loading...| Preferred Name |
Lesch-Nyhan syndrome |
| Synonyms |
Hypoxanthine-guanine-phosphoribosyltransferase deficiency |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_1919 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
NCI:C61255 MESH:D007926 OMIM:300322 ICD10CM:E79.1 SNOMEDCT_US_2022_09_01:190918000 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 hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. |
| has exact synonym |
Hypoxanthine-guanine-phosphoribosyltransferase deficiency hypoxanthine guanine phosphoribosyltransferase deficiency deficiency of IMP pyrophosphorylase X-linked hyperuricemia Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Lesch - Nyhan syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:1919 |
| in_subset | |
| label |
Lesch-Nyhan syndrome |
| notation |
DOID:1919 |
| prefLabel |
Lesch-Nyhan syndrome |
| subClassOf |