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atrioventricular septal defect, susceptibility to, 2

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 CRELD1 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:0011650:  atrioventricular septal defect, susceptibility to, 2
MESH:C565249: