Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_congenital absence of thigh and lower leg with foot present, unilateral	Orphanet_295089
phenotypic sex	PATO_0001894	[The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female., An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics., An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved., Term applied to any organism able to undergo sexual reproduction in order to differentiate the individuals or types involved. Sexual reproduction is defined as the ability to exchange genetic material with the potential of recombinant progeny.]
obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	Orphanet_319552
number of cancers, self-reported	EFO_0009800	[Number of cancer occurrences in an individual, as reported by the individual.]
self-reported trait	EFO_0009799	[Characteristics of an individual that are reported by the individual, usually to medical staff, including via questionnaires, rather than observed or measured directly by medical staff.]
Central polydactyly of toes	Orphanet_295010
Non-Seminomatous Lesion	EFO_1000401	[A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.]
obsolete_familial isolated clinodactyly of fingers	Orphanet_295014
whole body water mass	EFO_0009805	[The weight of an individual's body water, i.e. the water content of a body that is contained in the tissues, the blood, the bones and elsewhere. The percentages of body water contained in various fluid compartments add up to total body water (TBW).]
anthropometric measurement	EFO_0004302	[Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.]
Listeria monocytogenes EGD-e	NCBITaxon_169963
Normal Breast-Like Subtype of Breast Carcinoma	EFO_1000402	[A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues.]
total hip arthroplasty	EFO_0009806	[A surgical procedure in which the hip joint is replaced by a prosthetic implant, that is, a hip prosthesis. A total hip replacement (total hip arthroplasty) consists of replacing both the acetabulum and the femoral head.]
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	Orphanet_319547	[Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).]
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Orphanet_319535	[Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms).]
obsolete_syndactyly type 6	Orphanet_295012
cadaver dissection	EFO_0009807	[Sequential division of tissue layers to expose (and isolate) organs and organ parts of a deceased human body.]
dissection	EFO_0003856	[The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures.]
aromatic compound biosynthetic process	GO_0019438	[ The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. ]
cellular biosynthetic process	GO_0044249	[ The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. ]