Human Phenotype Ontology 
Grandparent Node:
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Abnormal cardiac test (HP:0500015)help
Grandparent Node:
expand
Abnormality of cardiovascular system electrophysiology (HP:0030956)help
Parent Node:
expand
Abnormal EKG (HP:0003115)help
..Starting node
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Abnormal QT interval (HP:0031547)help
Term ID: 31547
Name: Abnormal QT interval
Synonym:
Definition: Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Comments:
Reference: HP:0031547
Genes and Diseases:
 
       Child Nodes:
........expandProlonged QT interval (HP:0001657) help
................... HP:0005184 Prolonged QTc interval
........expandShortened QT interval (HP:0012232) help

 Sister Nodes: 
..expandAbnormal P wave (HP:0031595) help
..expandAbnormal PR interval (HP:0031593) help
..expandAbnormal PR segment (HP:0031596) help
..expandAbnormal QRS complex (HP:0025074) help
..expandAbnormal ST segment (HP:0012249) help
..expandAbnormal T-wave (HP:0005135) help
..expandAbnormal U wave (HP:0025070) help
..expandJ wave (HP:0012272) 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:0031547HP:0031547Abnormal QT interval0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0031547HP:0031547Abnormal QT interval0AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11289
HP:0031547HP:0031547Abnormal QT interval0AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0031547HP:0031547Abnormal QT interval0ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0031547HP:0031547Abnormal QT interval0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0031547HP:0031547Abnormal QT interval0ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related539
HP:0031547HP:0031547Abnormal QT interval0ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0031547HP:0031547Abnormal QT interval0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0031547HP:0031547Abnormal QT interval0CACNA1C CL E G H7751390OMIM:620029572
HP:0031547HP:0031547Abnormal QT interval0CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0031547HP:0031547Abnormal QT interval0CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0031547HP:0031547Abnormal QT interval0CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0031547HP:0031547Abnormal QT interval0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0031547HP:0031547Abnormal QT interval0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0031547HP:0031547Abnormal QT interval0CACNA2D1 CL E G H7811399ORPHA:51083Familial short QT syndrome59
HP:0031547HP:0031547Abnormal QT interval0CACNB2 CL E G H7831402OMIM:611876BRUGADA SYNDROME 4; BRGDA4206
HP:0031547HP:0031547Abnormal QT interval0CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0031547HP:0031547Abnormal QT interval0CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0031547HP:0031547Abnormal QT interval0CALM2 CL E G H8051445OMIM:616249Long QT syndrome 1513
HP:0031547HP:0031547Abnormal QT interval0CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0031547HP:0031547Abnormal QT interval0CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0031547HP:0031547Abnormal QT interval0CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0031547HP:0031547Abnormal QT interval0CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0031547HP:0031547Abnormal QT interval0CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0031547HP:0031547Abnormal QT interval0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0031547HP:0031547Abnormal QT interval0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0031547HP:0031547Abnormal QT interval0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0031547HP:0031547Abnormal QT interval0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0031547HP:0031547Abnormal QT interval0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0031547HP:0031547Abnormal QT interval0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0031547HP:0031547Abnormal QT interval0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0031547HP:0031547Abnormal QT interval0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0031547HP:0031547Abnormal QT interval0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0031547HP:0031547Abnormal QT interval0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0031547HP:0031547Abnormal QT interval0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0031547HP:0031547Abnormal QT interval0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0031547HP:0031547Abnormal QT interval0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0031547HP:0031547Abnormal QT interval0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0031547HP:0031547Abnormal QT interval0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0031547HP:0031547Abnormal QT interval0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0031547HP:0031547Abnormal QT interval0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0031547HP:0031547Abnormal QT interval0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0031547HP:0031547Abnormal QT interval0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0031547HP:0031547Abnormal QT interval0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0031547HP:0031547Abnormal QT interval0HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0031547HP:0031547Abnormal QT interval0KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0031547HP:0031547Abnormal QT interval0KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0031547HP:0031547Abnormal QT interval0KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0031547HP:0031547Abnormal QT interval0KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2148
HP:0031547HP:0031547Abnormal QT interval0KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0031547HP:0031547Abnormal QT interval0KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0031547HP:0031547Abnormal QT interval0KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 643
HP:0031547HP:0031547Abnormal QT interval0KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0031547HP:0031547Abnormal QT interval0KCNH2 CL E G H37576251ORPHA:51083Familial short QT syndrome901
HP:0031547HP:0031547Abnormal QT interval0KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0031547HP:0031547Abnormal QT interval0KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0031547HP:0031547Abnormal QT interval0KCNH2 CL E G H37576251OMIM:609620SHORT QT SYNDROME 1; SQT1901
HP:0031547HP:0031547Abnormal QT interval0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0031547HP:0031547Abnormal QT interval0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0031547HP:0031547Abnormal QT interval0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndrome193
HP:0031547HP:0031547Abnormal QT interval0KCNJ2 CL E G H37596263ORPHA:51083Familial short QT syndrome193
HP:0031547HP:0031547Abnormal QT interval0KCNJ2 CL E G H37596263OMIM:609622SHORT QT SYNDROME 3; SQT3193
HP:0031547HP:0031547Abnormal QT interval0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndrome128
HP:0031547HP:0031547Abnormal QT interval0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type III128
HP:0031547HP:0031547Abnormal QT interval0KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13128
HP:0031547HP:0031547Abnormal QT interval0KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0031547HP:0031547Abnormal QT interval0KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0031547HP:0031547Abnormal QT interval0KCNQ1 CL E G H37846294ORPHA:51083Familial short QT syndrome730
HP:0031547HP:0031547Abnormal QT interval0KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0031547HP:0031547Abnormal QT interval0KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1730
HP:0031547HP:0031547Abnormal QT interval0KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0031547HP:0031547Abnormal QT interval0KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0031547HP:0031547Abnormal QT interval0KCNQ1 CL E G H37846294OMIM:609621Short QT syndrome 2730
HP:0031547HP:0031547Abnormal QT interval0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0031547HP:0031547Abnormal QT interval0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0031547HP:0031547Abnormal QT interval0NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0031547HP:0031547Abnormal QT interval0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0031547HP:0031547Abnormal QT interval0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0031547HP:0031547Abnormal QT interval0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0031547HP:0031547Abnormal QT interval0SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0031547HP:0031547Abnormal QT interval0SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0031547HP:0031547Abnormal QT interval0SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0031547HP:0031547Abnormal QT interval0SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0031547HP:0031547Abnormal QT interval0SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0031547HP:0031547Abnormal QT interval0SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0031547HP:0031547Abnormal QT interval0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0031547HP:0031547Abnormal QT interval0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0031547HP:0031547Abnormal QT interval0SLC4A3 CL E G H650811029ORPHA:51083Familial short QT syndrome7
HP:0031547HP:0031547Abnormal QT interval0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0031547HP:0031547Abnormal QT interval0SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0031547HP:0031547Abnormal QT interval0SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0031547HP:0031547Abnormal QT interval0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0031547HP:0031547Abnormal QT interval0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0031547HP:0031547Abnormal QT interval0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0031547HP:0031547Abnormal QT interval0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0031547HP:0031547Abnormal QT interval0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0031547HP:0031547Abnormal QT interval0TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0031547HP:0031547Abnormal QT interval0TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 34
HP:0031547HP:0031547Abnormal QT interval0TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0031547HP:0031547Abnormal QT interval0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0031547HP:0031547Abnormal QT interval0TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0031547HP:0031547Abnormal QT interval0TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB124
HP:0031547HP:0001657Prolonged QT interval1ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare200
HP:0031547HP:0001657Prolonged QT interval1AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11.289
HP:0031547HP:0001657Prolonged QT interval1AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndrome289
HP:0031547HP:0001657Prolonged QT interval1ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 2.3
HP:0031547HP:0001657Prolonged QT interval1ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 27.89
HP:0031547HP:0001657Prolonged QT interval1ANK2 CL E G H287493OMIM:600919Cardiac arrhythmia, ankyrin-b-related.539
HP:0031547HP:0001657Prolonged QT interval1ANK2 CL E G H287493ORPHA:101016Romano-Ward syndrome539
HP:0031547HP:0001657Prolonged QT interval1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0031547HP:0001657Prolonged QT interval1CACNA1C CL E G H7751390OMIM:620029572
HP:0031547HP:0012232Shortened QT interval1CACNA1C CL E G H7751390OMIM:611875BRUGADA SYNDROME 3; BRGDA3572
HP:0031547HP:0001657Prolonged QT interval1CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0031547HP:0001657Prolonged QT interval1CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndrome572
HP:0031547HP:0001657Prolonged QT interval1CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0031547HP:0001657Prolonged QT interval1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional247
HP:0031547HP:0012232Shortened QT interval1CACNA2D1 CL E G H7811399ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate59
HP:0031547HP:0012232Shortened QT interval1CACNB2 CL E G H7831402OMIM:611876BRUGADA SYNDROME 4; BRGDA4206
HP:0031547HP:0001657Prolonged QT interval1CALM1 CL E G H8011442OMIM:616247Long QT syndrome 14.18
HP:0031547HP:0001657Prolonged QT interval1CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndrome18
HP:0031547HP:0001657Prolonged QT interval1CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15.13
HP:0031547HP:0001657Prolonged QT interval1CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndrome13
HP:0031547HP:0001657Prolonged QT interval1CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0031547HP:0001657Prolonged QT interval1CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndrome16
HP:0031547HP:0001657Prolonged QT interval1CAV3 CL E G H8591529OMIM:611818Long QT syndrome 9148
HP:0031547HP:0001657Prolonged QT interval1CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndrome148
HP:0031547HP:0001657Prolonged QT interval1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0031547HP:0012232Shortened QT interval1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040282 - Frequent169
HP:0031547HP:0012232Shortened QT interval1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040282 - Frequent169
HP:0031547HP:0012232Shortened QT interval1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0031547HP:0012232Shortened QT interval1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0031547HP:0012232Shortened QT interval1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0031547HP:0012232Shortened QT interval1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0031547HP:0001657Prolonged QT interval1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040282 - Frequent27
HP:0031547HP:0001657Prolonged QT interval1DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0031547HP:0001657Prolonged QT interval1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040282 - Frequent25
HP:0031547HP:0001657Prolonged QT interval1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0031547HP:0001657Prolonged QT interval1FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0031547HP:0001657Prolonged QT interval1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional
HP:0031547HP:0001657Prolonged QT interval1GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14HP:0040283 - Occasional34
HP:0031547HP:0001657Prolonged QT interval1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0031547HP:0001657Prolonged QT interval1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0031547HP:0001657Prolonged QT interval1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0031547HP:0001657Prolonged QT interval1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0031547HP:0001657Prolonged QT interval1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0031547HP:0001657Prolonged QT interval1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare41
HP:0031547HP:0001657Prolonged QT interval1HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0031547HP:0001657Prolonged QT interval1KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 738
HP:0031547HP:0001657Prolonged QT interval1KCND3 CL E G H37526239OMIM:616399Brugada syndrome 935
HP:0031547HP:0001657Prolonged QT interval1KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0031547HP:0001657Prolonged QT interval1KCNE1 CL E G H37536240OMIM:612347Jervell and lange-nielsen syndrome 2.148
HP:0031547HP:0001657Prolonged QT interval1KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5.148
HP:0031547HP:0001657Prolonged QT interval1KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndrome148
HP:0031547HP:0001657Prolonged QT interval1KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 6.43
HP:0031547HP:0001657Prolonged QT interval1KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndrome43
HP:0031547HP:0012232Shortened QT interval1KCNH2 CL E G H37576251ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate901
HP:0031547HP:0001657Prolonged QT interval1KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2.901
HP:0031547HP:0001657Prolonged QT interval1KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndrome901
HP:0031547HP:0012232Shortened QT interval1KCNH2 CL E G H37576251OMIM:609620SHORT QT SYNDROME 1; SQT1901
HP:0031547HP:0001657Prolonged QT interval1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional10
HP:0031547HP:0001657Prolonged QT interval1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0031547HP:0001657Prolonged QT interval1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent193
HP:0031547HP:0012232Shortened QT interval1KCNJ2 CL E G H37596263ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate193
HP:0031547HP:0012232Shortened QT interval1KCNJ2 CL E G H37596263OMIM:609622SHORT QT SYNDROME 3; SQT3193
HP:0031547HP:0001657Prolonged QT interval1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent128
HP:0031547HP:0001657Prolonged QT interval1KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040283 - Occasional128
HP:0031547HP:0001657Prolonged QT interval1KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13.128
HP:0031547HP:0001657Prolonged QT interval1KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndrome128
HP:0031547HP:0001657Prolonged QT interval1KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0031547HP:0012232Shortened QT interval1KCNQ1 CL E G H37846294ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate730
HP:0031547HP:0001657Prolonged QT interval1KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0031547HP:0001657Prolonged QT interval1KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1.730
HP:0031547HP:0001657Prolonged QT interval1KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0031547HP:0001657Prolonged QT interval1KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndrome730
HP:0031547HP:0012232Shortened QT interval1KCNQ1 CL E G H37846294OMIM:609621Short QT syndrome 2730
HP:0031547HP:0001657Prolonged QT interval1MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0031547HP:0012232Shortened QT interval1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0031547HP:0001657Prolonged QT interval1NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndrome4
HP:0031547HP:0001657Prolonged QT interval1PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndromeHP:0040281 - Very frequent86
HP:0031547HP:0001657Prolonged QT interval1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional4
HP:0031547HP:0001657Prolonged QT interval1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0031547HP:0001657Prolonged QT interval1SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndrome146
HP:0031547HP:0001657Prolonged QT interval1SCN4B CL E G H633010592OMIM:611819Long QT syndrome 10110
HP:0031547HP:0001657Prolonged QT interval1SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndrome110
HP:0031547HP:0001657Prolonged QT interval1SCN5A CL E G H633110593OMIM:603830Long QT syndrome 3.1134
HP:0031547HP:0001657Prolonged QT interval1SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndrome1134
HP:0031547HP:0001657Prolonged QT interval1SCN5A CL E G H633110593OMIM:608567SICK SINUS SYNDROME 1; SSS11134
HP:0031547HP:0001657Prolonged QT interval1SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0031547HP:0001657Prolonged QT interval1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040282 - Frequent145
HP:0031547HP:0012232Shortened QT interval1SLC4A3 CL E G H650811029ORPHA:51083Familial short QT syndromeHP:0040280 - Obligate7
HP:0031547HP:0001657Prolonged QT interval1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0031547HP:0001657Prolonged QT interval1SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0031547HP:0001657Prolonged QT interval1SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndrome118
HP:0031547HP:0001657Prolonged QT interval1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0031547HP:0001657Prolonged QT interval1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0031547HP:0001657Prolonged QT interval1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0031547HP:0001657Prolonged QT interval1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0031547HP:0001657Prolonged QT interval1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0031547HP:0001657Prolonged QT interval1TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndrome123
HP:0031547HP:0001657Prolonged QT interval1TECRL CL E G H25301727365OMIM:614021Ventricular tachycardia, catecholaminergic polymorphic, 3.4
HP:0031547HP:0001657Prolonged QT interval1TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy1
HP:0031547HP:0001657Prolonged QT interval1TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0031547HP:0001657Prolonged QT interval1TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndrome145
HP:0031547HP:0001657Prolonged QT interval1TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB.124
HP:0031547HP:0005184Prolonged QTc interval2AKAP9 CL E G H10142379OMIM:611820Long QT syndrome 11289
HP:0031547HP:0005184Prolonged QTc interval2AKAP9 CL E G H10142379ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate289
HP:0031547HP:0005184Prolonged QTc interval2ALG10B CL E G H14424531088OMIM:613688Long QT syndrome 23
HP:0031547HP:0005184Prolonged QTc interval2ANK2 CL E G H287493ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate539
HP:0031547HP:0005184Prolonged QTc interval2CACNA1C CL E G H7751390OMIM:618447LONG QT SYNDROME 8; LQT8572
HP:0031547HP:0005184Prolonged QTc interval2CACNA1C CL E G H7751390ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate572
HP:0031547HP:0005184Prolonged QTc interval2CALM1 CL E G H8011442OMIM:616247Long QT syndrome 1418
HP:0031547HP:0005184Prolonged QTc interval2CALM1 CL E G H8011442ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate18
HP:0031547HP:0005184Prolonged QTc interval2CALM2 CL E G H8051445OMIM:616249Long QT syndrome 15.13
HP:0031547HP:0005184Prolonged QTc interval2CALM2 CL E G H8051445ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate13
HP:0031547HP:0005184Prolonged QTc interval2CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0031547HP:0005184Prolonged QTc interval2CALM3 CL E G H8081449ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate16
HP:0031547HP:0005184Prolonged QTc interval2CAV3 CL E G H8591529ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate148
HP:0031547HP:0005184Prolonged QTc interval2FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0031547HP:0005184Prolonged QTc interval2HCN4 CL E G H1002116882OMIM:163800Sick sinus syndrome 2185
HP:0031547HP:0005184Prolonged QTc interval2KCNA5 CL E G H37416224OMIM:612240Atrial fibrillation, familial, 7HP:0040283 - Occasional38
HP:0031547HP:0005184Prolonged QTc interval2KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040281 - Very frequent148
HP:0031547HP:0005184Prolonged QTc interval2KCNE1 CL E G H37536240OMIM:613695Long QT syndrome 5148
HP:0031547HP:0005184Prolonged QTc interval2KCNE1 CL E G H37536240ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate148
HP:0031547HP:0005184Prolonged QTc interval2KCNE2 CL E G H99926242OMIM:613693Long QT syndrome 643
HP:0031547HP:0005184Prolonged QTc interval2KCNE2 CL E G H99926242ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate43
HP:0031547HP:0005184Prolonged QTc interval2KCNH2 CL E G H37576251OMIM:613688Long QT syndrome 2901
HP:0031547HP:0005184Prolonged QTc interval2KCNH2 CL E G H37576251ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate901
HP:0031547HP:0005184Prolonged QTc interval2KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0031547HP:0005184Prolonged QTc interval2KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0031547HP:0005184Prolonged QTc interval2KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0031547HP:0005184Prolonged QTc interval2KCNJ5 CL E G H37626266OMIM:613485Long QT syndrome 13128
HP:0031547HP:0005184Prolonged QTc interval2KCNJ5 CL E G H37626266ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate128
HP:0031547HP:0005184Prolonged QTc interval2KCNQ1 CL E G H37846294OMIM:607554Atrial fibrillation, familial, 3730
HP:0031547HP:0005184Prolonged QTc interval2KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040281 - Very frequent730
HP:0031547HP:0005184Prolonged QTc interval2KCNQ1 CL E G H37846294OMIM:220400Jervell and lange-nielsen syndrome 1730
HP:0031547HP:0005184Prolonged QTc interval2KCNQ1 CL E G H37846294OMIM:192500LONG QT SYNDROME 1; LQT1730
HP:0031547HP:0005184Prolonged QTc interval2KCNQ1 CL E G H37846294ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate730
HP:0031547HP:0005184Prolonged QTc interval2MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0031547HP:0005184Prolonged QTc interval2NOS1AP CL E G H972216859ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate4
HP:0031547HP:0005184Prolonged QTc interval2SCN10A CL E G H633610582ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate146
HP:0031547HP:0005184Prolonged QTc interval2SCN4B CL E G H633010592ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate110
HP:0031547HP:0005184Prolonged QTc interval2SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0031547HP:0005184Prolonged QTc interval2SCN5A CL E G H633110593ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate1134
HP:0031547HP:0005184Prolonged QTc interval2SNTA1 CL E G H664011167OMIM:612955Long QT syndrome 12118
HP:0031547HP:0005184Prolonged QTc interval2SNTA1 CL E G H664011167ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate118
HP:0031547HP:0005184Prolonged QTc interval2SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0031547HP:0005184Prolonged QTc interval2TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0031547HP:0005184Prolonged QTc interval2TBX5 CL E G H691011604ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate123
HP:0031547HP:0005184Prolonged QTc interval2TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy.1
HP:0031547HP:0005184Prolonged QTc interval2TRDN CL E G H1034512261ORPHA:101016Romano-Ward syndromeHP:0040280 - Obligate145


Genes (63) :ACADVL AKAP9 ALG10B ALPK3 ANK2 BPTF CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CAV3 CAVIN1 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CLCNKB DNAJC19 DPAGT1 FLNC GABRA3 GMPPB GNAS GPC3 GPC4 HADH HCN4 KCNA5 KCND3 KCNE1 KCNE2 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNQ1 MECP2 MEN1 NOS1AP PHOX2B PSMD12 RYR1 SCN10A SCN4B SCN5A SLC12A3 SLC4A3 SLC6A8 SNTA1 SRY STX16 SVIL TANGO2 TBX5 TECRL TNNI3K TNNT2 TRDN TRPM4

Diseases (67) :ORPHA:26793 OMIM:611820 ORPHA:101016 OMIM:613688 OMIM:618052 OMIM:600919 ORPHA:529962 OMIM:620029 OMIM:611875 OMIM:618447 OMIM:601005 ORPHA:79102 ORPHA:51083 OMIM:611876 OMIM:616247 OMIM:616249 OMIM:618782 OMIM:611818 OMIM:613327 ORPHA:99880 ORPHA:143 ORPHA:652 ORPHA:358 OMIM:610198 ORPHA:66634 ORPHA:86309 OMIM:617047 OMIM:615351 ORPHA:79443 ORPHA:94089 ORPHA:79444 ORPHA:373 ORPHA:71212 OMIM:163800 OMIM:612240 OMIM:616399 ORPHA:90647 OMIM:612347 OMIM:613695 OMIM:613693 OMIM:609620 OMIM:170390 ORPHA:37553 OMIM:609622 ORPHA:251274 OMIM:613485 OMIM:607554 OMIM:220400 OMIM:192500 OMIM:609621 OMIM:312750 ORPHA:2151 ORPHA:466650 OMIM:611819 OMIM:603830 OMIM:608567 OMIM:263800 OMIM:300352 OMIM:612955 ORPHA:1772 OMIM:619040 OMIM:616878 ORPHA:480864 OMIM:614021 OMIM:616117 OMIM:601494 OMIM:604559
 

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