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 aortic valve morphology (HP:0001646)

..Starting node
..Aortic valve atresia (HP:0010883)

Term ID:

10883

Name:

Aortic valve atresia

Synonym:

Aortic atresia

Definition:

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

Comments:

Reference:

HP:0010883

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aortic valve cusp morphology (HP:0031567)

Aortic valve calcification (HP:0004380)

Aortic valve prolapse (HP:0025578)

Dysplastic aortic valve (HP:0005176)

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:0010883	HP:0010883	Aortic valve atresia	0	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.	90
HP:0010883	HP:0010883	Aortic valve atresia	0	PLCH1 CL E G H	23007	29185	OMIM:619895

Genes (2) :NKX2-5 PLCH1

Diseases (2) :OMIM:614435 OMIM:619895

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