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atrioventricular septal defect 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.
Uniprot Description A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Mondo Term and Equivalent IDs
MONDO:0013769:  atrioventricular septal defect 5
UMLS:C3280939: