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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02764 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | ... retinitis pigmentosa, and distinctive facies (SHRF) is a newly described disease caused by mutations in EXOSC2. Patients exhibit childhood myopia, early onset retinitis pigmentosa, progressive sensorineural ... | Congenital malformation | EXOSC2 [HSA:23404] [KO:K03679] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |