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DOID:1919 - Lesch-Nyhan syndrome
Disease Ontology 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 hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.
Synonyms: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, HG-PRT deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder), Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous], Hypoxanthine-guanine-phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]), Lesch - Nyhan syndrome, Lesch-Nyhan syndrome (disorder), X-linked hyperuricemia, X-linked hyperuricemia (disorder) [Ambiguous], deficiency of IMP pyrophosphorylase, hypoxanthine guanine phosphoribosyltransferase deficiency,
Xenbase Genes
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hprt1
| MONDO:0010298 - Lesch-Nyhan syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
purine-pyrimidine metabolic disorder (is_a)