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 circulating protein concentration (HP:0010876)

Parent Node:
Abnormal B-type natriuretic peptide level (HP:0031138)

..Starting node
..Increased circulating NT-proBNP concentration (HP:0031185)

Term ID:

31185

Name:

Increased circulating NT-proBNP concentration

Synonym:

Increased NT-proBNP level

Definition:

An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).

Comments:

Reference:

HP:0031185

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:0031185	HP:0031185	Increased circulating NT-proBNP concentration	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	407
HP:0031185	HP:0031185	Increased circulating NT-proBNP concentration	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis	107

Genes (2) :GAA TTR

Diseases (2) :OMIM:232300 ORPHA:85451

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