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
Parent Node:
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Congenital stationary cone dysfunction (HP:0030637)help
..Starting node
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Color vision defect (HP:0000551)help
Term ID: 551
Name: Color vision defect
Synonym: Abnormal color vision; Abnormal colour vision; Abnormality of color vision; Abnormality of colour vision; Color vision defect, severe; Color vision defects; Colour vision defect; Colour vision defect, severe; Colour vision defects; Disturbed color vision; Loss in color vision; Loss in colour vision
Definition: An anomaly in the ability to discriminate between or recognize colors.
Comments:
Reference: HP:0000551
Genes and Diseases:
 
       Child Nodes:
........expandDyschromatopsia (HP:0007641) help
................... HP:0000642 Red-green dyschromatopsia
................... HP:0011518 Dichromacy
................... HP:0011519 Anomalous trichromacy
........expandMonochromacy (HP:0007803) help
................... HP:0011516 Achromatopsia
................... HP:0011517 Cone monochromacy
........expandColor vision test abnormality (HP:0030584) help
................... HP:0030585 Red desaturation
................... HP:0030586 Abnormal Ishihara plate test
................... HP:0030587 Abnormal Hardy-Rand-Rittler plate test

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H2434ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent826
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0000551HP:0000551Color vision defect0ACO2 CL E G H50118OMIM:616289Optic atrophy 960
HP:0000551HP:0000551Color vision defect0ADAM9 CL E G H8754216ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent41
HP:0000551HP:0000551Color vision defect0AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0000551HP:0000551Color vision defect0AIPL1 CL E G H23746359ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent114
HP:0000551HP:0000551Color vision defect0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0000551HP:0000551Color vision defect0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0000551HP:0000551Color vision defect0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040281 - Very frequent10
HP:0000551HP:0000551Color vision defect0ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0000551HP:0000551Color vision defect0ATF6 CL E G H22926791ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent10
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent182
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H743912703ORPHA:1243Best vitelliform macular dystrophyHP:0040282 - Frequent182
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000551HP:0000551Color vision defect0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0000551HP:0000551Color vision defect0CABP4 CL E G H570101386OMIM:610427Cone-Rod synaptic disorder, congenital nonprogressiveHP:0040283 - Occasional94
HP:0000551HP:0000551Color vision defect0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare94
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H7781393ORPHA:178333Ă…land Islands eye diseaseHP:0040281 - Very frequent58
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H7781393ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent58
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 358
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare58
HP:0000551HP:0000551Color vision defect0CACNA2D4 CL E G H9358920202ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent129
HP:0000551HP:0000551Color vision defect0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare129
HP:0000551HP:0000551Color vision defect0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H9221114550ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent147
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0000551HP:0000551Color vision defect0CEP78 CL E G H8413125740OMIM:617236CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL9
HP:0000551HP:0000551Color vision defect0CFAP410 CL E G H7551260ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent
HP:0000551HP:0000551Color vision defect0CFAP418 CL E G H15765727232ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent
HP:0000551HP:0000551Color vision defect0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0000551HP:0000551Color vision defect0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040281 - Very frequent82
HP:0000551HP:0000551Color vision defect0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0000551HP:0000551Color vision defect0CNGA3 CL E G H12612150ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent82
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040281 - Very frequent194
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3194
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H547142153ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent194
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0000551HP:0000551Color vision defect0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000551HP:0000551Color vision defect0CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040281 - Very frequent61
HP:0000551HP:0000551Color vision defect0CRX CL E G H14062383ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent158
HP:0000551HP:0000551Color vision defect0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0000551HP:0000551Color vision defect0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0000551HP:0000551Color vision defect0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0000551HP:0000551Color vision defect0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000551HP:0000551Color vision defect0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040282 - Frequent94
HP:0000551HP:0000551Color vision defect0DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0000551HP:0000551Color vision defect0DRAM2 CL E G H12833828769ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent9
HP:0000551HP:0000551Color vision defect0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000551HP:0000551Color vision defect0ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0000551HP:0000551Color vision defect0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0000551HP:0000551Color vision defect0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0000551HP:0000551Color vision defect0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0000551HP:0000551Color vision defect0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0000551HP:0000551Color vision defect0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0000551HP:0000551Color vision defect0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0000551HP:0000551Color vision defect0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000551HP:0000551Color vision defect0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare39
HP:0000551HP:0000551Color vision defect0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040281 - Very frequent19
HP:0000551HP:0000551Color vision defect0GNAT2 CL E G H27804394OMIM:613856ACHROMATOPSIA 4; ACHM419
HP:0000551HP:0000551Color vision defect0GNAT2 CL E G H27804394ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent19
HP:0000551HP:0000551Color vision defect0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare5
HP:0000551HP:0000551Color vision defect0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare124
HP:0000551HP:0000551Color vision defect0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare4
HP:0000551HP:0000551Color vision defect0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare63
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29784678ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent24
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29784678ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent24
HP:0000551HP:0000551Color vision defect0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0000551HP:0000551Color vision defect0GUCY2D CL E G H30004689ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent124
HP:0000551HP:0000551Color vision defect0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0000551HP:0000551Color vision defect0GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0000551HP:0000551Color vision defect0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0000551HP:0000551Color vision defect0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0000551HP:0000551Color vision defect0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0000551HP:0000551Color vision defect0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0000551HP:0000551Color vision defect0IMPG1 CL E G H36176055ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent4
HP:0000551HP:0000551Color vision defect0IMPG1 CL E G H36176055OMIM:153870Macular dystrophy, concentric annular4
HP:0000551HP:0000551Color vision defect0IMPG2 CL E G H5093918362ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent120
HP:0000551HP:0000551Color vision defect0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0000551HP:0000551Color vision defect0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0000551HP:0000551Color vision defect0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare54
HP:0000551HP:0000551Color vision defect0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000551HP:0000551Color vision defect0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0000551HP:0000551Color vision defect0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0000551HP:0000551Color vision defect0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0000551HP:0000551Color vision defect0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0000551HP:0000551Color vision defect0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly25
HP:0000551HP:0000551Color vision defect0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0000551HP:0000551Color vision defect0NMNAT1 CL E G H6480217877ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent15
HP:0000551HP:0000551Color vision defect0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000551HP:0000551Color vision defect0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0000551HP:0000551Color vision defect0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare42
HP:0000551HP:0000551Color vision defect0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23.201
HP:0000551HP:0000551Color vision defect0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040282 - Frequent214
HP:0000551HP:0000551Color vision defect0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000551HP:0000551Color vision defect0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0000551HP:0000551Color vision defect0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0000551HP:0000551Color vision defect0OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy7
HP:0000551HP:0000551Color vision defect0OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatism7
HP:0000551HP:0000551Color vision defect0OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0000551HP:0000551Color vision defect0OPN1LW CL E G H59569936ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent7
HP:0000551HP:0000551Color vision defect0OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy5
HP:0000551HP:0000551Color vision defect0OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatism5
HP:0000551HP:0000551Color vision defect0OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0000551HP:0000551Color vision defect0OPN1MW CL E G H26524206ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent5
HP:0000551HP:0000551Color vision defect0OPN1SW CL E G H6111012ORPHA:88629Tritanopia3
HP:0000551HP:0000551Color vision defect0OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0000551HP:0000551Color vision defect0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0000551HP:0000551Color vision defect0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare126
HP:0000551HP:0000551Color vision defect0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040281 - Very frequent80
HP:0000551HP:0000551Color vision defect0PDE6C CL E G H51468787OMIM:613093Cone dystrophy 480
HP:0000551HP:0000551Color vision defect0PDE6C CL E G H51468787ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent80
HP:0000551HP:0000551Color vision defect0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040281 - Very frequent14
HP:0000551HP:0000551Color vision defect0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A14
HP:0000551HP:0000551Color vision defect0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H8339421043ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent135
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5.135
HP:0000551HP:0000551Color vision defect0POC1B CL E G H28280930836ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent3
HP:0000551HP:0000551Color vision defect0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 20.3
HP:0000551HP:0000551Color vision defect0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000551HP:0000551Color vision defect0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0000551HP:0000551Color vision defect0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0000551HP:0000551Color vision defect0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0000551HP:0000551Color vision defect0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0000551HP:0000551Color vision defect0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H88429454ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent110
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H88429454OMIM:612657CONE-ROD DYSTROPHY 12; CORD12110
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2110
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H59619942ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040282 - Frequent159
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H59619942ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent159
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0000551HP:0000551Color vision defect0RAB28 CL E G H93649768ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent6
HP:0000551HP:0000551Color vision defect0RAX2 CL E G H8483918286ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent52
HP:0000551HP:0000551Color vision defect0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare107
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H2299917282ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent102
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H2299917282OMIM:603649CONE-ROD DYSTROPHY 7; CORD7102
HP:0000551HP:0000551Color vision defect0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040281 - Very frequent47
HP:0000551HP:0000551Color vision defect0RLBP1 CL E G H601710024OMIM:607476NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD47
HP:0000551HP:0000551Color vision defect0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0000551HP:0000551Color vision defect0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040281 - Very frequent200
HP:0000551HP:0000551Color vision defect0RPGR CL E G H610310295ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent200
HP:0000551HP:0000551Color vision defect0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0000551HP:0000551Color vision defect0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H5709613436ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent109
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H5709613436OMIM:608194CONE-ROD DYSTROPHY 13; CORD13109
HP:0000551HP:0000551Color vision defect0RTN4IP1 CL E G H8481618647OMIM:616732OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA102
HP:0000551HP:0000551Color vision defect0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare32
HP:0000551HP:0000551Color vision defect0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0000551HP:0000551Color vision defect0SEMA4A CL E G H6421810729ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent48
HP:0000551HP:0000551Color vision defect0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare66
HP:0000551HP:0000551Color vision defect0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000551HP:0000551Color vision defect0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0000551HP:0000551Color vision defect0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0000551HP:0000551Color vision defect0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0000551HP:0000551Color vision defect0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0000551HP:0000551Color vision defect0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0000551HP:0000551Color vision defect0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0000551HP:0000551Color vision defect0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0000551HP:0000551Color vision defect0TLCD3B CL E G H8372325295ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent
HP:0000551HP:0000551Color vision defect0TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy23
HP:0000551HP:0000551Color vision defect0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare104
HP:0000551HP:0000551Color vision defect0TTLL5 CL E G H2309319963ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent9
HP:0000551HP:0000551Color vision defect0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0000551HP:0000551Color vision defect0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0000551HP:0000551Color vision defect0UNC119 CL E G H909412565ORPHA:1872Cone rod dystrophyHP:0040282 - Frequent30
HP:0000551HP:0000551Color vision defect0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000551HP:0000551Color vision defect0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040283 - Occasional10
HP:0000551HP:0007641Dyschromatopsia1ACO2 CL E G H50118OMIM:616289Optic atrophy 960
