glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
MONDO:0003664
hemolytic anemia
excluded_subClassOf
MONDO:0016118
obsolete muscular glycogenosis (obsolete MONDO:0016118)
excluded_subClassOf
MONDO:0020585
anemia due to erythrocyte enzyme disorder
excluded_subClassOf
MONDO:0002412
disorder of glycogen metabolism
is_a
MONDO:0017688
disorder of glycolysis
is_a
GSD due to phosphoglycerate kinase 1 deficiency
exact
PGK deficiency
related
PGK1 glycogen storage disease
exact
Phosphoglycerate Kinase Deficiency
exact
Phosphoglycerate kinase deficiency
related
glycogen storage disease caused by mutation in PGK1
exact
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
exact
glycogenosis due to phosphoglycerate kinase 1 deficiency
exact
phosphoglycerate kinase 1 deficiency, X-linked recessive
exact
SPBC14F5.04c