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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
autosomal dominant Emery-Dreifuss muscular dystrophy 2  
autosomal dominant limb-girdle muscular dystrophy type 1  
autosomal dominant limb-girdle muscular dystrophy type 1H 
autosomal dominant limb-girdle muscular dystrophy type 2  
autosomal dominant limb-girdle muscular dystrophy type 3  
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4  
myofibrillar myopathy 3  
rippling muscle disease 2  
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. (DO)

Synonyms
Exact Synonyms: LGMD1C ;   RMD ;   RMD2 ;   autosomal dominant limb-girdle muscular dystrophy type 1C ;   caveolinopathy ;   limb-girdle muscular dystrophy due to caveolin-3 deficiency ;   limb-girdle muscular dystrophy type 1C ;   limb-girdle muscular dystrophy type 1C, autosomal recessive ;   muscular dystrophy limb-girdle type IC
Narrow Synonyms: rippling muscle disease 2, autosomal recessive
Primary IDs: MESH:C563362
Alternate IDs: DOID:0110302 ;   OMIM:606072
Xrefs: GARD:9164 ;   NCI:C148318 ;   NCI:C148325 ;   ORDO:265 ;   ORDO:97238
Definition Sources: http://ghr.nlm.nih.gov/condition/rippling-muscle-disease "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9537420 "DO" "DO"

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