Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cardiac septum morphology (HP:0001671)help
Parent Node:
expandAtrioventricular canal defect (HP:0006695)help
..Starting node
..expandPartial atrioventricular canal defect (HP:0011577)help
Term ID: 11577
Name: Partial atrioventricular canal defect
Synonym:
Definition: A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.
Comments:
Reference: HP:0011577
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandComplete atrioventricular canal defect (HP:0001674) help
..expandIntermediate atrioventricular canal defect (HP:0011576) help
..expandPrimum atrial septal defect (HP:0010445) help
..expandTransitional atrioventricular canal defect (HP:0011578) 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:0011577HP:0011577Partial atrioventricular canal defect0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011577HP:0011577Partial atrioventricular canal defect0DOHH CL E G H8347528662OMIM:620066


Genes (2) :CFAP45 DOHH

Diseases (2) :OMIM:619608 OMIM:620066
 

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