Preferred Name |
aortic valve disease 1 |
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Synonyms |
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|
Definitions |
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. |
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ID |
http://purl.obolibrary.org/obo/DOID_0080333 |
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database_cross_reference |
OMIM:109730 |
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definition |
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. |
|
has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0080333 |
|
label |
aortic valve disease 1 |
|
notation |
DOID:0080333 |
|
prefLabel |
aortic valve disease 1 |
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subClassOf |
Create mapping