rippling muscle disease 2

Summary

DOID:0060255 - rippling muscle disease 2

Disease Ontology 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.

Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1C,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cav3.1, cav3.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019947 - rippling muscle disease 2

MONDO:0019947 - rippling muscle disease 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), muscle tissue disease (is_a)