Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
congenital ectropion uveae	MONDO_0019630	[Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.]
proprotein convertase subtilisin/kexin type 7 measurement	EFO_0008270	[quantification of the amount of proprotein convertase subtilisin/kexin type 7 in a sample]
obsolete_syndromic craniosynostosis	Orphanet_139393
semaphorin-3E measurement	EFO_0008279	[quantification of the amount of semaphorin-3E in a sample]
2-acetylaminofluorene	CHEBI_17356	["An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2." []]
1,10-phenanthroline	CHEBI_44975	[A phenanthroline that has formula C12H8N2.]
obsolete_X-linked cerebral adrenoleukodystrophy	Orphanet_139396	[X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.]
S-formylglutathione hydrolase measurement	EFO_0008275	[quantification of the amount of S-formylglutathione hydrolase in a sample]
linoleic acid	CHEBI_17351	[An octadecadienoic acid in which the two double bonds are at positions 9 and 12 and have Z (cis) stereochemistry.]
obsolete_isolated craniosynostosis	Orphanet_139390
scavenger receptor class F member 1 measurement	EFO_0008276	[quantification of the amount of scavenger receptor class F member 1 in a sample]
Gerstmann-Straussler-Scheinker syndrome	MONDO_0007656	[A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.]
Secreted frizzled-related protein 3 measurement	EFO_0008277	[quantification of the amount of Secreted frizzled-related protein 3 in a sample]
Tomato yellow leaf curl virus	NCBITaxon_10832
semaphorin-3A measurement	EFO_0008278	[quantification of the amount of semaphorin-3A in a sample]
epileptic encephalopathy, infantile or early childhood, 1	MONDO_0020630
genochondromatosis	MONDO_0007653
X-11452 measurement	EFO_0021239	[Quantification of the amount of X-11452 in a sample.]
gastrocutaneous syndrome	MONDO_0007651
X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement	EFO_0021238	[Quantification of the amount of X-11445--5-alpha-pregnan-3beta,20alpha-disulfate in a sample.]