| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0015397 | Disorder of eye | group | Eye Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the eye | 211 |
| C1384666 | hearing impairment | phenotype | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the ear | 84 |
| C1836199 | DEAFNESS, AUTOSOMAL RECESSIVE 48 | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | |
| C3553944 | USHER SYNDROME, TYPE IJ | disease | Disease or Syndrome | genetic disease; syndrome | 1 |