Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Genetic photodermatosis	Orphanet_183490
lactose measurement	EFO_0010507	[Quantification of lactose levels in a sample.]
obsolete_Sanfilippo syndrome type D	Orphanet_79272
inositol measurement	EFO_0010504	[Quantification of inositol levels in a sample.]
hydroxide measurement	EFO_0010497	[Quantification of hydroxide levels in a sample.]
obsolete_Sanfilippo syndrome type C	Orphanet_79271
isocitrate measurement	EFO_0010505	[Quantification of isocitrate levels in a sample.]
indoxyl sulfate measurement	EFO_0010502	[Quantification of indoxyl sulfate levels in a sample.]
obsolete_hereditary coproporphyria	Orphanet_79273
inosine measurement	EFO_0010503	[Quantification of inosine levels in a sample.]
niacinamide measurement	EFO_0010511	[Quantification of niacinamide levels in a sample.]
disturbance of skin sensation	EFO_0009522	[Disruption of the normal functioning of the sensory nerves in the skin. [ NCI ]]
entorhinal cortex	UBERON_0002728	[Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK).]
fecal incontinence	EFO_0009523	[Involuntary passage of stool from the rectum. [ NCI ]]
obsolete_alpha-N-acetylgalactosaminidase deficiency type 3	Orphanet_79281
female genital tract fistula	EFO_0009524	[An abnormal communication between a female reproductive system organ and another organ or cavity. [ NCI ]]
Rare genetic parkinsonian disorder	Orphanet_307052
Rare genetic movement disorder	Orphanet_183521
obsolete_alpha-N-acetylgalactosaminidase deficiency type 2	Orphanet_79280
NG-monomethyl-arginine measurement	EFO_0010510	[Quantification of NG-monomethyl-arginine levels in a sample.]