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Ontology Browser

Term:
facioscapulohumeral muscular dystrophy 1 (DOID:0111192)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (0) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
facioscapulohumeral muscular dystrophy 1  
A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (DO)
facioscapulohumeral muscular dystrophy 2  
Myopathy with Storage of Glycoproteins and Glycosaminoglycans 
Scapulohumeral Muscular Dystrophy  

Synonyms
Exact Synonyms: FSHD1 ;   FSHD1A ;   FSHMD1A ;   Facioscapulohumeral Muscular Dystrophy 1A ;   Facioscapulohumeral muscular dystrophy, infantile ;   facioscapulohumeral muscular dystrophy, type 1 ;   facioscapulohumeral muscular dystrophy, type 1a
Narrow Synonyms: FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES
Primary IDs: MESH:C536391
Alternate IDs: OMIM:158900 ;   RDO:0001960
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/1363881, https://www.ncbi.nlm.nih.gov/pubmed/15154112

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.