Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of vision (HP:0000504)help
..Starting node
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Nyctalopia (HP:0000662)help
Term ID: 662
Name: Nyctalopia
Synonym: Difficulties with night vision; Night blindness; Night-blindness; Poor night vision
Definition: Inability to see well at night or in poor light.
Comments:
Reference: HP:0000662
Genes and Diseases:
 
       Child Nodes:
........expandCongenital stationary night blindness (HP:0007642) help
................... HP:0030638 Congenital stationary night blindness with normal fundus
................... HP:0030639 Congenital stationary night blindness with abnormal fundus
........expandProgressive night blindness (HP:0007675) help
........expandAdult-onset night blindness (HP:0007830) help

 Sister Nodes: 
..expandAbnormality of binocular vision (HP:0011514) help
..expandAmaurosis fugax (HP:0100576) help
..expandBlurred vision (HP:0000622) help
..expandBradyopsia (HP:0030511) help
..expandColor vision defect (HP:0000551) help
..expandDifficulty adjusting to changes in luminance (HP:0030512) help
..expandHemeralopia (HP:0012047) help
..expandMetamorphopsia (HP:0012508) help
..expandPhotophobia (HP:0000613) help
..expandPhotopsia (HP:0030786) help
..expandPoor visual behavior for age (HP:0025152) help
..expandReduced visual acuity (HP:0007663) help
..expandVisual field defect (HP:0001123) help
..expandVisual impairment (HP:0000505) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) 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:0000662HP:0000662Nyctalopia0ABCA4 CL E G H2434ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent826
HP:0000662HP:0000662Nyctalopia0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosa826
HP:0000662HP:0000662Nyctalopia0ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0000662HP:0000662Nyctalopia0ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0000662HP:0000662Nyctalopia0ADAM9 CL E G H8754216ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent41
HP:0000662HP:0000662Nyctalopia0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent530
HP:0000662HP:0000662Nyctalopia0AGBL1 CL E G H12362426504ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0000662HP:0000662Nyctalopia0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosa2
HP:0000662HP:0000662Nyctalopia0AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 75.2
HP:0000662HP:0000662Nyctalopia0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosa175
HP:0000662HP:0000662Nyctalopia0AHR CL E G H196348ORPHA:791Retinitis pigmentosa2
HP:0000662HP:0000662Nyctalopia0AHR CL E G H196348OMIM:618345RETINITIS PIGMENTOSA 85; RP852
HP:0000662HP:0000662Nyctalopia0AIPL1 CL E G H23746359ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent114
HP:0000662HP:0000662Nyctalopia0AIPL1 CL E G H23746359OMIM:604393Leber congenital amaurosis 4.114
HP:0000662HP:0000662Nyctalopia0AIPL1 CL E G H23746359OMIM:268000Retinitis pigmentosa.114
HP:0000662HP:0000662Nyctalopia0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosa6
HP:0000662HP:0000662Nyctalopia0ARHGEF18 CL E G H2337017090OMIM:617433Retinitis pigmentosa 78.6
HP:0000662HP:0000662Nyctalopia0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosa3
HP:0000662HP:0000662Nyctalopia0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000662HP:0000662Nyctalopia0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosa1
HP:0000662HP:0000662Nyctalopia0ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0000662HP:0000662Nyctalopia0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000662HP:0000662Nyctalopia0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0000662HP:0000662Nyctalopia0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosa29
HP:0000662HP:0000662Nyctalopia0ARL6 CL E G H8410013210OMIM:268000Retinitis pigmentosa.29
HP:0000662HP:0000662Nyctalopia0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000662HP:0000662Nyctalopia0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0000662HP:0000662Nyctalopia0ATF6 CL E G H22926791ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent10
HP:0000662HP:0000662Nyctalopia0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000662HP:0000662Nyctalopia0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosa114
HP:0000662HP:0000662Nyctalopia0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosa97
HP:0000662HP:0000662Nyctalopia0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 487
HP:0000662HP:0000662Nyctalopia0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosa182
HP:0000662HP:0000662Nyctalopia0BEST1 CL E G H743912703OMIM:613194Retinitis pigmentosa-50182
HP:0000662HP:0000662Nyctalopia0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000662HP:0000662Nyctalopia0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040282 - Frequent20
HP:0000662HP:0000662Nyctalopia0C1QTNF5 CL E G H11490214344OMIM:605670Late-Onset retinal degeneration20
HP:0000662HP:0000662Nyctalopia0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosa23
HP:0000662HP:0000662Nyctalopia0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0000662HP:0000662Nyctalopia0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent94
HP:0000662HP:0000662Nyctalopia0CACNA1F CL E G H7781393ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent58
HP:0000662HP:0000662Nyctalopia0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent58
HP:0000662HP:0000662Nyctalopia0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0000662HP:0000662Nyctalopia0CACNA2D4 CL E G H9358920202ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent129
HP:0000662HP:0000662Nyctalopia0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent129
HP:0000662HP:0000662Nyctalopia0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000662HP:0000662Nyctalopia0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0000662HP:0000662Nyctalopia0CDHR1 CL E G H9221114550ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent147
HP:0000662HP:0000662Nyctalopia0CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0000662HP:0000662Nyctalopia0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosa147
HP:0000662HP:0000662Nyctalopia0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent9
HP:0000662HP:0000662Nyctalopia0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosa71
HP:0000662HP:0000662Nyctalopia0CFAP410 CL E G H7551260ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0000662HP:0000662Nyctalopia0CFAP410 CL E G H7551260OMIM:617547Retinal dystrophy with or without macular staphyloma.
HP:0000662HP:0000662Nyctalopia0CFAP418 CL E G H15765727232ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0000662HP:0000662Nyctalopia0CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0000662HP:0000662Nyctalopia0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosa
HP:0000662HP:0000662Nyctalopia0CFAP418 CL E G H15765727232OMIM:268000Retinitis pigmentosa.
HP:0000662HP:0000662Nyctalopia0CHM CL E G H11211940ORPHA:180ChoroideremiaHP:0040281 - Very frequent47
HP:0000662HP:0000662Nyctalopia0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA.47
HP:0000662HP:0000662Nyctalopia0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0000662HP:0000662Nyctalopia0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0000662HP:0000662Nyctalopia0CLEC3B CL E G H712311891OMIM:619977
HP:0000662HP:0000662Nyctalopia0CLRN1 CL E G H740112605OMIM:268000Retinitis pigmentosa.60
HP:0000662HP:0000662Nyctalopia0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosa60
HP:0000662HP:0000662Nyctalopia0CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0000662HP:0000662Nyctalopia0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent60
HP:0000662HP:0000662Nyctalopia0CLRN1 CL E G H740112605OMIM:276902Usher syndrome, type IIIA.60
HP:0000662HP:0000662Nyctalopia0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosa44
HP:0000662HP:0000662Nyctalopia0CNGA1 CL E G H12592148OMIM:268000Retinitis pigmentosa.44
HP:0000662HP:0000662Nyctalopia0CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0000662HP:0000662Nyctalopia0CNGA3 CL E G H12612150ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent82
HP:0000662HP:0000662Nyctalopia0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosa164
HP:0000662HP:0000662Nyctalopia0CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45.164
HP:0000662HP:0000662Nyctalopia0CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0000662HP:0000662Nyctalopia0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome.61
HP:0000662HP:0000662Nyctalopia0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0000662HP:0000662Nyctalopia0COL8A2 CL E G H12962216ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0000662HP:0000662Nyctalopia0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosa156
HP:0000662HP:0000662Nyctalopia0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12.156
HP:0000662HP:0000662Nyctalopia0CRX CL E G H14062383ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent158
HP:0000662HP:0000662Nyctalopia0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0000662HP:0000662Nyctalopia0CRX CL E G H14062383OMIM:268000Retinitis pigmentosa.158
HP:0000662HP:0000662Nyctalopia0CRX CL E G H14062383ORPHA:791Retinitis pigmentosa158
HP:0000662HP:0000662Nyctalopia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040282 - Frequent4
HP:0000662HP:0000662Nyctalopia0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0000662HP:0000662Nyctalopia0CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy126
HP:0000662HP:0000662Nyctalopia0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040282 - Frequent126
HP:0000662HP:0000662Nyctalopia0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosa47
HP:0000662HP:0000662Nyctalopia0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 5947
HP:0000662HP:0000662Nyctalopia0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosa1
HP:0000662HP:0000662Nyctalopia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000662HP:0000662Nyctalopia0DRAM2 CL E G H12833828769ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent9
HP:0000662HP:0000662Nyctalopia0DRAM2 CL E G H12833828769OMIM:616502Cone-Rod dystrophy 21HP:0040283 - Occasional9
HP:0000662HP:0000662Nyctalopia0ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0000662HP:0000662Nyctalopia0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0000662HP:0000662Nyctalopia0ESPN CL E G H8371513281OMIM:618632USHER SYNDROME, TYPE 1M; USH1M33
HP:0000662HP:0000662Nyctalopia0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosa209
HP:0000662HP:0000662Nyctalopia0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0000662HP:0000662Nyctalopia0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosa56
HP:0000662HP:0000662Nyctalopia0FAM161A CL E G H8414025808OMIM:606068RETINITIS PIGMENTOSA 28; RP2856
HP:0000662HP:0000662Nyctalopia0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasia175
HP:0000662HP:0000662Nyctalopia0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000662HP:0000662Nyctalopia0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0000662HP:0000662Nyctalopia0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosa26
HP:0000662HP:0000662Nyctalopia0FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0000662HP:0000662Nyctalopia0GGCX CL E G H26774247ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaHP:0040280 - Obligate129
HP:0000662HP:0000662Nyctalopia0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent39
HP:0000662HP:0000662Nyctalopia0GNAT1 CL E G H27794393OMIM:610444Night blindness, congenital stationary, autosomal dominant 339
HP:0000662HP:0000662Nyctalopia0GNAT1 CL E G H27794393OMIM:616389Night blindness, congenital stationary, type 1G39
HP:0000662HP:0000662Nyctalopia0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent5
HP:0000662HP:0000662Nyctalopia0GNB3 CL E G H27844400OMIM:617024Night blindness, congenital stationary, type 1H.5
HP:0000662HP:0000662Nyctalopia0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0000662HP:0000662Nyctalopia0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent124
HP:0000662HP:0000662Nyctalopia0GPR179 CL E G H44043531371OMIM:614565Night blindness, congenital stationary, type 1E124
HP:0000662HP:0000662Nyctalopia0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent4
HP:0000662HP:0000662Nyctalopia0GRK1 CL E G H601110013ORPHA:75382Oguchi disease4
HP:0000662HP:0000662Nyctalopia0GRK1 CL E G H601110013OMIM:613411OGUCHI DISEASE 24
HP:0000662HP:0000662Nyctalopia0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent63
HP:0000662HP:0000662Nyctalopia0GRM6 CL E G H29164598OMIM:257270Night blindness, congenital stationary, type 1B.63
HP:0000662HP:0000662Nyctalopia0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare24
HP:0000662HP:0000662Nyctalopia0GUCA1A CL E G H29784678ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent24
HP:0000662HP:0000662Nyctalopia0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosa36
HP:0000662HP:0000662Nyctalopia0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare124
HP:0000662HP:0000662Nyctalopia0GUCY2D CL E G H30004689ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent124
