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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02762 | Osteo-oto-hepato-enteric syndrome | ... cholestasis, diarrhea, impaired hearing, and bone fragility. It has been reported that mutations in UNC45A cause this syndrome. UNC45A belongs to the conserved UCS protein family of myosin cochaperones ... | Congenital malformation | UNC45A [HSA:55898] [KO:K21991] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |