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ID	DOID:0080977
Name	aortic valve disease 3
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/
Xrefs	MIM:618496
Parent Relationships	is_a bicuspid aortic valve disease is_a autosomal dominant disease