loading...| Preferred Name | RIPPLING MUSCLE DISEASE 2 | |
| Synonyms |
RIPPLING MUSCLE DISEASE RMD2 LGMD1C, FORMERLY MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, FORMERLY RMD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/606072 |
|
| altLabel |
RIPPLING MUSCLE DISEASE RMD2 LGMD1C, FORMERLY MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, FORMERLY RMD |
|
| cui |
C1853698 C1832560 |
|
| Gene Locus |
3p25 |
|
| Gene Symbol |
CAV3 LQT9 MPDT RMD2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004174 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU004170 http://purl.bioontology.org/ontology/OMIM/MTHU004175 http://purl.bioontology.org/ontology/OMIM/MTHU004172 http://purl.bioontology.org/ontology/OMIM/MTHU002775 http://purl.bioontology.org/ontology/OMIM/MTHU004176 http://purl.bioontology.org/ontology/OMIM/MTHU004171 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
607801 |
|
| notation |
606072 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
RIPPLING MUSCLE DISEASE 2 |
|
| Scope Statement |
Caused by mutations in the caveolin 3 gene (CAV3, 601253.0001) [MOLECULAR BASIS] Autosomal recessive inheritance has been reported (see 601253.0010) [MISCELLANEOUS] Mean age of onset 22 years (range 5-54) [MISCELLANEOUS] |
|
| tui |
T047 |