Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
situs inversus	MONDO_0010029	[A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).]
erucic acid measurement	EFO_0007976	[The determination of the amount of erucic acid present in a sample.]
picomole per microliter	EFO_0005313
Mayer-Rokitansky-Küster-Hauser syndrome	Orphanet_3109	[Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations.]
Female infertility due to an implantation defect of genetic origin	Orphanet_400025
inherited macular dystrophy	EFO_0020937
femtomole per nanogram	EFO_0005314
gondoic acid measurement	EFO_0007975	[The determination of the amount of gondoic acid present in a sample.]
immune-mediated adverse reaction	EFO_0020930	[Immunotherapies activate the immune response and may lead to immune-mediated adverse reactions. These are most commonly gastrointestinal, respiratory, endocrine or dermatologic.]
obsolete_autosomal dominant Robinow syndrome	Orphanet_3107
galectin-1 measurement	EFO_0020932	[Quantification of the amount of galectin-1 in a sample.]
obsolete_Robinow-like syndrome	Orphanet_3105
Fraser syndrome	MONDO_0009046	[Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.]
cryptophthalmia	MONDO_0020153	[A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.]
HIV resevoir measurement	EFO_0020933	[A measurement of HIV reservoir in a sample.]
axial length measurement	EFO_0005318	[quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry]
childhood trauma measurement	EFO_0007979	[quantification of some aspect of childhood trauma such as type, severity or duration. Childhood trauma can be reliably assessed through the Childhood Trauma Questionnaire (CTQ), a 28-item self-report inventory of early life adverse events. ]
Robin sequence - oligodactyly	Orphanet_3104
cataract-nephropathy-encephalopathy syndrome	MONDO_0009045	[Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.]
esterified stigmasterol measurement	EFO_0020970	[Quantification of the amount of esterified stigmasterol in a sample. Stigmasterol is a 3beta-sterol that consists of 3beta-hydroxystigmastane having double bonds at the 5,6- and 22,23-positions.]