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aortic valve disease 1 | RareConnect | RareConnect.io

/familial bicuspid aortic valve

/NOTCH1-related AOS spectrum disorder

/aortic valve disease 1

aortic valve disease 1

Rare Disease

MONDO:0024523

Also Known As

AOVD1NOTCH1 aortic valve diseaseNotch1 aortic valve diseaseaortic valve disease 1aortic valve disease caused by mutation in NOTCH1aortic valve disease caused by mutation in Notch1aortic stenosis, calcificaortic valve diseaseaortic valve, bicuspidaortic valve, calcification ofbicuspid aortic valve

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:109730 ↗

GARD

Related Diseases

aortic valve disease 2

MONDO:0013902

Adams-Oliver syndrome 5

MONDO:0014459

aortic valve disease 3

MONDO:0032783

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