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

..Starting node
..2:1 atrioventricular block (HP:0034305)

Term ID:

34305

Name:

2:1 atrioventricular block

Synonym:

2:1 AV block

Definition:

A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.

Comments:

Reference:

HP:0034305

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034305	HP:0034305	2:1 atrioventricular block	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14	18
HP:0034305	HP:0034305	2:1 atrioventricular block	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15	13

Genes (2) :CALM1 CALM2

Diseases (2) :OMIM:616247 OMIM:616249

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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