Human genes for phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase 1 deficiency [DOID:0111933]
A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1.
Synonyms: phosphoglycerate kinase 1 deficiency, DOID:0111933, glycogenosis due to phosphoglycerate kinase 1 deficiency, glycogen storage disease due to phosphoglycerate kinase 1 deficiency, GSD due to phosphoglycerate kinase 1 deficiency ...