Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
nucleoside measurement	EFO_0010512	[Quantification of nucleoside levels in a sample.]
ursodeoxycholate measurement	EFO_0010547	[Quantification of ursodeoxycholate levels in a sample.]
carboxylic acid anion measurement	EFO_0010467	[Quantification of carboxylic acid anion levels in a sample.]
renal tubule disease	EFO_0009566	[A disease that involves the renal tubule.]
left ventricular stroke volume measurement	EFO_0010555	[Quantification of the volume of blood pumped from the left ventricle of the heart with each beat, calculated by subtracting the volume of blood in the ventricle at the end of a beat (end-systolic volume) from the volume of blood just prior to the beat (end-diastolic volume).]
Left ventricular mass to end-diastolic volume ratio	EFO_0010556	[Quantification of the ratio of left ventricular mass to end-diastolic volume. Elevated left ventricular mass/end-diastolic volume ratio has been associated with higher evidence of myocardial fibrosis and dysfunction in hypertensive patients]
cerebrotendinous xanthomatosis	MONDO_0008948	[Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.]
inborn disorder of bile acid synthesis	MONDO_0019218	[Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.]
genetic peripheral neuropathy	MONDO_0020127	[Genetic peripheral neuropathy.]
cerebral organic aciduria	MONDO_0019213	[A inherited organic acidemia that involves the brain.]
xanthomatosis	MONDO_0002615	[A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.]
cerebellar degeneration	MONDO_0022687	[Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.]
cholesterol catabolic process disease	MONDO_0045016	[A disease that has its basis in the disruption of cholesterol catabolic process.]
cerebral lipidosis with dementia	MONDO_0020143
autosomal recessive metabolic cerebellar ataxia	MONDO_0020044
cocaine use measurement	EFO_0010553	[A quantification of some aspect of cocaine use]
drug use measurement	EFO_0007010	[quantification of some aspect of drug use, such as whether drug use occured, over what period of time it occured and what dosage was used]
cocaine use disorder	EFO_0010445	[A substance-related disorder that involves the recurring use of cocaine despite negative consequences. Cocaine use disorder is a diagnosis in DSM-5 that corresponds to two separate diagnoses in DSM-IV: cocaine abuse and cocaine dependence.]
cocaine dependence	EFO_0002610	[A drug dependence that is a psychological dependency on the regular use of cocaine., A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.]
cocaine	CHEBI_27958	[An alkaloid obtained from leaves of the South American shrub Erythroxylon coca.]