CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
---|---|---|---|---|---|---|---|
C1852597 | Arthrogryposis, distal, type 2E | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | Disease or Syndrome | disease of anatomical entity | 3 |