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Summary Literature (0)
DOID:0060917 - facioscapulohumeral muscular dystrophy 3

Disease Ontology Definition:A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.

Synonyms: FSHD3, facioscapulohumeral muscular dystrophy type 3,

Xenbase Genes :



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)