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aortic valve disease 2
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
Uniprot Description A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.
Disease Ontology Description A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080334
OMIM:614823
UMLS:C3542024
MONDO:0013902
High level summary of knowledge for a disease, including descriptions and datasource references.