Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_spondylometaphyseal dysplasia	Orphanet_254
Cryptosporidiosis - chronic cholangitis - liver disease	Orphanet_357329
obsolete_multiple epiphyseal dysplasia	Orphanet_251
obsolete_frontonasal dysplasia	Orphanet_250
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes	Orphanet_357332
Facioscapulohumeral dystrophy	Orphanet_269	[Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.]
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2B	Orphanet_268
obsolete_autosomal recessive limb-girdle muscular dystrophy type 2A	Orphanet_267
obsolete_Autosomal dominant limb-girdle muscular dystrophy type 1A	Orphanet_266	[Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria.]
Autosomal dominant limb-girdle muscular dystrophy type 1C	Orphanet_265	[Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement.]
Autosomal dominant limb-girdle muscular dystrophy type 1B	Orphanet_264	[Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated.]
obsolete_limb-girdle muscular dystrophy	Orphanet_263
obsolete_Duchenne and Becker muscular dystrophy	Orphanet_262
obsolete_Emery-Dreifuss muscular dystrophy	Orphanet_261	[Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.]
obsolete_hereditary episodic ataxia	Orphanet_211062
obsolete_partial duplication of chromosome 11	Orphanet_262653
obsolete_episodic ataxia type 5	Orphanet_211067
fibula	UBERON_0001446	[The major postaxial endochondral bone in the posterior zeugopod[Phenoscape].]
obsolete_syndromic renal or urinary tract malformation	Orphanet_93547
obsolete_partial trisomy/tetrasomy of the short arm of chromosome 12	Orphanet_262658