Link to this page
Human Disease Ontology
Last uploaded:
November 27, 2024
Jump to:
| Preferred Name | aortic valve disease 2 | |
| Synonyms |
|
|
| Definitions |
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080334 |
|
| database_cross_reference |
MIM:614823
|
|
| definition |
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
|
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:0080334
|
|
| label |
aortic valve disease 2
|
|
| notation |
DOID:0080334
|
|
| prefLabel |
aortic valve disease 2
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping