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 posterior fascicular block (HP:0005172)

Term ID:

5172

Name:

Left posterior fascicular block

Synonym:

Left posterior hemiblock

Definition:

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

Comments:

Reference:

HP:0005172

Genes and Diseases:

Child Nodes:

Sister Nodes:

Left anterior fascicular block (HP:0011711)

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:0005172	HP:0005172	Left posterior fascicular block	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA	.	1134

Genes (1) :SCN5A

Diseases (1) :OMIM:113900

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