Human Gene Set: HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT
Standard name
HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT
Systematic name
M46206
Brief description
Unbalanced atrioventricular canal defect
Full description or abstract
Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). [HPO_CONTRIBUTOR:DDD_dbrown, PMID:20837915]
