Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Abnormal visual electrophysiology (HP:0030453)help
Term ID: 30453
Name: Abnormal visual electrophysiology
Synonym:
Definition:
Comments:
Reference: HP:0030453
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal electroretinogram (HP:0000512) help
................... HP:0000550 Undetectable electroretinogram
................... HP:0030466 Abnormal full-field electroretinogram
................... HP:0030467 Abnormal pattern electroretinogram
................... HP:0030468 Abnormal multifocal electroretinogram
........expandAbnormality of visual evoked potentials (HP:0000649) help
................... HP:0007928 Abnormal flash visual evoked potentials
................... HP:0007965 Undetectable visual evoked potentials
................... HP:0030455 Abnormality of pattern visual evoked potentials
........expandAbnormal electrooculogram (HP:0030454) help
................... HP:0008179 Decreased Arden ratio of electrooculogram
................... HP:0031155 Increased Arden ratio of electrooculogram

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) 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:0030453HP:0030453Abnormal visual electrophysiology0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0030453HP:0030453Abnormal visual electrophysiology0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030453HP:0030453Abnormal visual electrophysiology0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosa826
HP:0030453HP:0030453Abnormal visual electrophysiology0ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0030453HP:0030453Abnormal visual electrophysiology0ABCA4 CL E G H2434ORPHA:827Stargardt disease826
HP:0030453HP:0030453Abnormal visual electrophysiology0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiency120
HP:0030453HP:0030453Abnormal visual electrophysiology0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0030453HP:0030453Abnormal visual electrophysiology0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0030453HP:0030453Abnormal visual electrophysiology0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2530
HP:0030453HP:0030453Abnormal visual electrophysiology0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosa2
HP:0030453HP:0030453Abnormal visual electrophysiology0AGK CL E G H5575021869ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome82
HP:0030453HP:0030453Abnormal visual electrophysiology0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0030453HP:0030453Abnormal visual electrophysiology0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosa175
HP:0030453HP:0030453Abnormal visual electrophysiology0AHR CL E G H196348ORPHA:791Retinitis pigmentosa2
HP:0030453HP:0030453Abnormal visual electrophysiology0AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosis114
HP:0030453HP:0030453Abnormal visual electrophysiology0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4114
HP:0030453HP:0030453Abnormal visual electrophysiology0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0030453HP:0030453Abnormal visual electrophysiology0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosa6
HP:0030453HP:0030453Abnormal visual electrophysiology0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0030453HP:0030453Abnormal visual electrophysiology0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosa3
HP:0030453HP:0030453Abnormal visual electrophysiology0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosa1
HP:0030453HP:0030453Abnormal visual electrophysiology0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0030453HP:0030453Abnormal visual electrophysiology0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosa29
HP:0030453HP:0030453Abnormal visual electrophysiology0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0030453HP:0030453Abnormal visual electrophysiology0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0030453HP:0030453Abnormal visual electrophysiology0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0030453HP:0030453Abnormal visual electrophysiology0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3
HP:0030453HP:0030453Abnormal visual electrophysiology0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0030453HP:0030453Abnormal visual electrophysiology0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0030453HP:0030453Abnormal visual electrophysiology0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0030453HP:0030453Abnormal visual electrophysiology0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0030453HP:0030453Abnormal visual electrophysiology0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0030453HP:0030453Abnormal visual electrophysiology0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosa114
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosa97
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0030453HP:0030453Abnormal visual electrophysiology0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0030453HP:0030453Abnormal visual electrophysiology0BEST1 CL E G H743912703OMIM:611809BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB182
HP:0030453HP:0030453Abnormal visual electrophysiology0BEST1 CL E G H743912703OMIM:153700Macular dystrophy, vitelliform, 2182
HP:0030453HP:0030453Abnormal visual electrophysiology0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosa182
HP:0030453HP:0030453Abnormal visual electrophysiology0BEST1 CL E G H743912703OMIM:613194Retinitis pigmentosa-50182
HP:0030453HP:0030453Abnormal visual electrophysiology0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosa23
HP:0030453HP:0030453Abnormal visual electrophysiology0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030453HP:0030453Abnormal visual electrophysiology0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindness94
HP:0030453HP:0030453Abnormal visual electrophysiology0CACNA1F CL E G H7781393ORPHA:178333Åland Islands eye disease58
HP:0030453HP:0030453Abnormal visual electrophysiology0CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 358
HP:0030453HP:0030453Abnormal visual electrophysiology0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindness58
HP:0030453HP:0030453Abnormal visual electrophysiology0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030453HP:0030453Abnormal visual electrophysiology0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindness129
HP:0030453HP:0030453Abnormal visual electrophysiology0CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030453HP:0030453Abnormal visual electrophysiology0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory6
HP:0030453HP:0030453Abnormal visual electrophysiology0CC2D2A CL E G H5754529253OMIM:619845RETINITIS PIGMENTOSA 93; RP93247
HP:0030453HP:0030453Abnormal visual electrophysiology0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1636
HP:0030453HP:0030453Abnormal visual electrophysiology0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosa147
HP:0030453HP:0030453Abnormal visual electrophysiology0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0030453HP:0030453Abnormal visual electrophysiology0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0030453HP:0030453Abnormal visual electrophysiology0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0030453HP:0030453Abnormal visual electrophysiology0CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosis342
HP:0030453HP:0030453Abnormal visual electrophysiology0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 39
HP:0030453HP:0030453Abnormal visual electrophysiology0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosa71
HP:0030453HP:0030453Abnormal visual electrophysiology0CERKL CL E G H37529821699OMIM:608380Retinitis pigmentosa 2671
HP:0030453HP:0030453Abnormal visual electrophysiology0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0030453HP:0030453Abnormal visual electrophysiology0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030453HP:0030453Abnormal visual electrophysiology0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosa
HP:0030453HP:0030453Abnormal visual electrophysiology0CHM CL E G H11211940ORPHA:180Choroideremia47
HP:0030453HP:0030453Abnormal visual electrophysiology0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 115
HP:0030453HP:0030453Abnormal visual electrophysiology0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0030453HP:0030453Abnormal visual electrophysiology0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosis102
HP:0030453HP:0030453Abnormal visual electrophysiology0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3216
HP:0030453HP:0030453Abnormal visual electrophysiology0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0030453HP:0030453Abnormal visual electrophysiology0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0030453HP:0030453Abnormal visual electrophysiology0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0030453HP:0030453Abnormal visual electrophysiology0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosa60
HP:0030453HP:0030453Abnormal visual electrophysiology0CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0030453HP:0030453Abnormal visual electrophysiology0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 360
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosa44
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosa164
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45164
