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glycogen storage disease VII

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
Uniprot Description A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.
Mondo Term and Equivalent IDs
MONDO:0009295:  glycogen storage disease VII
GARD:0005686: 
MESH:D006014: 
NCIT:C118437: 
Orphanet:371: 
SCTID:89597008: 
UMLS:C0017926: