| DISEASE NAME | Hirschsprung disease |
| DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
| DISEASE ID (ICD10) | Q43.1 |
| DISEASE ID (OMIM) | 142623; 600155; 600156; 606874; 606875; 608462; 611644; 613711; 613712 |
| 4 combinations linked to 388 | OLI021; OLI035; OLI038; OLI184 |
| 4 gene combinations linked to 388 | BBS1; CCDC28B; GDNF; RET; NKX2-1; RET; EDNRB; RET |
| ORPHANET ID | 388 |