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ventricular septal defect 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.
Uniprot Description A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.
Mondo Term and Equivalent IDs
MONDO:0013749:  ventricular septal defect 3
UMLS:C3280785: