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loading...| Preferred Name |
Rippling Muscle Disease 2 |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C148325 |
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| code |
C148325 |
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| Contributing_Source |
Cellosaurus |
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| 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. |
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| in_subset | ||
| label |
Rippling Muscle Disease 2 |
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| Preferred_Name |
Rippling Muscle Disease 2 |
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| prefixIRI |
NCIT:C148325 |
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| prefLabel |
Rippling Muscle Disease 2 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1832560 |
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| subClassOf |
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