Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the vasculature (HP:0002597)help
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal retinal morphology (HP:0000479)help
Parent Node:
expand
Abnormality of the vasculature of the eye (HP:0008047)help
..Starting node
..expand
Abnormal retinal vascular morphology (HP:0008046)help
Term ID: 8046
Name: Abnormal retinal vascular morphology
Synonym: Abnormality of retina blood vessels; Abnormality of the retinal vasculature
Definition: A structural abnormality of retinal vasculature.
Comments:
Reference: HP:0008046
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal retinal artery morphology (HP:0000630) help
................... HP:0000631 Retinal arterial tortuosity
................... HP:0001136 Retinal arteriolar tortuosity
................... HP:0007985 Retinal arteriolar occlusion
................... HP:0008014 Central fundal arteriolar microaneurysms
................... HP:0008030 Retinal arteritis
................... HP:0008043 Retinal arteriolar constriction
................... HP:0010729 Cherry red spot of the macula
................... HP:0025326 Retinal arterial occlusion
................... HP:0025355 Retinal arterial macroaneurysms
........expandLipemia retinalis (HP:0000660) help
........expandHypertensive retinopathy (HP:0001095) help
........expandPeripheral retinal avascularization (HP:0007685) help
........expandRetinal telangiectasia (HP:0007763) help
................... HP:0030503 Macular telangiectasia
........expandRetinal vascular malformation (HP:0007797) help
................... HP:0011513 Retinal cavernous angioma
........expandAbnormal distribution of retinal arterioles and venules (HP:0007815) help
........expandAttenuation of retinal blood vessels (HP:0007843) help
........expandRetinal vascular proliferation (HP:0007850) help
........expandIncreased retinal vascularity (HP:0007986) help
........expandRetinal vein occlusion (HP:0012636) help
........expandRetinal vascular tortuosity (HP:0012841) help
................... HP:0000631 Retinal arterial tortuosity
................... HP:0001136 Retinal arteriolar tortuosity
........expandRetinal vasculitis (HP:0025188) help
................... HP:0008030 Retinal arteritis
........expandRetinal neovascularization (HP:0030666) help
................... HP:0007778 Posterior retinal neovascularization
................... HP:0030667 Peripheral retinal neovascularization

 Sister Nodes: 
..expandAbnormal iris vasculature (HP:0007905) help
..expandAbnormal morphology of the conjunctival vasculature (HP:0008054) help
..expandRed eye (HP:0025337) 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:0008046HP:0008046Abnormal retinal vascular morphology0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0008046HP:0008046Abnormal retinal vascular morphology0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0008046HP:0008046Abnormal retinal vascular morphology0ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0008046HP:0008046Abnormal retinal vascular morphology0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0008046HP:0008046Abnormal retinal vascular morphology0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0008046HP:0008046Abnormal retinal vascular morphology0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0008046HP:0008046Abnormal retinal vascular morphology0AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0008046HP:0008046Abnormal retinal vascular morphology0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0008046HP:0008046Abnormal retinal vascular morphology0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0008046HP:0008046Abnormal retinal vascular morphology0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4114
HP:0008046HP:0008046Abnormal retinal vascular morphology0APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0008046HP:0008046Abnormal retinal vascular morphology0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0008046HP:0008046Abnormal retinal vascular morphology0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0008046HP:0008046Abnormal retinal vascular morphology0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0008046HP:0008046Abnormal retinal vascular morphology0ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0008046HP:0008046Abnormal retinal vascular morphology0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0008046HP:0008046Abnormal retinal vascular morphology0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0008046HP:0008046Abnormal retinal vascular morphology0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0008046HP:0008046Abnormal retinal vascular morphology0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0008046HP:0008046Abnormal retinal vascular morphology0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0008046HP:0008046Abnormal retinal vascular morphology0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0008046HP:0008046Abnormal retinal vascular morphology0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0008046HP:0008046Abnormal retinal vascular morphology0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0008046HP:0008046Abnormal retinal vascular morphology0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0008046HP:0008046Abnormal retinal vascular morphology0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0008046HP:0008046Abnormal retinal vascular morphology0BEST1 CL E G H743912703OMIM:613194Retinitis pigmentosa-50182
HP:0008046HP:0008046Abnormal retinal vascular morphology0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0008046HP:0008046Abnormal retinal vascular morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0008046HP:0008046Abnormal retinal vascular morphology0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory6
HP:0008046HP:0008046Abnormal retinal vascular morphology0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0008046HP:0008046Abnormal retinal vascular morphology0CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformation37
HP:0008046HP:0008046Abnormal retinal vascular morphology0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0008046HP:0008046Abnormal retinal vascular morphology0CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0008046HP:0008046Abnormal retinal vascular morphology0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0008046HP:0008046Abnormal retinal vascular morphology0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0008046HP:0008046Abnormal retinal vascular morphology0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0008046HP:0008046Abnormal retinal vascular morphology0CERKL CL E G H37529821699OMIM:608380Retinitis pigmentosa 2671
HP:0008046HP:0008046Abnormal retinal vascular morphology0CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0008046HP:0008046Abnormal retinal vascular morphology0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0008046HP:0008046Abnormal retinal vascular morphology0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0008046HP:0008046Abnormal retinal vascular morphology0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0008046HP:0008046Abnormal retinal vascular morphology0CLCNKB CL E G H11882027OMIM:607364Bartter syndrome, type 3.27
HP:0008046HP:0008046Abnormal retinal vascular morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0008046HP:0008046Abnormal retinal vascular morphology0CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0008046HP:0008046Abnormal retinal vascular morphology0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0008046HP:0008046Abnormal retinal vascular morphology0CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0008046HP:0008046Abnormal retinal vascular morphology0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0008046HP:0008046Abnormal retinal vascular morphology0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0008046HP:0008046Abnormal retinal vascular morphology0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0008046HP:0008046Abnormal retinal vascular morphology0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0008046HP:0008046Abnormal retinal vascular morphology0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0008046HP:0008046Abnormal retinal vascular morphology0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps193
HP:0008046HP:0008046Abnormal retinal vascular morphology0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0008046HP:0008046Abnormal retinal vascular morphology0COL4A1 CL E G H12822202ORPHA:73229HANAC syndrome193
HP:0008046HP:0008046Abnormal retinal vascular morphology0COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of193
HP:0008046HP:0008046Abnormal retinal vascular morphology0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0008046HP:0008046Abnormal retinal vascular morphology0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0008046HP:0008046Abnormal retinal vascular morphology0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0008046HP:0008046Abnormal retinal vascular morphology0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0008046HP:0008046Abnormal retinal vascular morphology0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0008046HP:0008046Abnormal retinal vascular morphology0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0008046HP:0008046Abnormal retinal vascular morphology0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0008046HP:0008046Abnormal retinal vascular morphology0CTSA CL E G H54769251ORPHA:351Galactosialidosis51
HP:0008046HP:0008046Abnormal retinal vascular morphology0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucoma101
HP:0008046HP:0008046Abnormal retinal vascular morphology0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0008046HP:0008046Abnormal retinal vascular morphology0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008046HP:0008046Abnormal retinal vascular morphology0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0008046HP:0008046Abnormal retinal vascular morphology0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0008046HP:0008046Abnormal retinal vascular morphology0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008046HP:0008046Abnormal retinal vascular morphology0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008046HP:0008046Abnormal retinal vascular morphology0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046HP:0008046Abnormal retinal vascular morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0008046HP:0008046Abnormal retinal vascular morphology0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent79
HP:0008046HP:0008046Abnormal retinal vascular morphology0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent
HP:0008046HP:0008046Abnormal retinal vascular morphology0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucoma54
HP:0008046HP:0008046Abnormal retinal vascular morphology0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008046HP:0008046Abnormal retinal vascular morphology0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008046HP:0008046Abnormal retinal vascular morphology0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0008046HP:0008046Abnormal retinal vascular morphology0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0008046HP:0008046Abnormal retinal vascular morphology0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0008046HP:0008046Abnormal retinal vascular morphology0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0008046HP:0008046Abnormal retinal vascular morphology0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0008046HP:0008046Abnormal retinal vascular morphology0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathy42
HP:0008046HP:0008046Abnormal retinal vascular morphology0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0008046HP:0008046Abnormal retinal vascular morphology0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0008046HP:0008046Abnormal retinal vascular morphology0F12 CL E G H21613530ORPHA:330Congenital factor XII deficiency28
HP:0008046HP:0008046Abnormal retinal vascular morphology0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0008046HP:0008046Abnormal retinal vascular morphology0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0008046HP:0008046Abnormal retinal vascular morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0008046HP:0008046Abnormal retinal vascular morphology0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent1
HP:0008046HP:0008046Abnormal retinal vascular morphology0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0008046HP:0008046Abnormal retinal vascular morphology0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0008046HP:0008046Abnormal retinal vascular morphology0FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0008046HP:0008046Abnormal retinal vascular morphology0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1109
HP:0008046HP:0008046Abnormal retinal vascular morphology0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0008046HP:0008046Abnormal retinal vascular morphology0FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurityHP:0040281 - Very frequent109
HP:0008046HP:0008046Abnormal retinal vascular morphology0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0008046HP:0008046Abnormal retinal vascular morphology0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0008046HP:0008046Abnormal retinal vascular morphology0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0008046HP:0008046Abnormal retinal vascular morphology0GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa129
HP:0008046HP:0008046Abnormal retinal vascular morphology0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0008046HP:0008046Abnormal retinal vascular morphology0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0008046HP:0008046Abnormal retinal vascular morphology0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0008046HP:0008046Abnormal retinal vascular morphology0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0008046HP:0008046Abnormal retinal vascular morphology0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0008046HP:0008046Abnormal retinal vascular morphology0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0008046HP:0008046Abnormal retinal vascular morphology0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID12
HP:0008046HP:0008046Abnormal retinal vascular morphology0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0008046HP:0008046Abnormal retinal vascular morphology0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0008046HP:0008046Abnormal retinal vascular morphology0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0008046HP:0008046Abnormal retinal vascular morphology0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0008046HP:0008046Abnormal retinal vascular morphology0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0008046HP:0008046Abnormal retinal vascular morphology0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0008046HP:0008046Abnormal retinal vascular morphology0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0008046HP:0008046Abnormal retinal vascular morphology0HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0008046HP:0008046Abnormal retinal vascular morphology0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040281 - Very frequent4
HP:0008046HP:0008046Abnormal retinal vascular morphology0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0008046HP:0008046Abnormal retinal vascular morphology0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0008046HP:0008046Abnormal retinal vascular morphology0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0008046HP:0008046Abnormal retinal vascular morphology0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0008046HP:0008046Abnormal retinal vascular morphology0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0008046HP:0008046Abnormal retinal vascular morphology0IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0008046HP:0008046Abnormal retinal vascular morphology0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0008046HP:0008046Abnormal retinal vascular morphology0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0008046HP:0008046Abnormal retinal vascular morphology0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008046HP:0008046Abnormal retinal vascular morphology0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0008046HP:0008046Abnormal retinal vascular morphology0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0008046HP:0008046Abnormal retinal vascular morphology0IFT172 CL E G H2616030391OMIM:616394Retinitis pigmentosa 7148
HP:0008046HP:0008046Abnormal retinal vascular morphology0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0008046HP:0008046Abnormal retinal vascular morphology0IGFBP7 CL E G H34905476OMIM:614224Retinal arterial macroaneurysm with supravalvular pulmonic stenosis2
HP:0008046HP:0008046Abnormal retinal vascular morphology0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0008046HP:0008046Abnormal retinal vascular morphology0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0008046HP:0008046Abnormal retinal vascular morphology0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0008046HP:0008046Abnormal retinal vascular morphology0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0008046HP:0008046Abnormal retinal vascular morphology0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0008046HP:0008046Abnormal retinal vascular morphology0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0008046HP:0008046Abnormal retinal vascular morphology0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0008046HP:0008046Abnormal retinal vascular morphology0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0008046HP:0008046Abnormal retinal vascular morphology0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0008046HP:0008046Abnormal retinal vascular morphology0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0008046HP:0008046Abnormal retinal vascular morphology0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0008046HP:0008046Abnormal retinal vascular morphology0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0008046HP:0008046Abnormal retinal vascular morphology0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0008046HP:0008046Abnormal retinal vascular morphology0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0008046HP:0008046Abnormal retinal vascular morphology0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0008046HP:0008046Abnormal retinal vascular morphology0KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 192
HP:0008046HP:0008046Abnormal retinal vascular morphology0KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformation92
HP:0008046HP:0008046Abnormal retinal vascular morphology0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008046HP:0008046Abnormal retinal vascular morphology0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0008046HP:0008046Abnormal retinal vascular morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome3
HP:0008046HP:0008046Abnormal retinal vascular morphology0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia106
HP:0008046HP:0008046Abnormal retinal vascular morphology0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0008046HP:0008046Abnormal retinal vascular morphology0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0008046HP:0008046Abnormal retinal vascular morphology0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1125
HP:0008046HP:0008046Abnormal retinal vascular morphology0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4125
HP:0008046HP:0008046Abnormal retinal vascular morphology0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0008046HP:0008046Abnormal retinal vascular morphology0LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurityHP:0040281 - Very frequent125
HP:0008046HP:0008046Abnormal retinal vascular morphology0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008046HP:0008046Abnormal retinal vascular morphology0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0008046HP:0008046Abnormal retinal vascular morphology0MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0008046HP:0008046Abnormal retinal vascular morphology0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0008046HP:0008046Abnormal retinal vascular morphology0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0008046HP:0008046Abnormal retinal vascular morphology0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0008046HP:0008046Abnormal retinal vascular morphology0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008046HP:0008046Abnormal retinal vascular morphology0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0008046HP:0008046Abnormal retinal vascular morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0008046HP:0008046Abnormal retinal vascular morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0008046HP:0008046Abnormal retinal vascular morphology0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0008046HP:0008046Abnormal retinal vascular morphology0MYOC CL E G H46537610ORPHA:98977Juvenile glaucoma47
HP:0008046HP:0008046Abnormal retinal vascular morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0008046HP:0008046Abnormal retinal vascular morphology0NDP CL E G H46937678ORPHA:190Coats diseaseHP:0040281 - Very frequent39
HP:0008046HP:0008046Abnormal retinal vascular morphology0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0008046HP:0008046Abnormal retinal vascular morphology0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0008046HP:0008046Abnormal retinal vascular morphology0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0008046HP:0008046Abnormal retinal vascular morphology0NDP CL E G H46937678ORPHA:90050Retinopathy of prematurityHP:0040281 - Very frequent39
HP:0008046HP:0008046Abnormal retinal vascular morphology0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0008046HP:0008046Abnormal retinal vascular morphology0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0008046HP:0008046Abnormal retinal vascular morphology0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0008046HP:0008046Abnormal retinal vascular morphology0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0008046HP:0008046Abnormal retinal vascular morphology0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0008046HP:0008046Abnormal retinal vascular morphology0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency43
HP:0008046HP:0008046Abnormal retinal vascular morphology0NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0008046HP:0008046Abnormal retinal vascular morphology0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0008046HP:0008046Abnormal retinal vascular morphology0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0008046HP:0008046Abnormal retinal vascular morphology0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0008046HP:0008046Abnormal retinal vascular morphology0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0008046HP:0008046Abnormal retinal vascular morphology0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0008046HP:0008046Abnormal retinal vascular morphology0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0008046HP:0008046Abnormal retinal vascular morphology0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0008046HP:0008046Abnormal retinal vascular morphology0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0008046HP:0008046Abnormal retinal vascular morphology0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0008046HP:0008046Abnormal retinal vascular morphology0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008046HP:0008046Abnormal retinal vascular morphology0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0008046HP:0008046Abnormal retinal vascular morphology0PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54
HP:0008046HP:0008046Abnormal retinal vascular morphology0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndrome1
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformation21
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 5718
HP:0008046HP:0008046Abnormal retinal vascular morphology0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0008046HP:0008046Abnormal retinal vascular morphology0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0008046HP:0008046Abnormal retinal vascular morphology0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0008046HP:0008046Abnormal retinal vascular morphology0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPF3 CL E G H912917348OMIM:601414Retinitis pigmentosa 1828
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0008046HP:0008046Abnormal retinal vascular morphology0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescens159
HP:0008046HP:0008046Abnormal retinal vascular morphology0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0008046HP:0008046Abnormal retinal vascular morphology0RAX2 CL E G H8483918286OMIM:62010252
HP:0008046HP:0008046Abnormal retinal vascular morphology0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0008046HP:0008046Abnormal retinal vascular morphology0RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 1345
HP:0008046HP:0008046Abnormal retinal vascular morphology0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0008046HP:0008046Abnormal retinal vascular morphology0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescens32
HP:0008046HP:0008046Abnormal retinal vascular morphology0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0008046HP:0008046Abnormal retinal vascular morphology0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0008046HP:0008046Abnormal retinal vascular morphology0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0008046HP:0008046Abnormal retinal vascular morphology0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0008046HP:0008046Abnormal retinal vascular morphology0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0008046HP:0008046Abnormal retinal vascular morphology0RGR CL E G H59959990OMIM:613769RETINITIS PIGMENTOSA 44; RP4428
HP:0008046HP:0008046Abnormal retinal vascular morphology0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0008046HP:0008046Abnormal retinal vascular morphology0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4107
HP:0008046HP:0008046Abnormal retinal vascular morphology0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescens107
HP:0008046HP:0008046Abnormal retinal vascular morphology0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0008046HP:0008046Abnormal retinal vascular morphology0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescens47
HP:0008046HP:0008046Abnormal retinal vascular morphology0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0008046HP:0008046Abnormal retinal vascular morphology0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0008046HP:0008046Abnormal retinal vascular morphology0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0008046HP:0008046Abnormal retinal vascular morphology0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0008046HP:0008046Abnormal retinal vascular morphology0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0008046HP:0008046Abnormal retinal vascular morphology0RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0008046HP:0008046Abnormal retinal vascular morphology0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0008046HP:0008046Abnormal retinal vascular morphology0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0008046HP:0008046Abnormal retinal vascular morphology0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0008046HP:0008046Abnormal retinal vascular morphology0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0008046HP:0008046Abnormal retinal vascular morphology0RPE65 CL E G H612110294OMIM:613794Retinitis pigmentosa 20129
HP:0008046HP:0008046Abnormal retinal vascular morphology0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0008046HP:0008046Abnormal retinal vascular morphology0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0008046HP:0008046Abnormal retinal vascular morphology0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0008046HP:0008046Abnormal retinal vascular morphology0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6109
HP:0008046HP:0008046Abnormal retinal vascular morphology0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008046HP:0008046Abnormal retinal vascular morphology0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0008046HP:0008046Abnormal retinal vascular morphology0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0008046HP:0008046Abnormal retinal vascular morphology0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0008046HP:0008046Abnormal retinal vascular morphology0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0008046HP:0008046Abnormal retinal vascular morphology0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0008046HP:0008046Abnormal retinal vascular morphology0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008046HP:0008046Abnormal retinal vascular morphology0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0008046HP:0008046Abnormal retinal vascular morphology0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 1048
HP:0008046HP:0008046Abnormal retinal vascular morphology0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0008046HP:0008046Abnormal retinal vascular morphology0SERPINC1 CL E G H462775ORPHA:82Hereditary thrombophilia due to congenital antithrombin deficiency88
HP:0008046HP:0008046Abnormal retinal vascular morphology0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008046HP:0008046Abnormal retinal vascular morphology0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib110
HP:0008046HP:0008046Abnormal retinal vascular morphology0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008046HP:0008046Abnormal retinal vascular morphology0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0008046HP:0008046Abnormal retinal vascular morphology0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0008046HP:0008046Abnormal retinal vascular morphology0SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophyHP:0040282 - Frequent174
HP:0008046HP:0008046Abnormal retinal vascular morphology0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0008046HP:0008046Abnormal retinal vascular morphology0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0008046HP:0008046Abnormal retinal vascular morphology0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0008046HP:0008046Abnormal retinal vascular morphology0SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0008046HP:0008046Abnormal retinal vascular morphology0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0008046HP:0008046Abnormal retinal vascular morphology0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0008046HP:0008046Abnormal retinal vascular morphology0STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 22
HP:0008046HP:0008046Abnormal retinal vascular morphology0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0008046HP:0008046Abnormal retinal vascular morphology0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0008046HP:0008046Abnormal retinal vascular morphology0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0008046HP:0008046Abnormal retinal vascular morphology0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0008046HP:0008046Abnormal retinal vascular morphology0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0008046HP:0008046Abnormal retinal vascular morphology0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0008046HP:0008046Abnormal retinal vascular morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0008046HP:0008046Abnormal retinal vascular morphology0TOPORS CL E G H1021021653OMIM:609923Retinitis pigmentosa 3161
HP:0008046HP:0008046Abnormal retinal vascular morphology0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040281 - Very frequent56
HP:0008046HP:0008046Abnormal retinal vascular morphology0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0008046HP:0008046Abnormal retinal vascular morphology0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0008046HP:0008046Abnormal retinal vascular morphology0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 5141
HP:0008046HP:0008046Abnormal retinal vascular morphology0TUB CL E G H727512406OMIM:616188Retinal dystrophy and obesity1
HP:0008046HP:0008046Abnormal retinal vascular morphology0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0008046HP:0008046Abnormal retinal vascular morphology0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0008046HP:0008046Abnormal retinal vascular morphology0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0008046HP:0008046Abnormal retinal vascular morphology0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0008046HP:0008046Abnormal retinal vascular morphology0USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39777
HP:0008046HP:0008046Abnormal retinal vascular morphology0USP45 CL E G H8501520080OMIM:618513LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008046HP:0008046Abnormal retinal vascular morphology0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0008046HP:0008046Abnormal retinal vascular morphology0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0008046HP:0008046Abnormal retinal vascular morphology0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0008046HP:0008046Abnormal retinal vascular morphology0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0008046HP:0008046Abnormal retinal vascular morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008046HP:0008046Abnormal retinal vascular morphology0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0008046HP:0008046Abnormal retinal vascular morphology0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008046HP:0008046Abnormal retinal vascular morphology0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0008046HP:0008046Abnormal retinal vascular morphology0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0008046HP:0008046Abnormal retinal vascular morphology0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0008046HP:0008046Abnormal retinal vascular morphology0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0008046HP:0008046Abnormal retinal vascular morphology0ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 5827
