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DO Term : phosphoglycerate kinase 1 deficiency [DOID:0111933] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:7389,
  • ORDO:713,
  • 300653,
  • PGK1 deficiency,
  • OMIM:300653,
  • MESH:C567067,
  • UMLS_CUI:C1970848,
  • GSD due to phosphoglycerate kinase 1 deficiency,
  • NCI:C126738,
  • glycogenosis due to phosphoglycerate kinase 1 deficiency,
  • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
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