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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01135 | Ribose 5-phosphate isomerase deficiency | Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral ... | Inherited metabolic disorder | RPIA [HSA:22934] [KO:K01807] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |