loading...| Preferred Name |
rippling muscle disease 2 |
|
| Synonyms |
limb-girdle muscular dystrophy due to caveolin-3 deficiency LGMD1C autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3 CAV3 rippling muscle disease rippling muscle disease caused by mutation in CAV3 rippling muscle disease 2 muscular dystrophy limb-girdle type IC CAV3 autosomal dominant limb-girdle muscular dystrophy rippling muscle disease type 2 RMD2 muscular dystrophy, limb-girdle, type IC muscular dystrophy, limb-girdle, type 1C limb-girdle muscular dystrophy type 1C |
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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/MONDO_0019947 |
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| has_exact_synonym |
limb-girdle muscular dystrophy due to caveolin-3 deficiency LGMD1C autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3 CAV3 rippling muscle disease rippling muscle disease caused by mutation in CAV3 rippling muscle disease 2 muscular dystrophy limb-girdle type IC CAV3 autosomal dominant limb-girdle muscular dystrophy rippling muscle disease type 2 RMD2 |
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| has_related_synonym |
muscular dystrophy, limb-girdle, type IC muscular dystrophy, limb-girdle, type 1C limb-girdle muscular dystrophy type 1C |
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| label |
rippling muscle disease 2 |
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| prefixIRI |
MONDO:0019947 |
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| prefLabel |
rippling muscle disease 2 |
|
| textual 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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| subClassOf |