Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_maternal 14q32.2 microdeletion syndrome	Orphanet_254528
obsolete_46,XX disorder of sex development induced by fetal androgens excess	Orphanet_90776
cellular schwannoma	MONDO_0002548	[A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.]
obsolete_paternal 14q32.2 microdeletion syndrome	Orphanet_254525
Hexadecanoic acid	CHEBI_15756	[A straight-chain saturated fatty acid that has formula C16H32O2., A straight-chain, 16-carbon saturated fatty acid and major component of the oil from palm trees; the first fatty acid produced during lipogenesis, from which longer fatty acids can be produced. Reportedly has detrimental cardiovascular effects when there is insufficient intake of linoleic acid., A straight-chain, sixteen-carbon saturated fatty acid and major component of the oil from palm trees; the first fatty acid produced during lipogenesis, from which longer fatty acids can be produced. Reportedly has detrimental cardiovascular effects when there is insufficient intake of linoleic acid., A straight-chain, sixteen-carbon, saturated long-chain fatty acid.]
obsolete_keratoconus	Orphanet_156071
platelet-type bleeding disorder 19	MONDO_0014518	[Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.]
autosomal dominant mitochondrial myopathy with exercise intolerance	MONDO_0014532
thrombocytopenia 5	MONDO_0014536	[Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.]
CE(22:6)	CHEBI_74103	[A cholesterol ester in which the acyl group contains 22 carbons in total and 6 double bonds.]
Hypoplasia of the iris	HP_0007676	[Congenital underdevelopment of the iris.]
autosomal recessive spinocerebellar ataxia 18	MONDO_0014530	[Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.]
BJABK3	EFO_0001090
BL41K3	EFO_0001091
46,XY disorder of sex development of gynecological interest	Orphanet_325632
46,XY disorder of sex development due to testosterone synthesis defect	Orphanet_90783
BT20	EFO_0001092	[A cell line derived from epithelial cells of human breast carcinoma.]
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect	Orphanet_90786
bone marrow cancer cell	BTO_0000583
obsolete_maternal 14q32.2 hypermethylation syndrome	Orphanet_254534