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Mondo Disease Ontology
Last uploaded:
November 25, 2024
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| Preferred Name | aortic valve disease 2 | |
| 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 |
|
| Definitions |
Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0013902 |
|
| database_cross_reference |
MEDGEN:762200 DOID:0080334 OMIM:614823 UMLS:C3542024 GARD:18471
|
|
| definition |
Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
|
|
| has_exact_synonym |
SMAD6 aortic valve disease aortic valve disease type 2 aortic valve disease 2 aortic valve disease caused by mutation in SMAD6
|
|
| has_related_synonym |
aortic valve stenosis bicuspid aortic valve AOVD2
|
|
| id |
MONDO:0013902
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
| label |
aortic valve disease 2
|
|
| notation |
MONDO:0013902
|
|
| prefLabel |
aortic valve disease 2
|
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C3542024 |
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| treeView | ||
| subClassOf |
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