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Summary Literature (0)
DOID:0060918 - facioscapulohumeral muscular dystrophy 4

Disease Ontology Definition:A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.

Synonyms: FSHD4, facioscapulohumeral muscular dystrophy type 4,

Xenbase Genes :



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): facioscapulohumeral muscular dystrophy (is_a)