| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C4072872 | obsolete Rod-cone dystrophy | disease | Disease or Syndrome | 29 | 41 | |||
| C4021806 | Prelingual sensorineural hearing impairment | disease | Disease or Syndrome | Abnormality of the ear | 17 | 7 | ||
| C1848634 | USHER SYNDROME, TYPE IIA | disease | Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease; syndrome | 4 | 314 | |
| C3874334 | Severe hearing loss | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Finding | Abnormality of the ear | 2 | 4 | |
| C3151138 | RETINITIS PIGMENTOSA 39 (disorder) | disease | Disease or Syndrome | disease of anatomical entity | 1 | 276 |