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:
Abnormality of the cardiovascular system (HP:0001626)

Parent Node:
Abnormal cardiovascular system physiology (HP:0011025)

..Starting node
..Abnormal cardiac atrial physiology (HP:0025443)

Term ID:

25443

Name:

Abnormal cardiac atrial physiology

Synonym:

Definition:

An abnormality of the function of the cardiac atria.

Comments:

Reference:

HP:0025443

Genes and Diseases:

Child Nodes:

........

Elevated right atrial pressure (HP:0005168)

........

Elevated left atrial pressure (HP:0031299)

Sister Nodes:

Abnormal cardiac ventricular function (HP:0030872)

Abnormal echocardiogram (HP:0003116)

Abnormal heart sound (HP:0031657)

Abnormal heart valve physiology (HP:0031653)

Abnormal systemic blood pressure (HP:0030972)

Abnormal vascular physiology (HP:0030163)

Abnormality of blood circulation (HP:0011028)

Abnormality of cardiovascular system electrophysiology (HP:0030956)

Angina pectoris (HP:0001681)

Congestive heart failure (HP:0001635)

Myocardial infarction (HP:0001658)

Shock (HP:0031273)

Syncope (HP:0001279)

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:0025443	HP:0025443	Abnormal cardiac atrial physiology	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0025443	HP:0031299	Elevated left atrial pressure	1	CL E G H
HP:0025443	HP:0005168	Elevated right atrial pressure	1	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.