Search Ontology:
Human Disease

phosphoglycerate kinase 1 deficiency

Term ID
DOID:0111933
Synonyms
  • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • glycogenosis due to phosphoglycerate kinase 1 deficiency
  • GSD due to phosphoglycerate kinase 1 deficiency
  • PGK1 deficiency
Definition
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. (3)
References
Ontology
Human Disease   ( DOID:0111933 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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