Aortic valve disease 2

Definition

Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.

Also known as aortic valve disease 2, aortic valve disease caused by mutation in SMAD6, aortic valve disease type 2, SMAD6 aortic valve disease — per MONDO

Also identified as

• DOID 0080334 per MONDO
• OMIM 614823 per MONDO
• UMLS C3542024 per MONDO