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Metadata
ID DOID:0111192
Name facioscapulohumeral muscular dystrophy 1
Definition A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
https://www.ncbi.nlm.nih.gov/pubmed/1363881, https://www.ncbi.nlm.nih.gov/pubmed/15154112
Xrefs

OMIM:158900

Synonyms

facioscapulohumeral muscular dystrophy type 1 [EXACT]

facioscapulohumeral muscular dystrophy type 1A [EXACT]

FSHD1 [EXACT]

Parent Relationships

is_a facioscapulohumeral muscular dystrophy

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