Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00194 |
Lesch-Nyhan syndrome Hypoxanthine-guanine phosophoribosyltransferase deficiency |
Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological ... | Inherited metabolic disorder | HPRT1 [HSA:3251] [KO:K00760] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |