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
..Supravalvar pulmonary stenosis (HP:0034349)

Term ID:

34349

Name:

Supravalvar pulmonary stenosis

Synonym:

Supravalvar pulmonnic stenosis; Supravalvular pulmonary stenosis; Supravalvular pulmonic stenosis

Definition:

A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.

Comments:

Reference:

HP:0034349

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034349	HP:0034349	Supravalvar pulmonary stenosis	0	CL E G H

Genes (0) :

Diseases (0) :

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