Source: CLINVAR
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2673760 | DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) | disease | Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 1 |