Lesch-Nyhan Syndrome
Disease ID: disease_node_4642
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| Dbxref | ICD10CM:E79.1, MESH:D007926, MIM:300322, NCI:C61255, SNOMEDCT_US_2023_03_01:190918000, UMLS_CUI:C0023374 |
|---|---|
| Subclassof | DOID_0080012, DOID_653 |
| Data Source | DOID, MESH |
| Synonyms | Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, HG-PRT deficiency, HPRT1 deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency, Lesch - Nyhan syndrome, X-linked hyperuricemia, deficiency of IMP pyrophosphorylase, hypoxanthine guanine phosphoribosyltransferase deficiency |
| Mesh Id | D007926 |
| Mesh Label | Lesch-Nyhan Syndrome |
| Mesh Subclassof | D038901, D020739, D011686 |
| Doid Label | Lesch-Nyhan syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_4642 |
| Doid Id | DOID_1919 |
| Label | Lesch-Nyhan Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Purine-Pyrimidine Metabolic Disorder(ID:disease_node_17499) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)