Human Phenotype Ontology 
Grandparent Node:
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Abnormal cardiac septum morphology (HP:0001671)help
Parent Node:
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Abnormal atrial septum morphology (HP:0011994)help
..Starting node
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Atrial septal dilatation (HP:0011995)help
Term ID: 11995
Name: Atrial septal dilatation
Synonym: Atrial septal aneurysm
Definition: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.
Comments:
Reference: HP:0011995
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAtrial septal defect (HP:0001631) 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:0011995HP:0011995Atrial septal dilatation0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0011995HP:0011995Atrial septal dilatation0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040282 - Frequent140
HP:0011995HP:0011995Atrial septal dilatation0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52


Genes (2) :ATP6V0A2 COG1

Diseases (3) :OMIM:278250 ORPHA:2834 ORPHA:263508
 

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