Source: ALL
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0009363 | Congenital ocular coloboma (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | disease of anatomical entity | Abnormality of the eye | 129 | 21 |