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 atresia (HP:0010882)

Term ID:

10882

Name:

Pulmonary valve atresia

Synonym:

Definition:

A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.

Comments:

Reference:

HP:0010882

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 defects (HP:0005148)

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:0010882	HP:0010882	Pulmonary valve atresia	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0010882	HP:0010882	Pulmonary valve atresia	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0010882	HP:0010882	Pulmonary valve atresia	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent	36
HP:0010882	HP:0010882	Pulmonary valve atresia	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2

Genes (3) :FOXF1 PIGL POLA1

Diseases (4) :OMIM:265380 ORPHA:210122 ORPHA:3474 OMIM:301030

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