Lesch-Nyhan syndrome
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
MONDO:0002254
syndromic disease
is_a
MONDO:0016088
hypoxanthine-guanine phosphoribosyltransferase deficiency
is_a
HPRT complete deficiency
exact
HPRT deficiency grade IV
exact
LNS
related
Lesch Nyhan Syndrome
exact
Lesch Nyhan disease
related
Lesch Nyhan syndrome
related
Lesch-Nyhan syndrome
exact
Lesch-Nyhan syndrome, X-linked recessive
exact
X-linked hyperuricemia
exact
X-linked hyperuricemia (disorder) [ambiguous]
exact
complete hypoxanthine-guanine phosphoribosyltransferase deficiency
exact
deficiency of IMP pyrophosphorylase
exact
hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
related
hypoxanthine guanine phosphoribosyltransferase complete deficiency
exact
hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
exact
SPAC23C11.13c