Human Phenotype Ontology 
Grandparent Node:
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Abnormal choroid morphology (HP:0000610)help
Parent Node:
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Abnormal macular morphology (HP:0001103)help
Parent Node:
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Abnormal morphology of the choroidal vasculature (HP:0025568)help
..Starting node
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Choroidal neovascularization (HP:0011506)help
Term ID: 11506
Name: Choroidal neovascularization
Synonym: Choroidal neovascular membrane
Definition: Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
Comments:
Reference: HP:0011506
Genes and Diseases:
 
       Child Nodes:
........expandExtrafoveal choroidal neovascularization (HP:0031239) help
........expandJuxtafoveal choroidal neovascularization (HP:0031240) help
........expandSubfoveal choroidal neovascularization (HP:0031241) help

 Sister Nodes: 
..expandChoroidal hemangioma (HP:0007872) help
..expandChoroidal vascular hyperpermeability (HP:0025570) help
..expandDilatation of large choroidal vessels (HP:0030979) help
..expandPolypoidal choroidal vasculopathy (HP:0025569) 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:0011506HP:0011506Choroidal neovascularization0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0011506HP:0011506Choroidal neovascularization0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0011506HP:0011506Choroidal neovascularization0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I.260
HP:0011506HP:0011506Choroidal neovascularization0APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 1HP:0040284 - Very rare39
HP:0011506HP:0011506Choroidal neovascularization0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040282 - Frequent20
HP:0011506HP:0011506Choroidal neovascularization0CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0011506HP:0011506Choroidal neovascularization0CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1HP:0040284 - Very rare
HP:0011506HP:0011506Choroidal neovascularization0CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1HP:0040284 - Very rare
HP:0011506HP:0011506Choroidal neovascularization0CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0011506HP:0011506Choroidal neovascularization0CFI CL E G H34265394OMIM:615439Macular degeneration, age-related, 1357
HP:0011506HP:0011506Choroidal neovascularization0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0011506HP:0011506Choroidal neovascularization0CLEC3B CL E G H712311891OMIM:619977
HP:0011506HP:0011506Choroidal neovascularization0EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0011506HP:0011506Choroidal neovascularization0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0011506HP:0011506Choroidal neovascularization0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0011506HP:0011506Choroidal neovascularization0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0011506HP:0011506Choroidal neovascularization0FBN2 CL E G H22013604OMIM:616118MACULAR DEGENERATION, EARLY-ONSET; EOMD655
HP:0011506HP:0011506Choroidal neovascularization0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040283 - Occasional4
HP:0011506HP:0011506Choroidal neovascularization0HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1HP:0040284 - Very rare262
HP:0011506HP:0011506Choroidal neovascularization0MAPKAPK3 CL E G H78676888OMIM:617111Macular dystrophy, patterned, 3HP:0040284 - Very rare1
HP:0011506HP:0011506Choroidal neovascularization0PRPH2 CL E G H59619942OMIM:169150Macular dystrophy, patterned, 1HP:0040284 - Very rare159
HP:0011506HP:0011506Choroidal neovascularization0PRPH2 CL E G H59619942OMIM:608161Macular dystrophy, vitelliform, 3HP:0040284 - Very rare159
HP:0011506HP:0011506Choroidal neovascularization0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040282 - Frequent95
HP:0011506HP:0011506Choroidal neovascularization0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0011506HP:0011506Choroidal neovascularization0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0011506HP:0031240Juxtafoveal choroidal neovascularization1 CL E G H
HP:0011506HP:0031239Extrafoveal choroidal neovascularization1 CL E G H
HP:0011506HP:0031241Subfoveal choroidal neovascularization1 CL E G H


Genes (22) :ABCC6 AGXT APOE C1QTNF5 CFH CFHR1 CFHR3 CFI CLCN2 CLEC3B EFEMP1 ENPP1 FBLN1 FBLN5 FBN2 HLA-A HMCN1 MAPKAPK3 PRPH2 TIMP3 XYLT1 XYLT2

Diseases (17) :ORPHA:51608 OMIM:264800 OMIM:259900 OMIM:603075 ORPHA:67042 ORPHA:75376 OMIM:615439 OMIM:615651 OMIM:619977 ORPHA:404451 OMIM:608895 OMIM:616118 ORPHA:179 OMIM:617111 OMIM:169150 OMIM:608161 ORPHA:59181
 

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