Human Phenotype Ontology 
Grandparent Node:
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Abnormal choroid morphology (HP:0000610)help
Grandparent Node:
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Abnormal retinal morphology (HP:0000479)help
Parent Node:
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Abnormal chorioretinal morphology (HP:0000532)help
..Starting node
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Chorioretinal degeneration (HP:0200065)help
Term ID: 200065
Name: Chorioretinal degeneration
Synonym:
Definition:
Comments:
Reference: HP:0200065
Genes and Diseases:
 
       Child Nodes:
........expandChorioretinal atrophy (HP:0000533) help
................... HP:0007903 Paravenous chorioretinal atrophy
................... HP:0007950 Peripapillary chorioretinal atrophy
................... HP:0030491 Choriocapillaris atrophy
........expandChorioretinal scar (HP:0007777) help

 Sister Nodes: 
..expandAbnormality of chorioretinal pigmentation (HP:0007661) help
..expandCentral serous chorioretinopathy (HP:0025567) help
..expandChorioretinal coloboma (HP:0000567) help
..expandChorioretinal dysplasia (HP:0007731) help
..expandChorioretinal dystrophy (HP:0001135) help
..expandChorioretinal lacunae (HP:0007858) help
..expandChorioretinitis (HP:0012424) 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:0200065HP:0200065Chorioretinal degeneration0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0200065HP:0200065Chorioretinal degeneration0ADAMTS18 CL E G H17069217110OMIM:615458Microcornea, myopic chorioretinal atrophy, and telecanthus.8
HP:0200065HP:0200065Chorioretinal degeneration0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0200065HP:0200065Chorioretinal degeneration0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0200065HP:0200065Chorioretinal degeneration0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0200065HP:0200065Chorioretinal degeneration0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA.47
HP:0200065HP:0200065Chorioretinal degeneration0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0200065HP:0200065Chorioretinal degeneration0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0200065HP:0200065Chorioretinal degeneration0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare3
HP:0200065HP:0200065Chorioretinal degeneration0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0200065HP:0200065Chorioretinal degeneration0CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy156
HP:0200065HP:0200065Chorioretinal degeneration0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0200065HP:0200065Chorioretinal degeneration0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0200065HP:0200065Chorioretinal degeneration0CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy126
HP:0200065HP:0200065Chorioretinal degeneration0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040282 - Frequent126
HP:0200065HP:0200065Chorioretinal degeneration0DPP6 CL E G H18043010OMIM:616311MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD3318
HP:0200065HP:0200065Chorioretinal degeneration0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0200065HP:0200065Chorioretinal degeneration0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0200065HP:0200065Chorioretinal degeneration0FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0200065HP:0200065Chorioretinal degeneration0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0200065HP:0200065Chorioretinal degeneration0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare33
HP:0200065HP:0200065Chorioretinal degeneration0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0200065HP:0200065Chorioretinal degeneration0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0200065HP:0200065Chorioretinal degeneration0GUCY2D CL E G H30004689OMIM:215500Choroidal dystrophy, central areolar 1124
HP:0200065HP:0200065Chorioretinal degeneration0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0200065HP:0200065Chorioretinal degeneration0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency99
HP:0200065HP:0200065Chorioretinal degeneration0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0200065HP:0200065Chorioretinal degeneration0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0200065HP:0200065Chorioretinal degeneration0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0200065HP:0200065Chorioretinal degeneration0LOC111365204 CL E G H111365204OMIM:600790Chorioretinal atrophy, progressive bifocal
HP:0200065HP:0200065Chorioretinal degeneration0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0200065HP:0200065Chorioretinal degeneration0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0200065HP:0200065Chorioretinal degeneration0NDE1 CL E G H5482017619ORPHA:2177Hydranencephaly96
HP:0200065HP:0200065Chorioretinal degeneration0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0200065HP:0200065Chorioretinal degeneration0NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 2730
HP:0200065HP:0200065Chorioretinal degeneration0OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040281 - Very frequent94
HP:0200065HP:0200065Chorioretinal degeneration0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency94
HP:0200065HP:0200065Chorioretinal degeneration0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare4
HP:0200065HP:0200065Chorioretinal degeneration0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0200065HP:0200065Chorioretinal degeneration0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040281 - Very frequent40
HP:0200065HP:0200065Chorioretinal degeneration0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0200065HP:0200065Chorioretinal degeneration0PRPH2 CL E G H59619942OMIM:613105Choroidal dystrophy, central areolar 2159
HP:0200065HP:0200065Chorioretinal degeneration0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0200065HP:0200065Chorioretinal degeneration0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0200065HP:0200065Chorioretinal degeneration0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0200065HP:0200065Chorioretinal degeneration0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0200065HP:0200065Chorioretinal degeneration0RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0200065HP:0200065Chorioretinal degeneration0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0200065HP:0200065Chorioretinal degeneration0SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0200065HP:0200065Chorioretinal degeneration0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0200065HP:0200065Chorioretinal degeneration0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0200065HP:0200065Chorioretinal degeneration0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0200065HP:0200065Chorioretinal degeneration0TEAD1 CL E G H700311714OMIM:108985Sveinsson chorioretinal atrophy1
HP:0200065HP:0200065Chorioretinal degeneration0TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy95
HP:0200065HP:0200065Chorioretinal degeneration0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophy95
HP:0200065HP:0200065Chorioretinal degeneration0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0200065HP:0200065Chorioretinal degeneration0VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy180
HP:0200065HP:0200065Chorioretinal degeneration0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare47
HP:0200065HP:0200065Chorioretinal degeneration0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare8
HP:0200065HP:0200065Chorioretinal degeneration0ZNF408 CL E G H7979720041OMIM:616468Exudative vitreoretinopathy 614
HP:0200065HP:0200065Chorioretinal degeneration0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0200065HP:0007777Chorioretinal scar1 CL E G H
HP:0200065HP:0000533Chorioretinal atrophy1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0200065HP:0000533Chorioretinal atrophy1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040282 - Frequent20
HP:0200065HP:0000533Chorioretinal atrophy1CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0200065HP:0000533Chorioretinal atrophy1CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0200065HP:0000533Chorioretinal atrophy1CHM CL E G H11211940OMIM:303100CHOROIDEREMIA.47
HP:0200065HP:0000533Chorioretinal atrophy1CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0200065HP:0000533Chorioretinal atrophy1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0200065HP:0000533Chorioretinal atrophy1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0200065HP:0000533Chorioretinal atrophy1CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy156
HP:0200065HP:0000533Chorioretinal atrophy1CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2.158
HP:0200065HP:0000533Chorioretinal atrophy1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0200065HP:0000533Chorioretinal atrophy1CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy.126
HP:0200065HP:0000533Chorioretinal atrophy1CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophy126
HP:0200065HP:0000533Chorioretinal atrophy1EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0200065HP:0000533Chorioretinal atrophy1EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25HP:0040284 - Very rare209
HP:0200065HP:0000533Chorioretinal atrophy1FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0200065HP:0000533Chorioretinal atrophy1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0200065HP:0000533Chorioretinal atrophy1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional24
HP:0200065HP:0000533Chorioretinal atrophy1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional124
HP:0200065HP:0000533Chorioretinal atrophy1GUCY2D CL E G H30004689OMIM:215500Choroidal dystrophy, central areolar 1.124
HP:0200065HP:0000533Chorioretinal atrophy1GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0200065HP:0000533Chorioretinal atrophy1HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0200065HP:0000533Chorioretinal atrophy1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0200065HP:0000533Chorioretinal atrophy1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0200065HP:0000533Chorioretinal atrophy1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0200065HP:0000533Chorioretinal atrophy1LOC111365204 CL E G H111365204OMIM:600790Chorioretinal atrophy, progressive bifocal.
HP:0200065HP:0000533Chorioretinal atrophy1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0200065HP:0000533Chorioretinal atrophy1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0200065HP:0000533Chorioretinal atrophy1NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040283 - Occasional96
HP:0200065HP:0000533Chorioretinal atrophy1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0200065HP:0000533Chorioretinal atrophy1NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 27.30
HP:0200065HP:0000533Chorioretinal atrophy1OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040281 - Very frequent94
HP:0200065HP:0000533Chorioretinal atrophy1OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0200065HP:0000533Chorioretinal atrophy1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0200065HP:0000533Chorioretinal atrophy1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional159
HP:0200065HP:0000533Chorioretinal atrophy1PRPH2 CL E G H59619942OMIM:613105Choroidal dystrophy, central areolar 2159
HP:0200065HP:0000533Chorioretinal atrophy1PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7HP:0040283 - Occasional159
HP:0200065HP:0000533Chorioretinal atrophy1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0200065HP:0000533Chorioretinal atrophy1ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 7HP:0040283 - Occasional38
HP:0200065HP:0000533Chorioretinal atrophy1RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0200065HP:0000533Chorioretinal atrophy1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0200065HP:0000533Chorioretinal atrophy1SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0200065HP:0000533Chorioretinal atrophy1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndromeHP:0040284 - Very rare88
HP:0200065HP:0000533Chorioretinal atrophy1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040284 - Very rare88
HP:0200065HP:0000533Chorioretinal atrophy1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0200065HP:0000533Chorioretinal atrophy1TEAD1 CL E G H700311714OMIM:108985Sveinsson chorioretinal atrophy1
HP:0200065HP:0000533Chorioretinal atrophy1TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy95
HP:0200065HP:0000533Chorioretinal atrophy1TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040283 - Occasional95
HP:0200065HP:0000533Chorioretinal atrophy1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0200065HP:0000533Chorioretinal atrophy1VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy.180
HP:0200065HP:0000533Chorioretinal atrophy1ZNF408 CL E G H7979720041OMIM:616468Exudative vitreoretinopathy 6HP:0040283 - Occasional14
HP:0200065HP:0000533Chorioretinal atrophy1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0200065HP:0030491Choriocapillaris atrophy2ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0200065HP:0007950Peripapillary chorioretinal atrophy2CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0200065HP:0007950Peripapillary chorioretinal atrophy2CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0200065HP:0030491Choriocapillaris atrophy2CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8.156
HP:0200065HP:0007903Paravenous chorioretinal atrophy2CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy.156
HP:0200065HP:0030491Choriocapillaris atrophy2CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040282 - Frequent126
HP:0200065HP:0007950Peripapillary chorioretinal atrophy2EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0200065HP:0030491Choriocapillaris atrophy2GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional24
HP:0200065HP:0030491Choriocapillaris atrophy2GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional124
HP:0200065HP:0030491Choriocapillaris atrophy2GUCY2D CL E G H30004689OMIM:215500Choroidal dystrophy, central areolar 1.124
HP:0200065HP:0007950Peripapillary chorioretinal atrophy2NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 27.30
HP:0200065HP:0030491Choriocapillaris atrophy2PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional159
HP:0200065HP:0007950Peripapillary chorioretinal atrophy2TEAD1 CL E G H700311714OMIM:108985Sveinsson chorioretinal atrophy.1
HP:0200065HP:0030491Choriocapillaris atrophy2TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040282 - Frequent95


Genes (50) :ACVRL1 ADAMTS18 C1QTNF5 CFH CFI CHM CLCN2 COL18A1 COL8A2 CRB1 CRX CTNNB1 CYP4V2 DPP6 EFEMP1 EYS FSCN2 FZD4 GRHL2 GUCA1A GUCY2D HADHA HMX1 JAG1 LCA5 LOC111365204 LRAT LRP5 NDE1 NDP NRL OAT OVOL2 PAX2 POU3F4 PRPH2 RNU7-1 ROM1 RP2 RPE65 SAG SLC25A15 SPATA7 TEAD1 TIMP3 TSPAN12 VCAN VSX1 ZEB1 ZNF408

Diseases (44) :OMIM:600376 OMIM:615458 ORPHA:67042 ORPHA:75376 OMIM:303100 OMIM:615651 OMIM:267750 ORPHA:98973 OMIM:613835 OMIM:172870 OMIM:120970 ORPHA:891 OMIM:210370 ORPHA:41751 OMIM:616311 OMIM:602772 OMIM:607921 ORPHA:75377 OMIM:215500 OMIM:601777 ORPHA:5 OMIM:612109 OMIM:118450 ORPHA:364055 OMIM:600790 ORPHA:2177 OMIM:613750 ORPHA:414 OMIM:258870 OMIM:120330 ORPHA:1435 OMIM:613105 OMIM:608133 OMIM:619487 OMIM:312600 OMIM:618697 OMIM:613758 ORPHA:415 OMIM:238970 OMIM:108985 OMIM:136900 ORPHA:59181 OMIM:143200 OMIM:616468
 

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