aortic valve disease 1

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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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: notch1

MIM:

MIM:109730 - aortic valve disease 1; aovd1

MIM:109730 - aortic valve disease 1; aovd1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), bicuspid aortic valve disease (is_a)