hypoxanthine guanine phosphoribosyltransferase partial deficiency
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.
MONDO:0016088
hypoxanthine-guanine phosphoribosyltransferase deficiency
is_a
HPRT deficiency, grade I
exact
HPRT partial deficiency
exact
HPRT-related gout
exact
HPRT-related hyperuricemia
exact
HPRT1 partial deficiency
exact
Kelley-Seegmiller syndrome
exact
hyperuricemia, HRPT-related, X-linked recessive
exact
hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
exact
hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
exact
SPAC23C11.13c