OBO ID: DOID:0111260 |
Term Name: | phosphoribosylpyrophosphate synthetase superactivity | Search Ontology: | |
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Definition: | An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (2) | ||
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Ontology: | Human Disease ( DOID:0111260 ) |
OTHER phosphoribosylpyrophosphate synthetase superactivity PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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