Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
serine/threonine-protein kinase PAK 3 measurement	EFO_0020728	[The determination of the amount of serine/threonine-protein kinase PAK 3 in a sample]
semaphorin-6A measurement	EFO_0020721	[The determination of the amount of semaphorin-6A in a sample]
seprase measurement	EFO_0020722	[The determination of the amount of seprase in a sample]
obsolete_benign paroxysmal tonic upgaze of childhood with ataxia	Orphanet_1179
arm span	EFO_0005108	[Distance between the tips of the longest fingers with the arms maximally outstretched laterally.]
serine protease HTRA2, mitochondrial measurement	EFO_0020723	[The determination of the amount of serine protease HTRA2, mitochondrial in a sample]
46 XX gonadal dysgenesis	MONDO_0009299	[46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.]
gonadal dysgenesis	MONDO_0001967	[A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.]
energy expenditure	EFO_0005109	[energy expenditure is generally considered to be the sum of internal heat produced and external work through physical activity]
serine/threonine-protein kinase 16 measurement	EFO_0020724	[The determination of the amount of serine/threonine-protein kinase 16 in a sample]
obsolete_genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	Orphanet_330206
hypoxanthine guanine phosphoribosyltransferase partial deficiency	MONDO_0010299	[Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.]
seizure 6-like protein 2 measurement	EFO_0020720	[The determination of the amount of seizure 6-like protein 2 in a sample]
Lesch-Nyhan syndrome	MONDO_0010298	[Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.]
obsolete_cryptogenic late-onset epileptic spasms	Orphanet_163708
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy	Orphanet_1192
obsolete_atelosteogenesis type I	Orphanet_1190
ectodermal dysplasia and immune deficiency	MONDO_0010293
Uruguay Faciocardiomusculoskeletal syndrome	MONDO_0010292
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	MONDO_0010295	[This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.]