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

..Starting node
..Subpulmonary stenosis (HP:0034348)

Term ID:

34348

Name:

Subpulmonary stenosis

Synonym:

Infundibular pulmonary stenosis; Infundibular pulmonic stenosis; Subvalvar pulmonary stenosis; Subvalvar pulmonic stenosis; Subvalvular pulmonary stenosis; Subvalvular pulmonic stenosis

Definition:

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

Comments:

Reference:

HP:0034348

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:0034348	HP:0034348	Subpulmonary 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.

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