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
|OMIM:300323 - HYPERURICEMIA, HPRT-RELATED; HRH|
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)