| Disease ID | Source | Name | Description |
| 610187 | OMIM | Diaphragmatic hernia 3 (DIH3) | Form of congenital diaphragmatic hernia (CDH). CDH refers to a group of congenital defects in the structural integrity of the diaphragm associated with often lethal pulmonary hypoplasia and pulmonary hypertension. The disease is caused by variants affecting the gene represented in this entry. |
| 616067 | OMIM | 46,XY sex reversal 9 (SRXY9) | A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia. The disease is caused by variants affecting the gene represented in this entry. |
| 217095 | OMIM | Conotruncal heart malformations (CTHM) | A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. The disease is caused by variants affecting the gene represented in this entry. |
| 187500 | OMIM | Tetralogy of Fallot (TOF) | A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. The disease may be caused by variants affecting the gene represented in this entry. |