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 cardiovascular system physiology (HP:0011025)

Parent Node:
Abnormal cardiac atrial physiology (HP:0025443)

..Starting node
..Elevated right atrial pressure (HP:0005168)

Term ID:

5168

Name:

Elevated right atrial pressure

Synonym:

Definition:

An abnormal increase in magnitude of the pressure in the right atrium.

Comments:

Reference:

HP:0005168

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated left atrial pressure (HP:0031299)

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:0005168	HP:0005168	Elevated right atrial pressure	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	HP:0040281 - Very frequent	525

Genes (1) :BMPR2

Diseases (1) :OMIM:178600

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