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Echinobase
Summary Literature (0)
DOID:0080333 - aortic valve disease 1

Disease Ontology Definition:A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.

Synonyms:

Echinobase Genes : notch1


OMIM:
MIM:109730 - aortic valve disease 1; aovd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)