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DOID:0111933 - phosphoglycerate kinase 1 deficiency
Disease Ontology 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.
Synonyms: GSD due to phosphoglycerate kinase 1 deficiency, PGK1 deficiency, glycogen storage disease due to phosphoglycerate kinase 1 deficiency, glycogenosis due to phosphoglycerate kinase 1 deficiency,
Xenbase Genes
:
pgk1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
glucose metabolism disease (is_a)