Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
pyruvate measurement	EFO_0010117	[A quantification of pyruvate in a sample.]
pyruvate	CHEBI_15361	[A 2-oxo monocarboxylic acid anion that is the conjugate base of pyruvic acid, arising from deprotonation of the carboxy group.]
qualitative or quantitative defects of TRIM32	MONDO_0016153
Congenital disorder of glycosylation with cardiac malformation as a major feature	Orphanet_371183
obsolete_coloboma of superior eyelid	Orphanet_155884
sphingomyelin	CHEBI_17636
qualitative or quantitative defects of myotubularin	MONDO_0016154
time to first cigarette measurement	EFO_0010126	[Quantification of how soon after waking up an individual smokes their first cigarette of the day.]
nicotine dependence	EFO_0003768	[Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included., Inhaling and exhaling the smoke of tobacco or something similar to tobacco., Physical and psychological dependence on nicotine.]
renal hypodysplasia/aplasia 3	EFO_0009137	[Renal hypodysplasia/aplasia 3 (RHDA3) is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017).]
laminin alpha 2-related dystrophy	EFO_0009138	[Llaminin alpha 2-related dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally appears in one of two ways: as a severe, early-onset type or a milder, late-onset form.]
serum immunoglobulin measurement	EFO_0010127	[Quantification of the amount of immunglobulin in a serum sample.]
glut1 deficiency syndrome 1, autosomal recessive	EFO_0009139	[GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms.]
response to atorvastatin	EFO_0010124	[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 an atorvastatin stimulus. Atorvastatin is a statin used as a cholesterol-lowering and anti-cardiovascular disease drug.]
response to statin	GO_0036273	[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 statin stimulus, a compound that inhibits HMG-CoA reductases.]
atorvastatin	CHEBI_39548	[A dihydroxy monocarboxylic acid that has formula C33H35FN2O5., Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression.]
obsolete_Tay-Sachs disease, b variant, juvenile form	Orphanet_309185
viral load	EFO_0010125	[A measurement of the quantity of virus in a given volume of body fluid.]
qualitative or quantitative defects of integrin alpha-7	MONDO_0016150
cholesteryl ester transfer protein measurement	EFO_0009133	[Quantification of the amount of cholestryl ester transfer protein in a sample, typically serum.]