Term Name:	Lesch-Nyhan syndrome
Synonyms:	Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, deficiency of IMP pyrophosphorylase, HG-PRT deficiency, HPRT1 deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency, Lesch - Nyhan syndrome, X-linked hyperuricemia
Definition:	A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Ontology:	Human Disease [DOID:1919]   ( DOID:1919 )