| 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 |
SNOMEDCT_US_2023_03_01:709281006 |
| Alternateids |
DOID:0110302 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1C [EXACT] |
| Parent Relationships |