| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0005744 | Blepharophimosis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Congenital Abnormality | disease of anatomical entity | Abnormality of head or neck | 93 |