facioscapulohumeral muscular dystrophy 1 Disease Ontology Browser

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Disease Ontology Browser

facioscapulohumeral muscular dystrophy 1 (DOID:0111192)
Alliance: disease page
Synonyms: facioscapulohumeral muscular dystrophy type 1; facioscapulohumeral muscular dystrophy type 1A; FSHD1
Alt IDs: OMIM:158900
Definition: A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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