Human Phenotype Ontology 
Grandparent Node:
expandAbnormal spatial orientation of the cardiac segments (HP:0011534)help
Grandparent Node:
expandCongenital malformation of the great arteries (HP:0011603)help
Parent Node:
expandCongenitally corrected transposition of the great arteries (HP:0011540)help
..Starting node
..expandCongenitally corrected transposition of the great arteries with ventricular septal defect (HP:0011605)help
Term ID: 11605
Name: Congenitally corrected transposition of the great arteries with ventricular septal defect
Synonym: CCTGA; ccTGA
Definition: A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.
Comments:
Reference: HP:0011605
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011605HP:0011605Congenitally corrected transposition of the great arteries with ventricular septal defect0PKD1L1 CL E G H16850718053OMIM:617205Heterotaxy, visceral, 8, autosomal3


Genes (1) :PKD1L1

Diseases (1) :OMIM:617205
 

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