| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| 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 | 88 | 257 |
| C1969621 | DEAFNESS, AUTOSOMAL RECESSIVE 63 | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 2 | 6 |