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Metadata
ID DOID:0080094
Name myofibrillar myopathy 3
Definition A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
https://pubmed.ncbi.nlm.nih.gov/10958653/, https://pubmed.ncbi.nlm.nih.gov/16380616/, https://pubmed.ncbi.nlm.nih.gov/30055862/, https://www.omim.org/entry/609200
Xrefs

GARD:10229

GARD:8711

ICD10CM:G71.0

MESH:C000598645

MESH:C535906

OMIM:609200

ORDO:266

ORDO:268129

Alternateids

DOID:0080091

DOID:0110300

Subsets

DO_rare_slim

Synonyms

autosomal dominant limb-girdle muscular dystrophy type 1A [EXACT]

LGMD 1A [EXACT]

myotilinopathy [EXACT]

spheroid body myopathy [EXACT]

Parent Relationships

is_a myofibrillar myopathy

is_a autosomal dominant disease

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