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Metadata
ID DOID:0111191
Name distal myopathy Tateyama type
Definition A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
https://www.ncbi.nlm.nih.gov/pubmed/11805270
Xrefs

MIM:614321

ORDO:488650

Subsets

DO_rare_slim

Synonyms

distal muscular dystrophy Tateyama type [EXACT]

Parent Relationships

is_a distal myopathy

is_a autosomal dominant disease

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