Preferred Name

aortic valve disease 2
Synonyms
Definitions

A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.

ID

http://purl.obolibrary.org/obo/DOID_0080334

database_cross_reference

OMIM:614823

definition

A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.

has material basis in

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

has_obo_namespace

disease_ontology

id

DOID:0080334

label

aortic valve disease 2

notation

DOID:0080334

note

A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.

preferred label

aortic valve disease 2

prefLabel

aortic valve disease 2

subClassOf

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

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

Delete Subject Author Type Created
No notes to display