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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00621 |
Alopecia neurologic defects and endocrinopathy syndrome ANE syndrome |
... and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known to be required for biogenesis of the 60S subunit of the ribosome. | Ribosomopathy | RBM28 [HSA:55131] [KO:K14573] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |