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Entry | Name | Description | Category | Pathway | Gene |
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H02584 | Ferguson-Bonni neurodevelopmental syndrome | ... syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex. ... | Congenital malformation | ANAPC7 [HSA:51434] [KO:K03354] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |