|
DOID:1919 - Lesch-Nyhan syndrome
Disease Ontology Definition:n_a
Synonyms: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, HG-PRT deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder), Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous], Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]), Lesch - Nyhan syndrome, Lesch-Nyhan syndrome (disorder), X-linked hyperuricemia (disorder) [Ambiguous], deficiency of IMP pyrophosphorylase, hypoxanthine guanine phosphoribosyltransferase deficiency,
Echinobase Genes
:
hprt1
| MIM:300322 - lesch-nyhan syndrome; lns |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
purine-pyrimidine metabolic disorder (is_a)