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Disease Ontology Browser
rippling muscle disease 2 (DOID:0060255)
Alliance: disease page
Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1C
Alt IDs: OMIM:606072, ORDO:265, ORDO:97238, UMLS_CUI:C1853698
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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory