Term Name: HRPT-related hyperuricemia
Synonyms: HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, hypoxanthine guanine phosphoribosyltransferase partial deficiency, Kelley-Seegmiller syndrome
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.
Ontology: Human Disease [DOID:0112127]   ( DOID:0112127 )

Relationships
is a type of: hyperuricemia inherited metabolic disorder X-linked recessive disease