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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02453 | Congenital heart defects and ectodermal dysplasia | ... teeth and nail defects) and limb abnormalities. CHDED individuals with de novo missense mutations in PRKD1 have been identified. PRKD1 encodes a serine/threonine protein kinase that regulates diverse cellular ... | Congenital malformation | PRKD1 [HSA:5587] [KO:K06070] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |