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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01569 | CHOPS syndrome | ... pulmonary involvement, short stature, and skeletal dysplasia. The gain-of-function mutations in the AFF4 gene, encoding a critical component of the super elongation complex (SEC), cause CHOPS syndrome ... | Congenital malformation | AFF4 [HSA:27125] [KO:K15185] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |