DO_rare_slim NCIthesaurus has material basis in X-linked recessive disease phosphoglycerate kinase 1 deficiency ORDO:713 MESH:C567067 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 the PGK1 gene on chromosome Xq21.1. GSD due to phosphoglycerate kinase 1 deficiency NCI:C126738 disease_ontology DOID:0111933 UMLS_CUI:C1970848 MIM:300653 GARD:7389 PGK1 deficiency glycogen storage disease due to phosphoglycerate kinase 1 deficiency glycogenosis due to phosphoglycerate kinase 1 deficiency glucose metabolism disease X-linked recessive inheritance