glycogen storage disease VII
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.
MONDO:0002412
disorder of glycogen metabolism
is_a
MONDO:0003689
familial hemolytic anemia
is_a
MONDO:0017688
disorder of glycolysis
is_a
MONDO:0020585
anemia due to erythrocyte enzyme disorder
is_a
GSD due to muscle phosphofructokinase deficiency
exact
GSD type 7
exact
GSD type VII
exact
GSD7
related
GSDVII
exact
Glycogen Storage Disease Type 7
exact
PFKM glycogen storage disease
exact
Tarui disease
exact
glycogen storage disease VII
exact
glycogen storage disease caused by mutation in PFKM
exact
glycogen storage disease type 7
exact
glycogen storage disease type VII
exact
glycogenosis due to muscle phosphofructokinase deficiency
exact
glycogenosis type 7
exact
glycogenosis type VII
exact
phosphofructokinase deficiency
exact
SPBC16H5.02