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
..Valvular pulmonary stenosis (HP:0034350)

Term ID:

34350

Name:

Valvular pulmonary stenosis

Synonym:

Definition:

A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.

Comments:

Reference:

HP:0034350

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:0034350	HP:0034350	Valvular pulmonary stenosis	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	4

Genes (1) :PLD1

Diseases (1) :OMIM:212093

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