has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of PRPS1 ribose phosphate diphosphokinase activity phosphoribosylpyrophosphate synthetase superactivity https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/phosphoribosylpyrophosphate_synthetase_superactivity UMLS:C1970827 gout, PRPS-related, X-linked recessive GARD:0004337 MEDGEN:370358 Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). Orphanet:3222 PRPS1 superactivity SCTID:723454008 MESH:C567064 OMIM:300661 PRPP synthetase superactivity MONDO:0010395 DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive phosphoribosylpyrophosphate synthetase superactivity inborn disorder of purine metabolism obsolete nephropathy secondary to a storage or other metabolic disease