Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080977 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models