Human Phenotype Ontology 
Grandparent Node:
expandConotruncal defect (HP:0001710)help
Parent Node:
expandTetralogy of Fallot (HP:0001636)help
..Starting node
..expandTetralogy of Fallot with pulmonary stenosis (HP:0011679)help
Term ID: 11679
Name: Tetralogy of Fallot with pulmonary stenosis
Synonym:
Definition: The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.
Comments:
Reference: HP:0011679
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandTetralogy of Fallot with absent pulmonary valve (HP:0011659) help
..expandTetralogy of Fallot with absent subarterial conus (HP:0011676) help
..expandTetralogy of Fallot with atrioventricular canal defect (HP:0011677) help
..expandTetralogy of Fallot with pulmonary atresia (HP:0012516) 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:0011679HP:0011679Tetralogy of Fallot with 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.