| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0221356 | Brachycephaly | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Congenital Abnormality | Abnormality of head or neck; Abnormality of the skeletal system | 186 | 20 |