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
..Dysplastic pulmonary valve (HP:0005164)

Term ID:

5164

Name:

Dysplastic pulmonary valve

Synonym:

Dysplasia of pulmonary valve; Pulmonary valve dysplasia

Definition:

A congenital malformation of the pulmonary valve characterized by leaflet deformation.

Comments:

Reference:

HP:0005164

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pulmonary valve cusp morphology (HP:0031566)

Absence of the pulmonary valve (HP:0005134)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005164	HP:0005164	Dysplastic pulmonary valve	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0005164	HP:0005164	Dysplastic pulmonary valve	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0005164	HP:0005164	Dysplastic pulmonary valve	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0005164	HP:0005164	Dysplastic pulmonary valve	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (4) :DDX3X KAT5 POLR3A ZNF699

Diseases (4) :OMIM:300958 OMIM:619103 ORPHA:3455 OMIM:619488

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