| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0039685 | Tetralogy of Fallot | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Congenital Abnormality | disease of anatomical entity | Abnormality of the cardiovascular system | 6 | 16 |
| C1857586 | CONOTRUNCAL HEART MALFORMATIONS (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | Disease or Syndrome | disease of anatomical entity | 6 | 7 | |
| C4015129 | 46,XY SEX REVERSAL 9 | disease | Disease or Syndrome | disease of anatomical entity | 1 | 3 |