Term Name: | facioscapulohumeral muscular dystrophy 1 |
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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 ) |