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 pulmonary valve morphology (HP:0001641)

Parent Node:
Abnormal pulmonary valve cusp morphology (HP:0031566)

..Starting node
..Bicuspid pulmonary valve (HP:0005182)

Term ID:

5182

Name:

Bicuspid pulmonary valve

Synonym:

Definition:

The presence of a bicuspid pulmonary valve.

Comments:

Reference:

HP:0005182

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005182	HP:0005182	Bicuspid pulmonary valve	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040284 - Very rare	36
HP:0005182	HP:0005182	Bicuspid pulmonary valve	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253

Genes (2) :B3GLCT TGFBR2

Diseases (2) :ORPHA:709 OMIM:610168

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