Rippling Muscle Disease 2
Disease ID: disease_node_15793
Connections displayed (default: 10).
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| Dbxref | GARD:9164, MIM:606072, ORDO:265, ORDO:97238, SNOMEDCT_US_2023_03_01:709281006, UMLS_CUI:C1853698 |
|---|---|
| Subclassof | DOID_66, DOID_0050736 |
| Data Source | DOID |
| Synonyms | autosomal dominant limb-girdle muscular dystrophy type 1C |
| Doid Label | rippling muscle disease 2 |
| Doid 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. NT MGI. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15793 |
| Doid Id | DOID_0060255 |
| Label | Rippling Muscle Disease 2 |
| Doid Alternate Ids | DOID_0110302 |
- Outgoing r'ship
SUBCLASS_OFto/from Muscle Tissue Disease(ID:disease_node_15790) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)