Term Name:
aortic valve disease 1
Synonyms:
Definition:
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.
Ontology:
Human Disease [DOID:0080333] (
DOID:0080333
)
Relationships
is a type of:
autosomal dominant disease
bicuspid aortic valve disease