| 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 | 2 | 21 | |
| C0432252 | Osteoporosis with pseudoglioma | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | Disease or Syndrome | genetic disease | 1 | 18 |