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:
Retinal detachment (HP:0000541)

Parent Node:
Tractional retinal detachment (HP:0007917)

..Starting node
..Peripheral tractional retinal detachment (HP:0007643)

Term ID:

7643

Name:

Peripheral tractional retinal detachment

Synonym:

Peripheral traction retinal detachment; Tractional retinal detachment at the periphery of the retina

Definition:

Tractional retinal detachment at the periphery of the retina.

Comments:

Reference:

HP:0007643

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:0007643	HP:0007643	Peripheral tractional retinal detachment	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.	180

Genes (1) :VCAN

Diseases (1) :OMIM:143200

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