| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1852767 | Hereditary macular coloboma | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | disease of anatomical entity | Abnormality of the eye | 11 | 0 |