Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Bartsocas-Papas syndrome	Orphanet_1234	[Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by microcephaly, severe popliteal webbing, oligosyndactyly, genital abnormalities, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, and other ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.]
high density lipoprotein particle size change measurement	EFO_0020866	[Quantification of the change in high density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
high density lipoprotein particle size measurement	EFO_0008592	[Quantification of the size of HDL particles, typically their diameter.]
remnant cholesterol change measurement	EFO_0020867	[Quantification of the change in remnant cholesterol levels in an individual over time, e.g. over the course of several hours after a high-fat meal.]
soluble CD14 measurement	EFO_0020860	[Quantification of the circulating pattern recognition receptor CD14 in a sample such as blood plasma.]
ANGPTL8 measurement	EFO_0020861	[Quantification of the levels of ANGPTL8 protein in a sample, typically blood plasma.]
AG11726	CLO_0022371	[BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA) GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION]
response to verapamil	EFO_0020862	[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 verapamil stimulus.]
response to calcium channel blocker	EFO_0007767	[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 calcium channel blocker stimulus]
major adverse cardiovascular event measurement	EFO_0020863	[Quantification of some major cardiovascular event such as cardiovascular death, myocardial infarction, atherothrombotic stroke and repeated revascularization.]
cardiovascular event measurement	EFO_0006919	[quantification of some cardiovascular event such as nonfatal myocardial infarction or atherothrombotic stroke]
Best vitelliform macular dystrophy	Orphanet_1243	[Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.]
alpha-carotene measurement	EFO_0007893	[quantification in a sample (eg blood) of alpha-carotene, the second most common form of carotene, with a β-ionone ring at one end and an α-ionone ring at the opposite end]
carotenoid measurement	EFO_0004737	[Is a quantification of some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations.]
donor genotype effect measurement	EFO_0007892	[quantification of the effect of the donor genotype on the success of an organ or tissue transplant]
ECC-1	EFO_0005231	[An established epithelial cell line derived from an adenocarcinoma of human endometrial lining.]
obsolete_Bencze syndrome	Orphanet_1241	[Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.]
pericardial adipose tissue measurement	EFO_0007890	[quantification of adipose tissue located around the heart]
pericardial fat	UBERON_0035814	[The sum of epicardial and paracardial fat deposits.]
PFSK-1	EFO_0005234	[Neuroectodermal cell line derived from a cerebral brain tumor.]