loading...| Preferred Name | rippling muscle disease 2 | |
| Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1C |
|
| Definitions |
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. NT MGI. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060255 |
|
| comment |
NT MGI. |
|
| alternative label |
autosomal dominant limb-girdle muscular dystrophy type 1C |
|
| created by |
emitraka |
|
| creation_date |
2015-01-29T16:51:43Z |
|
| database_cross_reference |
OMIM:606072 UMLS_CUI:C1853698 SNOMEDCT_US_2023_03_01:709281006 GARD:9164 ORDO:265 ORDO:97238 |
|
| definition |
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. NT MGI. |
|
| has exact synonym |
autosomal dominant limb-girdle muscular dystrophy type 1C |
|
| has material basis in | ||
| has_alternative_id |
DOID:0110302 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060255 |
|
| in_subset | ||
| label |
rippling muscle disease 2 |
|
| notation |
DOID:0060255 |
|
| note |
A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. NT MGI. |
|
| preferred label |
rippling muscle disease 2 |
|
| prefLabel |
rippling muscle disease 2 |
|
| subClassOf |