| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1851402 | Exudative vitreoretinopathy 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 4 | 10 | |
| C3554449 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 | disease | Disease or Syndrome | genetic disease; disease of mental health | 1 | 21 |