| DISEASE NAME | Congenital diaphragmatic hernia |
| DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
| DISEASE ID (ICD10) | Q79.0 |
| DISEASE ID (OMIM) | 610168; 154700; 142340; 222400; 306950; 610187 |
| 1 combination linked to 2140 | OLI499 |
| 1 gene combination linked to 2140 | DES; FBN1; FREM1; MET; PAX3 |
| ORPHANET ID | 2140 |