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Metadata
ID DOID:0060255
Name rippling muscle disease 2
Definition A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
http://ghr.nlm.nih.gov/condition/rippling-muscle-disease, https://www.ncbi.nlm.nih.gov/pubmed/9537420
Xrefs

GARD:9164

ICD10CM:G71.0

MESH:C535686

OMIM:606072

ORDO:265

ORDO:97238

UMLS_CUI:C1853698

Alternateids

DOID:0110302

Subsets

DO_rare_slim

Synonyms

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

Parent Relationships

is_a muscle tissue disease

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