| Metadata | |
|---|---|
| ID | DOID:1919 |
| Name | Lesch-Nyhan syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/31182398/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:190918000 |
| Subsets |
NCIthesaurus |
| Synonyms |
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency [EXACT] deficiency of IMP pyrophosphorylase [EXACT] HG-PRT deficiency [EXACT] hypoxanthine guanine phosphoribosyltransferase deficiency [EXACT] Hypoxanthine-guanine phosphoribosyltransferase deficiency [EXACT] Hypoxanthine-guanine-phosphoribosyltransferase deficiency [EXACT] Lesch - Nyhan syndrome [EXACT] X-linked hyperuricemia [EXACT] |
| Parent Relationships |