has material basis in germline mutation in HPRT1 hypoxanthine guanine phosphoribosyltransferase partial deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/hyperuricemia_hprt_related hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency HPRT1 partial deficiency hyperuricemia, HRPT-related, X-linked recessive SCTID:238007004 MONDO:0010299 Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. UMLS:C0268117 hypoxanthine guanine phosphoribosyltransferase deficiency, grade I Kelley-Seegmiller syndrome DOID:0112127 MEDGEN:82770 KELLEY-Seegmiller syndrome HPRT-related hyperuricemia HPRT partial deficiency hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial HPRT deficiency, grade I ICD9:277.2 Hprt1 deficiency, partial gout, HPRT-related OMIM:300323 HPRT-related gout HPRT deficiency, partial Orphanet:79233 MESH:C562583 GARD:0016710 hypoxanthine-guanine phosphoribosyltransferase deficiency