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glycogen storage disease V

Disease Summary
Associated Targets (3)
Tchem

2

Tclin

1


GARD Rare
Mondo Description Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.
Uniprot Description A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.
Mondo Term and Equivalent IDs
MONDO:0009293:  glycogen storage disease V
GARD:0006528: 
MESH:D006012: 
NCIT:C84738: 
Orphanet:368: 
SCTID:55912009: 
UMLS:C0017924: