| 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 |
| C1845667 | RETINITIS PIGMENTOSA 3 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | disease of anatomical entity | 2 | 17 |