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 retinal vascular morphology (HP:0008046)

Parent Node:
Retinal neovascularization (HP:0030666)

..Starting node
..Peripheral retinal neovascularization (HP:0030667)

Term ID:

30667

Name:

Peripheral retinal neovascularization

Synonym:

Definition:

A type of retinal neovascularization that affects the periphery of the retina.

Comments:

Reference:

HP:0030667

Genes and Diseases:

Child Nodes:

Sister Nodes:

Posterior retinal neovascularization (HP:0007778)

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:0030667	HP:0030667	Peripheral retinal neovascularization	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6

Genes (1) :CAPN5

Diseases (1) :OMIM:193235

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