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Summary Literature (0)
DOID:1919 - Lesch-Nyhan syndrome


Disease Ontology Definition:n_a

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

In OMIM:
OMIM:300322 - LESCH-NYHAN SYNDROME; LNS

In Mondo Disease Ontology:
MONDO:0010298 - Lesch-Nyhan syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hprt1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): purine-pyrimidine metabolic disorder (is_a)