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Summary Literature (0)
DOID:0111193 - facioscapulohumeral muscular dystrophy 2

Disease Ontology Definition:A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression.

Synonyms: facioscapulohumeral muscular dystrophy 1B, facioscapulohumeral muscular dystrophy type 2, FSHD2

Xenbase Genes : smchd1



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)