loading...| Preferred Name | rippling muscle disease 2 | |
| Synonyms |
muscular dystrophy, limb-girdle, type IC muscular dystrophy, limb-girdle, type 1C limb-girdle muscular dystrophy type 1C rippling muscle disease type 2 CAV3 autosomal dominant limb-girdle muscular dystrophy CAV3 rippling muscle disease rippling muscle disease 2 muscular dystrophy limb-girdle type IC limb-girdle muscular dystrophy due to caveolin-3 deficiency rippling muscle disease caused by mutation in CAV3 autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3 LGMD1C RMD2 |
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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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019947 |
|
| database_cross_reference |
OMIM:606072 UMLS:C1832560 MEDGEN:371357 DOID:0060255 Orphanet:97238 NCIT:C148325 GARD:9164 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0060255 http://purl.obolibrary.org/obo/NCIT_C148325 http://linkedlifedata.com/resource/umls/id/C1832560 http://purl.obolibrary.org/obo/Orphanet_97238 |
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| has_exact_synonym |
rippling muscle disease type 2 CAV3 autosomal dominant limb-girdle muscular dystrophy CAV3 rippling muscle disease rippling muscle disease 2 muscular dystrophy limb-girdle type IC limb-girdle muscular dystrophy due to caveolin-3 deficiency rippling muscle disease caused by mutation in CAV3 autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3 LGMD1C RMD2 |
|
| has_related_synonym |
muscular dystrophy, limb-girdle, type IC muscular dystrophy, limb-girdle, type 1C limb-girdle muscular dystrophy type 1C |
|
| id |
MONDO:0019947 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
rippling muscle disease 2 |
|
| notation |
MONDO:0019947 |
|
| preferred label |
rippling muscle disease 2 |
|
| prefLabel |
rippling muscle disease 2 |
|
| subClassOf |