HP:0008046HP:0007986Increased retinal vascularity1 CL E G H
HP:0008046HP:0007815Abnormal distribution of retinal arterioles and venules1 CL E G H
HP:0008046HP:0032416Retinal microaneurysm1 CL E G H
HP:0008046HP:0007843Attenuation of retinal blood vessels1ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0008046HP:0007843Attenuation of retinal blood vessels1ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19.826
HP:0008046HP:0000630Abnormal retinal artery morphology1ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0008046HP:0007763Retinal telangiectasia1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0008046HP:0007843Attenuation of retinal blood vessels1AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0008046HP:0007843Attenuation of retinal blood vessels1AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4.114
HP:0008046HP:0000660Lipemia retinalis1APOC2 CL E G H344609OMIM:207750APOLIPOPROTEIN C-II DEFICIENCY27
HP:0008046HP:0007843Attenuation of retinal blood vessels1ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0008046HP:0007843Attenuation of retinal blood vessels1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0008046HP:0012841Retinal vascular tortuosity1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0008046HP:0000630Abnormal retinal artery morphology1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0008046HP:0000630Abnormal retinal artery morphology1ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0008046HP:0000630Abnormal retinal artery morphology1ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0008046HP:0007843Attenuation of retinal blood vessels1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040283 - Occasional10
HP:0008046HP:0012841Retinal vascular tortuosity1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0007763Retinal telangiectasia1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0000630Abnormal retinal artery morphology1ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0008046HP:0000630Abnormal retinal artery morphology1ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0008046HP:0007843Attenuation of retinal blood vessels1BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0008046HP:0000630Abnormal retinal artery morphology1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1BEST1 CL E G H743912703OMIM:613194Retinitis pigmentosa-50182
HP:0008046HP:0000630Abnormal retinal artery morphology1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0008046HP:0030666Retinal neovascularization1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0008046HP:0012841Retinal vascular tortuosity1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008046HP:0030666Retinal neovascularization1CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory6
HP:0008046HP:0007843Attenuation of retinal blood vessels1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0008046HP:0007797Retinal vascular malformation1CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformation37
HP:0008046HP:0001095Hypertensive retinopathy1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0008046HP:0007843Attenuation of retinal blood vessels1CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0008046HP:0012841Retinal vascular tortuosity1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0008046HP:0007843Attenuation of retinal blood vessels1CERKL CL E G H37529821699OMIM:608380Retinitis pigmentosa 2671
HP:0008046HP:0007843Attenuation of retinal blood vessels1CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0008046HP:0007843Attenuation of retinal blood vessels1CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0008046HP:0007843Attenuation of retinal blood vessels1CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0008046HP:0012841Retinal vascular tortuosity1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0008046HP:0007843Attenuation of retinal blood vessels1CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0008046HP:0007843Attenuation of retinal blood vessels1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040283 - Occasional82
HP:0008046HP:0007843Attenuation of retinal blood vessels1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040283 - Occasional194
HP:0008046HP:0007843Attenuation of retinal blood vessels1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0008046HP:0007843Attenuation of retinal blood vessels1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0008046HP:0012841Retinal vascular tortuosity1COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps193
HP:0008046HP:0000630Abnormal retinal artery morphology1COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps193
HP:0008046HP:0012841Retinal vascular tortuosity1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0008046HP:0000630Abnormal retinal artery morphology1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0008046HP:0012841Retinal vascular tortuosity1COL4A1 CL E G H12822202ORPHA:73229HANAC syndromeHP:0040281 - Very frequent193
HP:0008046HP:0012841Retinal vascular tortuosity1COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of193
HP:0008046HP:0000630Abnormal retinal artery morphology1COL4A1 CL E G H12822202OMIM:180000Retinal arteries, tortuosity of193
HP:0008046HP:0012841Retinal vascular tortuosity1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0008046HP:0000630Abnormal retinal artery morphology1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0008046HP:0007763Retinal telangiectasia1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0007763Retinal telangiectasia1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0000630Abnormal retinal artery morphology1COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1COX3 CL E G H45147422OMIM:535000Leber optic atrophy
HP:0008046HP:0007843Attenuation of retinal blood vessels1CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0008046HP:0007763Retinal telangiectasia1CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0008046HP:0007763Retinal telangiectasia1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0008046HP:0030666Retinal neovascularization1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent88
HP:0008046HP:0007685Peripheral retinal avascularization1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040281 - Very frequent88
HP:0008046HP:0000630Abnormal retinal artery morphology1CTSA CL E G H54769251ORPHA:351Galactosialidosis51
HP:0008046HP:0000630Abnormal retinal artery morphology1CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0008046HP:0012636Retinal vein occlusion1CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare101
HP:0008046HP:0000630Abnormal retinal artery morphology1CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucoma101
HP:0008046HP:0012841Retinal vascular tortuosity1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0007763Retinal telangiectasia1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0000630Abnormal retinal artery morphology1CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1CYTB CL E G H45197427OMIM:535000Leber optic atrophy
HP:0008046HP:0000630Abnormal retinal artery morphology1DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008046HP:0012841Retinal vascular tortuosity1DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0008046HP:0012841Retinal vascular tortuosity1DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0008046HP:0012841Retinal vascular tortuosity1DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0008046HP:0007685Peripheral retinal avascularization1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008046HP:0001095Hypertensive retinopathy1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0007763Retinal telangiectasia1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0007763Retinal telangiectasia1DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046HP:0012841Retinal vascular tortuosity1DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046HP:0000630Abnormal retinal artery morphology1DNAJC30 CL E G H8427716410OMIM:619382LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046HP:0012841Retinal vascular tortuosity1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008046HP:0001095Hypertensive retinopathy1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0008046HP:0000630Abnormal retinal artery morphology1EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucoma54
HP:0008046HP:0012636Retinal vein occlusion1EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare54
HP:0008046HP:0012841Retinal vascular tortuosity1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008046HP:0012841Retinal vascular tortuosity1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008046HP:0000630Abnormal retinal artery morphology1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008046HP:0012841Retinal vascular tortuosity1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008046HP:0007763Retinal telangiectasia1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0008046HP:0000630Abnormal retinal artery morphology1ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0008046HP:0001095Hypertensive retinopathy1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0008046HP:0007843Attenuation of retinal blood vessels1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0008046HP:0012841Retinal vascular tortuosity1ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0008046HP:0012841Retinal vascular tortuosity1ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0008046HP:0007843Attenuation of retinal blood vessels1EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0008046HP:0012636Retinal vein occlusion1F12 CL E G H21613530ORPHA:330Congenital factor XII deficiencyHP:0040283 - Occasional28
HP:0008046HP:0000630Abnormal retinal artery morphology1F12 CL E G H21613530ORPHA:330Congenital factor XII deficiency28
HP:0008046HP:0001095Hypertensive retinopathy1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0008046HP:0012841Retinal vascular tortuosity1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0008046HP:0007763Retinal telangiectasia1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0008046HP:0007843Attenuation of retinal blood vessels1FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0008046HP:0007685Peripheral retinal avascularization1FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0008046HP:0007763Retinal telangiectasia1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0008046HP:0030666Retinal neovascularization1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent109
HP:0008046HP:0007685Peripheral retinal avascularization1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040281 - Very frequent109
HP:0008046HP:0000630Abnormal retinal artery morphology1FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurity109
HP:0008046HP:0012841Retinal vascular tortuosity1FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurity109
HP:0008046HP:0000660Lipemia retinalis1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0008046HP:0000630Abnormal retinal artery morphology1GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0008046HP:0007763Retinal telangiectasia1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0008046HP:0007843Attenuation of retinal blood vessels1GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaHP:0040281 - Very frequent129
HP:0008046HP:0000630Abnormal retinal artery morphology1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0008046HP:0000630Abnormal retinal artery morphology1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0008046HP:0000630Abnormal retinal artery morphology1GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variant69
HP:0008046HP:0007843Attenuation of retinal blood vessels1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040283 - Occasional19
HP:0008046HP:0000630Abnormal retinal artery morphology1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0008046HP:0012841Retinal vascular tortuosity1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0008046HP:0000660Lipemia retinalis1GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type IDHP:0040283 - Occasional12
HP:0008046HP:0000630Abnormal retinal artery morphology1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008046HP:0012841Retinal vascular tortuosity1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008046HP:0000630Abnormal retinal artery morphology1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008046HP:0012841Retinal vascular tortuosity1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008046HP:0000630Abnormal retinal artery morphology1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008046HP:0012841Retinal vascular tortuosity1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008046HP:0007843Attenuation of retinal blood vessels1GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0008046HP:0007843Attenuation of retinal blood vessels1GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0008046HP:0000630Abnormal retinal artery morphology1HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0008046HP:0000630Abnormal retinal artery morphology1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0008046HP:0012841Retinal vascular tortuosity1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0008046HP:0000630Abnormal retinal artery morphology1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0008046HP:0007843Attenuation of retinal blood vessels1HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0008046HP:0007843Attenuation of retinal blood vessels1HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040282 - Frequent4
HP:0008046HP:0001095Hypertensive retinopathy1HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040283 - Occasional14
HP:0008046HP:0001095Hypertensive retinopathy1HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0008046HP:0007843Attenuation of retinal blood vessels1IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0008046HP:0007843Attenuation of retinal blood vessels1IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0008046HP:0007843Attenuation of retinal blood vessels1IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0008046HP:0007843Attenuation of retinal blood vessels1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008046HP:0012841Retinal vascular tortuosity1IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0008046HP:0007843Attenuation of retinal blood vessels1IFT172 CL E G H2616030391OMIM:616394Retinitis pigmentosa 71.48
HP:0008046HP:0000630Abnormal retinal artery morphology1IGFBP7 CL E G H34905476OMIM:614224Retinal arterial macroaneurysm with supravalvular pulmonic stenosis2
HP:0008046HP:0007850Retinal vascular proliferation1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0008046HP:0007850Retinal vascular proliferation1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0008046HP:0007843Attenuation of retinal blood vessels1IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0008046HP:0007843Attenuation of retinal blood vessels1IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0008046HP:0025188Retinal vasculitis1IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0008046HP:0000630Abnormal retinal artery morphology1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0008046HP:0012841Retinal vascular tortuosity1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0008046HP:0007843Attenuation of retinal blood vessels1KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0008046HP:0001095Hypertensive retinopathy1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0008046HP:0001095Hypertensive retinopathy1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0008046HP:0007797Retinal vascular malformation1KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 1.92
HP:0008046HP:0007797Retinal vascular malformation1KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformation92
HP:0008046HP:0012841Retinal vascular tortuosity1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008046HP:0007843Attenuation of retinal blood vessels1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0008046HP:0000630Abnormal retinal artery morphology1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008046HP:0012636Retinal vein occlusion1LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0008046HP:0000660Lipemia retinalis1LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0008046HP:0007843Attenuation of retinal blood vessels1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0008046HP:0007685Peripheral retinal avascularization1LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0008046HP:0007685Peripheral retinal avascularization1LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0008046HP:0007763Retinal telangiectasia1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0008046HP:0007685Peripheral retinal avascularization1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040281 - Very frequent125
HP:0008046HP:0030666Retinal neovascularization1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent125
HP:0008046HP:0012841Retinal vascular tortuosity1LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurity125
HP:0008046HP:0000630Abnormal retinal artery morphology1LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurity125
HP:0008046HP:0030666Retinal neovascularization1LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008046HP:0007843Attenuation of retinal blood vessels1MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0008046HP:0001095Hypertensive retinopathy1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0008046HP:0001095Hypertensive retinopathy1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0008046HP:0001095Hypertensive retinopathy1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0008046HP:0007685Peripheral retinal avascularization1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008046HP:0012841Retinal vascular tortuosity1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008046HP:0000630Abnormal retinal artery morphology1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008046HP:0007843Attenuation of retinal blood vessels1MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0008046HP:0000630Abnormal retinal artery morphology1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008046HP:0012841Retinal vascular tortuosity1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008046HP:0000630Abnormal retinal artery morphology1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008046HP:0012841Retinal vascular tortuosity1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008046HP:0007843Attenuation of retinal blood vessels1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0008046HP:0012636Retinal vein occlusion1MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040284 - Very rare47
HP:0008046HP:0000630Abnormal retinal artery morphology1MYOC CL E G H46537610ORPHA:98977Juvenile glaucoma47
HP:0008046HP:0012841Retinal vascular tortuosity1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008046HP:0000630Abnormal retinal artery morphology1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008046HP:0007763Retinal telangiectasia1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0008046HP:0000630Abnormal retinal artery morphology1ND1 CL E G H45357455OMIM:535000Leber optic atrophy
HP:0008046HP:0007763Retinal telangiectasia1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0008046HP:0000630Abnormal retinal artery morphology1ND2 CL E G H45367456OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0007763Retinal telangiectasia1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0000630Abnormal retinal artery morphology1ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1ND4 CL E G H45387459OMIM:535000Leber optic atrophy
HP:0008046HP:0007763Retinal telangiectasia1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0000630Abnormal retinal artery morphology1ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1ND4L CL E G H45397460OMIM:535000Leber optic atrophy
HP:0008046HP:0007763Retinal telangiectasia1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0000630Abnormal retinal artery morphology1ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1ND5 CL E G H45407461OMIM:535000Leber optic atrophy
HP:0008046HP:0007763Retinal telangiectasia1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0012841Retinal vascular tortuosity1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0008046HP:0000630Abnormal retinal artery morphology1ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0008046HP:0012841Retinal vascular tortuosity1ND6 CL E G H45417462OMIM:535000Leber optic atrophy
HP:0008046HP:0030666Retinal neovascularization1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linkedHP:0040283 - Occasional39
HP:0008046HP:0007685Peripheral retinal avascularization1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0008046HP:0012841Retinal vascular tortuosity1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linkedHP:0040283 - Occasional39
HP:0008046HP:0007685Peripheral retinal avascularization1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040281 - Very frequent39
HP:0008046HP:0007763Retinal telangiectasia1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0008046HP:0030666Retinal neovascularization1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0008046HP:0012841Retinal vascular tortuosity1NDP CL E G H46937678ORPHA:90050Retinopathy of prematurity39
HP:0008046HP:0000630Abnormal retinal artery morphology1NDP CL E G H46937678ORPHA:90050Retinopathy of prematurity39
HP:0008046HP:0007763Retinal telangiectasia1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent65
HP:0008046HP:0012841Retinal vascular tortuosity1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent65
HP:0008046HP:0012841Retinal vascular tortuosity1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0008046HP:0000630Abnormal retinal artery morphology1NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2101
HP:0008046HP:0000630Abnormal retinal artery morphology1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0008046HP:0000630Abnormal retinal artery morphology1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0008046HP:0000630Abnormal retinal artery morphology1NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency43
HP:0008046HP:0000630Abnormal retinal artery morphology1NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0008046HP:0007850Retinal vascular proliferation1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0008046HP:0001095Hypertensive retinopathy1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0008046HP:0007843Attenuation of retinal blood vessels1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 9.15
HP:0008046HP:0007843Attenuation of retinal blood vessels1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0008046HP:0007843Attenuation of retinal blood vessels1OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0008046HP:0012841Retinal vascular tortuosity1PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008046HP:0007843Attenuation of retinal blood vessels1PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54.
HP:0008046HP:0007763Retinal telangiectasia1PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040282 - Frequent1
HP:0008046HP:0007797Retinal vascular malformation1PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformation21
HP:0008046HP:0007843Attenuation of retinal blood vessels1PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0008046HP:0007843Attenuation of retinal blood vessels1PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0008046HP:0007843Attenuation of retinal blood vessels1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040283 - Occasional80
HP:0008046HP:0007843Attenuation of retinal blood vessels1PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 57.18
HP:0008046HP:0007843Attenuation of retinal blood vessels1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040283 - Occasional14
HP:0008046HP:0007843Attenuation of retinal blood vessels1PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 36.39
HP:0008046HP:0007843Attenuation of retinal blood vessels1PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0008046HP:0000630Abnormal retinal artery morphology1PRPF3 CL E G H912917348OMIM:601414Retinitis pigmentosa 1828
HP:0008046HP:0007843Attenuation of retinal blood vessels1PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0008046HP:0007843Attenuation of retinal blood vessels1PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0008046HP:0007843Attenuation of retinal blood vessels1PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent159
HP:0008046HP:0000630Abnormal retinal artery morphology1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0008046HP:0007843Attenuation of retinal blood vessels1RAX2 CL E G H8483918286OMIM:62010252
HP:0008046HP:0007843Attenuation of retinal blood vessels1RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 1345
HP:0008046HP:0007843Attenuation of retinal blood vessels1RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent32
HP:0008046HP:0001095Hypertensive retinopathy1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0008046HP:0001095Hypertensive retinopathy1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0008046HP:0001095Hypertensive retinopathy1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0008046HP:0000630Abnormal retinal artery morphology1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1RGR CL E G H59959990OMIM:613769RETINITIS PIGMENTOSA 44; RP4428
HP:0008046HP:0007843Attenuation of retinal blood vessels1RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4107
HP:0008046HP:0007843Attenuation of retinal blood vessels1RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent107
HP:0008046HP:0007843Attenuation of retinal blood vessels1RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent47
HP:0008046HP:0007843Attenuation of retinal blood vessels1ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0008046HP:0007843Attenuation of retinal blood vessels1RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0008046HP:0007843Attenuation of retinal blood vessels1RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0008046HP:0007843Attenuation of retinal blood vessels1RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0008046HP:0007843Attenuation of retinal blood vessels1RPE65 CL E G H612110294OMIM:613794Retinitis pigmentosa 20.129
HP:0008046HP:0007843Attenuation of retinal blood vessels1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0008046HP:0007843Attenuation of retinal blood vessels1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040283 - Occasional200
HP:0008046HP:0007843Attenuation of retinal blood vessels1RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0008046HP:0012841Retinal vascular tortuosity1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0007685Peripheral retinal avascularization1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0008046HP:0007843Attenuation of retinal blood vessels1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0008046HP:0007843Attenuation of retinal blood vessels1SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0008046HP:0001095Hypertensive retinopathy1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0008046HP:0001095Hypertensive retinopathy1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0008046HP:0001095Hypertensive retinopathy1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0008046HP:0001095Hypertensive retinopathy1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0008046HP:0001095Hypertensive retinopathy1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0008046HP:0001095Hypertensive retinopathy1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0008046HP:0001095Hypertensive retinopathy1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0008046HP:0001095Hypertensive retinopathy1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0008046HP:0001095Hypertensive retinopathy1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0008046HP:0000630Abnormal retinal artery morphology1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008046HP:0012841Retinal vascular tortuosity1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008046HP:0012841Retinal vascular tortuosity1SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0008046HP:0007843Attenuation of retinal blood vessels1SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 1048
HP:0008046HP:0012636Retinal vein occlusion1SERPINC1 CL E G H462775ORPHA:82Hereditary thrombophilia due to congenital antithrombin deficiencyHP:0040283 - Occasional88
HP:0008046HP:0001095Hypertensive retinopathy1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0008046HP:0000660Lipemia retinalis1SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0008046HP:0007843Attenuation of retinal blood vessels1SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008046HP:0007763Retinal telangiectasia1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0008046HP:0000630Abnormal retinal artery morphology1SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0008046HP:0000630Abnormal retinal artery morphology1SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0008046HP:0007843Attenuation of retinal blood vessels1SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0008046HP:0007843Attenuation of retinal blood vessels1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0008046HP:0007763Retinal telangiectasia1STN1 CL E G H7999126200OMIM:617341Cerebroretinal microangiopathy with calcifications and cysts 2.2
HP:0008046HP:0012841Retinal vascular tortuosity1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008046HP:0012841Retinal vascular tortuosity1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0008046HP:0000630Abnormal retinal artery morphology1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0008046HP:0012841Retinal vascular tortuosity1TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome.32
HP:0008046HP:0007843Attenuation of retinal blood vessels1TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0008046HP:0001095Hypertensive retinopathy1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0008046HP:0001095Hypertensive retinopathy1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0008046HP:0000630Abnormal retinal artery morphology1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0008046HP:0012841Retinal vascular tortuosity1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1TOPORS CL E G H1021021653OMIM:609923Retinitis pigmentosa 3161
HP:0008046HP:0030666Retinal neovascularization1TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0008046HP:0007763Retinal telangiectasia1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0008046HP:0030666Retinal neovascularization1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0008046HP:0007685Peripheral retinal avascularization1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040281 - Very frequent39
HP:0008046HP:0007843Attenuation of retinal blood vessels1TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 51.41
HP:0008046HP:0007843Attenuation of retinal blood vessels1TUB CL E G H727512406OMIM:616188Retinal dystrophy and obesity1
HP:0008046HP:0000630Abnormal retinal artery morphology1TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0008046HP:0012841Retinal vascular tortuosity1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39.777
HP:0008046HP:0007843Attenuation of retinal blood vessels1USP45 CL E G H8501520080OMIM:618513LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008046HP:0001095Hypertensive retinopathy1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0008046HP:0001095Hypertensive retinopathy1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0008046HP:0001095Hypertensive retinopathy1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0008046HP:0001095Hypertensive retinopathy1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0008046HP:0012841Retinal vascular tortuosity1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008046HP:0000630Abnormal retinal artery morphology1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008046HP:0007843Attenuation of retinal blood vessels1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0008046HP:0012841Retinal vascular tortuosity1WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008046HP:0007685Peripheral retinal avascularization1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040281 - Very frequent14
HP:0008046HP:0007763Retinal telangiectasia1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0008046HP:0030666Retinal neovascularization1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent14
HP:0008046HP:0007843Attenuation of retinal blood vessels1ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0008046HP:0007843Attenuation of retinal blood vessels1ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 58.27
HP:0008046HP:0030494Macular microaneurysm/hemorrhage2 CL E G H
HP:0008046HP:0008030Retinal arteritis2 CL E G H
HP:0008046HP:0020167Hemiretinal vein occlusion2 CL E G H
HP:0008046HP:0008014Central fundal arteriolar microaneurysms2 CL E G H
HP:0008046HP:0020166Central retinal vein occlusion2 CL E G H
HP:0008046HP:0020165Branch retinal vein occlusion2 CL E G H
HP:0008046HP:0001136Retinal arteriolar tortuosity2ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0008046HP:0010729Cherry red spot of the macula2ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0008046HP:0010729Cherry red spot of the macula2ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0008046HP:0000631Retinal arterial tortuosity2ATP6 CL E G H45087414OMIM:535000Leber optic atrophy
HP:0008046HP:0001136Retinal arteriolar tortuosity2ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0008046HP:0001136Retinal arteriolar tortuosity2BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008046HP:0001136Retinal arteriolar tortuosity2BCL7B CL