Human Phenotype Ontology 
Grandparent Node:
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Abnormal EKG (HP:0003115)help
Parent Node:
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Abnormal QT interval (HP:0031547)help
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Prolonged QT interval (HP:0001657)help
Term ID: 1657
Name: Prolonged QT interval
Synonym: Long Q-T syndrome; Long QT syndrome; Prolong qt interval on ekg
Definition: Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Comments:
Reference: HP:0001657
Genes and Diseases:
 
       Child Nodes:
........expandProlonged QTc interval (HP:0005184) help

 Sister Nodes: 
..expandShortened QT interval (HP:0012232) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001657HP:0001657Prolonged QT interval0AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM11324379604001
HP:0001657HP:0001657Prolonged QT interval0AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM11108379604001
HP:0001657HP:0001657Prolonged QT interval0ALPK3 CL E G H57538618052CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27618052CN252335OMIM185117574617608
HP:0001657HP:0001657Prolonged QT interval0ALPK3 CL E G H57538618052CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27618052CN252335OMIM138017574617608
HP:0001657HP:0001657Prolonged QT interval0ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM11878493106410
HP:0001657HP:0001657Prolonged QT interval0ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM11677493106410
HP:0001657HP:0001657Prolonged QT interval0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM118301390114205
HP:0001657HP:0001657Prolonged QT interval0CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM116581390114205
HP:0001657HP:0001657Prolonged QT interval0CAV3 CL E G H859611818Long QT syndrome 9611818C2678485OMIM13541529601253
HP:0001657HP:0001657Prolonged QT interval0CAV3 CL E G H859611818Long QT syndrome 9611818C2678485OMIM13351529601253
HP:0001657HP:0001657Prolonged QT interval0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0001657HP:0001657Prolonged QT interval0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0001657HP:0001657Prolonged QT interval0DNAJC19 CL E G H13111866634ORPHA19530528608977
HP:0001657HP:0001657Prolonged QT interval0DNAJC19 CL E G H13111866634ORPHA17830528608977
HP:0001657HP:0001657Prolonged QT interval0DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM19530528608977
HP:0001657HP:0001657Prolonged QT interval0DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM17830528608977
HP:0001657HP:0001657Prolonged QT interval0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001657HP:0001657Prolonged QT interval0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001657HP:0001657Prolonged QT interval0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001657HP:0001657Prolonged QT interval0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H3753612347Jervell and Lange-Nielsen syndrome 2612347C2676723OMIM13526240176261
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H3753612347Jervell and Lange-Nielsen syndrome 2612347C2676723OMIM13346240176261
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H3753613695Long QT syndrome 5613695C1867904OMIM13526240176261
HP:0001657HP:0001657Prolonged QT interval0KCNE1 CL E G H3753613695Long QT syndrome 5613695C1867904OMIM13346240176261
HP:0001657HP:0001657Prolonged QT interval0KCNE2 CL E G H9992613693Long QT syndrome 6613693C3150953OMIM11796242603796
HP:0001657HP:0001657Prolonged QT interval0KCNE2 CL E G H9992613693Long QT syndrome 6613693C3150953OMIM11706242603796
HP:0001657HP:0001657Prolonged QT interval0KCNH2 CL E G H3757613688Long QT syndrome 2613688C3150943OMIM123046251152427
HP:0001657HP:0001657Prolonged QT interval0KCNH2 CL E G H3757613688Long QT syndrome 2613688C3150943OMIM121096251152427
HP:0001657HP:0001657Prolonged QT interval0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14496263600681
HP:0001657HP:0001657Prolonged QT interval0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14046263600681
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H3762613485Long QT syndrome 13613485C3150733OMIM13596266600734
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H3762613485Long QT syndrome 13613485C3150733OMIM13336266600734
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H3784220400Jervell and Lange-Nielsen syndrome 1220400CN034131OMIM115356294607542
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H3784220400Jervell and Lange-Nielsen syndrome 1220400CN034131OMIM114356294607542
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0001657HP:0001657Prolonged QT interval0KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0001657HP:0001657Prolonged QT interval0PHOX2B CL E G H89292151ORPHA16099143603851
HP:0001657HP:0001657Prolonged QT interval0PHOX2B CL E G H89292151ORPHA15129143603851
HP:0001657HP:0001657Prolonged QT interval0SCN4B CL E G H6330611819Long QT syndrome 10611819C2678484OMIM124910592608256
HP:0001657HP:0001657Prolonged QT interval0SCN4B CL E G H6330611819Long QT syndrome 10611819C2678484OMIM123010592608256
HP:0001657HP:0001657Prolonged QT interval0SCN5A CL E G H6331603830Long QT syndrome 3603830C1859062OMIM1286110593600163
HP:0001657HP:0001657Prolonged QT interval0SCN5A CL E G H6331603830Long QT syndrome 3603830C1859062OMIM1262410593600163
HP:0001657HP:0001657Prolonged QT interval0SCN5A CL E G H6331608567Sick sinus syndrome 1, autosomal recessive608567C1837845OMIM1286110593600163
HP:0001657HP:0001657Prolonged QT interval0SCN5A CL E G H6331608567Sick sinus syndrome 1, autosomal recessive608567C1837845OMIM1262410593600163
HP:0001657HP:0001657Prolonged QT interval0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM186810912600968
HP:0001657HP:0001657Prolonged QT interval0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM178510912600968
HP:0001657HP:0001657Prolonged QT interval0TECRL CL E G H253017614021Ventricular tachycardia, catecholaminergic polymorphic, 3614021C3151463OMIM110827365617242
HP:0001657HP:0001657Prolonged QT interval0TECRL CL E G H253017614021Ventricular tachycardia, catecholaminergic polymorphic, 3614021C3151463OMIM110527365617242
HP:0001657HP:0001657Prolonged QT interval0TRPM4 CL E G H54795604559Progressive familial heart block type 1B604559C1970298OMIM180617993606936
HP:0001657HP:0001657Prolonged QT interval0TRPM4 CL E G H54795604559Progressive familial heart block type 1B604559C1970298OMIM164417993606936
HP:0001657HP:0005184Prolonged QTc interval1AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM11324379604001
HP:0001657HP:0005184Prolonged QTc interval1AKAP9 CL E G H10142611820Long QT syndrome 11611820C2678483OMIM11108379604001
HP:0001657HP:0005184Prolonged QTc interval1ALPK3 CL E G H57538618052CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27618052CN252335OMIM185117574617608
HP:0001657HP:0005184Prolonged QTc interval1ALPK3 CL E G H57538618052CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27618052CN252335OMIM138017574617608
HP:0001657HP:0005184Prolonged QTc interval1ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM11878493106410
HP:0001657HP:0005184Prolonged QTc interval1ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM11677493106410
HP:0001657HP:0005184Prolonged QTc interval1CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM118301390114205
HP:0001657HP:0005184Prolonged QTc interval1CACNA1C CL E G H775601005Timothy syndrome601005C1832916OMIM116581390114205
HP:0001657HP:0005184Prolonged QTc interval1CAV3 CL E G H859611818Long QT syndrome 9611818C2678485OMIM13541529601253
HP:0001657HP:0005184Prolonged QTc interval1CAV3 CL E G H859611818Long QT syndrome 9611818C2678485OMIM13351529601253
HP:0001657HP:0005184Prolonged QTc interval1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0001657HP:0005184Prolonged QTc interval1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0001657HP:0005184Prolonged QTc interval1DNAJC19 CL E G H13111866634ORPHA19530528608977
HP:0001657HP:0005184Prolonged QTc interval1DNAJC19 CL E G H13111866634ORPHA17830528608977
HP:0001657HP:0005184Prolonged QTc interval1DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM19530528608977
HP:0001657HP:0005184Prolonged QTc interval1DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM17830528608977
HP:0001657HP:0005184Prolonged QTc interval1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001657HP:0005184Prolonged QTc interval1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001657HP:0005184Prolonged QTc interval1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001657HP:0005184Prolonged QTc interval1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001657HP:0005184Prolonged QTc interval1KCNE1 CL E G H3753612347Jervell and Lange-Nielsen syndrome 2612347C2676723OMIM13526240176261
HP:0001657HP:0005184Prolonged QTc interval1KCNE1 CL E G H3753612347Jervell and Lange-Nielsen syndrome 2612347C2676723OMIM13346240176261
HP:0001657HP:0005184Prolonged QTc interval1KCNE1 CL E G H3753613695Long QT syndrome 5613695C1867904OMIM13526240176261
HP:0001657HP:0005184Prolonged QTc interval1KCNE1 CL E G H3753613695Long QT syndrome 5613695C1867904OMIM13346240176261
HP:0001657HP:0005184Prolonged QTc interval1KCNE2 CL E G H9992613693Long QT syndrome 6613693C3150953OMIM11796242603796
HP:0001657HP:0005184Prolonged QTc interval1KCNE2 CL E G H9992613693Long QT syndrome 6613693C3150953OMIM11706242603796
HP:0001657HP:0005184Prolonged QTc interval1KCNH2 CL E G H3757613688Long QT syndrome 2613688C3150943OMIM123046251152427
HP:0001657HP:0005184Prolonged QTc interval1KCNH2 CL E G H3757613688Long QT syndrome 2613688C3150943OMIM121096251152427
HP:0001657HP:0005184Prolonged QTc interval1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14496263600681
HP:0001657HP:0005184Prolonged QTc interval1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14046263600681
HP:0001657HP:0005184Prolonged QTc interval1KCNJ5 CL E G H3762613485Long QT syndrome 13613485C3150733OMIM13596266600734
HP:0001657HP:0005184Prolonged QTc interval1KCNJ5 CL E G H3762613485Long QT syndrome 13613485C3150733OMIM13336266600734
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H3784220400Jervell and Lange-Nielsen syndrome 1220400CN034131OMIM115356294607542
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H3784220400Jervell and Lange-Nielsen syndrome 1220400CN034131OMIM114356294607542
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0001657HP:0005184Prolonged QTc interval1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0001657HP:0005184Prolonged QTc interval1PHOX2B CL E G H89292151ORPHA16099143603851
HP:0001657HP:0005184Prolonged QTc interval1PHOX2B CL E G H89292151ORPHA15129143603851
HP:0001657HP:0005184Prolonged QTc interval1SCN4B CL E G H6330611819Long QT syndrome 10611819C2678484OMIM124910592608256
HP:0001657HP:0005184Prolonged QTc interval1SCN4B CL E G H6330611819Long QT syndrome 10611819C2678484OMIM123010592608256
HP:0001657HP:0005184Prolonged QTc interval1SCN5A CL E G H6331603830Long QT syndrome 3603830C1859062OMIM1286110593600163
HP:0001657HP:0005184Prolonged QTc interval1SCN5A CL E G H6331603830Long QT syndrome 3603830C1859062OMIM1262410593600163
HP:0001657HP:0005184Prolonged QTc interval1SCN5A CL E G H6331608567Sick sinus syndrome 1, autosomal recessive608567C1837845OMIM1286110593600163
HP:0001657HP:0005184Prolonged QTc interval1SCN5A CL E G H6331608567Sick sinus syndrome 1, autosomal recessive608567C1837845OMIM1262410593600163
HP:0001657HP:0005184Prolonged QTc interval1SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM186810912600968
HP:0001657HP:0005184Prolonged QTc interval1SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM178510912600968
HP:0001657HP:0005184Prolonged QTc interval1TECRL CL E G H253017614021Ventricular tachycardia, catecholaminergic polymorphic, 3614021C3151463OMIM110827365617242
HP:0001657HP:0005184Prolonged QTc interval1TECRL CL E G H253017614021Ventricular tachycardia, catecholaminergic polymorphic, 3614021C3151463OMIM110527365617242
HP:0001657HP:0005184Prolonged QTc interval1TRPM4 CL E G H54795604559Progressive familial heart block type 1B604559C1970298OMIM180617993606936
HP:0001657HP:0005184Prolonged QTc interval1TRPM4 CL E G H54795604559Progressive familial heart block type 1B604559C1970298OMIM164417993606936
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001657HP:0001657Prolonged QT interval0ACADL CL E G H3399900ORPHA03588609576
HP:0001657HP:0001657Prolonged QT interval0ACADL CL E G H3399900ORPHA03388609576
HP:0001657HP:0001657Prolonged QT interval0BPTF CL E G H2186529962ORPHA01393581601819
HP:0001657HP:0001657Prolonged QT interval0BPTF CL E G H2186529962ORPHA01293581601819
HP:0001657HP:0001657Prolonged QT interval0CACNA1S CL E G H77979102ORPHA013271397114208
HP:0001657HP:0001657Prolonged QT interval0CACNA1S CL E G H77979102ORPHA011541397114208
HP:0001657HP:0001657Prolonged QT interval0GABRA3 CL E G H255679102ORPHA02184077305660
HP:0001657HP:0001657Prolonged QT interval0GABRA3 CL E G H255679102ORPHA02144077305660
HP:0001657HP:0001657Prolonged QT interval0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM023422932615320
HP:0001657HP:0001657Prolonged QT interval0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM020322932615320
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H277879443ORPHA03714392139320
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H277879444ORPHA03714392139320
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H277894089ORPHA03714392139320
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H277879443ORPHA03334392139320
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H277879444ORPHA03334392139320
HP:0001657HP:0001657Prolonged QT interval0GNAS CL E G H277894089ORPHA03334392139320
HP:0001657HP:0001657Prolonged QT interval0HADH CL E G H303371212ORPHA01564799601609
HP:0001657HP:0001657Prolonged QT interval0HADH CL E G H303371212ORPHA01374799601609
HP:0001657HP:0001657Prolonged QT interval0KCNJ18 CL E G H10013444479102ORPHA01639080613236
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H3762251274ORPHA03596266600734
HP:0001657HP:0001657Prolonged QT interval0KCNJ5 CL E G H3762251274ORPHA03336266600734
HP:0001657HP:0001657Prolonged QT interval0LMNA CL E G H4000740Aortic arch interruptionORPHA014866636150330
HP:0001657HP:0001657Prolonged QT interval0LMNA CL E G H4000740Aortic arch interruptionORPHA013476636150330
HP:0001657HP:0001657Prolonged QT interval0PSMD12 CL E G H5718529962ORPHA0479557604450
HP:0001657HP:0001657Prolonged QT interval0PSMD12 CL E G H5718529962ORPHA0469557604450
HP:0001657HP:0001657Prolonged QT interval0SRY CL E G H67361772ORPHA010911311480000
HP:0001657HP:0001657Prolonged QT interval0SRY CL E G H67361772ORPHA09911311480000
HP:0001657HP:0001657Prolonged QT interval0STX16 CL E G H867594089ORPHA018311431603666
HP:0001657HP:0001657Prolonged QT interval0STX16 CL E G H867594089ORPHA018211431603666
HP:0001657HP:0001657Prolonged QT interval0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA016712877606480
HP:0001657HP:0001657Prolonged QT interval0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA014912877606480
HP:0001657HP:0005184Prolonged QTc interval1ACADL CL E G H3399900ORPHA03588609576
HP:0001657HP:0005184Prolonged QTc interval1ACADL CL E G H3399900ORPHA03388609576
HP:0001657HP:0005184Prolonged QTc interval1BPTF CL E G H2186529962ORPHA01393581601819
HP:0001657HP:0005184Prolonged QTc interval1BPTF CL E G H2186529962ORPHA01293581601819
HP:0001657HP:0005184Prolonged QTc interval1CACNA1S CL E G H77979102ORPHA013271397114208
HP:0001657HP:0005184Prolonged QTc interval1CACNA1S CL E G H77979102ORPHA011541397114208
HP:0001657HP:0005184Prolonged QTc interval1GABRA3 CL E G H255679102ORPHA02184077305660
HP:0001657HP:0005184Prolonged QTc interval1GABRA3 CL E G H255679102ORPHA02144077305660
HP:0001657HP:0005184Prolonged QTc interval1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM023422932615320
HP:0001657HP:0005184Prolonged QTc interval1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM020322932615320
HP:0001657HP:0005184Prolonged QTc interval1GNAS CL E G H277879443ORPHA03714392139320
HP:0001657HP:0005184Prolonged QTc interval1GNAS CL E G H277879444ORPHA03714392139320
HP:0001657HP:0005184Prolonged QTc interval1GNAS CL E G H277894089ORPHA03714392139320
HP:0001657HP:0005184Prolonged QTc interval1GNAS CL E G H277879443ORPHA03334392139320
HP:0001657HP:0005184Prolonged QTc interval1GNAS CL E G H277879444ORPHA03334392139320
HP:0001657HP:0005184Prolonged QTc interval1GNAS CL E G H277894089ORPHA03334392139320
HP:0001657HP:0005184Prolonged QTc interval1HADH CL E G H303371212ORPHA01564799601609
HP:0001657HP:0005184Prolonged QTc interval1HADH CL E G H303371212ORPHA01374799601609
HP:0001657HP:0005184Prolonged QTc interval1KCNJ18 CL E G H10013444479102ORPHA01639080613236
HP:0001657HP:0005184Prolonged QTc interval1KCNJ5 CL E G H3762251274ORPHA03596266600734
HP:0001657HP:0005184Prolonged QTc interval1KCNJ5 CL E G H3762251274ORPHA03336266600734
HP:0001657HP:0005184Prolonged QTc interval1LMNA CL E G H4000740Aortic arch interruptionORPHA014866636150330
HP:0001657HP:0005184Prolonged QTc interval1LMNA CL E G H4000740Aortic arch interruptionORPHA013476636150330
HP:0001657HP:0005184Prolonged QTc interval1PSMD12 CL E G H5718529962ORPHA0479557604450
HP:0001657HP:0005184Prolonged QTc interval1PSMD12 CL E G H5718529962ORPHA0469557604450
HP:0001657HP:0005184Prolonged QTc interval1SRY CL E G H67361772ORPHA010911311480000
HP:0001657HP:0005184Prolonged QTc interval1SRY CL E G H67361772ORPHA09911311480000
HP:0001657HP:0005184Prolonged QTc interval1STX16 CL E G H867594089ORPHA018311431603666
HP:0001657HP:0005184Prolonged QTc interval1STX16 CL E G H867594089ORPHA018211431603666
HP:0001657HP:0005184Prolonged QTc interval1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA016712877606480
HP:0001657HP:0005184Prolonged QTc interval1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA014912877606480


Genes (45) :ACADL AGPAT2 AKAP9 ALPK3 ANK2 BPTF BSCL2 CACNA1C CACNA1S CALM1 CALM2 CAV1 CAV3 CAVIN1 DNAJC19 FOS GABRA3 GMPPB GNAS GPC3 GPC4 HADH KCNA5 KCNE1 KCNE2 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNQ1 LMNA MECP2 PHOX2B PPARG PSMD12 SCN4B SCN5A SLC12A3 SNTA1 SRY STX16 TANGO2 TECRL TRPM4 ZMPSTE24

Diseases (42) :99900 611820 618052 600919 529962 601005 79102 611818 613327 66634 610198 615351 79443 79444 94089 373 71212 612347 613695 613693 613688 170390 251274 613485 220400 192500 740 2151 611819 603830 608567 263800 1772 614021 604559 528 616247 616249 612240 312750 612955 616878
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.