Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
X-linked severe congenital neutropenia	MONDO_0010294	[This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.]
Ataxia-deafness-intellectual disability syndrome	Orphanet_1188
ELR	EFO_0007750	[Transformed BJ cells expressing hTERT, SV40 early region and RAS.]
obsolete_infantile onset spinocerebellar ataxia	Orphanet_1186
Lethal ataxia with deafness and optic atrophy	Orphanet_1187
secreted frizzled-related protein 1 measurement	EFO_0020718	[The determination of the amount of secreted frizzled-related protein 1 in a sample]
response to immunochemotherapy	EFO_0007754	[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 immunochemotherapy stimulus.]
Spinocerebellar ataxia - dysmorphism	Orphanet_1185
secretin measurement	EFO_0020719	[The determination of the amount of secretin in a sample]
seasonal gut microbiome measurement	EFO_0007753	[quantification of some aspect of the seasonal variation in the micrbiome of the gut]
Spastic ataxia with congenital miosis	Orphanet_1182
VCaP	EFO_0007752	[Human prostate cancer cell line.]
ES-E14TG2a.4	EFO_0007751	[Feeder free cell line derived from E14TG2a.]
roundabout homolog 3 measurement	EFO_0020714	[The determination of the amount of roundabout homolog 3 in a sample]
intermittent Staphylococcus aureus carrier status	EFO_0007758	[quantification of the change in presence or absence of Staphylococcus aureus colonies in an individual at two different points in time, from positive to negative or negative to positve]
Staphylococcus aureus carrier status	EFO_0007756	[quantification of the presence or absence of Staphylococcus aureus colonies in an individual. Positive carrier status should not be equated with infection.]
s-phase kinase-associated protein 1 measurement	EFO_0020715	[The determination of the amount of s-phase kinase-associated protein 1 in a sample]
persistent Staphylococcus aureus carrier status	EFO_0007757	[quantification of the consistent presence or absence of Staphylococcus aureus colonies in an individual at at least two separate points in time]
obsolete_Autosomal dominant neovascular inflammatory vitreoretinopathy	Orphanet_329211
scavenger receptor class F member 2 measurement	EFO_0020716	[The determination of the amount of scavenger receptor class F member 2 in a sample]