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:
Bundle branch block (HP:0011710)

Parent Node:
Left bundle branch block (HP:0011713)

..Starting node
..Left anterior fascicular block (HP:0011711)

Term ID:

11711

Name:

Left anterior fascicular block

Synonym:

Left anterior hemiblock

Definition:

Conduction block in the anterior division of the left bundle branch of the bundle of His.

Comments:

Reference:

HP:0011711

Genes and Diseases:

Child Nodes:

Sister Nodes:

Left posterior fascicular block (HP:0005172)

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:0011711	HP:0011711	Left anterior fascicular block	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0011711	HP:0011711	Left anterior fascicular block	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011711	HP:0011711	Left anterior fascicular block	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0011711	HP:0011711	Left anterior fascicular block	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0011711	HP:0011711	Left anterior fascicular block	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134
HP:0011711	HP:0011711	Left anterior fascicular block	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	HP:0040283 - Occasional	73
HP:0011711	HP:0011711	Left anterior fascicular block	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy		1
HP:0011711	HP:0011711	Left anterior fascicular block	0	TRPM4 CL E G H	54795	17993	OMIM:604559	Progressive familial heart block, type IB	.	124

Genes (8) :ACTC1 FLNC LMNA MYH7 SCN5A TNNC1 TNNI3K TRPM4

Diseases (8) :OMIM:612098 OMIM:617047 OMIM:181350 ORPHA:437572 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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