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atrial septal defect 8

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.
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.
Disease Ontology Description An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3.
Mondo Term and Equivalent IDs
MONDO:0013750:  atrial septal defect 8