| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0035334 | Retinitis Pigmentosa | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the eye | 88 | 420 |
| C3281045 | CONE-ROD DYSTROPHY 16 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 2 | 3 | ||
| C4319932 | BARDET-BIEDL SYNDROME 21 | disease | Disease or Syndrome | 2 | 2 |