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
..Absence of the pulmonary valve (HP:0005134)

Term ID:

5134

Name:

Absence of the pulmonary valve

Synonym:

Absent pulmonary valve

Definition:

Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.

Comments:

Reference:

HP:0005134

Genes and Diseases:

Child Nodes:

........

Tetralogy of Fallot with absent pulmonary valve (HP:0011659)

Sister Nodes:

Abnormal pulmonary valve cusp morphology (HP:0031566)

Dysplastic pulmonary valve (HP:0005164)

Pulmonary valve atresia (HP:0010882)

Pulmonary valve defects (HP:0005148)

Pulmonic valve myxoma (HP:0006691)

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:0005134	HP:0005134	Absence of the pulmonary valve	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7	90
HP:0005134	HP:0011659	Tetralogy of Fallot with absent pulmonary valve	1	CL E G H

Genes (1) :FLT4

Diseases (1) :OMIM:618780

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