Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
health study participation	EFO_0010130	[Characteristic of an individual defined by their participation in a health study, e.g. by volunteering for or completing specific surveys, questionnaires or tasks.]
bladder urachal urothelial carcinoma	MONDO_0004163	[A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.]
bladder transitional cell carcinoma	EFO_0006544	[The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.]
calcineurin	CHEBI_53439
Congenital disorder of glycosylation with intestinal involvement	Orphanet_371188
obsolete_Beckwith-Wiedemann syndrome due to NSD1 mutation	Orphanet_238613
obsolete_coloboma of inferior eyelid	Orphanet_155889
disorder of protein O-glycosylation	MONDO_0017741	[A disease that has its basis in the disruption of protein O-linked glycosylation.]
clostridium difficile infection	EFO_0009130	[Symptomatic infection due to the spore-forming bacterium clostridium difficile.]
qualitative or quantitative defects of FKRP	MONDO_0016156
response to polyunsaturated fatty acid supplementation	EFO_0009131	[Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dietary polyunsaturated fatty acid supplement.]
cholesterol efflux capacity measurement	EFO_0009132	[Quantification of cholesterol efflux capacity, a measure of HDL functionality that quantifies the ability of an individual’s HDL to extract cholesterol from cholesterol-loaded macrophages. Efflux capacity is considered to be a predictor of atherosclerotic burden.]
blood plasma	UBERON_0001969	[The liquid component of blood, in which erythrocytes are suspended.]
HDL cholesterol	CHEBI_47775	[Cholesterol esters and free cholesterol which are contained in or bound to high-density lipoproteins (HDL)., A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases., Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.]
cholesterol homeostasis	EFO_0005879	[Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.]
narcolepsy-cataplexy syndrome	MONDO_0016158	[Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).]
narcolepsy	MONDO_0021107	[A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.]
omega-3 polyunsaturated fatty acid measurement	EFO_0010119	[A quantification of omega-3 fatty acid in a sample.]
qualitative or quantitative defects of perlecan	MONDO_0016151
qualitative or quantitative defects of calpain	MONDO_0016152