| Disease ID | Source | Name | Description |
| 613780 | OMIM | Aortic aneurysm, familial thoracic 7 (AAT7) | A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. The disease is caused by variants affecting the gene represented in this entry. |
| 249210 | OMIM | Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) | An autosomal recessive disease characterized by loss of smooth muscle contraction in the bladder and intestine, resulting in abnormal intestinal mobility and pseudo-obstruction, microcolon, megacystis, abdominal pain and malnutrition. The disease is caused by variants affecting the gene represented in this entry. |