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 degeneration (HP:0000546)

Parent Node:
obsolete Vitreoretinal degeneration (HP:0000655)

..Starting node
..Peripheral vitreoretinal degeneration (HP:0200071)

Term ID:

200071

Name:

Peripheral vitreoretinal degeneration

Synonym:

Definition:

A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.

Comments:

Reference:

HP:0200071

Genes and Diseases:

Child Nodes:

Sister Nodes:

Snowflake vitreoretinal degeneration (HP:0011533)

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:0200071	HP:0200071	Peripheral vitreoretinal degeneration	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	.	5

Genes (1) :P3H2

Diseases (1) :OMIM:614292

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