Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cardiac septum morphology (HP:0001671)help
Parent Node:
expandAtrioventricular canal defect (HP:0006695)help
..Starting node
..expandTransitional atrioventricular canal defect (HP:0011578)help
Term ID: 11578
Name: Transitional atrioventricular canal defect
Synonym:
Definition: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.
Comments:
Reference: HP:0011578
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandComplete atrioventricular canal defect (HP:0001674) help
..expandIntermediate atrioventricular canal defect (HP:0011576) help
..expandPartial atrioventricular canal defect (HP:0011577) help
..expandPrimum atrial septal defect (HP:0010445) help
..expandUnbalanced atrioventricular canal defect (HP:0011579) 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:0011578HP:0011578Transitional atrioventricular canal defect0 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.