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| Term | phosphoribosylpyrophosphate synthetase superactivity | ID (Ontology) | DOID:0111260 (Human Disease) |
| 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. | ||
| Also Known As | "PRPP synthetase superactivity" ; "PRPS1 superactivity" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease of metabolism |__inherited metabolic disorder__ X-linked monogenic disease | |__X-linked recessive disease____| genetic disease | |__inherited metabolic disorder__| phosphoribosylpyrophosphate synthetase superactivity 1 rec. |
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X-linked recessive disease inherited metabolic disorder |
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External Crossreferences & Linkouts
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MESH:C567064 MIM:300661 ORDO:3222 SNOMEDCT_US_2023_03_01:723454008 UMLS_CUI:C1970827 |
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