Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
docosapentaenoate	CHEBI_78053	[A polyunsaturated fatty acid anion that is the conjugate base of docosapentaenoic acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.]
complement C4b measurement	EFO_0008092	[quantification of the amount of complement C4b in a sample]
10-heptadecenoate 17:1n7 measurement	EFO_0021060	[Quantification of the amount of 10-heptadecenoate 17:1n7 in a sample.]
complement component C7 measurement	EFO_0008093	[quantification of the amount of complement component C7 in a sample]
Cholecystitis	HP_0001082	[The presence of inflammatory changes in the gallbladder.]
spastic paraplegia-facial-cutaneous lesions syndrome	MONDO_0017275	[Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.]
complement component C8 measurement	EFO_0008094	[quantification of the amount of complement component C8 in a sample]
complement factor I measurement	EFO_0008099	[quantification of the amount of complement factor I in a sample]
obsolete_birdshot chorioretinopathy	Orphanet_179
obsolete_chordoma	Orphanet_178
obsolete_rhizomelic chondrodysplasia punctata	Orphanet_177
obsolete_non-rhizomelic chondrodysplasia punctata	Orphanet_176
obsolete_cartilage-hair hypoplasia	Orphanet_175
Metaphyseal chondrodysplasia, Schmid type	Orphanet_174
obsolete_progressive familial intrahepatic cholestasis	Orphanet_172
obsolete_Cockayne syndrome	Orphanet_191	[Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.]
2-hydroxystearate measurement	EFO_0021059	[Quantification of the amount of 2-hydroxystearate in a sample.]
obsolete_Coats disease	Orphanet_190	[Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.]
n-Butyl Oleate measurement	EFO_0021058	[Quantification of the amount of n-Butyl Oleate in a sample.]
hexadecanedioate measurement	EFO_0021055	[Quantification of the amount of hexadecanedioate in a sample.]