| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C3860213 | Autoinflammatory disorder | disease | Disease or Syndrome | 35 | |||
| C1864445 | Histiocytosis with joint contractures and sensorineural deafness | disease | Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases | Disease or Syndrome | genetic disease | 1 |