rippling muscle disease 2
Information
- Disease name
- rippling muscle disease 2
- Disease ID
- DOID:0060255
- Description
- "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." [url:http\://ghr.nlm.nih.gov/condition/rippling-muscle-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/9537420]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:66
- Cross Reference ID (Disease Ontology)
- GARD:9164
- Cross Reference ID (Disease Ontology)
- MIM:606072
- Cross Reference ID (Disease Ontology)
- ORDO:265
- Cross Reference ID (Disease Ontology)
- ORDO:97238
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:709281006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1853698
- Exact Synonym (Disease Ontology)
- autosomal dominant limb-girdle muscular dystrophy type 1C
- MedGen concept unique identifier (MedGen Concept name)
- C1832560
- MedGen unique identifier (MedGen Concept name)
- 371357