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Summary Literature (0)
DOID:0080094 - myofibrillar myopathy 3

Disease Ontology Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.

Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1A, LGMD 1A, LGMD1A, myotilinopathy, spheroid body myopathy

Xenbase Genes : myot

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012215 - myofibrillar myopathy 3


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)