Search Ontology:
Human Disease

aortic valve disease 2

Term ID
DOID:0080334
Synonyms
Definition
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. https://www.ncbi.nlm.nih.gov/pubmed/22275001
References
Ontology
Human Disease   ( DOID:0080334 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations