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 retinal morphology (HP:0000479)

Grandparent Node:
Abnormality of the vasculature of the eye (HP:0008047)

Parent Node:
Abnormal retinal vascular morphology (HP:0008046)

..Starting node
..Retinal vascular proliferation (HP:0007850)

Term ID:

7850

Name:

Retinal vascular proliferation

Synonym:

Definition:

Comments:

Reference:

HP:0007850

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal distribution of retinal arterioles and venules (HP:0007815)

Abnormal retinal artery morphology (HP:0000630)

Attenuation of retinal blood vessels (HP:0007843)

Hypertensive retinopathy (HP:0001095)

Increased retinal vascularity (HP:0007986)

Lipemia retinalis (HP:0000660)

Peripheral retinal avascularization (HP:0007685)

Retinal neovascularization (HP:0030666)

Retinal telangiectasia (HP:0007763)

Retinal vascular malformation (HP:0007797)

Retinal vascular tortuosity (HP:0012841)

Retinal vasculitis (HP:0025188)

Retinal vein occlusion (HP:0012636)

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:0007850	HP:0007850	Retinal vascular proliferation	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0007850	HP:0007850	Retinal vascular proliferation	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0007850	HP:0007850	Retinal vascular proliferation	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952

Genes (2) :IKBKG NF1

Diseases (3) :ORPHA:464 OMIM:308300 ORPHA:97685

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