Aortic valve disease 1

Definition

Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene.

Also known as aortic valve disease 1, aortic valve disease caused by mutation in NOTCH1, AOVD1, NOTCH1 aortic valve disease — per MONDO

Also identified as

• DOID 0080333 per MONDO
• OMIM 109730 per MONDO
• UMLS C3887892 per MONDO