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

..Starting node
..Increased circulating brain natriuretic peptide concentration (HP:0033534)

Term ID:

33534

Name:

Increased circulating brain natriuretic peptide concentration

Synonym:

Elevated circulating BNP concentration; Increased B-type natriuretic peptide; Increased ventricular natriuretic peptide

Definition:

An increased concentration of brain natriuretic peptide in the blood circulation.

Comments:

Reference:

HP:0033534

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033534	HP:0033534	Increased circulating brain natriuretic peptide concentration	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0033534	HP:0033534	Increased circulating brain natriuretic peptide concentration	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	248

Genes (2) :BAG5 TNNT2

Diseases (2) :OMIM:619747 OMIM:601494

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