| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0339510 | Vitelliform Macular Dystrophy | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the eye | 74 | 120 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | disease of anatomical entity | 17 | 32 |