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aortic aneurysm, familial thoracic 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0012730:  aortic aneurysm, familial thoracic 6
MESH:C567085: 
UMLS:C2673186: