| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0154860 | Hereditary retinal dystrophy | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity; syndrome | 40 | |
| C0021364 | Male infertility | phenotype | Male Urogenital Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the genitourinary system | 9 |
| C4747737 | RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 |