facioscapulohumeral muscular dystrophy 1

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Summary

Literature (0)

DOID:0111192 - facioscapulohumeral muscular dystrophy 1

Disease Ontology Definition:A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

Synonyms: FSHD1, facioscapulohumeral muscular dystrophy type 1, facioscapulohumeral muscular dystrophy type 1A,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): facioscapulohumeral muscular dystrophy (is_a)