Human Phenotype Ontology 
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Right bundle branch block (HP:0011712)help
Term ID: 11712
Name: Right bundle branch block
Synonym: Right bundle-branch block
Definition: A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Comments:
Reference: HP:0011712
Genes and Diseases:
 
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..expandLeft bundle branch block (HP:0011713) help
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011712HP:0011712Right bundle branch block0ABCC9 CL E G H1006060ORPHA:130Brugada syndromeHP:0040282 - Frequent254
HP:0011712HP:0011712Right bundle branch block0ACTC1 CL E G H70143OMIM:612098Cardiomyopathy, familial hypertrophic, 11208
HP:0011712HP:0011712Right bundle branch block0AKAP9 CL E G H10142379ORPHA:130Brugada syndromeHP:0040282 - Frequent289
HP:0011712HP:0011712Right bundle branch block0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0011712HP:0011712Right bundle branch block0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0011712HP:0011712Right bundle branch block0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0011712HP:0011712Right bundle branch block0CACNA1C CL E G H7751390ORPHA:130Brugada syndromeHP:0040282 - Frequent572
HP:0011712HP:0011712Right bundle branch block0CACNA2D1 CL E G H7811399ORPHA:130Brugada syndromeHP:0040282 - Frequent59
HP:0011712HP:0011712Right bundle branch block0CACNB2 CL E G H7831402ORPHA:130Brugada syndromeHP:0040282 - Frequent206
HP:0011712HP:0011712Right bundle branch block0CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus typeHP:0040283 - Occasional5
HP:0011712HP:0011712Right bundle branch block0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0011712HP:0011712Right bundle branch block0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0011712HP:0011712Right bundle branch block0DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0011712HP:0011712Right bundle branch block0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0011712HP:0011712Right bundle branch block0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011712HP:0011712Right bundle branch block0GNAI2 CL E G H27714385OMIM:192605Ventricular tachycardia, familial.4
HP:0011712HP:0011712Right bundle branch block0GPD1L CL E G H2317128956ORPHA:130Brugada syndromeHP:0040282 - Frequent97
HP:0011712HP:0011712Right bundle branch block0GPD1L CL E G H2317128956OMIM:611777BRUGADA SYNDROME 2; BRGDA297
HP:0011712HP:0011712Right bundle branch block0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0011712HP:0011712Right bundle branch block0GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV.18
HP:0011712HP:0011712Right bundle branch block0HCN4 CL E G H1002116882ORPHA:130Brugada syndromeHP:0040282 - Frequent185
HP:0011712HP:0011712Right bundle branch block0HCN4 CL E G H1002116882OMIM:613123BRUGADA SYNDROME 8; BRGDA8185
HP:0011712HP:0011712Right bundle branch block0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0011712HP:0011712Right bundle branch block0KCND3 CL E G H37526239ORPHA:130Brugada syndromeHP:0040282 - Frequent35
HP:0011712HP:0011712Right bundle branch block0KCNE3 CL E G H100086243ORPHA:130Brugada syndromeHP:0040282 - Frequent73
HP:0011712HP:0011712Right bundle branch block0KCNE5 CL E G H236306241ORPHA:130Brugada syndromeHP:0040282 - Frequent5
HP:0011712HP:0011712Right bundle branch block0KCNJ8 CL E G H37646269ORPHA:130Brugada syndromeHP:0040282 - Frequent23
HP:0011712HP:0011712Right bundle branch block0KCNK3 CL E G H37776278OMIM:615344Pulmonary hypertension, primary, 47
HP:0011712HP:0011712Right bundle branch block0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0011712HP:0011712Right bundle branch block0LMOD2 CL E G H4427216648OMIM:619897
HP:0011712HP:0011712Right bundle branch block0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0011712HP:0011712Right bundle branch block0MYH6 CL E G H46247576OMIM:613251Cardiomyopathy, familial hypertrophic, 14452
HP:0011712HP:0011712Right bundle branch block0MYH7 CL E G H46257577ORPHA:1880Ebstein malformation of the tricuspid valveHP:0040282 - Frequent1269
HP:0011712HP:0011712Right bundle branch block0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0011712HP:0011712Right bundle branch block0NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040282 - Frequent13
HP:0011712HP:0011712Right bundle branch block0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011712HP:0011712Right bundle branch block0PKP2 CL E G H53189024ORPHA:130Brugada syndromeHP:0040282 - Frequent406
HP:0011712HP:0011712Right bundle branch block0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040284 - Very rare759
HP:0011712HP:0011712Right bundle branch block0POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2HP:0040283 - Occasional221
HP:0011712HP:0011712Right bundle branch block0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040283 - Occasional221
HP:0011712HP:0011712Right bundle branch block0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0011712HP:0011712Right bundle branch block0RANGRF CL E G H2909817679ORPHA:130Brugada syndromeHP:0040282 - Frequent22
HP:0011712HP:0011712Right bundle branch block0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2HP:0040283 - Occasional3
HP:0011712HP:0011712Right bundle branch block0SCN10A CL E G H633610582ORPHA:130Brugada syndromeHP:0040282 - Frequent146
HP:0011712HP:0011712Right bundle branch block0SCN1B CL E G H632410586ORPHA:130Brugada syndromeHP:0040282 - Frequent126
HP:0011712HP:0011712Right bundle branch block0SCN2B CL E G H632710589ORPHA:130Brugada syndromeHP:0040282 - Frequent21
HP:0011712HP:0011712Right bundle branch block0SCN3B CL E G H5580020665ORPHA:130Brugada syndromeHP:0040282 - Frequent122
HP:0011712HP:0011712Right bundle branch block0SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040282 - Frequent1134
HP:0011712HP:0011712Right bundle branch block0SCN5A CL E G H633110593ORPHA:130Brugada syndromeHP:0040282 - Frequent1134
HP:0011712HP:0011712Right bundle branch block0SCN5A CL E G H633110593OMIM:601144BRUGADA SYNDROME 1; BRGDA11134
HP:0011712HP:0011712Right bundle branch block0SCN5A CL E G H633110593OMIM:601154Cardiomyopathy, dilated, 1E.1134
HP:0011712HP:0011712Right bundle branch block0SCN5A CL E G H633110593OMIM:113900Progressive familial heart block, type IA.1134
HP:0011712HP:0011712Right bundle branch block0SCNN1A CL E G H633710599ORPHA:130Brugada syndromeHP:0040282 - Frequent67
HP:0011712HP:0011712Right bundle branch block0SEMA3A CL E G H1037110723ORPHA:130Brugada syndromeHP:0040282 - Frequent14
HP:0011712HP:0011712Right bundle branch block0SLMAP CL E G H787116643ORPHA:130Brugada syndromeHP:0040282 - Frequent18
HP:0011712HP:0011712Right bundle branch block0TLL1 CL E G H709211843ORPHA:99106Atrial septal defect, ostium primum typeHP:0040282 - Frequent6
HP:0011712HP:0011712Right bundle branch block0TNNC1 CL E G H713411943OMIM:613243Cardiomyopathy, familial hypertrophic, 13HP:0040283 - Occasional73
HP:0011712HP:0011712Right bundle branch block0TNNI3K CL E G H5108619661OMIM:616117Cardiac conduction disease with or without dilated cardiomyopathy.1
HP:0011712HP:0011712Right bundle branch block0TNNT2 CL E G H713911949OMIM:115195Cardiomyopathy, familial hypertrophic, 2248
HP:0011712HP:0011712Right bundle branch block0TRPM4 CL E G H5479517993ORPHA:130Brugada syndromeHP:0040282 - Frequent124
HP:0011712HP:0011712Right bundle branch block0TRPM4 CL E G H5479517993OMIM:604559Progressive familial heart block, type IB.124


Genes (51) :ABCC9 ACTC1 AKAP9 ATP6V1A ATP6V1E1 BANF1 CACNA1C CACNA2D1 CACNB2 CITED2 CNBP CYTB DSG2 DYSF EXOSC5 GNAI2 GPD1L GYG1 HCN4 JUP KCND3 KCNE3 KCNE5 KCNJ8 KCNK3 LEMD2 LMOD2 MYBPC3 MYH6 MYH7 NPPA PIGU PKP2 PLEC POMT2 PPP1CB RANGRF RNASEH1 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TLL1 TNNC1 TNNI3K TNNT2 TRPM4

Diseases (39) :ORPHA:130 OMIM:612098 OMIM:617403 OMIM:617402 OMIM:614008 ORPHA:99105 OMIM:602668 ORPHA:137675 OMIM:610193 ORPHA:268 OMIM:619576 OMIM:192605 OMIM:611777 ORPHA:263297 OMIM:613507 OMIM:613123 OMIM:601214 OMIM:615344 OMIM:619322 OMIM:619897 OMIM:115197 OMIM:613251 ORPHA:1880 OMIM:255160 ORPHA:1344 OMIM:618590 ORPHA:254361 OMIM:613158 ORPHA:206559 OMIM:617506 OMIM:616479 OMIM:601144 OMIM:601154 OMIM:113900 ORPHA:99106 OMIM:613243 OMIM:616117 OMIM:115195 OMIM:604559
 

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