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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01412 | Perlman syndrome | ... macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in DIS3L2 cause this disease. | Congenital malformation | DIS3L2 [HSA:129563] [KO:K18758] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |