Preferred Name

aortic valve disease 1

Synonyms
Definitions

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

ID

http://purl.obolibrary.org/obo/DOID_0080333

database_cross_reference

OMIM:109730

definition

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

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0080333

label

aortic valve disease 1

notation

DOID:0080333

prefLabel

aortic valve disease 1

subClassOf

http://purl.obolibrary.org/obo/DOID_0080332

http://purl.obolibrary.org/obo/DOID_0050736

Delete Subject Author Type Created
No notes to display