loading...| Preferred Name |
rippling muscle disease 2 |
| Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1C |
| Definitions |
NT MGI. 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060255 |
| comment |
NT MGI. |
| created_by |
emitraka |
| creation_date |
2015-01-29T16:51:43Z |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:709281006 UMLS_CUI:C1853698 GARD:9164 ORDO:265 OMIM:606072 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. |
| 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 |
| prefLabel |
rippling muscle disease 2 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/606072 | Online Mendelian Inheritance in Man | LOOM |