OBO ID: DOID:0111192
Term Name: facioscapulohumeral muscular dystrophy 1 Search Ontology:
Synonyms:
  • facioscapulohumeral muscular dystrophy type 1
  • facioscapulohumeral muscular dystrophy type 1A
  • FSHD1
Definition: A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (2)
References:
Ontology: Human Disease   ( DOID:0111192 )
OTHER facioscapulohumeral muscular dystrophy 1 PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (1)