Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Heart block (HP:0012722)

Parent Node:
Bundle branch block (HP:0011710)

..Starting node
..Left bundle branch block (HP:0011713)

Term ID:

11713

Name:

Left bundle branch block

Synonym:

Definition:

A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.

Comments:

Reference:

HP:0011713

Genes and Diseases:

Child Nodes:

........

Left posterior fascicular block (HP:0005172)

........

Left anterior fascicular block (HP:0011711)

Sister Nodes:

Right bundle branch block (HP:0011712)

Trifascicular block (HP:0011715)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011713	HP:0011713	Left bundle branch block	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011713	HP:0011713	Left bundle branch block	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0011713	HP:0011713	Left bundle branch block	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0011713	HP:0011713	Left bundle branch block	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB		358
HP:0011713	HP:0011713	Left bundle branch block	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011713	HP:0011713	Left bundle branch block	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction		286
HP:0011713	HP:0011713	Left bundle branch block	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011713	HP:0011713	Left bundle branch block	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0011713	HP:0011713	Left bundle branch block	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0011713	HP:0011713	Left bundle branch block	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10		131
HP:0011713	HP:0011713	Left bundle branch block	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	HP:0040283 - Occasional	81
HP:0011713	HP:0011713	Left bundle branch block	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0011713	HP:0011713	Left bundle branch block	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U		241
HP:0011713	HP:0011713	Left bundle branch block	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V		59
HP:0011713	HP:0011713	Left bundle branch block	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.	1134
HP:0011713	HP:0011713	Left bundle branch block	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0011713	HP:0011713	Left bundle branch block	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0011713	HP:0011713	Left bundle branch block	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0011713	HP:0011713	Left bundle branch block	0	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB		124
HP:0011713	HP:0011711	Left anterior fascicular block	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011713	HP:0011711	Left anterior fascicular block	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011713	HP:0011711	Left anterior fascicular block	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011713	HP:0011711	Left anterior fascicular block	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0011713	HP:0005172	Left posterior fascicular block	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0011713	HP:0011711	Left anterior fascicular block	1	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0011713	HP:0011711	Left anterior fascicular block	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	HP:0040283 - Occasional	73
HP:0011713	HP:0011711	Left anterior fascicular block	1	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0011713	HP:0011711	Left anterior fascicular block	1	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB	.	124

Genes (18) :ACTC1 CDH2 CTNNA3 DSG2 FLNC LDB3 LMNA MYBPC3 MYH7 MYL2 MYOZ2 PRKAG2 PSEN1 PSEN2 SCN5A TNNC1 TNNI3K TRPM4

Diseases (19) :OMIM:612098 OMIM:618920 OMIM:615616 OMIM:612877 OMIM:617047 OMIM:601493 OMIM:181350 OMIM:115197 ORPHA:437572 OMIM:608758 OMIM:613838 OMIM:600858 OMIM:613694 OMIM:613697 OMIM:601154 OMIM:113900 OMIM:613243 OMIM:616117 OMIM:604559

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

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