| Disease ID | Source | Name | Description |
| 606217 | OMIM | Atrioventricular septal defect 2 (AVSD2) | A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. Disease susceptibility is associated with variants affecting the gene represented in this entry. |