HP:0000662HP:0000662Nyctalopia0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0000662HP:0000662Nyctalopia0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0000662HP:0000662Nyctalopia0GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0000662HP:0000662Nyctalopia0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0000662HP:0000662Nyctalopia0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000662HP:0000662Nyctalopia0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosa86
HP:0000662HP:0000662Nyctalopia0HGSNAT CL E G H13805026527OMIM:616544Retinitis pigmentosa 73.86
HP:0000662HP:0000662Nyctalopia0HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 79.11
HP:0000662HP:0000662Nyctalopia0HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0000662HP:0000662Nyctalopia0HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040283 - Occasional26
HP:0000662HP:0000662Nyctalopia0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosa
HP:0000662HP:0000662Nyctalopia0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0000662HP:0000662Nyctalopia0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosa30
HP:0000662HP:0000662Nyctalopia0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0000662HP:0000662Nyctalopia0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0000662HP:0000662Nyctalopia0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosa148
HP:0000662HP:0000662Nyctalopia0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0000662HP:0000662Nyctalopia0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000662HP:0000662Nyctalopia0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosa48
HP:0000662HP:0000662Nyctalopia0IFT172 CL E G H2616030391OMIM:616394Retinitis pigmentosa 7148
HP:0000662HP:0000662Nyctalopia0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactylyHP:0040283 - Occasional48
HP:0000662HP:0000662Nyctalopia0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosa3
HP:0000662HP:0000662Nyctalopia0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosa52
HP:0000662HP:0000662Nyctalopia0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 10.52
HP:0000662HP:0000662Nyctalopia0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosa4
HP:0000662HP:0000662Nyctalopia0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosa120
HP:0000662HP:0000662Nyctalopia0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0000662HP:0000662Nyctalopia0INPP5E CL E G H5662321474ORPHA:75858MORM syndrome111
HP:0000662HP:0000662Nyctalopia0ITM2B CL E G H94456174OMIM:616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalitiesHP:0040283 - Occasional3
HP:0000662HP:0000662Nyctalopia0KCNJ13 CL E G H37696259OMIM:614186Leber congenital amaurosis 16.42
HP:0000662HP:0000662Nyctalopia0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3B.73
HP:0000662HP:0000662Nyctalopia0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosa
HP:0000662HP:0000662Nyctalopia0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0000662HP:0000662Nyctalopia0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0000662HP:0000662Nyctalopia0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosa3
HP:0000662HP:0000662Nyctalopia0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosa42
HP:0000662HP:0000662Nyctalopia0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0000662HP:0000662Nyctalopia0LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 14.62
HP:0000662HP:0000662Nyctalopia0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosa62
HP:0000662HP:0000662Nyctalopia0LRAT CL E G H92276685OMIM:268000Retinitis pigmentosa.62
HP:0000662HP:0000662Nyctalopia0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0000662HP:0000662Nyctalopia0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent54
HP:0000662HP:0000662Nyctalopia0LRIT3 CL E G H34519324783OMIM:615058Night blindness, congenital stationary, type 1F54
HP:0000662HP:0000662Nyctalopia0MAK CL E G H41176816ORPHA:791Retinitis pigmentosa53
HP:0000662HP:0000662Nyctalopia0MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 62.53
HP:0000662HP:0000662Nyctalopia0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosa75
HP:0000662HP:0000662Nyctalopia0MERTK CL E G H104617027OMIM:613862Retinitis pigmentosa 38.75
HP:0000662HP:0000662Nyctalopia0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040284 - Very rare203
HP:0000662HP:0000662Nyctalopia0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0000662HP:0000662Nyctalopia0MMP19 CL E G H43277165OMIM:611543Cavitary optic disc anomaliesHP:0040283 - Occasional2
HP:0000662HP:0000662Nyctalopia0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0000662HP:0000662Nyctalopia0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0000662HP:0000662Nyctalopia0MYO6 CL E G H46467605OMIM:607821Deafness, autosomal recessive 37179
HP:0000662HP:0000662Nyctalopia0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent516
HP:0000662HP:0000662Nyctalopia0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent516
HP:0000662HP:0000662Nyctalopia0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosa5
HP:0000662HP:0000662Nyctalopia0NMNAT1 CL E G H6480217877ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent15
HP:0000662HP:0000662Nyctalopia0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 9HP:0040283 - Occasional15
HP:0000662HP:0000662Nyctalopia0NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome.58
HP:0000662HP:0000662Nyctalopia0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosa58
HP:0000662HP:0000662Nyctalopia0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000662HP:0000662Nyctalopia0NRL CL E G H49018002ORPHA:791Retinitis pigmentosa30
HP:0000662HP:0000662Nyctalopia0NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 27.30
HP:0000662HP:0000662Nyctalopia0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent42
HP:0000662HP:0000662Nyctalopia0NYX CL E G H605068082OMIM:310500Night blindness, congenital stationary, type 1A42
HP:0000662HP:0000662Nyctalopia0OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retina94
HP:0000662HP:0000662Nyctalopia0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0000662HP:0000662Nyctalopia0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosa201
HP:0000662HP:0000662Nyctalopia0OPN1LW CL E G H59569936ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent7
HP:0000662HP:0000662Nyctalopia0OPN1MW CL E G H26524206ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent5
HP:0000662HP:0000662Nyctalopia0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosa
HP:0000662HP:0000662Nyctalopia0PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54.
HP:0000662HP:0000662Nyctalopia0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent352
HP:0000662HP:0000662Nyctalopia0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosa116
HP:0000662HP:0000662Nyctalopia0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0000662HP:0000662Nyctalopia0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent126
HP:0000662HP:0000662Nyctalopia0PDE6B CL E G H51588786OMIM:163500Night blindness, congenital stationary, autosomal dominant 2126
HP:0000662HP:0000662Nyctalopia0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosa126
HP:0000662HP:0000662Nyctalopia0PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0000662HP:0000662Nyctalopia0PDE6G CL E G H51488789OMIM:268000Retinitis pigmentosa.18
HP:0000662HP:0000662Nyctalopia0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosa18
HP:0000662HP:0000662Nyctalopia0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent40
HP:0000662HP:0000662Nyctalopia0PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent169
HP:0000662HP:0000662Nyctalopia0PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent75
HP:0000662HP:0000662Nyctalopia0PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent4
HP:0000662HP:0000662Nyctalopia0PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent65
HP:0000662HP:0000662Nyctalopia0PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent66
HP:0000662HP:0000662Nyctalopia0PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent46
HP:0000662HP:0000662Nyctalopia0PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent59
HP:0000662HP:0000662Nyctalopia0PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent62
HP:0000662HP:0000662Nyctalopia0PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent82
HP:0000662HP:0000662Nyctalopia0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent106
HP:0000662HP:0000662Nyctalopia0PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent47
HP:0000662HP:0000662Nyctalopia0PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent99
HP:0000662HP:0000662Nyctalopia0PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040281 - Very frequent98
HP:0000662HP:0000662Nyctalopia0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0000662HP:0000662Nyctalopia0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0000662HP:0000662Nyctalopia0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0000662HP:0000662Nyctalopia0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0000662HP:0000662Nyctalopia0PITPNM3 CL E G H8339421043ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent135
HP:0000662HP:0000662Nyctalopia0POC1B CL E G H28280930836ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent3
HP:0000662HP:0000662Nyctalopia0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosa180
HP:0000662HP:0000662Nyctalopia0POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0000662HP:0000662Nyctalopia0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0000662HP:0000662Nyctalopia0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosa39
HP:0000662HP:0000662Nyctalopia0PROM1 CL E G H88429454ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent110
HP:0000662HP:0000662Nyctalopia0PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0000662HP:0000662Nyctalopia0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosa110
HP:0000662HP:0000662Nyctalopia0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0000662HP:0000662Nyctalopia0PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0000662HP:0000662Nyctalopia0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosa28
HP:0000662HP:0000662Nyctalopia0PRPF3 CL E G H912917348OMIM:601414Retinitis pigmentosa 18.28
HP:0000662HP:0000662Nyctalopia0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosa70
HP:0000662HP:0000662Nyctalopia0PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0000662HP:0000662Nyctalopia0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosa2
HP:0000662HP:0000662Nyctalopia0PRPF4 CL E G H912817349OMIM:615922Retinitis pigmentosa 70.2
HP:0000662HP:0000662Nyctalopia0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosa51
HP:0000662HP:0000662Nyctalopia0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosa94
HP:0000662HP:0000662Nyctalopia0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 13.HP:0003621 - Juvenile onset94
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare159
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent159
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus.159
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942OMIM:169150Macular dystrophy, patterned, 1HP:0040283 - Occasional159
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosa159
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent159
HP:0000662HP:0000662Nyctalopia0PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0000662HP:0000662Nyctalopia0RAB28 CL E G H93649768ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent6
HP:0000662HP:0000662Nyctalopia0RAX2 CL E G H8483918286ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent52
HP:0000662HP:0000662Nyctalopia0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosa108
HP:0000662HP:0000662Nyctalopia0RBP3 CL E G H59499921OMIM:268000Retinitis pigmentosa.108
HP:0000662HP:0000662Nyctalopia0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66.108
HP:0000662HP:0000662Nyctalopia0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome2
HP:0000662HP:0000662Nyctalopia0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosa45
HP:0000662HP:0000662Nyctalopia0RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus.32
HP:0000662HP:0000662Nyctalopia0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent32
HP:0000662HP:0000662Nyctalopia0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosa5
HP:0000662HP:0000662Nyctalopia0REEP6 CL E G H9284030078OMIM:617304Retinitis pigmentosa 77.5
HP:0000662HP:0000662Nyctalopia0RGR CL E G H59959990ORPHA:791Retinitis pigmentosa28
HP:0000662HP:0000662Nyctalopia0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent107
HP:0000662HP:0000662Nyctalopia0RHO CL E G H601010012OMIM:136880Fundus albipunctatus.107
HP:0000662HP:0000662Nyctalopia0RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0000662HP:0000662Nyctalopia0RHO CL E G H601010012ORPHA:791Retinitis pigmentosa107
HP:0000662HP:0000662Nyctalopia0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4.107
HP:0000662HP:0000662Nyctalopia0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent107
HP:0000662HP:0000662Nyctalopia0RIMS1 CL E G H2299917282ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent102
HP:0000662HP:0000662Nyctalopia0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040283 - Occasional47
HP:0000662HP:0000662Nyctalopia0RLBP1 CL E G H601710024OMIM:607475Bothnia retinal dystrophy.47
HP:0000662HP:0000662Nyctalopia0RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus.47
HP:0000662HP:0000662Nyctalopia0RLBP1 CL E G H601710024OMIM:607476NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD47
HP:0000662HP:0000662Nyctalopia0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosa47
HP:0000662HP:0000662Nyctalopia0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent47
HP:0000662HP:0000662Nyctalopia0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0000662HP:0000662Nyctalopia0ROM1 CL E G H609410254OMIM:268000Retinitis pigmentosa.38
HP:0000662HP:0000662Nyctalopia0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosa38
HP:0000662HP:0000662Nyctalopia0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0000662HP:0000662Nyctalopia0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosa111
HP:0000662HP:0000662Nyctalopia0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1.111
HP:0000662HP:0000662Nyctalopia0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosa284
HP:0000662HP:0000662Nyctalopia0RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0000662HP:0000662Nyctalopia0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosa45
HP:0000662HP:0000662Nyctalopia0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked.45
HP:0000662HP:0000662Nyctalopia0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosa14
HP:0000662HP:0000662Nyctalopia0RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 9.14
HP:0000662HP:0000662Nyctalopia0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0000662HP:0000662Nyctalopia0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosa129
HP:0000662HP:0000662Nyctalopia0RPE65 CL E G H612110294OMIM:613794Retinitis pigmentosa 20.129
HP:0000662HP:0000662Nyctalopia0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0000662HP:0000662Nyctalopia0RPGR CL E G H610310295ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent200
HP:0000662HP:0000662Nyctalopia0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0000662HP:0000662Nyctalopia0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosa200
HP:0000662HP:0000662Nyctalopia0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000662HP:0000662Nyctalopia0RPGRIP1 CL E G H5709613436ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent109
HP:0000662HP:0000662Nyctalopia0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent32
HP:0000662HP:0000662Nyctalopia0SAG CL E G H629510521ORPHA:75382Oguchi disease32
HP:0000662HP:0000662Nyctalopia0SAG CL E G H629510521OMIM:258100Oguchi disease 132
HP:0000662HP:0000662Nyctalopia0SAG CL E G H629510521ORPHA:791Retinitis pigmentosa32
HP:0000662HP:0000662Nyctalopia0SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0000662HP:0000662Nyctalopia0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000662HP:0000662Nyctalopia0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosa
HP:0000662HP:0000662Nyctalopia0SEMA4A CL E G H6421810729ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent48
HP:0000662HP:0000662Nyctalopia0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 10.48
HP:0000662HP:0000662Nyctalopia0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosa48
HP:0000662HP:0000662Nyctalopia0SEMA4A CL E G H6421810729OMIM:610282Retinitis pigmentosa 35.48
HP:0000662HP:0000662Nyctalopia0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent66
HP:0000662HP:0000662Nyctalopia0SLC24A1 CL E G H918710975OMIM:613830Night blindness, congenital stationary, type 1D66
HP:0000662HP:0000662Nyctalopia0SLC4A11 CL E G H8395916438ORPHA:98974Fuchs endothelial corneal dystrophy66
HP:0000662HP:0000662Nyctalopia0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosa4
HP:0000662HP:0000662Nyctalopia0SLC7A14 CL E G H5770929326OMIM:615725Retinitis pigmentosa 68.4
HP:0000662HP:0000662Nyctalopia0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosa83
HP:0000662HP:0000662Nyctalopia0SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0000662HP:0000662Nyctalopia0SPATA7 CL E G H5581220423OMIM:604232LEBER CONGENITAL AMAUROSIS 3; LCA348
HP:0000662HP:0000662Nyctalopia0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosa48
HP:0000662HP:0000662Nyctalopia0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0000662HP:0000662Nyctalopia0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1HP:0040283 - Occasional31
HP:0000662HP:0000662Nyctalopia0TCF4 CL E G H692511634ORPHA:98974Fuchs endothelial corneal dystrophy241
HP:0000662HP:0000662Nyctalopia0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040282 - Frequent95
HP:0000662HP:0000662Nyctalopia0TLCD3B CL E G H8372325295ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0000662HP:0000662Nyctalopia0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosa61
HP:0000662HP:0000662Nyctalopia0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0000662HP:0000662Nyctalopia0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040281 - Very frequent
HP:0000662HP:0000662Nyctalopia0TRNT1 CL E G H5109517341OMIM:616959Retinitis pigmentosa and erythrocytic microcytosis28
HP:0000662HP:0000662Nyctalopia0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent104
HP:0000662HP:0000662Nyctalopia0TRPM1 CL E G H43087146OMIM:613216NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C104
HP:0000662HP:0000662Nyctalopia0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosa41
HP:0000662HP:0000662Nyctalopia0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 51.41
HP:0000662HP:0000662Nyctalopia0TTLL5 CL E G H2309319963ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent9
HP:0000662HP:0000662Nyctalopia0TTPA CL E G H727412404ORPHA:96Ataxia with vitamin E deficiencyHP:0040282 - Frequent62
HP:0000662HP:0000662Nyctalopia0TUB CL E G H727512406ORPHA:791Retinitis pigmentosa1
HP:0000662HP:0000662Nyctalopia0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0000662HP:0000662Nyctalopia0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosa66
HP:0000662HP:0000662Nyctalopia0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0000662HP:0000662Nyctalopia0UNC119 CL E G H909412565ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent30
HP:0000662HP:0000662Nyctalopia0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent173
HP:0000662HP:0000662Nyctalopia0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent78
HP:0000662HP:0000662Nyctalopia0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosa777
HP:0000662HP:0000662Nyctalopia0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent777
HP:0000662HP:0000662Nyctalopia0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000662HP:0000662Nyctalopia0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0000662HP:0000662Nyctalopia0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040281 - Very frequent155
HP:0000662HP:0000662Nyctalopia0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000662HP:0000662Nyctalopia0ZEB1 CL E G H693511642ORPHA:98974Fuchs endothelial corneal dystrophy8
HP:0000662HP:0000662Nyctalopia0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosa14
HP:0000662HP:0000662Nyctalopia0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 72.14
HP:0000662HP:0000662Nyctalopia0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosa27
HP:0000662HP:0000662Nyctalopia0ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 58.27
HP:0000662HP:0000662Nyctalopia0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000662HP:0007675Progressive night blindness1ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000662HP:0007675Progressive night blindness1AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000662HP:0007675Progressive night blindness1AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000662HP:0007675Progressive night blindness1AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000662HP:0007675Progressive night blindness1AHR CL E G H196348OMIM:618345RETINITIS PIGMENTOSA 85; RP852
HP:0000662HP:0007675Progressive night blindness1ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000662HP:0007675Progressive night blindness1ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000662HP:0007675Progressive night blindness1ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000662HP:0007675Progressive night blindness1ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000662HP:0007675Progressive night blindness1BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000662HP:0007675Progressive night blindness1BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000662HP:0007675Progressive night blindness1BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000662HP:0007830Adult-onset night blindness1C1QTNF5 CL E G H11490214344OMIM:605670Late-Onset retinal degeneration.20
HP:0000662HP:0007675Progressive night blindness1CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000662HP:0007642Congenital stationary night blindness1CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressive94
HP:0000662HP:0007642Congenital stationary night blindness1CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindness94
HP:0000662HP:0007642Congenital stationary night blindness1CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindness58
HP:0000662HP:0007642Congenital stationary night blindness1CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A.58
HP:0000662HP:0007642Congenital stationary night blindness1CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindness129
HP:0000662HP:0007675Progressive night blindness1CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000662HP:0007675Progressive night blindness1CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000662HP:0007675Progressive night blindness1CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000662HP:0007675Progressive night blindness1CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000662HP:0007675Progressive night blindness1CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000662HP:0007675Progressive night blindness1CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000662HP:0007675Progressive night blindness1CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000662HP:0007675Progressive night blindness1CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000662HP:0007675Progressive night blindness1CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy.126
HP:0000662HP:0007675Progressive night blindness1DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000662HP:0007675Progressive night blindness1DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000662HP:0007675Progressive night blindness1EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000662HP:0007675Progressive night blindness1FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000662HP:0007642Congenital stationary night blindness1FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0000662HP:0007675Progressive night blindness1FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000662HP:0007642Congenital stationary night blindness1GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindness39
HP:0000662HP:0007642Congenital stationary night blindness1GNAT1 CL E G H27794393OMIM:610444Night blindness, congenital stationary, autosomal dominant 3.39
HP:0000662HP:0007642Congenital stationary night blindness1GNAT1 CL E G H27794393OMIM:616389Night blindness, congenital stationary, type 1G.39
HP:0000662HP:0007642Congenital stationary night blindness1GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindness5
HP:0000662HP:0007642Congenital stationary night blindness1GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindness124
HP:0000662HP:0007642Congenital stationary night blindness1GPR179 CL E G H44043531371OMIM:614565Night blindness, congenital stationary, type 1E.124
HP:0000662HP:0007642Congenital stationary night blindness1GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindness4
HP:0000662HP:0007642Congenital stationary night blindness1GRK1 CL E G H601110013ORPHA:75382Oguchi diseaseHP:0040281 - Very frequent4
HP:0000662HP:0007642Congenital stationary night blindness1GRK1 CL E G H601110013OMIM:613411OGUCHI DISEASE 24
HP:0000662HP:0007642Congenital stationary night blindness1GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindness63
HP:0000662HP:0007642Congenital stationary night blindness1GRM6 CL E G H29164598OMIM:257270Night blindness, congenital stationary, type 1B.63
HP:0000662HP:0007675Progressive night blindness1GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000662HP:0007675Progressive night blindness1GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6.124
HP:0000662HP:0007675Progressive night blindness1HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000662HP:0007675Progressive night blindness1IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000662HP:0007675Progressive night blindness1IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000662HP:0007675Progressive night blindness1IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000662HP:0007675Progressive night blindness1IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000662HP:0007675Progressive night blindness1IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000662HP:0007675Progressive night blindness1IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000662HP:0007675Progressive night blindness1IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000662HP:0007675Progressive night blindness1IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000662HP:0007675Progressive night blindness1INPP5E CL E G H5662321474ORPHA:75858MORM syndromeHP:0040282 - Frequent111
HP:0000662HP:0007675Progressive night blindness1KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000662HP:0007675Progressive night blindness1KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000662HP:0007675Progressive night blindness1KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000662HP:0007675Progressive night blindness1LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000662HP:0007642Congenital stationary night blindness1LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindness54
HP:0000662HP:0007642Congenital stationary night blindness1LRIT3 CL E G H34519324783OMIM:615058Night blindness, congenital stationary, type 1F.54
HP:0000662HP:0007675Progressive night blindness1MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000662HP:0007675Progressive night blindness1MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000662HP:0007642Congenital stationary night blindness1MYO6 CL E G H46467605OMIM:607821Deafness, autosomal recessive 37HP:0040283 - Occasional179
HP:0000662HP:0007675Progressive night blindness1NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000662HP:0007675Progressive night blindness1NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0000662HP:0007675Progressive night blindness1NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000662HP:0007642Congenital stationary night blindness1NYX CL E G H605068082ORPHA:215Congenital stationary night blindness42
HP:0000662HP:0007642Congenital stationary night blindness1NYX CL E G H605068082OMIM:310500Night blindness, congenital stationary, type 1A.42
HP:0000662HP:0007675Progressive night blindness1OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040282 - Frequent94
HP:0000662HP:0007675Progressive night blindness1OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0000662HP:0007675Progressive night blindness1PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000662HP:0007675Progressive night blindness1PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0000662HP:0007642Congenital stationary night blindness1PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindness126
HP:0000662HP:0007642Congenital stationary night blindness1PDE6B CL E G H51588786OMIM:163500Night blindness, congenital stationary, autosomal dominant 2.126
HP:0000662HP:0007675Progressive night blindness1PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0000662HP:0007675Progressive night blindness1PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0000662HP:0007675Progressive night blindness1POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0000662HP:0007675Progressive night blindness1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0000662HP:0007675Progressive night blindness1PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0000662HP:0007675Progressive night blindness1PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0000662HP:0007675Progressive night blindness1PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000662HP:0007675Progressive night blindness1PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0000662HP:0007675Progressive night blindness1PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000662HP:0007675Progressive night blindness1PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0000662HP:0007675Progressive night blindness1PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0000662HP:0007642Congenital stationary night blindness1PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus159
HP:0000662HP:0007675Progressive night blindness1PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0000662HP:0007830Adult-onset night blindness1PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7.159
HP:0000662HP:0007675Progressive night blindness1PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent159
HP:0000662HP:0007675Progressive night blindness1RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0000662HP:0007675Progressive night blindness1RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0000662HP:0007675Progressive night blindness1RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000662HP:0007642Congenital stationary night blindness1RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus32
HP:0000662HP:0007675Progressive night blindness1RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent32
HP:0000662HP:0007675Progressive night blindness1REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000662HP:0007675Progressive night blindness1RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000662HP:0007642Congenital stationary night blindness1RHO CL E G H601010012ORPHA:215Congenital stationary night blindness107
HP:0000662HP:0007642Congenital stationary night blindness1RHO CL E G H601010012OMIM:136880Fundus albipunctatus107
HP:0000662HP:0007642Congenital stationary night blindness1RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0000662HP:0007675Progressive night blindness1RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0000662HP:0007675Progressive night blindness1RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent107
HP:0000662HP:0007642Congenital stationary night blindness1RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus47
HP:0000662HP:0007675Progressive night blindness1RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000662HP:0007675Progressive night blindness1RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent47
HP:0000662HP:0007675Progressive night blindness1ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0000662HP:0007830Adult-onset night blindness1ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 7.38
HP:0000662HP:0007675Progressive night blindness1RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0000662HP:0007675Progressive night blindness1RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0000662HP:0007675Progressive night blindness1RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000662HP:0007675Progressive night blindness1RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000662HP:0007675Progressive night blindness1RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000662HP:0007675Progressive night blindness1RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0000662HP:0007642Congenital stationary night blindness1SAG CL E G H629510521ORPHA:215Congenital stationary night blindness32
HP:0000662HP:0007642Congenital stationary night blindness1SAG CL E G H629510521ORPHA:75382Oguchi diseaseHP:0040281 - Very frequent32
HP:0000662HP:0007642Congenital stationary night blindness1SAG CL E G H629510521OMIM:258100Oguchi disease 1.32
HP:0000662HP:0007675Progressive night blindness1SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0000662HP:0007675Progressive night blindness1SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000662HP:0007675Progressive night blindness1SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000662HP:0007642Congenital stationary night blindness1SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindness66
HP:0000662HP:0007642Congenital stationary night blindness1SLC24A1 CL E G H918710975OMIM:613830Night blindness, congenital stationary, type 1D.66
HP:0000662HP:0007675Progressive night blindness1SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000662HP:0007675Progressive night blindness1SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0000662HP:0007675Progressive night blindness1SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000662HP:0007675Progressive night blindness1TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0000662HP:0007642Congenital stationary night blindness1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0000662HP:0007642Congenital stationary night blindness1TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindness104
HP:0000662HP:0007642Congenital stationary night blindness1TRPM1 CL E G H43087146OMIM:613216NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C104
HP:0000662HP:0007675Progressive night blindness1TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0000662HP:0007675Progressive night blindness1TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000662HP:0007675Progressive night blindness1TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0000662HP:0007675Progressive night blindness1USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0000662HP:0007675Progressive night blindness1ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000662HP:0007675Progressive night blindness1ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent94
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent94
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent58
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent58
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent129
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent129
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent39
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent39
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent5
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent5
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent124
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent124
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent4
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent4
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent63
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent63
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent54
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent54
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent42
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent42
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent126
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent126
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus159
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus32
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent107
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent107
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2RHO CL E G H601010012OMIM:136880Fundus albipunctatus107
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus47
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent32
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent32
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent66
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent66
HP:0000662HP:0030639Congenital stationary night blindness with abnormal fundus2TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent104
HP:0000662HP:0030638Congenital stationary night blindness with normal fundus2TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040282 - Frequent104
HP:0000662HP:0030641Incomplete congenital stationary night blindness3 CL E G H
HP:0000662HP:0030640Complete congenital stationary night blindness3 CL E G H
HP:0000662HP:0030642Fundus albipunctatus3PRPH2 CL E G H59619942OMIM:136880Fundus albipunctatus.159
HP:0000662HP:0030642Fundus albipunctatus3RDH5 CL E G H59599940OMIM:136880Fundus albipunctatus.32
HP:0000662HP:0030642Fundus albipunctatus3RHO CL E G H601010012OMIM:136880Fundus albipunctatus.107
HP:0000662HP:0030642Fundus albipunctatus3RLBP1 CL E G H601710024OMIM:136880Fundus albipunctatus.47


Genes (198) :ABCA4 ADAM9 ADGRV1 AGBL1 AGBL5 AHI1 AHR AIPL1 ARHGEF18 ARL2BP ARL3 ARL6 ARSG ATF6 BBS1 BBS2 BBS4 BEST1 C1QTNF5 CA4 CABP4 CACNA1F CACNA2D4 CCDC28B CDH23 CDHR1 CEP78 CERKL CFAP410 CFAP418 CHM CIB2 CLCC1 CLEC3B CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COG4 COL8A2 CRB1 CRX CWC27 CYP4V2 DHDDS DHX38 DPAGT1 DRAM2 ELOVL4 ESPN EYS FAM161A FGFR2 FLVCR1 FSCN2 GGCX GNAT1 GNB3 GNS GPR179 GRK1 GRM6 GUCA1A GUCA1B GUCY2D HADHA HARS1 HGSNAT HK1 HKDC1 HSD3B7 IDH3A IDH3B IDS IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 INPP5E ITM2B KCNJ13 KCNV2 KIAA1549 KIF3B KIZ KLHL7 LCA5 LRAT LRIT3 MAK MERTK MFN2 MFRP MMP19 MTTP MVK MYO6 MYO7A NEK2 NMNAT1 NR2E3 NRL NYX OAT OFD1 OPN1LW OPN1MW PCARE PCDH15 PDE6A PDE6B PDE6G PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PITPNM3 POC1B POMGNT1 POU3F4 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAB28 RAX2 RBP3 RDH11 RDH12 RDH5 REEP6 RGR RHO RIMS1 RLBP1 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SEMA4A SLC24A1 SLC4A11 SLC7A14 SNRNP200 SPATA7 STIM1 TCF4 TIMP3 TLCD3B TOPORS TRAPPC9 TRNS2 TRNT1 TRPM1 TTC8 TTLL5 TTPA TUB TULP1 UNC119 USH1C USH1G USH2A VPS13B WDR19 WHRN YARS1 ZEB1 ZNF408 ZNF513 ZPR1

Diseases (166) :ORPHA:1872 ORPHA:791 OMIM:601718 ORPHA:827 ORPHA:231178 ORPHA:98974 OMIM:617023 OMIM:618345 OMIM:604393 OMIM:268000 OMIM:617433 OMIM:618161 OMIM:618173 OMIM:209900 OMIM:600151 ORPHA:231183 OMIM:618144 OMIM:615982 OMIM:613194 OMIM:193220 ORPHA:67042 OMIM:605670 OMIM:610427 ORPHA:215 OMIM:300071 ORPHA:231169 OMIM:613660 OMIM:617547 OMIM:614500 ORPHA:180 OMIM:303100 OMIM:609913 OMIM:619977 OMIM:614180 OMIM:276902 OMIM:613756 OMIM:613767 OMIM:217080 OMIM:618150 OMIM:600105 OMIM:120970 ORPHA:166035 OMIM:250410 OMIM:210370 ORPHA:41751 OMIM:613861 ORPHA:86309 OMIM:616502 OMIM:618632 OMIM:602772 OMIM:606068 ORPHA:313855 OMIM:609033 ORPHA:88628 OMIM:607921 ORPHA:436274 OMIM:610444 OMIM:616389 OMIM:617024 OMIM:252940 OMIM:614565 ORPHA:75382 OMIM:613411 OMIM:257270 ORPHA:75377 OMIM:601777 OMIM:204000 OMIM:618555 ORPHA:5 OMIM:616544 OMIM:617460 OMIM:619614 ORPHA:79301 OMIM:619007 ORPHA:217093 ORPHA:217085 OMIM:617781 OMIM:619471 OMIM:616394 OMIM:615630 OMIM:180105 OMIM:613581 ORPHA:75858 OMIM:616079 OMIM:614186 OMIM:610356 OMIM:618613 OMIM:618955 ORPHA:364055 OMIM:613341 OMIM:615058 OMIM:614181 OMIM:613862 ORPHA:99947 OMIM:611040 OMIM:611543 ORPHA:14 OMIM:260920 OMIM:607821 OMIM:608553 OMIM:268100 OMIM:611131 OMIM:613750 OMIM:310500 ORPHA:414 OMIM:258870 OMIM:613428 OMIM:613810 OMIM:163500 OMIM:613801 ORPHA:772 OMIM:266500 ORPHA:773 OMIM:617123 ORPHA:1435 OMIM:612657 OMIM:612095 OMIM:601414 OMIM:600138 OMIM:615922 OMIM:600059 OMIM:136880 OMIM:169150 OMIM:608133 ORPHA:52427 OMIM:615233 ORPHA:436245 OMIM:617304 OMIM:610445 OMIM:613731 ORPHA:85128 OMIM:607475 OMIM:607476 OMIM:226960 OMIM:180100 OMIM:618826 OMIM:312600 OMIM:180104 OMIM:204100 OMIM:613794 OMIM:304020 OMIM:300029 OMIM:258100 OMIM:613758 OMIM:618195 OMIM:610283 OMIM:610282 OMIM:613830 OMIM:615725 OMIM:610359 OMIM:604232 OMIM:160565 ORPHA:59181 ORPHA:352530 OMIM:616959 OMIM:613216 OMIM:613464 ORPHA:96 OMIM:613843 OMIM:600132 OMIM:216550 OMIM:614378 OMIM:619418 OMIM:616469 OMIM:613617 OMIM:619321
 

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