| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1389018 | Atrioventricular Septal Defect | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | disease of anatomical entity | Abnormality of the cardiovascular system | 12 |