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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01233 |
Urocanase deficiency Urocanic aciduria |
Urocanase deficiency is an autosomal recessive disorder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity of ... | Inherited metabolic disorder | UROC1 [HSA:131669] [KO:K01712] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |