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atrial septal defect 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Uniprot Description A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases.
Disease Ontology Description An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
Mondo Term and Equivalent IDs
MONDO:0007173:  atrial septal defect 7
Orphanet:1479: 
UMLS:C3502353: