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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24