Human Phenotype Ontology 
Grandparent Node:
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Abnormality of cardiovascular system electrophysiology (HP:0030956)help
Parent Node:
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Cardiac conduction abnormality (HP:0031546)help
..Starting node
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Heart block (HP:0012722)help
Term ID: 12722
Name: Heart block
Synonym:
Definition: Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
Comments:
Reference: HP:0012722
Genes and Diseases:
 
       Child Nodes:
........expandAtrioventricular block (HP:0001678) help
................... HP:0001709 Third degree atrioventricular block
................... HP:0006681 Absent atrioventricular node
................... HP:0011705 First degree atrioventricular block
................... HP:0011706 Second degree atrioventricular block
........expandSick sinus syndrome (HP:0011704) help
........expandBundle branch block (HP:0011710) help
................... HP:0011712 Right bundle branch block
................... HP:0011713 Left bundle branch block
................... HP:0011715 Trifascicular block
........expandSinoatrial block (HP:0012723) help

 Sister Nodes: 
..expandAbnormal atrioventricular conduction (HP:0005150) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012722HP:0012722Heart block0BTNL2 CL E G H56244797ORPHA011181142606000
HP:0012722HP:0012722Heart block0HLA-DRB1 CL E G H3123797ORPHA026194948142857
HP:0012722HP:0012722Heart block0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0012722HP:0012722Heart block0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0012722HP:0012722Heart block0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0012722HP:0012722Heart block0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0012722HP:0012722Heart block0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0012722HP:0012722Heart block0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0012722HP:0012722Heart block0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0012722HP:0012722Heart block0MT-TF CL E G H4558550ORPHA07481590070
HP:0012722HP:0012722Heart block0MT-TH CL E G H4564550ORPHA07487590040
HP:0012722HP:0012722Heart block0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0012722HP:0012722Heart block0MT-TQ CL E G H4572550ORPHA07495590030
HP:0012722HP:0012722Heart block0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0012722HP:0012722Heart block0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0012722HP:0012722Heart block0MT-TW CL E G H4578550ORPHA07501590095
HP:0012722HP:0012722Heart block0PEX7 CL E G H5191773ORPHA0531688860601757
HP:0012722HP:0012722Heart block0PHYH CL E G H5264773ORPHA037878940602026
HP:0012722HP:0012722Heart block0RMRP CL E G H6023175ORPHA012331410031157660
HP:0012722HP:0012722Heart block1BTNL2 CL E G H56244797ORPHA011181142606000
HP:0012722HP:0012722Heart block1HLA-DRB1 CL E G H3123797ORPHA026194948142857
HP:0012722HP:0012722Heart block1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0012722HP:0012722Heart block1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0012722HP:0012722Heart block1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0012722HP:0012722Heart block1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0012722HP:0012722Heart block1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0012722HP:0012722Heart block1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0012722HP:0012722Heart block1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0012722HP:0012722Heart block1MT-TF CL E G H4558550ORPHA07481590070
HP:0012722HP:0012722Heart block1MT-TH CL E G H4564550ORPHA07487590040
HP:0012722HP:0012722Heart block1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0012722HP:0012722Heart block1MT-TQ CL E G H4572550ORPHA07495590030
HP:0012722HP:0012722Heart block1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0012722HP:0012722Heart block1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0012722HP:0012722Heart block1MT-TW CL E G H4578550ORPHA07501590095
HP:0012722HP:0012722Heart block1PEX7 CL E G H5191773ORPHA0531688860601757
HP:0012722HP:0012722Heart block1PHYH CL E G H5264773ORPHA037878940602026
HP:0012722HP:0012722Heart block1RMRP CL E G H6023175ORPHA012331410031157660
HP:0012722HP:0012722Heart block2BTNL2 CL E G H56244797ORPHA011181142606000
HP:0012722HP:0012722Heart block2HLA-DRB1 CL E G H3123797ORPHA026194948142857
HP:0012722HP:0012722Heart block2MT-CO1 CL E G H4512550ORPHA07419516030
HP:0012722HP:0012722Heart block2MT-CO2 CL E G H4513550ORPHA07421516040
HP:0012722HP:0012722Heart block2MT-CO3 CL E G H4514550ORPHA07422516050
HP:0012722HP:0012722Heart block2MT-ND1 CL E G H4535550ORPHA07455516000
HP:0012722HP:0012722Heart block2MT-ND4 CL E G H4538550ORPHA07459516003
HP:0012722HP:0012722Heart block2MT-ND5 CL E G H4540550ORPHA07461516005
HP:0012722HP:0012722Heart block2MT-ND6 CL E G H4541550ORPHA07462516006
HP:0012722HP:0012722Heart block2MT-TF CL E G H4558550ORPHA07481590070
HP:0012722HP:0012722Heart block2MT-TH CL E G H4564550ORPHA07487590040
HP:0012722HP:0012722Heart block2MT-TL1 CL E G H4567550ORPHA07490590050
HP:0012722HP:0012722Heart block2MT-TQ CL E G H4572550ORPHA07495590030
HP:0012722HP:0012722Heart block2MT-TS1 CL E G H4574550ORPHA07497590080
HP:0012722HP:0012722Heart block2MT-TS2 CL E G H4575550ORPHA07498590085
HP:0012722HP:0012722Heart block2MT-TW CL E G H4578550ORPHA07501590095
HP:0012722HP:0012722Heart block2PEX7 CL E G H5191773ORPHA0531688860601757
HP:0012722HP:0012722Heart block2PHYH CL E G H5264773ORPHA037878940602026
HP:0012722HP:0012722Heart block2RMRP CL E G H6023175ORPHA012331410031157660
HP:0012722HP:0012722Heart block3BTNL2 CL E G H56244797ORPHA011181142606000
HP:0012722HP:0012722Heart block3HLA-DRB1 CL E G H3123797ORPHA026194948142857
HP:0012722HP:0012722Heart block3MT-CO1 CL E G H4512550ORPHA07419516030
HP:0012722HP:0012722Heart block3MT-CO2 CL E G H4513550ORPHA07421516040
HP:0012722HP:0012722Heart block3MT-CO3 CL E G H4514550ORPHA07422516050
HP:0012722HP:0012722Heart block3MT-ND1 CL E G H4535550ORPHA07455516000
HP:0012722HP:0012722Heart block3MT-ND4 CL E G H4538550ORPHA07459516003
HP:0012722HP:0012722Heart block3MT-ND5 CL E G H4540550ORPHA07461516005
HP:0012722HP:0012722Heart block3MT-ND6 CL E G H4541550ORPHA07462516006
HP:0012722HP:0012722Heart block3MT-TF CL E G H4558550ORPHA07481590070
HP:0012722HP:0012722Heart block3MT-TH CL E G H4564550ORPHA07487590040
HP:0012722HP:0012722Heart block3MT-TL1 CL E G H4567550ORPHA07490590050
HP:0012722HP:0012722Heart block3MT-TQ CL E G H4572550ORPHA07495590030
HP:0012722HP:0012722Heart block3MT-TS1 CL E G H4574550ORPHA07497590080
HP:0012722HP:0012722Heart block3MT-TS2 CL E G H4575550ORPHA07498590085
HP:0012722HP:0012722Heart block3MT-TW CL E G H4578550ORPHA07501590095
HP:0012722HP:0012722Heart block3PEX7 CL E G H5191773ORPHA0531688860601757
HP:0012722HP:0012722Heart block3PHYH CL E G H5264773ORPHA037878940602026
HP:0012722HP:0012722Heart block3RMRP CL E G H6023175ORPHA012331410031157660


Genes (80) :ACTN2 AGXT ATP6V1A ATP6V1E1 ATP8 BANF1 BRAF BTNL2 BVES CACNA1D CACNA1S CACNA2D1 COX1 COX2 COX3 CTNNA3 DES DMPK EMD FHL1 GABRA3 GJA1 GJA5 GLA GNAI2 GNB5 GPC3 GPC4 GPD1L GPX4 GYG1 HCN4 HLA-DRB1 JUP KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNQ1 LMNA MTM1 MYH7 MYOZ2 ND1 ND4 ND5 ND6 NKX2-5 PEX7 PHYH PLEC POMT2 PPP1CB PRKAG2 PSMB8 PTPN11 RAF1 RMRP RNASEH1 RRM2B SCN1B SCN4B SCN5A SGO1 SLC25A20 SYNE1 SYNE2 TBX5 TMEM43 TNNC1 TNNI3K TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPM4 TTR

Diseases (62) :797 550 773 175 612158 259900 500 616812 51083 615616 98863 310300 324 617173 617182 373 93317 163800 613485 98853 98855 596 1479 600858 151100 612838 611819 601154 608567 616201 212138 604559 85447 617403 617402 480 614008 369929 79102 601419 273 160900 600309 108770 192605 611777 263297 613507 601214 1880 613838 254361 613158 617506 2615 616479 601144 113900 392 613243 437572 616117
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.