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Metadata
ID DOID:0080333
Name aortic valve disease 1
Definition A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.
https://www.ncbi.nlm.nih.gov/pubmed/23388002
Xrefs

MIM:109730

Parent Relationships

is_a bicuspid aortic valve disease

is_a autosomal dominant disease

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