|
| General Information | |||
|---|---|---|---|
| Term | rippling muscle disease 2 | ID (Ontology) | DOID:0060255 (Human Disease) |
| 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. | ||
| Also Known As | "autosomal dominant limb-girdle muscular dystrophy type 1C" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal dominant disease__ muscular disease | |__muscle tissue disease_______| rippling muscle disease 2 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease muscle tissue disease |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:9164 MIM:606072 ORDO:265 ORDO:97238 SNOMEDCT_US_2023_03_01:709281006 UMLS_CUI:C1853698 |
|||