| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1834523 | ARTHROGRYPOSIS, DISTAL, TYPE 2B | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | disease of anatomical entity | 3 |