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Summary Literature (0)
DOID:0112127 - HRPT-related hyperuricemia

Disease Ontology 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 HPRT1 on chromosome Xq26.2-q26.3.

Synonyms: HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, Kelley-Seegmiller syndrome, hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, hypoxanthine guanine phosphoribosyltransferase partial deficiency


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hprt1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): hyperuricemia (is_a)