Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Dysplastic aortic valve (HP:0005176)

Term ID:

5176

Name:

Dysplastic aortic valve

Synonym:

Definition:

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

Comments:

Reference:

HP:0005176

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aortic valve cusp morphology (HP:0031567)

Aortic valve atresia (HP:0010883)

Aortic valve calcification (HP:0004380)

Aortic valve prolapse (HP:0025578)

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:0005176	HP:0005176	Dysplastic aortic valve	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0005176	HP:0005176	Dysplastic aortic valve	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0005176	HP:0005176	Dysplastic aortic valve	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0005176	HP:0005176	Dysplastic aortic valve	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome		5

Genes (4) :ADAMTS19 NFIX PUF60 XYLT2

Diseases (4) :OMIM:620067 OMIM:602535 ORPHA:508488 OMIM:605822

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