Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
D000293:Adolescent; D000328:Adult; D000749:Anemia, Megaloblastic / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D004912:Erythrocytes / Q000201:enzymology; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000032:analysis / Q000172:deficiency*; D007223:Infant; D007231:Infant, Newborn; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010754:Phosphoribosyl Pyrophosphate / Q000378:metabolism; D011296:Prenatal Diagnosis; D012652:Self Mutilation / Q000235:genetics; D012730:Sex Chromosomes; D014527:Uric Acid / Q000378:metabolism*
D014527:Uric Acid; D010754:Phosphoribosyl Pyrophosphate; D007041:Hypoxanthine Phosphoribosyltransferase