Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
blood serum	BTO_0000133	[The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting.]
cholesterol ester	CHEBI_17002	[Cholesterol esterified at the 3-hydroxy group.]
response to antiviral drug	EFO_0010123	[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 antiviral drug stimulus. Antiviral drugs are a class of medication used specifically for treating viral infections.]
trimethyllysine measurement	EFO_0009134	[Quantification of trimethyllysine (N6,N6,N6-trimethyl-L-lysine) in the blood.]
blood metabolite measurement	EFO_0005664	[quantification of some metabolite in blood]
fasting blood glucose change measurement	EFO_0010120	[A quantification of the change in fasting blood glucose measurements at different points in time.]
fasting blood glucose measurement	EFO_0004465	[An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating.]
glucose	CHEBI_17234	[An aldohexose used as a source of energy and metabolic intermediate.]
leigh syndrome due to mitochondrial complex iv deficiency	EFO_0009135	[Deficiency in the terminal enzyme of the respiratory chain, complex IV, causing the progressive neurodegenerative disorder, Leigh syndrome.]
Leigh syndrome	MONDO_0009723	[A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.]
heterotaxy, visceral, x-linked	EFO_0009136	[X-linked, right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion , and is usually seen in males. Physical features include heart abnormalities such as dextrocardia , transposition of great vessels , ventricular septal defect , patent ductus arteriosus , pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele , urological anomalies, widely spaced eyes (hypertelorism), cleft palate , and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia .]
Heterotaxia	EFO_0009081	[Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located).]
obsolete_paroxysmal dystonia	Orphanet_200037
polysorbate 60	CHEBI_53425
obsolete_Tessier number 4 facial cleft	Orphanet_141258
polysorbate 20	CHEBI_53424	[A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group.]
non ionic surfactant role	CHEBI_38828	[A surfactant with an uncharged hydrophilic headgroup.]
obsolete_oblique facial cleft	Orphanet_141253
benign urinary system neoplasm	MONDO_0004180	[A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.]
charcot-marie-tooth disease, axonal, type 2t	EFO_0009162	[Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).]