aortic valve disease 3

Term ID

DOID:0080977

Synonyms

Definition

A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. https://pubmed.ncbi.nlm.nih.gov/30455415/

References

• OMIM:618496

Ontology

Human Disease   ( DOID:0080977 )