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Summary Literature (0)
DOID:0080097 - myofibrillar myopathy 6

Disease Ontology Definition:A myofibrillar myopathy that is characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.

Synonyms: BAG3-related myofibrillar myopathy

Xenbase Genes : bag3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013061 - myofibrillar myopathy 6

MIM:
MIM:612954 - MYOPATHY, MYOFIBRILLAR, 6; MFM6

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), myofibrillar myopathy (is_a), myopathy (is_a)