Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the cardiovascular system (HP:0001626)help
Parent Node:
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Abnormal cardiac test (HP:0500015)help
Parent Node:
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Abnormal cardiovascular system physiology (HP:0011025)help
..Starting node
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Abnormal echocardiogram (HP:0003116)help
Term ID: 3116
Name: Abnormal echocardiogram
Synonym:
Definition:
Comments:
Reference: HP:0003116
Genes and Diseases:
 
       Child Nodes:
........expandReduced ejection fraction (HP:0012664) help
................... HP:0012663 Mildly reduced ejection fraction
................... HP:0012665 Moderately reduced ejection fraction
................... HP:0012666 Severely reduced ejection fraction
........expandRegional left ventricular wall motion abnormality (HP:0012667) help

 Sister Nodes: 
..expandAbnormal cardiac atrial physiology (HP:0025443) help
..expandAbnormal cardiac ventricular function (HP:0030872) help
..expandAbnormal heart sound (HP:0031657) help
..expandAbnormal heart valve physiology (HP:0031653) help
..expandAbnormal systemic blood pressure (HP:0030972) help
..expandAbnormal vascular physiology (HP:0030163) help
..expandAbnormality of blood circulation (HP:0011028) help
..expandAbnormality of cardiovascular system electrophysiology (HP:0030956) help
..expandAngina pectoris (HP:0001681) help
..expandCongestive heart failure (HP:0001635) help
..expandMyocardial infarction (HP:0001658) help
..expandShock (HP:0031273) help
..expandSyncope (HP:0001279) 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:0003116HP:0003116Abnormal echocardiogram0 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.