Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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obsolete Abnormal test result (HP:0500014)help
..Starting node
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Abnormal cardiac test (HP:0500015)help
Term ID: 500015
Name: Abnormal cardiac test
Synonym:
Definition: Abnormal test result of cardiovascular physiology.
Comments:
Reference: HP:0500015
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal EKG (HP:0003115) help
................... HP:0005135 Abnormal T-wave
................... HP:0012249 Abnormal ST segment
................... HP:0012272 J wave
................... HP:0025070 Abnormal U wave
................... HP:0025074 Abnormal QRS complex
................... HP:0031547 Abnormal QT interval
................... HP:0031593 Abnormal PR interval
................... HP:0031595 Abnormal P wave
................... HP:0031596 Abnormal PR segment
........expandAbnormal echocardiogram (HP:0003116) help
................... HP:0012664 Reduced ejection fraction
................... HP:0012667 Regional left ventricular wall motion abnormality
........expandAbnormal cardiac MRI (HP:0500016) help
........expandAbnormal cardiac catheterization (HP:0500017) help
........expandAbnormal cardiac exercise stress test (HP:0500018) help
........expandAbnormal resting energy expenditure from metabolic cart test (HP:0500019) help
........expandAbnormal cardiac biomarker test (HP:0500020) help
................... HP:0410173 Increased troponin I level in blood
................... HP:0410174 Increased troponin T level in blood

 Sister Nodes: 
..expandAbnormal flow cytometry test result (HP:0031550) 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:0500015HP:0500015Abnormal cardiac test0AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0500015HP:0500015Abnormal cardiac test0ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0500015HP:0500015Abnormal cardiac test0CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0500015HP:0500015Abnormal cardiac test0CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0500015HP:0500015Abnormal cardiac test0CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0500015HP:0500015Abnormal cardiac test0CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0500015HP:0500015Abnormal cardiac test0CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0500015HP:0500015Abnormal cardiac test0DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0500015HP:0500015Abnormal cardiac test0KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0500015HP:0500015Abnormal cardiac test0KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0500015HP:0500015Abnormal cardiac test0KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0500015HP:0500015Abnormal cardiac test0KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0500015HP:0500015Abnormal cardiac test0KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0500015HP:0500015Abnormal cardiac test0NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0500015HP:0500015Abnormal cardiac test0NPPA CL E G H48787939ORPHA:1344Atrial standstill13
HP:0500015HP:0500015Abnormal cardiac test0SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0500015HP:0500015Abnormal cardiac test0SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0500015HP:0500015Abnormal cardiac test0SCN5A CL E G H633110593ORPHA:1344Atrial standstill1134
HP:0500015HP:0500015Abnormal cardiac test0SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0500015HP:0500015Abnormal cardiac test0SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0500015HP:0500015Abnormal cardiac test0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0500015HP:0500015Abnormal cardiac test0TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0500015HP:0500015Abnormal cardiac test0TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0500015HP:0500015Abnormal cardiac test0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0500015HP:0500019Abnormal resting energy expenditure from metabolic cart test1 CL E G H
HP:0500015HP:0500017Abnormal cardiac catheterization1 CL E G H
HP:0500015HP:0500016Abnormal cardiac MRI1 CL E G H
HP:0500015HP:0500018Abnormal cardiac exercise stress test1AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional289
HP:0500015HP:0500018Abnormal cardiac exercise stress test1ANK2 CL E G H287493ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional539
HP:0500015HP:0500018Abnormal cardiac exercise stress test1CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional572
HP:0500015HP:0500018Abnormal cardiac exercise stress test1CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional18
HP:0500015HP:0500018Abnormal cardiac exercise stress test1CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional13
HP:0500015HP:0500018Abnormal cardiac exercise stress test1CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional16
HP:0500015HP:0500018Abnormal cardiac exercise stress test1CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional148
HP:0500015HP:0500020Abnormal cardiac biomarker test1DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0500015HP:0500018Abnormal cardiac exercise stress test1KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional148
HP:0500015HP:0500018Abnormal cardiac exercise stress test1KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional43
HP:0500015HP:0500018Abnormal cardiac exercise stress test1KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional901
HP:0500015HP:0500018Abnormal cardiac exercise stress test1KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional128
HP:0500015HP:0500018Abnormal cardiac exercise stress test1KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional730
HP:0500015HP:0500018Abnormal cardiac exercise stress test1NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional4
HP:0500015HP:0500020Abnormal cardiac biomarker test1NPPA CL E G H48787939ORPHA:1344Atrial standstill13
HP:0500015HP:0500018Abnormal cardiac exercise stress test1SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional146
HP:0500015HP:0500018Abnormal cardiac exercise stress test1SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional110
HP:0500015HP:0500020Abnormal cardiac biomarker test1SCN5A CL E G H633110593ORPHA:1344Atrial standstill1134
HP:0500015HP:0500018Abnormal cardiac exercise stress test1SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional1134
HP:0500015HP:0500018Abnormal cardiac exercise stress test1SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional118
HP:0500015HP:0500020Abnormal cardiac biomarker test1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0500015HP:0500018Abnormal cardiac exercise stress test1TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional123
HP:0500015HP:0500018Abnormal cardiac exercise stress test1TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndromeHP:0040283 - Occasional145
HP:0500015HP:0500020Abnormal cardiac biomarker test1TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0500015HP:0410173Increased circulating troponin I concentration2DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0500015HP:0410174Increased circulating troponin T concentration2NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040282 - Frequent13
HP:0500015HP:0410174Increased circulating troponin T concentration2SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040282 - Frequent1134
HP:0500015HP:0410173Increased circulating troponin I concentration2SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0500015HP:0410174Increased circulating troponin T concentration2TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107


Genes (23) :AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 DSG2 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 NOS1AP NPPA SCN10A SCN4B SCN5A SNTA1 SVIL TBX5 TRDN TTR

Diseases (5) :ORPHA:101016 OMIM:610193 ORPHA:1344 OMIM:619040 ORPHA:85451
 

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