Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
Preferred Name

bicuspid aortic valve disease
Synonyms

Familial bicuspid aortic valve

Definitions

An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.

ID

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

alternative label

Familial bicuspid aortic valve

database_cross_reference

MIM:PS109730

ORDO:402075

MESH:D000082882

definition

An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.

has exact synonym

Familial bicuspid aortic valve

has_obo_namespace

disease_ontology

id

DOID:0080332

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

bicuspid aortic valve disease

notation

DOID:0080332

note

An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives.

preferred label

bicuspid aortic valve disease

prefLabel

bicuspid aortic valve disease

subClassOf

http://purl.obolibrary.org/obo/DOID_62

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