Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Id http://purl.obolibrary.org/obo/MONDO_0013902
http://purl.obolibrary.org/obo/MONDO_0013902
Preferred Name

aortic valve disease 2
Definitions
Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
Synonyms
aortic valve stenosis
bicuspid aortic valve
AOVD2
SMAD6 aortic valve disease
aortic valve disease type 2
aortic valve disease 2
aortic valve disease caused by mutation in SMAD6
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
altLabel
aortic valve stenosis
bicuspid aortic valve
AOVD2
SMAD6 aortic valve disease
aortic valve disease type 2
aortic valve disease 2
aortic valve disease caused by mutation in SMAD6
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label
aortic valve disease 2
prefLabel
aortic valve disease 2
has_related_synonym
aortic valve stenosis
bicuspid aortic valve
AOVD2
prefixIRI
MONDO:0013902
textual definition
Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
subClassOf
type
has_exact_synonym
SMAD6 aortic valve disease
aortic valve disease type 2
aortic valve disease 2
aortic valve disease caused by mutation in SMAD6
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