Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001264:Athetosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics; D003192:Compulsive Behavior; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D007042:Hypoxanthines; D008607:Intellectual Disability; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010770:Phosphotransferases / Q000378:metabolism*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D012652:Self Mutilation; D014527:Uric Acid / Q000097:blood
D007042:Hypoxanthines; D014527:Uric Acid; D006147:Guanine; D010770:Phosphotransferases