Source: GENOMICS_ENGLAND
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1852989 | Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | Disease or Syndrome | 1 |