Search Ontology:
Human Disease
aortic valve disease 3
- Term ID
- DOID:0080977
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models