Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Bangstad syndrome	Orphanet_1227
obsolete_Banki syndrome	Orphanet_1228
obsolete_Baller-Gerold syndrome	Orphanet_1225
obsolete_Bamforth-Lazarus syndrome	Orphanet_1226	[Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.]
erythronate	CHEBI_133792	[A hydroxy monocarboxylic acid anion obtained by deprotonation of the carboxy group of any erythronic acid; major species at pH 7.3.]
Cronobacter turicensis	NCBITaxon_413502
Cronobacter muytjensii	NCBITaxon_413501
obsolete_qualitative or quantitative defects of dystrophin	Orphanet_207085
obsolete_glomuvenous malformation	Orphanet_83454
Salmonella enterica subsp. enterica serovar Senftenberg	NCBITaxon_28150
urinary nitrogen measurement	EFO_0005190
obsolete_qualitative or quantitative defects of integrin alpha-7	Orphanet_207098
serum IgG glycosylation measurement	EFO_0005193	[quantification of N-linked IgG glycans in a serum sample]
amyloid-beta measurement	EFO_0005194	[quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease]
obsolete_qualitative or quantitative defects of merosin	Orphanet_207094
waist height ratio	EFO_0005191	[A quantification of the waist-height WHtR - a measurement of body fat distribution. ]
red blood cell distribution width	EFO_0005192	[measure of the variation of red blood cell (RBC) volume]
beta-2 microglobulin measurement	EFO_0005197	[A quantification of the MHC component beta-2 microglobulin, typically in a blood sample. Used as progostic indicator in multiple myeloma, and diseases associated with increased cell turnover. Levels are also elevated in several benign conditions such as chronic inflammation, liver disease, renal dysfunction, some acute viral infections, and a number of malignancies, especially hematologic malignancies associated with the B-lymphocyte lineage.]
transplant outcome measurement	EFO_0005198
response to cholinesterase inhibitor	EFO_0005195	[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 cholinesterase inhbitor stimulus.]