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:
Arrhythmia (HP:0011675)

Parent Node:
Abnormal heart rate variability (HP:0031860)

..Starting node
..Increased heart rate variability (HP:0031862)

Term ID:

31862

Name:

Increased heart rate variability

Synonym:

Definition:

Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.

Comments:

Reference:

HP:0031862

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased heart rate variability (HP:0031861)

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:0031862	HP:0031862	Increased heart rate variability	0	CACNA1D CL E G H	776	1391	OMIM:614896	Sinoatrial node dysfunction and deafness	51

Genes (1) :CACNA1D

Diseases (1) :OMIM:614896

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