DISEASE NAME | Holoprosencephaly |
DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
DISEASE ID (ICD10) | Q04.2 |
DISEASE ID (OMIM) | 609637; 610828; 610829; 612530; 614226; 142945; 142946; 147250; 157170; 236100; 605934; 609408 |
11 combinations linked to 2162 | OLI407; OLI678; OLI679; OLI680; OLI681; OLI682; OLI683; OLI684; OLI685; OLI686; OLI687 |
11 gene combinations linked to 2162 | DISP1; SHH; FAT1; NDST1; SHH; COL2A1; FAT1; NDST1; FAT1; LRP2; COL2A1; FAT1; PTCH1; BOC; HIC1; SCUBE2; BOC; SCUBE2; SHH; STK36; WNT4; B9D1; CELSR1; IFT172; PRICKLE1; CELSR1; LRP2; MKS1; SHH; SIX3; TCTN3; TULP3 |
ORPHANET ID | 2162 |