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
..Pulmonic valve myxoma (HP:0006691)

Term ID:

6691

Name:

Pulmonic valve myxoma

Synonym:

Definition:

Comments:

Reference:

HP:0006691

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)

Pulmonary valve defects (HP:0005148)

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:0006691	HP:0006691	Pulmonic valve myxoma	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040281 - Very frequent	134
HP:0006691	HP:0006691	Pulmonic valve myxoma	0	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.	134

Genes (1) :PRKAR1A

Diseases (2) :ORPHA:615 OMIM:255960

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