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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 TTID gene on chromosome 5q31.
https://www.ncbi.nlm.nih.gov/pubmed/10958653, https://www.omim.org/entry/609200
Xrefs

ICD10CM:G71.0

OMIM:609200

ORDO:266

Alternateids

DOID:0110300

Synonyms

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

myotilinopathy [EXACT]

Parent Relationships

is_a myofibrillar myopathy

is_a autosomal dominant disease

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