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Summary Literature (0)
DOID:0080093 - adult-onset myofibrillar myopathy 2A

Disease Ontology Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.

Synonyms: alpha-b crystallinopathy, myofibrillar myopathy 2

Xenbase Genes : cryab

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012130 - myofibrillar myopathy 2

MIM:
MIM:608810 - MYOPATHY, MYOFIBRILLAR, 2; MFM2

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

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