vascular ring Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. (Human Phenotype Ontology, HP_0010775)
External Link
Similar Terms
Downloads & Tools


2 genes associated with the vascular ring phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CREBBP CREB binding protein
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)