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Human Disease Ontology
Last uploaded:
November 27, 2024
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| 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 |
|
| 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 | ||
| label |
bicuspid aortic valve disease
|
|
| notation |
DOID:0080332
|
|
| prefLabel |
bicuspid aortic valve disease
|
|
| subClassOf |
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