| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1857484 | Brachyturricephaly | phenotype | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Finding | Abnormality of head or neck; Abnormality of the skeletal system | 1 | 2 |