Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Arrhythmia (HP:0011675)

Parent Node:
Ventricular arrhythmia (HP:0004308)

..Starting node
..Bidirectional ventricular ectopy (HP:0005147)

Term ID:

5147

Name:

Bidirectional ventricular ectopy

Synonym:

Definition:

Comments:

Reference:

HP:0005147

Genes and Diseases:

Child Nodes:

Sister Nodes:

Premature ventricular contraction (HP:0006682)

Torsade de pointes (HP:0001664)

Ventricular escape rhythm (HP:0005155)

Ventricular fibrillation (HP:0001663)

Ventricular preexcitation (HP:0004309)

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:0005147	HP:0005147	Bidirectional ventricular ectopy	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0005147	HP:0005147	Bidirectional ventricular ectopy	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0005147	HP:0005147	Bidirectional ventricular ectopy	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128

Genes (2) :KCNJ2 KCNJ5

Diseases (2) :OMIM:170390 ORPHA:37553

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