"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."^^ . _:vb50946133 . "ORDO:79233"^^ . "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I"^^ . . "HRPT-related hyperuricemia"^^ . "HPRT deficiency, grade I"^^ . _:vb50946133 . _:vb50946133 . "Kelley-Seegmiller syndrome"^^ . "HPRT partial deficiency"^^ . _:vb50946133 . "HPRT1 partial deficiency"^^ . . "HPRT-related gout"^^ . "HPRT-related hyperuricemia"^^ . "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency"^^ . "OMIM:300323"^^ . "hypoxanthine guanine phosphoribosyltransferase partial deficiency"^^ . . . "disease_ontology"^^ . _:vb50946133 . . "DOID:0112127"^^ .