loading...| Preferred Name |
Rippling Muscle Disease 2 |
|
| Synonyms |
Rippling Muscle Disease 2 RMD2 |
|
| Definitions |
An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C148325 |
|
| code |
C148325 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. |
|
| FULL_SYN |
Rippling Muscle Disease 2 RMD2 |
|
| label |
Rippling Muscle Disease 2 |
|
| Preferred_Name |
Rippling Muscle Disease 2 |
|
| prefixIRI |
Thesaurus:C148325 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C1832560 |
|
| subClassOf |