Terminology Service for NFDI4Health
rippling muscle disease 2
Go to external page
http://purl.obolibrary.org/obo/DOID_0060255
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. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
rippling muscle disease 2
Synonyms
- autosomal dominant limb-girdle muscular dystrophy type 1C
Subsets
DO_rare_slim
comment
NT MGI.
created by
emitraka
creation date
2015-01-29T16:51:43Z
has alternative id
DOID:0110302
has obo namespace
disease_ontology
id
DOID:0060255