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 metabolism/homeostasis (HP:0001939)

Parent Node:
Bloodstream infectious agent (HP:0031863)

..Starting node
..Bacteremia (HP:0031864)

Term ID:

31864

Name:

Bacteremia

Synonym:

Bacteria in blood culture

Definition:

Presence of viable bacteria in the blood.

Comments:

Reference:

HP:0031864

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0031864	HP:0031864	Bacteremia	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040284 - Very rare	79

Genes (1) :ELANE

Diseases (1) :ORPHA:2686

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