Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
L-Threonine measurement	EFO_0021631	[Quantification of the amount of L-Threonine in a sample.]
L-Serine measurement	EFO_0021630	[Quantification of the amount of L-Serine in a sample.]
margarate	CHEBI_32366	[A straight-chain saturated fatty acid anion that is the conjugate base of margaric acid, obtained by deprotonation of the carboxy group.]
L-Tryptophan measurement	EFO_0021633	[Quantification of the amount of L-Tryptophan in a sample.]
L-Thyroxine measurement	EFO_0021632	[Quantification of the amount of L-Thyroxine in a sample.]
heptanoate	CHEBI_32362	[A medium-chain fatty acid anion that is the conjugate base of heptanoic acid; shown in myocardial ischaemia/reperfusion studies to increase levels of C4 Kreb's cycle intermediates.]
arachidate	CHEBI_32360	[A long-chain fatty acid anion resulting from the removal of a proton from the carboxy group of arachidic acid.]
obsolete_glycerol kinase deficiency, juvenile form	Orphanet_284411
obsolete_glycerol kinase deficiency, adult form	Orphanet_284414
obsolete_Norrie disease	Orphanet_649	[Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.]
rhombomere	UBERON_0001892	[A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure.[WP].]
obsolete_Noonan syndrome	Orphanet_648
obsolete_Pilotto syndrome	Orphanet_2894
obsolete_Nijmegen breakage syndrome	Orphanet_647	[Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.]
BruUV-Seq	EFO_0008664	[an approach that complements the Bru-seq technique by enhancing nascent RNA signal around promoters and enhancers genome-wide in intact cells]
obsolete_Niemann-Pick disease type C	Orphanet_646
BS-Seq	EFO_0008665	[Bisulfite conversion of genomic DNA (bs-Seq)]
Pilodental dysplasia - refractive errors	Orphanet_2892
BSAS	EFO_0008666	[Bisulfite amplicon sequencing (BSAS)]
Pili torti - developmental delay - neurological abnormalities	Orphanet_2891