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| Term | HRPT-related hyperuricemia | ID (Ontology) | DOID:0112127 (Human Disease) |
| Definition | A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. | ||
| Also Known As | "HPRT deficiency, grade I" ; "HPRT partial deficiency" ; "HPRT-related gout" (for all, see Synonyms field below) | ||
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disease of metabolism |__inherited metabolic disorder__ X-linked monogenic disease | |__X-linked recessive disease____| acquired metabolic disease | |__hyperuricemia_________________| genetic disease | |__inherited metabolic disorder__| HRPT-related hyperuricemia |
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X-linked recessive disease hyperuricemia inherited metabolic disorder |
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MIM:300323 ORDO:79233 |
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