Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cardiac atrium morphology (HP:0005120)help
Parent Node:
expandAbnormal coronary sinus morphology (HP:0011642)help
..Starting node
..expandCoronary sinus atrial septal defect (HP:0011643)help
Term ID: 11643
Name: Coronary sinus atrial septal defect
Synonym:
Definition: An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.
Comments:
Reference: HP:0011643
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent coronary sinus (HP:0031783) help
..expandCoronary sinus diverticulum (HP:0011644) help
..expandCoronary sinus enlargement (HP:0031298) help
..expandUnroofed coronary sinus (HP:0031297) 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:0011643HP:0011643Coronary sinus atrial septal 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.