Human Phenotype Ontology 
Grandparent Node:
expandCongenital malformation of the right heart (HP:0011723)help
Grandparent Node:
expandConotruncal defect (HP:0001710)help
Parent Node:
expandDouble outlet right ventricle (HP:0001719)help
..Starting node
..expandDouble outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis (HP:0011652)help
Term ID: 11652
Name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
Synonym: DORV with doubly committed VSD; Double outlet right ventricle, doubly committed ventricular septal defect
Definition: A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Comments:
Reference: HP:0011652
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDouble outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (HP:0011651) help
..expandDouble outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis (HP:0011653) help
..expandDouble outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis (HP:0011654) help
..expandDouble outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis (HP:0011655) help
..expandDouble outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis (HP:0011656) help
..expandDouble outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis (HP:0011657) help
..expandDouble outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis (HP:0011658) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011652HP:0011652Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis0 CL E G H


Genes (0) :

Diseases (0) :
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.