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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01896 | Aplasia cutis congenita | ... syndromes such as Adams-Oliver syndrome and Johanson-Blizzard syndrome. A mutation in the ribosomal GTPase BMS1 is identified in ACC. BMS1 has a role in processing of pre-rRNAs of the small ribosomal subunit ... | Congenital malformation | BMS1 [HSA:9790] [KO:K14569] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |