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:
Ventricular arrhythmia (HP:0004308)

Parent Node:
Premature ventricular contraction (HP:0006682)

..Starting node
..Polymorphic and polytopic ventricular extrasystoles (HP:0006696)

Term ID:

6696

Name:

Polymorphic and polytopic ventricular extrasystoles

Synonym:

Definition:

Comments:

Reference:

HP:0006696

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006696	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0006696	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0006696	HP:0006696	Polymorphic and polytopic ventricular extrasystoles	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA		1103

Genes (3) :KCNJ2 KCNJ5 RYR2

Diseases (2) :ORPHA:37553 OMIM:115000

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