Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_Autosomal recessive non-syndromic sensorineural deafness type DFNB	Orphanet_90636
3-hydroxylaurate	CHEBI_76616	[A 3-hydroxy fatty acid anion that is the conjugate base of 3-hydroxylauric acid, obtained by deprotonation of the carboxy group; major species at pH 7.3.]
sarcosine	CHEBI_15611	[A N-alkylglycine that is the N-methyl derivative of glycine. It is an intermediate in the metabolic pathway of glycine.]
Listeria monocytogenes	NCBITaxon_1639
monensin A	CHEBI_27617
hereditary hyperbilirubinemia	MONDO_0002408	[An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.]
glycogen storage disease I	MONDO_0002413	[Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.]
Deafness - hypogonadism	Orphanet_90646
ethmoid sinus squamous cell carcinoma	MONDO_0002416	[A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.]
paranasal sinus squamous cell carcinoma	MONDO_0044705	[A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.]
Mitochondrial non-syndromic sensorineural deafness	Orphanet_90641
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	Orphanet_254776
Postlingual non-syndromic genetic deafness	Orphanet_216452
Prelingual non-syndromic genetic deafness	Orphanet_216445
Lactobacillus sanfranciscensis	NCBITaxon_1625
Lactobacillus salivarius	NCBITaxon_1624
obsolete_Jervell and Lange-Nielsen syndrome	Orphanet_90647
severe neurodegenerative syndrome with lipodystrophy	MONDO_0014402
tall stature-scoliosis-macrodactyly of the great toes syndrome	MONDO_0014401	[Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.]
STING-associated vasculopathy with onset in infancy	MONDO_0014405	[STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.]