MONDO_0016088 (hypoxanthine-guanine phosphoribosyltransferase deficiency) can be described as follows. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. Also known as: HPRT deficiency, HPRT1 deficiency, hypoxanthine-guanine phosphoribosyltransferase 1 deficiency.