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
..Decreased heart rate variability (HP:0031861)

Term ID:

31861

Name:

Decreased heart rate variability

Synonym:

Reduced heart rate variability

Definition:

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

Comments:

Reference:

HP:0031861

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased heart rate variability (HP:0031862)

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:0031861	HP:0031861	Decreased heart rate variability	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH	5
HP:0031861	HP:0031861	Decreased heart rate variability	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH	5
HP:0031861	HP:0031861	Decreased heart rate variability	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	86

Genes (2) :MADD PHOX2B

Diseases (3) :OMIM:619004 OMIM:619005 OMIM:209880

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