hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0020112
vitamin B12- and folate-independent constitutional megaloblastic anemia
excluded_subClassOf
MONDO:0019236
inborn disorder of purine metabolism
is_a
HPRT deficiency
exact
HPRT1 deficiency
exact
hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
exact
SPAC23C11.13c