OBO ID: DOID:0111933 |
Term Name: | phosphoglycerate kinase 1 deficiency | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111933 ) |
OTHER phosphoglycerate kinase 1 deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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