Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 endocardium morphology (HP:0004306)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Endocarditis (HP:0100584)

..Starting node
..Bacterial endocarditis (HP:0006689)

Term ID:

6689

Name:

Bacterial endocarditis

Synonym:

Infective endocarditis

Definition:

A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.

Comments:

Reference:

HP:0006689

Genes and Diseases:

Child Nodes:

Sister Nodes:

Libman-Sacks lesions (HP:0011714)

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:0006689	HP:0006689	Bacterial endocarditis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0006689	HP:0006689	Bacterial endocarditis	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0006689	HP:0006689	Bacterial endocarditis	0	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.	134

Genes (2) :GBA1 PRKAR1A

Diseases (3) :ORPHA:2072 ORPHA:615 OMIM:255960

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