Lesch-Nyhan syndrome Disease Ontology Browser

Disease Ontology Browser

Lesch-Nyhan syndrome (DOID:1919)
Alliance: disease page
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
Alt IDs: OMIM:300322, ICD10CM:E79.1, MESH:D007926, NCI:C61255, UMLS_CUI:C0023374
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.

Disease References using Mouse Models (4)

Allelic Composition	Genetic Background	Reference	Phenotypes
Hprt1b-m3/Hprt1b-m3	B6.129P2-Hprt1^b-m3	J:17798	View
Hprt1b-m3/Y	B6.129P2-Hprt1^b-m3	J:17798, J:107966	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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