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Metadata
ID DOID:0080093
Name myofibrillar myopathy 2
Definition A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.
https://www.omim.org/entry/608810
Xrefs

OMIM:608810

ORDO:399058

Subsets

DO_rare_slim

Synonyms

alpha-b crystallinopathy [EXACT]

Parent Relationships

is_a myofibrillar myopathy

is_a autosomal dominant disease

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