Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Conjunctival telangiectasia	Orphanet_98613
amoxicillin	CHEBI_2676	[A penicillin that has formula C16H19N3O5S., A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group.]
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2E	Orphanet_119
obsolete_beta-mannosidosis	Orphanet_118
artificial sequences	NCBITaxon_81077
obsolete_Beckwith-Wiedemann syndrome	Orphanet_116	[Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.]
obsolete_congenital contractural arachnodactyly	Orphanet_115
obsolete_auriculoosteodysplasia	Orphanet_114
Bazex-Dupré-Christol syndrome	Orphanet_113	[Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.]
obsolete_Bartter syndrome	Orphanet_112	[Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.]
obsolete_Barth syndrome	Orphanet_111	[Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.]
obsolete_Bardet-Biedl syndrome	Orphanet_110
Staphylococcus aureus subsp. aureus COL	NCBITaxon_93062
Staphylococcus aureus subsp. aureus NCTC 8325	NCBITaxon_93061
obsolete_methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	Orphanet_308425
Synechococcus elongatus	NCBITaxon_32046
amphotericin B	CHEBI_2682	[A macrolide antibiotic used to treat potentially life-threatening fungal infections.]
Cupriavidus metallidurans	NCBITaxon_119219
obsolete_Borjeson-Forssman-Lehmann syndrome	Orphanet_127	[Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.]
obsolete_Bloom syndrome	Orphanet_125	[Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.]