Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal atrioventricular conduction (HP:0005150)help
Grandparent Node:
expand
Heart block (HP:0012722)help
Parent Node:
expand
Atrioventricular block (HP:0001678)help
..Starting node
..expand
Third degree atrioventricular block (HP:0001709)help
Term ID: 1709
Name: Third degree atrioventricular block
Synonym: Complete heart block; Third-degree heart block
Definition: Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.
Comments:
Reference: HP:0001709
Genes and Diseases:
 
       Child Nodes:
........expandComplete heart block with broad QRS complexes (HP:0005170) help
........expandComplete heart block with narrow QRS complexes (HP:0005178) help

 Sister Nodes: 
..expandAbsent atrioventricular node (HP:0006681) help
..expandFirst degree atrioventricular block (HP:0011705) help
..expandSecond degree atrioventricular block (HP:0011706) 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:0001709HP:0001709Third degree atrioventricular block0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0001709HP:0001709Third degree atrioventricular block0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001709HP:0001709Third degree atrioventricular block0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0001709HP:0001709Third degree atrioventricular block0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0001709HP:0001709Third degree atrioventricular block0LMNA CL E G H40006636OMIM:115200Cardiomyopathy, dilated, 1A645
HP:0001709HP:0001709Third degree atrioventricular block0MYL4 CL E G H46357585OMIM:617280Atrial fibrillation, familial, 182
HP:0001709HP:0001709Third degree atrioventricular block0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0001709HP:0001709Third degree atrioventricular block0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0001709HP:0001709Third degree atrioventricular block0RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent125
HP:0001709HP:0001709Third degree atrioventricular block0SCN5A CL E G H633110593OMIM:113900Progressive familial heart block, type IA1134
HP:0001709HP:0001709Third degree atrioventricular block0TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0001709HP:0005178Complete heart block with narrow QRS complexes1 CL E G H
HP:0001709HP:0005170Complete heart block with broad QRS complexes1SCN5A CL E G H633110593OMIM:113900Progressive familial heart block, type IA.1134


Genes (11) :ATP8 DEF6 DES GRIN1 LMNA MYL4 PRKG2 PTPN11 RRM2B SCN5A TRNL1

Diseases (9) :ORPHA:480 OMIM:619573 OMIM:601419 OMIM:619814 OMIM:115200 OMIM:617280 OMIM:619636 OMIM:151100 OMIM:113900
 

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