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 heart valve morphology (HP:0001654)

Parent Node:
Abnormal pulmonary valve morphology (HP:0001641)

..Starting node
..Pulmonary valve defects (HP:0005148)

Term ID:

5148

Name:

Pulmonary valve defects

Synonym:

Definition:

Any defect in the valve connecting the heart and the pulmonary artery.

Comments:

Reference:

HP:0005148

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pulmonary valve cusp morphology (HP:0031566)

Absence of the pulmonary valve (HP:0005134)

Dysplastic pulmonary valve (HP:0005164)

Pulmonary valve atresia (HP:0010882)

Pulmonic valve myxoma (HP:0006691)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005148	HP:0005148	Pulmonary valve defects	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167

Genes (1) :KIF7

Diseases (1) :OMIM:200990

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