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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00920 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | ... exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutations in COX4I2, an essential component of cytochrome c oxidase complex expressed in acinar cells, lead to failure ... | Inherited metabolic disorder, Mitochondrial disease | COX4I2 [HSA:84701] [KO:K02263] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |