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GTR Home > Conditions/Phenotypes > Aortic valve disease 3

Aortic valve disease 3

Summary

Aortic valve disease-3 (AOVD3) is characterized by aortic stenosis and/or bicuspid aortic valve (BAV), associated in some patients with aneurysm of the aortic root and/or ascending aorta. Atrial septal defect (ASD) has also been observed in some individuals (Gould et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AOVD3, ECSM4, MRB, ROBO4
    Summary: roundabout guidance receptor 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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