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:
Abnormal cardiac test (HP:0500015)

Grandparent Node:
Abnormality of cardiovascular system electrophysiology (HP:0030956)

Parent Node:
Abnormal EKG (HP:0003115)

..Starting node
..J wave (HP:0012272)

Term ID:

12272

Name:

J wave

Synonym:

EKG J waves; Osborne waves

Definition:

The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.

Comments:

Reference:

HP:0012272

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal P wave (HP:0031595)

Abnormal PR interval (HP:0031593)

Abnormal PR segment (HP:0031596)

Abnormal QRS complex (HP:0025074)

Abnormal QT interval (HP:0031547)

Abnormal ST segment (HP:0012249)

Abnormal T-wave (HP:0005135)

Abnormal U wave (HP:0025070)

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:0012272	HP:0012272	J wave	0	CACNA1C CL E G H	775	1390	OMIM:611875	BRUGADA SYNDROME 3; BRGDA3	572

Genes (1) :CACNA1C

Diseases (1) :OMIM:611875

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