Term Name: facioscapulohumeral muscular dystrophy 1
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.
Ontology: Human Disease [DOID:0111192]   ( DOID:0111192 )

Relationships
is a type of: facioscapulohumeral muscular dystrophy