has material basis in germline mutation in
HPRT1
hypoxanthine guanine phosphoribosyltransferase partial deficiency
https://github.com/monarch-initiative/mondo/issues/4521
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
GARD:16710
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
hypoxanthine-guanine phosphoribosyltransferase deficiency