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGB3 CL E G H547142153ORPHA:1871Progressive cone dystrophy194
HP:0030453HP:0030453Abnormal visual electrophysiology0CNGB3 CL E G H547142153ORPHA:827Stargardt disease194
HP:0030453HP:0030453Abnormal visual electrophysiology0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0030453HP:0030453Abnormal visual electrophysiology0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0030453HP:0030453Abnormal visual electrophysiology0CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosis156
HP:0030453HP:0030453Abnormal visual electrophysiology0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0030453HP:0030453Abnormal visual electrophysiology0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosa156
HP:0030453HP:0030453Abnormal visual electrophysiology0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0030453HP:0030453Abnormal visual electrophysiology0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0030453HP:0030453Abnormal visual electrophysiology0CRX CL E G H14062383ORPHA:65Leber congenital amaurosis158
HP:0030453HP:0030453Abnormal visual electrophysiology0CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7158
HP:0030453HP:0030453Abnormal visual electrophysiology0CRX CL E G H14062383ORPHA:791Retinitis pigmentosa158
HP:0030453HP:0030453Abnormal visual electrophysiology0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0030453HP:0030453Abnormal visual electrophysiology0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0030453HP:0030453Abnormal visual electrophysiology0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophy126
HP:0030453HP:0030453Abnormal visual electrophysiology0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosa47
HP:0030453HP:0030453Abnormal visual electrophysiology0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosa1
HP:0030453HP:0030453Abnormal visual electrophysiology0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation62
HP:0030453HP:0030453Abnormal visual electrophysiology0ELOVL4 CL E G H678514415ORPHA:827Stargardt disease62
HP:0030453HP:0030453Abnormal visual electrophysiology0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0030453HP:0030453Abnormal visual electrophysiology0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0030453HP:0030453Abnormal visual electrophysiology0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0030453HP:0030453Abnormal visual electrophysiology0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0030453HP:0030453Abnormal visual electrophysiology0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 133
HP:0030453HP:0030453Abnormal visual electrophysiology0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosa209
HP:0030453HP:0030453Abnormal visual electrophysiology0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0030453HP:0030453Abnormal visual electrophysiology0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosa56
HP:0030453HP:0030453Abnormal visual electrophysiology0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0030453HP:0030453Abnormal visual electrophysiology0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosa26
HP:0030453HP:0030453Abnormal visual electrophysiology0FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0030453HP:0030453Abnormal visual electrophysiology0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0030453HP:0030453Abnormal visual electrophysiology0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0030453HP:0030453Abnormal visual electrophysiology0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0030453HP:0030453Abnormal visual electrophysiology0GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosis64
HP:0030453HP:0030453Abnormal visual electrophysiology0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 4437
HP:0030453HP:0030453Abnormal visual electrophysiology0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindness39
HP:0030453HP:0030453Abnormal visual electrophysiology0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0030453HP:0030453Abnormal visual electrophysiology0GNAT2 CL E G H27804394ORPHA:1871Progressive cone dystrophy19
HP:0030453HP:0030453Abnormal visual electrophysiology0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindness5
HP:0030453HP:0030453Abnormal visual electrophysiology0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndrome7
HP:0030453HP:0030453Abnormal visual electrophysiology0GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia7
HP:0030453HP:0030453Abnormal visual electrophysiology0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindness124
HP:0030453HP:0030453Abnormal visual electrophysiology0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindness4
HP:0030453HP:0030453Abnormal visual electrophysiology0GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0030453HP:0030453Abnormal visual electrophysiology0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindness63
HP:0030453HP:0030453Abnormal visual electrophysiology0GUCA1A CL E G H29784678ORPHA:1871Progressive cone dystrophy24
HP:0030453HP:0030453Abnormal visual electrophysiology0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosa36
HP:0030453HP:0030453Abnormal visual electrophysiology0GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosis124
HP:0030453HP:0030453Abnormal visual electrophysiology0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0030453HP:0030453Abnormal visual electrophysiology0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency99
HP:0030453HP:0030453Abnormal visual electrophysiology0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3
HP:0030453HP:0030453Abnormal visual electrophysiology0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosa86
HP:0030453HP:0030453Abnormal visual electrophysiology0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0030453HP:0030453Abnormal visual electrophysiology0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosa
HP:0030453HP:0030453Abnormal visual electrophysiology0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosa30
HP:0030453HP:0030453Abnormal visual electrophysiology0IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0030453HP:0030453Abnormal visual electrophysiology0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0030453HP:0030453Abnormal visual electrophysiology0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosis148
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosa148
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosa48
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0030453HP:0030453Abnormal visual electrophysiology0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosa3
HP:0030453HP:0030453Abnormal visual electrophysiology0IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosis52
HP:0030453HP:0030453Abnormal visual electrophysiology0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosa52
HP:0030453HP:0030453Abnormal visual electrophysiology0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0030453HP:0030453Abnormal visual electrophysiology0IMPG1 CL E G H36176055OMIM:616151Macular dystrophy, vitelliform, 44
HP:0030453HP:0030453Abnormal visual electrophysiology0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosa4
HP:0030453HP:0030453Abnormal visual electrophysiology0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosa120
HP:0030453HP:0030453Abnormal visual electrophysiology0IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosis61
HP:0030453HP:0030453Abnormal visual electrophysiology0KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosis42
HP:0030453HP:0030453Abnormal visual electrophysiology0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosa
HP:0030453HP:0030453Abnormal visual electrophysiology0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0030453HP:0030453Abnormal visual electrophysiology0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosa3
HP:0030453HP:0030453Abnormal visual electrophysiology0KIZ CL E G H5585715865OMIM:615780Retinitis pigmentosa 693
HP:0030453HP:0030453Abnormal visual electrophysiology0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosa42
HP:0030453HP:0030453Abnormal visual electrophysiology0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0030453HP:0030453Abnormal visual electrophysiology0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0030453HP:0030453Abnormal visual electrophysiology0LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosis70
HP:0030453HP:0030453Abnormal visual electrophysiology0LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 570
HP:0030453HP:0030453Abnormal visual electrophysiology0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0030453HP:0030453Abnormal visual electrophysiology0LRAT CL E G H92276685ORPHA:65Leber congenital amaurosis62
HP:0030453HP:0030453Abnormal visual electrophysiology0LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 1462
HP:0030453HP:0030453Abnormal visual electrophysiology0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosa62
HP:0030453HP:0030453Abnormal visual electrophysiology0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0030453HP:0030453Abnormal visual electrophysiology0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindness54
HP:0030453HP:0030453Abnormal visual electrophysiology0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0030453HP:0030453Abnormal visual electrophysiology0MAK CL E G H41176816ORPHA:791Retinitis pigmentosa53
HP:0030453HP:0030453Abnormal visual electrophysiology0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0030453HP:0030453Abnormal visual electrophysiology0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0030453HP:0030453Abnormal visual electrophysiology0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0030453HP:0030453Abnormal visual electrophysiology0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosa75
HP:0030453HP:0030453Abnormal visual electrophysiology0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0030453HP:0030453Abnormal visual electrophysiology0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0030453HP:0030453Abnormal visual electrophysiology0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0030453HP:0030453Abnormal visual electrophysiology0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0030453HP:0030453Abnormal visual electrophysiology0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0030453HP:0030453Abnormal visual electrophysiology0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0030453HP:0030453Abnormal visual electrophysiology0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0030453HP:0030453Abnormal visual electrophysiology0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1516
HP:0030453HP:0030453Abnormal visual electrophysiology0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2516
HP:0030453HP:0030453Abnormal visual electrophysiology0MYO7A CL E G H46477606OMIM:276900Usher syndrome, type I516
HP:0030453HP:0030453Abnormal visual electrophysiology0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0030453HP:0030453Abnormal visual electrophysiology0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0030453HP:0030453Abnormal visual electrophysiology0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosa5
HP:0030453HP:0030453Abnormal visual electrophysiology0NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosis15
HP:0030453HP:0030453Abnormal visual electrophysiology0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0030453HP:0030453Abnormal visual electrophysiology0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0030453HP:0030453Abnormal visual electrophysiology0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0030453HP:0030453Abnormal visual electrophysiology0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0030453HP:0030453Abnormal visual electrophysiology0NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome58
HP:0030453HP:0030453Abnormal visual electrophysiology0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosa58
HP:0030453HP:0030453Abnormal visual electrophysiology0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0030453HP:0030453Abnormal visual electrophysiology0NRL CL E G H49018002ORPHA:791Retinitis pigmentosa30
HP:0030453HP:0030453Abnormal visual electrophysiology0NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 2730
HP:0030453HP:0030453Abnormal visual electrophysiology0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0030453HP:0030453Abnormal visual electrophysiology0NYX CL E G H605068082ORPHA:215Congenital stationary night blindness42
HP:0030453HP:0030453Abnormal visual electrophysiology0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosa201
HP:0030453HP:0030453Abnormal visual electrophysiology0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0030453HP:0030453Abnormal visual electrophysiology0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0030453HP:0030453Abnormal visual electrophysiology0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0030453HP:0030453Abnormal visual electrophysiology0OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatism7
HP:0030453HP:0030453Abnormal visual electrophysiology0OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatism5
HP:0030453HP:0030453Abnormal visual electrophysiology0OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0030453HP:0030453Abnormal visual electrophysiology0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0030453HP:0030453Abnormal visual electrophysiology0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosa
HP:0030453HP:0030453Abnormal visual electrophysiology0PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54
HP:0030453HP:0030453Abnormal visual electrophysiology0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1352
HP:0030453HP:0030453Abnormal visual electrophysiology0PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosis11
HP:0030453HP:0030453Abnormal visual electrophysiology0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosa116
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindness126
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosa126
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6C CL E G H51468787ORPHA:1871Progressive cone dystrophy80
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosa18
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0030453HP:0030453Abnormal visual electrophysiology0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A14
HP:0030453HP:0030453Abnormal visual electrophysiology0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0030453HP:0030453Abnormal visual electrophysiology0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 240
HP:0030453HP:0030453Abnormal visual electrophysiology0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0030453HP:0030453Abnormal visual electrophysiology0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B65
HP:0030453HP:0030453Abnormal visual electrophysiology0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 577
HP:0030453HP:0030453Abnormal visual electrophysiology0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome77
HP:0030453HP:0030453Abnormal visual electrophysiology0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0030453HP:0030453Abnormal visual electrophysiology0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0030453HP:0030453Abnormal visual electrophysiology0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndrome103
HP:0030453HP:0030453Abnormal visual electrophysiology0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0030453HP:0030453Abnormal visual electrophysiology0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0030453HP:0030453Abnormal visual electrophysiology0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0030453HP:0030453Abnormal visual electrophysiology0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosa180
HP:0030453HP:0030453Abnormal visual electrophysiology0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1172
HP:0030453HP:0030453Abnormal visual electrophysiology0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosa39
HP:0030453HP:0030453Abnormal visual electrophysiology0PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0030453HP:0030453Abnormal visual electrophysiology0PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0030453HP:0030453Abnormal visual electrophysiology0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosa110
HP:0030453HP:0030453Abnormal visual electrophysiology0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0030453HP:0030453Abnormal visual electrophysiology0PROM1 CL E G H88429454ORPHA:827Stargardt disease110
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosa28
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosa70
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosa2
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosa51
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosa94
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosa159
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescens159
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPH2 CL E G H59619942ORPHA:827Stargardt disease159
HP:0030453HP:0030453Abnormal visual electrophysiology0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0030453HP:0030453Abnormal visual electrophysiology0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0030453HP:0030453Abnormal visual electrophysiology0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0030453HP:0030453Abnormal visual electrophysiology0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0030453HP:0030453Abnormal visual electrophysiology0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0030453HP:0030453Abnormal visual electrophysiology0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0030453HP:0030453Abnormal visual electrophysiology0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0030453HP:0030453Abnormal visual electrophysiology0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0030453HP:0030453Abnormal visual electrophysiology0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0030453HP:0030453Abnormal visual electrophysiology0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosa108
HP:0030453HP:0030453Abnormal visual electrophysiology0RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosis95
HP:0030453HP:0030453Abnormal visual electrophysiology0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome2
HP:0030453HP:0030453Abnormal visual electrophysiology0RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosis45
HP:0030453HP:0030453Abnormal visual electrophysiology0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosa45
HP:0030453HP:0030453Abnormal visual electrophysiology0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescens32
HP:0030453HP:0030453Abnormal visual electrophysiology0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosa5
HP:0030453HP:0030453Abnormal visual electrophysiology0RGR CL E G H59959990ORPHA:791Retinitis pigmentosa28
HP:0030453HP:0030453Abnormal visual electrophysiology0RGR CL E G H59959990OMIM:613769RETINITIS PIGMENTOSA 44; RP4428
HP:0030453HP:0030453Abnormal visual electrophysiology0RHO CL E G H601010012ORPHA:215Congenital stationary night blindness107
HP:0030453HP:0030453Abnormal visual electrophysiology0RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0030453HP:0030453Abnormal visual electrophysiology0RHO CL E G H601010012ORPHA:791Retinitis pigmentosa107
HP:0030453HP:0030453Abnormal visual electrophysiology0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4107
HP:0030453HP:0030453Abnormal visual electrophysiology0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescens107
HP:0030453HP:0030453Abnormal visual electrophysiology0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0030453HP:0030453Abnormal visual electrophysiology0RLBP1 CL E G H601710024OMIM:607475Bothnia retinal dystrophy47
HP:0030453HP:0030453Abnormal visual electrophysiology0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosa47
HP:0030453HP:0030453Abnormal visual electrophysiology0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescens47
HP:0030453HP:0030453Abnormal visual electrophysiology0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndrome10
HP:0030453HP:0030453Abnormal visual electrophysiology0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosa38
HP:0030453HP:0030453Abnormal visual electrophysiology0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0030453HP:0030453Abnormal visual electrophysiology0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosa111
HP:0030453HP:0030453Abnormal visual electrophysiology0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0030453HP:0030453Abnormal visual electrophysiology0RP1L1 CL E G H9413715946OMIM:613587OCCULT MACULAR DYSTROPHY; OCMD284
HP:0030453HP:0030453Abnormal visual electrophysiology0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosa284
HP:0030453HP:0030453Abnormal visual electrophysiology0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosa45
HP:0030453HP:0030453Abnormal visual electrophysiology0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosa14
HP:0030453HP:0030453Abnormal visual electrophysiology0RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 914
HP:0030453HP:0030453Abnormal visual electrophysiology0RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosis129
HP:0030453HP:0030453Abnormal visual electrophysiology0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0030453HP:0030453Abnormal visual electrophysiology0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosa129
HP:0030453HP:0030453Abnormal visual electrophysiology0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0030453HP:0030453Abnormal visual electrophysiology0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0030453HP:0030453Abnormal visual electrophysiology0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosa200
HP:0030453HP:0030453Abnormal visual electrophysiology0RPGRIP1 CL E G H5709613436OMIM:608194CONE-ROD DYSTROPHY 13; CORD13109
HP:0030453HP:0030453Abnormal visual electrophysiology0RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosis109
HP:0030453HP:0030453Abnormal visual electrophysiology0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6109
HP:0030453HP:0030453Abnormal visual electrophysiology0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030453HP:0030453Abnormal visual electrophysiology0RS1 CL E G H624710457ORPHA:792X-linked retinoschisis148
HP:0030453HP:0030453Abnormal visual electrophysiology0SAG CL E G H629510521ORPHA:215Congenital stationary night blindness32
HP:0030453HP:0030453Abnormal visual electrophysiology0SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0030453HP:0030453Abnormal visual electrophysiology0SAG CL E G H629510521ORPHA:791Retinitis pigmentosa32
HP:0030453HP:0030453Abnormal visual electrophysiology0SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0030453HP:0030453Abnormal visual electrophysiology0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0030453HP:0030453Abnormal visual electrophysiology0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0030453HP:0030453Abnormal visual electrophysiology0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosa
HP:0030453HP:0030453Abnormal visual electrophysiology0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0030453HP:0030453Abnormal visual electrophysiology0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosa48
HP:0030453HP:0030453Abnormal visual electrophysiology0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindness66
HP:0030453HP:0030453Abnormal visual electrophysiology0SLC25A22 CL E G H7975119954OMIM:609304Epileptic encephalopathy, early infantile, 3166
HP:0030453HP:0030453Abnormal visual electrophysiology0SLC25A4 CL E G H29110990ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome68
HP:0030453HP:0030453Abnormal visual electrophysiology0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosa4
HP:0030453HP:0030453Abnormal visual electrophysiology0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosa83
HP:0030453HP:0030453Abnormal visual electrophysiology0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosis2
HP:0030453HP:0030453Abnormal visual electrophysiology0SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosis48
HP:0030453HP:0030453Abnormal visual electrophysiology0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosa48
HP:0030453HP:0030453Abnormal visual electrophysiology0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0030453HP:0030453Abnormal visual electrophysiology0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0030453HP:0030453Abnormal visual electrophysiology0SSBP1 CL E G H674211317OMIM:165510Optic atrophy with negative electroretinograms
HP:0030453HP:0030453Abnormal visual electrophysiology0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0030453HP:0030453Abnormal visual electrophysiology0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0030453HP:0030453Abnormal visual electrophysiology0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosis82
HP:0030453HP:0030453Abnormal visual electrophysiology0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0030453HP:0030453Abnormal visual electrophysiology0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0030453HP:0030453Abnormal visual electrophysiology0TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy95
HP:0030453HP:0030453Abnormal visual electrophysiology0TKFC CL E G H2600724552ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0030453HP:0030453Abnormal visual electrophysiology0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0030453HP:0030453Abnormal visual electrophysiology0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosis44
HP:0030453HP:0030453Abnormal visual electrophysiology0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosa61
HP:0030453HP:0030453Abnormal visual electrophysiology0TOPORS CL E G H1021021653OMIM:609923Retinitis pigmentosa 3161
HP:0030453HP:0030453Abnormal visual electrophysiology0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2203
HP:0030453HP:0030453Abnormal visual electrophysiology0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0030453HP:0030453Abnormal visual electrophysiology0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3
HP:0030453HP:0030453Abnormal visual electrophysiology0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindness104
HP:0030453HP:0030453Abnormal visual electrophysiology0TRPM1 CL E G H43087146OMIM:613216NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C104
HP:0030453HP:0030453Abnormal visual electrophysiology0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0030453HP:0030453Abnormal visual electrophysiology0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosa41
HP:0030453HP:0030453Abnormal visual electrophysiology0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 5141
HP:0030453HP:0030453Abnormal visual electrophysiology0TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 199
HP:0030453HP:0030453Abnormal visual electrophysiology0TTPA CL E G H727412404ORPHA:96Ataxia with vitamin E deficiency62
HP:0030453HP:0030453Abnormal visual electrophysiology0TUB CL E G H727512406ORPHA:791Retinitis pigmentosa1
HP:0030453HP:0030453Abnormal visual electrophysiology0TUBB4B CL E G H1038320771ORPHA:65Leber congenital amaurosis
HP:0030453HP:0030453Abnormal visual electrophysiology0TULP1 CL E G H728712423ORPHA:65Leber congenital amaurosis66
HP:0030453HP:0030453Abnormal visual electrophysiology0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosa66
HP:0030453HP:0030453Abnormal visual electrophysiology0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0030453HP:0030453Abnormal visual electrophysiology0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0030453HP:0030453Abnormal visual electrophysiology0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1173
HP:0030453HP:0030453Abnormal visual electrophysiology0USH1C CL E G H1008312597OMIM:276900Usher syndrome, type I173
HP:0030453HP:0030453Abnormal visual electrophysiology0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 178
HP:0030453HP:0030453Abnormal visual electrophysiology0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosa777
HP:0030453HP:0030453Abnormal visual electrophysiology0USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39777
HP:0030453HP:0030453Abnormal visual electrophysiology0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2777
HP:0030453HP:0030453Abnormal visual electrophysiology0USP45 CL E G H8501520080ORPHA:65Leber congenital amaurosis
HP:0030453HP:0030453Abnormal visual electrophysiology0USP45 CL E G H8501520080OMIM:618513LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0030453HP:0030453Abnormal visual electrophysiology0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0030453HP:0030453Abnormal visual electrophysiology0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0030453HP:0030453Abnormal visual electrophysiology0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2155
HP:0030453HP:0030453Abnormal visual electrophysiology0WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28149
HP:0030453HP:0030453Abnormal visual electrophysiology0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosa14
HP:0030453HP:0030453Abnormal visual electrophysiology0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosa27
HP:0030453HP:0030453Abnormal visual electrophysiology0ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 5827
HP:0030453HP:0030453Abnormal visual electrophysiology0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0030453HP:0030453Abnormal visual electrophysiology0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0030453HP:0000649Abnormality of visual evoked potentials1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0030453HP:0000512Abnormal electroretinogram1ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0030453HP:0000512Abnormal electroretinogram1ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0030453HP:0000512Abnormal electroretinogram1ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0030453HP:0000649Abnormality of visual evoked potentials1ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0030453HP:0000512Abnormal electroretinogram1ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0030453HP:0000649Abnormality of visual evoked potentials1ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040281 - Very frequent120
HP:0030453HP:0000512Abnormal electroretinogram1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0030453HP:0000512Abnormal electroretinogram1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0030453HP:0000512Abnormal electroretinogram1ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent530
HP:0030453HP:0000512Abnormal electroretinogram1AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0030453HP:0000512Abnormal electroretinogram1AGK CL E G H5575021869ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040283 - Occasional82
HP:0030453HP:0000512Abnormal electroretinogram1AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0030453HP:0000512Abnormal electroretinogram1AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0030453HP:0000512Abnormal electroretinogram1AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0030453HP:0000512Abnormal electroretinogram1AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent114
HP:0030453HP:0000512Abnormal electroretinogram1AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4114
HP:0030453HP:0000512Abnormal electroretinogram1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0030453HP:0000512Abnormal electroretinogram1ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0030453HP:0000649Abnormality of visual evoked potentials1ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0030453HP:0000512Abnormal electroretinogram1ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0030453HP:0000512Abnormal electroretinogram1ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0030453HP:0000512Abnormal electroretinogram1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0030453HP:0000512Abnormal electroretinogram1ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0030453HP:0000649Abnormality of visual evoked potentials1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0030453HP:0000649Abnormality of visual evoked potentials1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0030453HP:0000649Abnormality of visual evoked potentials1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional253
HP:0030453HP:0000512Abnormal electroretinogram1ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0030453HP:0000649Abnormality of visual evoked potentials1ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0030453HP:0000512Abnormal electroretinogram1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0030453HP:0000649Abnormality of visual evoked potentials1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0030453HP:0030454Abnormal electrooculogram1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0030453HP:0000512Abnormal electroretinogram1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0030453HP:0000512Abnormal electroretinogram1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0030453HP:0000512Abnormal electroretinogram1BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0030453HP:0000512Abnormal electroretinogram1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0030453HP:0000512Abnormal electroretinogram1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0030453HP:0000512Abnormal electroretinogram1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0030453HP:0000512Abnormal electroretinogram1BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0030453HP:0000512Abnormal electroretinogram1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0030453HP:0000512Abnormal electroretinogram1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0030453HP:0000512Abnormal electroretinogram1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0030453HP:0000512Abnormal electroretinogram1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0030453HP:0000512Abnormal electroretinogram1BEST1 CL E G H743912703OMIM:611809BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB182
HP:0030453HP:0000512Abnormal electroretinogram1BEST1 CL E G H743912703OMIM:153700Macular dystrophy, vitelliform, 2.182
HP:0030453HP:0000512Abnormal electroretinogram1BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0030453HP:0000512Abnormal electroretinogram1BEST1 CL E G H743912703OMIM:613194Retinitis pigmentosa-50182
HP:0030453HP:0000512Abnormal electroretinogram1CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0030453HP:0000512Abnormal electroretinogram1CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0030453HP:0000512Abnormal electroretinogram1CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindness94
HP:0030453HP:0000512Abnormal electroretinogram1CACNA1F CL E G H7781393ORPHA:178333Åland Islands eye diseaseHP:0040281 - Very frequent58
HP:0030453HP:0000512Abnormal electroretinogram1CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 358
HP:0030453HP:0000512Abnormal electroretinogram1CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindness58
HP:0030453HP:0000512Abnormal electroretinogram1CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0030453HP:0000512Abnormal electroretinogram1CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindness129
HP:0030453HP:0000512Abnormal electroretinogram1CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0030453HP:0000512Abnormal electroretinogram1CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6
HP:0030453HP:0000512Abnormal electroretinogram1CC2D2A CL E G H5754529253OMIM:619845RETINITIS PIGMENTOSA 93; RP93247
HP:0030453HP:0000512Abnormal electroretinogram1CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0030453HP:0000512Abnormal electroretinogram1CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0030453HP:0000512Abnormal electroretinogram1CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0030453HP:0000512Abnormal electroretinogram1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0030453HP:0000512Abnormal electroretinogram1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0030453HP:0000512Abnormal electroretinogram1CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent342
HP:0030453HP:0000512Abnormal electroretinogram1CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent9
HP:0030453HP:0000512Abnormal electroretinogram1CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0030453HP:0000512Abnormal electroretinogram1CERKL CL E G H37529821699OMIM:608380Retinitis pigmentosa 2671
HP:0030453HP:0000512Abnormal electroretinogram1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0030453HP:0000512Abnormal electroretinogram1CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1CHM CL E G H11211940ORPHA:180ChoroideremiaHP:0040281 - Very frequent47
HP:0030453HP:0000512Abnormal electroretinogram1CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0030453HP:0000512Abnormal electroretinogram1CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0030453HP:0000649Abnormality of visual evoked potentials1CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0030453HP:0000512Abnormal electroretinogram1CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3216
HP:0030453HP:0000512Abnormal electroretinogram1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0030453HP:0000649Abnormality of visual evoked potentials1CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040281 - Very frequent141
HP:0030453HP:0000649Abnormality of visual evoked potentials1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0030453HP:0000512Abnormal electroretinogram1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0030453HP:0000512Abnormal electroretinogram1CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0030453HP:0000512Abnormal electroretinogram1CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0030453HP:0000512Abnormal electroretinogram1CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent60
HP:0030453HP:0000512Abnormal electroretinogram1CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0030453HP:0000512Abnormal electroretinogram1CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0030453HP:0000512Abnormal electroretinogram1CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0030453HP:0000512Abnormal electroretinogram1CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0030453HP:0000512Abnormal electroretinogram1CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45164
HP:0030453HP:0000512Abnormal electroretinogram1CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0030453HP:0000512Abnormal electroretinogram1CNGB3 CL E G H547142153ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent194
HP:0030453HP:0000649Abnormality of visual evoked potentials1CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0030453HP:0000649Abnormality of visual evoked potentials1COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0030453HP:0000649Abnormality of visual evoked potentials1COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0030453HP:0000512Abnormal electroretinogram1CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent156
HP:0030453HP:0000512Abnormal electroretinogram1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0030453HP:0000512Abnormal electroretinogram1CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0030453HP:0000512Abnormal electroretinogram1CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0030453HP:0000512Abnormal electroretinogram1CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0030453HP:0000512Abnormal electroretinogram1CRX CL E G H14062383ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent158
HP:0030453HP:0000512Abnormal electroretinogram1CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7158
HP:0030453HP:0000512Abnormal electroretinogram1CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0030453HP:0000649Abnormality of visual evoked potentials1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0030453HP:0000512Abnormal electroretinogram1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0030453HP:0000649Abnormality of visual evoked potentials1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0030453HP:0000512Abnormal electroretinogram1CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophy126
HP:0030453HP:0000512Abnormal electroretinogram1DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0030453HP:0000512Abnormal electroretinogram1DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0030453HP:0000649Abnormality of visual evoked potentials1ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardationHP:0040283 - Occasional62
HP:0030453HP:0000649Abnormality of visual evoked potentials1ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0030453HP:0000649Abnormality of visual evoked potentials1EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0030453HP:0000512Abnormal electroretinogram1EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0030453HP:0000649Abnormality of visual evoked potentials1EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040282 - Frequent5
HP:0030453HP:0000649Abnormality of visual evoked potentials1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0030453HP:0000649Abnormality of visual evoked potentials1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0030453HP:0000512Abnormal electroretinogram1ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0030453HP:0000512Abnormal electroretinogram1EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0030453HP:0000512Abnormal electroretinogram1EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0030453HP:0000512Abnormal electroretinogram1FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0030453HP:0000512Abnormal electroretinogram1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0030453HP:0000512Abnormal electroretinogram1FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0030453HP:0000649Abnormality of visual evoked potentials1FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0030453HP:0000649Abnormality of visual evoked potentials1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent160
HP:0030453HP:0000649Abnormality of visual evoked potentials1GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0030453HP:0000649Abnormality of visual evoked potentials1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0030453HP:0000512Abnormal electroretinogram1GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent64
HP:0030453HP:0000649Abnormality of visual evoked potentials1GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040281 - Very frequent37
HP:0030453HP:0000512Abnormal electroretinogram1GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindness39
HP:0030453HP:0000512Abnormal electroretinogram1GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0030453HP:0000512Abnormal electroretinogram1GNAT2 CL E G H27804394ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent19
HP:0030453HP:0000512Abnormal electroretinogram1GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindness5
HP:0030453HP:0000512Abnormal electroretinogram1GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040282 - Frequent7
HP:0030453HP:0000512Abnormal electroretinogram1GNB5 CL E G H106814401OMIM:617173Intellectual developmental disorder with cardiac arrhythmia.7
HP:0030453HP:0000512Abnormal electroretinogram1GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindness124
HP:0030453HP:0000512Abnormal electroretinogram1GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindness4
HP:0030453HP:0000512Abnormal electroretinogram1GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0030453HP:0000512Abnormal electroretinogram1GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindness63
HP:0030453HP:0000512Abnormal electroretinogram1GUCA1A CL E G H29784678ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent24
HP:0030453HP:0000512Abnormal electroretinogram1GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0030453HP:0000512Abnormal electroretinogram1GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent124
HP:0030453HP:0000512Abnormal electroretinogram1GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0030453HP:0000512Abnormal electroretinogram1HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent99
HP:0030453HP:0000512Abnormal electroretinogram1HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0030453HP:0000512Abnormal electroretinogram1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0030453HP:0000512Abnormal electroretinogram1IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0030453HP:0000512Abnormal electroretinogram1IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0030453HP:0000512Abnormal electroretinogram1IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated form86
HP:0030453HP:0000512Abnormal electroretinogram1IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe form86
HP:0030453HP:0000512Abnormal electroretinogram1IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent148
HP:0030453HP:0000512Abnormal electroretinogram1IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0030453HP:0000512Abnormal electroretinogram1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0030453HP:0000512Abnormal electroretinogram1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0030453HP:0000512Abnormal electroretinogram1IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0030453HP:0000512Abnormal electroretinogram1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0030453HP:0000512Abnormal electroretinogram1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0030453HP:0000512Abnormal electroretinogram1IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0030453HP:0000512Abnormal electroretinogram1IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent52
HP:0030453HP:0000512Abnormal electroretinogram1IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0030453HP:0000512Abnormal electroretinogram1IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0030453HP:0030454Abnormal electrooculogram1IMPG1 CL E G H36176055OMIM:616151Macular dystrophy, vitelliform, 44
HP:0030453HP:0000512Abnormal electroretinogram1IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0030453HP:0000512Abnormal electroretinogram1IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0030453HP:0000512Abnormal electroretinogram1IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent61
HP:0030453HP:0000512Abnormal electroretinogram1KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent42
HP:0030453HP:0000512Abnormal electroretinogram1KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0030453HP:0000512Abnormal electroretinogram1KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0030453HP:0000512Abnormal electroretinogram1KIZ CL E G H5585715865OMIM:615780Retinitis pigmentosa 693
HP:0030453HP:0000512Abnormal electroretinogram1KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0030453HP:0000649Abnormality of visual evoked potentials1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0030453HP:0000512Abnormal electroretinogram1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0030453HP:0000512Abnormal electroretinogram1LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent70
HP:0030453HP:0000512Abnormal electroretinogram1LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 570
HP:0030453HP:0000512Abnormal electroretinogram1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0030453HP:0000512Abnormal electroretinogram1LRAT CL E G H92276685ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent62
HP:0030453HP:0000512Abnormal electroretinogram1LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 1462
HP:0030453HP:0000512Abnormal electroretinogram1LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0030453HP:0000512Abnormal electroretinogram1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0030453HP:0000512Abnormal electroretinogram1LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindness54
HP:0030453HP:0000512Abnormal electroretinogram1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0030453HP:0000512Abnormal electroretinogram1MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0030453HP:0000512Abnormal electroretinogram1MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0030453HP:0000512Abnormal electroretinogram1MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040283 - Occasional78
HP:0030453HP:0000649Abnormality of visual evoked potentials1MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0030453HP:0000512Abnormal electroretinogram1MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0030453HP:0000649Abnormality of visual evoked potentials1MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0030453HP:0000649Abnormality of visual evoked potentials1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0030453HP:0000512Abnormal electroretinogram1MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0030453HP:0000512Abnormal electroretinogram1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0030453HP:0000512Abnormal electroretinogram1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0030453HP:0000649Abnormality of visual evoked potentials1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0030453HP:0000649Abnormality of visual evoked potentials1MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0030453HP:0000512Abnormal electroretinogram1MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0030453HP:0000512Abnormal electroretinogram1MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent516
HP:0030453HP:0000512Abnormal electroretinogram1MYO7A CL E G H46477606OMIM:276900Usher syndrome, type I516
HP:0030453HP:0000649Abnormality of visual evoked potentials1NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0030453HP:0000649Abnormality of visual evoked potentials1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0030453HP:0000512Abnormal electroretinogram1NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0030453HP:0000512Abnormal electroretinogram1NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent15
HP:0030453HP:0000512Abnormal electroretinogram1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0030453HP:0000512Abnormal electroretinogram1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0030453HP:0000512Abnormal electroretinogram1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0030453HP:0000649Abnormality of visual evoked potentials1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0030453HP:0000512Abnormal electroretinogram1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0030453HP:0000512Abnormal electroretinogram1NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome58
HP:0030453HP:0000512Abnormal electroretinogram1NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0030453HP:0000512Abnormal electroretinogram1NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0030453HP:0000512Abnormal electroretinogram1NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0030453HP:0000512Abnormal electroretinogram1NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 2730
HP:0030453HP:0000512Abnormal electroretinogram1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0030453HP:0000512Abnormal electroretinogram1NYX CL E G H605068082ORPHA:215Congenital stationary night blindness42
HP:0030453HP:0000512Abnormal electroretinogram1OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0030453HP:0000649Abnormality of visual evoked potentials1OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0030453HP:0000649Abnormality of visual evoked potentials1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0030453HP:0000649Abnormality of visual evoked potentials1OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0030453HP:0000512Abnormal electroretinogram1OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatismHP:0040283 - Occasional7
HP:0030453HP:0000512Abnormal electroretinogram1OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatismHP:0040283 - Occasional5
HP:0030453HP:0000512Abnormal electroretinogram1OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0030453HP:0000649Abnormality of visual evoked potentials1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0030453HP:0000512Abnormal electroretinogram1PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54.
HP:0030453HP:0000512Abnormal electroretinogram1PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent352
HP:0030453HP:0000512Abnormal electroretinogram1PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent11
HP:0030453HP:0000512Abnormal electroretinogram1PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0030453HP:0000512Abnormal electroretinogram1PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0030453HP:0000512Abnormal electroretinogram1PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0030453HP:0000512Abnormal electroretinogram1PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindness126
HP:0030453HP:0000512Abnormal electroretinogram1PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0030453HP:0000512Abnormal electroretinogram1PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0030453HP:0000512Abnormal electroretinogram1PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0030453HP:0000512Abnormal electroretinogram1PDE6C CL E G H51468787ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent80
HP:0030453HP:0000512Abnormal electroretinogram1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0030453HP:0000512Abnormal electroretinogram1PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0030453HP:0000512Abnormal electroretinogram1PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0030453HP:0000512Abnormal electroretinogram1PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A14
HP:0030453HP:0000649Abnormality of visual evoked potentials1PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0030453HP:0000512Abnormal electroretinogram1PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent40
HP:0030453HP:0000512Abnormal electroretinogram1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0030453HP:0000512Abnormal electroretinogram1PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0030453HP:0000512Abnormal electroretinogram1PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0030453HP:0000512Abnormal electroretinogram1PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040282 - Frequent77
HP:0030453HP:0000649Abnormality of visual evoked potentials1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0030453HP:0000649Abnormality of visual evoked potentials1PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0030453HP:0000512Abnormal electroretinogram1PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent103
HP:0030453HP:0000649Abnormality of visual evoked potentials1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0030453HP:0000512Abnormal electroretinogram1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0030453HP:0000649Abnormality of visual evoked potentials1POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0030453HP:0000512Abnormal electroretinogram1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0030453HP:0000649Abnormality of visual evoked potentials1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0030453HP:0000512Abnormal electroretinogram1POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0030453HP:0000512Abnormal electroretinogram1PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1172
HP:0030453HP:0000512Abnormal electroretinogram1PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0030453HP:0000512Abnormal electroretinogram1PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0030453HP:0000512Abnormal electroretinogram1PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0030453HP:0000512Abnormal electroretinogram1PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0030453HP:0000512Abnormal electroretinogram1PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0030453HP:0000649Abnormality of visual evoked potentials1PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0030453HP:0000512Abnormal electroretinogram1PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0030453HP:0000512Abnormal electroretinogram1PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0030453HP:0000512Abnormal electroretinogram1PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0030453HP:0000512Abnormal electroretinogram1PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0030453HP:0000512Abnormal electroretinogram1PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0030453HP:0000512Abnormal electroretinogram1PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0030453HP:0000512Abnormal electroretinogram1PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7.159
HP:0030453HP:0000512Abnormal electroretinogram1PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescens159
HP:0030453HP:0000649Abnormality of visual evoked potentials1PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0030453HP:0000649Abnormality of visual evoked potentials1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0030453HP:0000649Abnormality of visual evoked potentials1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent81
HP:0030453HP:0000649Abnormality of visual evoked potentials1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0030453HP:0000649Abnormality of visual evoked potentials1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0030453HP:0000649Abnormality of visual evoked potentials1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional81
HP:0030453HP:0000649Abnormality of visual evoked potentials1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040282 - Frequent85
HP:0030453HP:0000649Abnormality of visual evoked potentials1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040282 - Frequent90
HP:0030453HP:0000649Abnormality of visual evoked potentials1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040282 - Frequent135
HP:0030453HP:0000649Abnormality of visual evoked potentials1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0030453HP:0000512Abnormal electroretinogram1RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0030453HP:0000512Abnormal electroretinogram1RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent95
HP:0030453HP:0000649Abnormality of visual evoked potentials1RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome2
HP:0030453HP:0000512Abnormal electroretinogram1RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent45
HP:0030453HP:0000512Abnormal electroretinogram1RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0030453HP:0000512Abnormal electroretinogram1RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescens32
HP:0030453HP:0000512Abnormal electroretinogram1REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0030453HP:0000512Abnormal electroretinogram1RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0030453HP:0000512Abnormal electroretinogram1RGR CL E G H59959990OMIM:613769RETINITIS PIGMENTOSA 44; RP4428
HP:0030453HP:0000512Abnormal electroretinogram1RHO CL E G H601010012ORPHA:215Congenital stationary night blindness107
HP:0030453HP:0000512Abnormal electroretinogram1RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0030453HP:0000512Abnormal electroretinogram1RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0030453HP:0000512Abnormal electroretinogram1RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4.107
HP:0030453HP:0000512Abnormal electroretinogram1RHO CL E G H601010012ORPHA:52427Retinitis punctata albescens107
HP:0030453HP:0000512Abnormal electroretinogram1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0030453HP:0000512Abnormal electroretinogram1RLBP1 CL E G H601710024OMIM:607475Bothnia retinal dystrophy.47
HP:0030453HP:0000512Abnormal electroretinogram1RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0030453HP:0000512Abnormal electroretinogram1RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescens47
HP:0030453HP:0000512Abnormal electroretinogram1RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent10
HP:0030453HP:0000512Abnormal electroretinogram1ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0030453HP:0000512Abnormal electroretinogram1ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 7.38
HP:0030453HP:0000512Abnormal electroretinogram1RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0030453HP:0000512Abnormal electroretinogram1RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0030453HP:0000512Abnormal electroretinogram1RP1L1 CL E G H9413715946OMIM:613587OCCULT MACULAR DYSTROPHY; OCMD284
HP:0030453HP:0000512Abnormal electroretinogram1RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0030453HP:0000512Abnormal electroretinogram1RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0030453HP:0000512Abnormal electroretinogram1RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0030453HP:0000512Abnormal electroretinogram1RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 914
HP:0030453HP:0000512Abnormal electroretinogram1RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent129
HP:0030453HP:0000512Abnormal electroretinogram1RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0030453HP:0000512Abnormal electroretinogram1RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0030453HP:0000512Abnormal electroretinogram1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0030453HP:0000512Abnormal electroretinogram1RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0030453HP:0000512Abnormal electroretinogram1RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0030453HP:0000512Abnormal electroretinogram1RPGRIP1 CL E G H5709613436OMIM:608194CONE-ROD DYSTROPHY 13; CORD13109
HP:0030453HP:0000512Abnormal electroretinogram1RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent109
HP:0030453HP:0000512Abnormal electroretinogram1RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6109
HP:0030453HP:0000512Abnormal electroretinogram1RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0030453HP:0000512Abnormal electroretinogram1RS1 CL E G H624710457ORPHA:792X-linked retinoschisisHP:0040281 - Very frequent148
HP:0030453HP:0000512Abnormal electroretinogram1SAG CL E G H629510521ORPHA:215Congenital stationary night blindness32
HP:0030453HP:0000512Abnormal electroretinogram1SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0030453HP:0000512Abnormal electroretinogram1SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0030453HP:0000512Abnormal electroretinogram1SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0030453HP:0000512Abnormal electroretinogram1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0030453HP:0000649Abnormality of visual evoked potentials1SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0030453HP:0000512Abnormal electroretinogram1SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0030453HP:0000512Abnormal electroretinogram1SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0030453HP:0000512Abnormal electroretinogram1SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindness66
HP:0030453HP:0000649Abnormality of visual evoked potentials1SLC25A22 CL E G H7975119954OMIM:609304Epileptic encephalopathy, early infantile, 3.166
HP:0030453HP:0000512Abnormal electroretinogram1SLC25A4 CL E G H29110990ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040283 - Occasional68
HP:0030453HP:0000512Abnormal electroretinogram1SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0030453HP:0000512Abnormal electroretinogram1SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0030453HP:0000649Abnormality of visual evoked potentials1SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0030453HP:0000512Abnormal electroretinogram1SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosisHP:0040282 - Frequent48
HP:0030453HP:0000512Abnormal electroretinogram1SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0030453HP:0000512Abnormal electroretinogram1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0030453HP:0000649Abnormality of visual evoked potentials1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0030453HP:0000512Abnormal electroretinogram1SSBP1 CL E G H674211317OMIM:165510Optic atrophy with negative electroretinograms.
HP:0030453HP:0000649Abnormality of visual evoked potentials1SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0030453HP:0000512Abnormal electroretinogram1SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0030453HP:0000649Abnormality of visual evoked potentials1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040282 - Frequent15
HP:0030453HP:0000649Abnormality of visual evoked potentials1TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0030453HP:0000649Abnormality of visual evoked potentials1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0030453HP:0000512Abnormal electroretinogram1TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome.15
HP:0030453HP:0000512Abnormal electroretinogram1TIMP3 CL E G H707811822OMIM:136900Sorsby fundus dystrophy.95
HP:0030453HP:0000512Abnormal electroretinogram1TKFC CL E G H2600724552ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040283 - Occasional
HP:0030453HP:0000512Abnormal electroretinogram1TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0030453HP:0000649Abnormality of visual evoked potentials1TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0030453HP:0000512Abnormal electroretinogram1TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0030453HP:0000512Abnormal electroretinogram1TOPORS CL E G H1021021653OMIM:609923Retinitis pigmentosa 3161
HP:0030453HP:0000512Abnormal electroretinogram1TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2203
HP:0030453HP:0000512Abnormal electroretinogram1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0030453HP:0000512Abnormal electroretinogram1TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0030453HP:0000512Abnormal electroretinogram1TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindness