Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal retinal morphology (HP:0000479)help
Grandparent Node:
expand
Abnormality of the vasculature of the eye (HP:0008047)help
Parent Node:
expand
Abnormal retinal vascular morphology (HP:0008046)help
..Starting node
..expand
Retinal neovascularization (HP:0030666)help
Term ID: 30666
Name: Retinal neovascularization
Synonym: Retinal neovascularisation
Definition: In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.
Comments:
Reference: HP:0030666
Genes and Diseases:
 
       Child Nodes:
........expandPosterior retinal neovascularization (HP:0007778) help
........expandPeripheral retinal neovascularization (HP:0030667) help

 Sister Nodes: 
..expandAbnormal distribution of retinal arterioles and venules (HP:0007815) help
..expandAbnormal retinal artery morphology (HP:0000630) help
..expandAttenuation of retinal blood vessels (HP:0007843) help
..expandHypertensive retinopathy (HP:0001095) help
..expandIncreased retinal vascularity (HP:0007986) help
..expandLipemia retinalis (HP:0000660) help
..expandPeripheral retinal avascularization (HP:0007685) help
..expandRetinal telangiectasia (HP:0007763) help
..expandRetinal vascular malformation (HP:0007797) help
..expandRetinal vascular proliferation (HP:0007850) help
..expandRetinal vascular tortuosity (HP:0012841) help
..expandRetinal vasculitis (HP:0025188) help
..expandRetinal vein occlusion (HP:0012636) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030666HP:0030666Retinal neovascularization0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0030666HP:0030666Retinal neovascularization0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory6
HP:0030666HP:0030666Retinal neovascularization0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent88
HP:0030666HP:0030666Retinal neovascularization0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent109
HP:0030666HP:0030666Retinal neovascularization0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent125
HP:0030666HP:0030666Retinal neovascularization0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0030666HP:0030666Retinal neovascularization0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linkedHP:0040283 - Occasional39
HP:0030666HP:0030666Retinal neovascularization0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0030666HP:0030666Retinal neovascularization0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0030666HP:0030666Retinal neovascularization0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0030666HP:0030666Retinal neovascularization0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent14
HP:0030666HP:0007778Posterior retinal neovascularization1CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6
HP:0030666HP:0030667Peripheral retinal neovascularization1CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6


Genes (10) :BEST1 CAPN5 CTNNB1 FZD4 LRP5 LRRC32 NDP TREX1 TSPAN12 ZNF408

Diseases (6) :OMIM:193220 OMIM:193235 ORPHA:891 OMIM:619074 OMIM:305390 ORPHA:247691
 

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