HP:0000551HP:0030584Color vision test abnormality1AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0000551HP:0007641Dyschromatopsia1AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0000551HP:0007803Monochromacy1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040281 - Very frequent10
HP:0000551HP:0030584Color vision test abnormality1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040281 - Very frequent10
HP:0000551HP:0007803Monochromacy1ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0000551HP:0007641Dyschromatopsia1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHYHP:0040283 - Occasional182
HP:0000551HP:0007641Dyschromatopsia1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0000551HP:0007641Dyschromatopsia1CEP78 CL E G H8413125740OMIM:617236CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL9
HP:0000551HP:0007803Monochromacy1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040281 - Very frequent82
HP:0000551HP:0030584Color vision test abnormality1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040281 - Very frequent82
HP:0000551HP:0007803Monochromacy1CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0000551HP:0007803Monochromacy1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040281 - Very frequent194
HP:0000551HP:0030584Color vision test abnormality1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040281 - Very frequent194
HP:0000551HP:0007641Dyschromatopsia1CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0000551HP:0007803Monochromacy1CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0000551HP:0007803Monochromacy1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome.61
HP:0000551HP:0007641Dyschromatopsia1DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0000551HP:0030584Color vision test abnormality1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0000551HP:0007641Dyschromatopsia1FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0000551HP:0007803Monochromacy1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040281 - Very frequent19
HP:0000551HP:0030584Color vision test abnormality1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040281 - Very frequent19
HP:0000551HP:0007803Monochromacy1GNAT2 CL E G H27804394OMIM:613856ACHROMATOPSIA 4; ACHM419
HP:0000551HP:0007641Dyschromatopsia1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare24
HP:0000551HP:0007641Dyschromatopsia1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare124
HP:0000551HP:0007641Dyschromatopsia1GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0000551HP:0007641Dyschromatopsia1GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0000551HP:0007641Dyschromatopsia1IMPG1 CL E G H36176055OMIM:153870Macular dystrophy, concentric annular.4
HP:0000551HP:0007641Dyschromatopsia1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0000551HP:0007641Dyschromatopsia1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0000551HP:0007803Monochromacy1NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly25
HP:0000551HP:0007641Dyschromatopsia1NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0000551HP:0007641Dyschromatopsia1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000551HP:0007641Dyschromatopsia1OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0000551HP:0007641Dyschromatopsia1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0000551HP:0007803Monochromacy1OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy7
HP:0000551HP:0007803Monochromacy1OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatism7
HP:0000551HP:0007641Dyschromatopsia1OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0000551HP:0007803Monochromacy1OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy5
HP:0000551HP:0007803Monochromacy1OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatism5
HP:0000551HP:0007641Dyschromatopsia1OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0000551HP:0030584Color vision test abnormality1OPN1SW CL E G H6111012ORPHA:88629TritanopiaHP:0040282 - Frequent3
HP:0000551HP:0007641Dyschromatopsia1OPN1SW CL E G H6111012ORPHA:88629Tritanopia3
HP:0000551HP:0007641Dyschromatopsia1OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0000551HP:0007803Monochromacy1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040281 - Very frequent80
HP:0000551HP:0030584Color vision test abnormality1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040281 - Very frequent80
HP:0000551HP:0007641Dyschromatopsia1PDE6C CL E G H51468787OMIM:613093Cone dystrophy 4.80
HP:0000551HP:0007803Monochromacy1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040281 - Very frequent14
HP:0000551HP:0030584Color vision test abnormality1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040281 - Very frequent14
HP:0000551HP:0007641Dyschromatopsia1PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A.14
HP:0000551HP:0007641Dyschromatopsia1POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0000551HP:0007641Dyschromatopsia1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0000551HP:0007641Dyschromatopsia1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessiveHP:0040283 - Occasional464
HP:0000551HP:0007641Dyschromatopsia1PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0000551HP:0007641Dyschromatopsia1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare159
HP:0000551HP:0007803Monochromacy1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040281 - Very frequent200
HP:0000551HP:0030584Color vision test abnormality1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040281 - Very frequent200
HP:0000551HP:0007641Dyschromatopsia1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0000551HP:0007641Dyschromatopsia1TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy.23
HP:0000551HP:0011518Dichromacy2 CL E G H
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2 CL E G H
HP:0000551HP:0030585Red desaturation2 CL E G H
HP:0000551HP:0000642Red-green dyschromatopsia2ACO2 CL E G H50118OMIM:616289Optic atrophy 9.60
HP:0000551HP:0030586Abnormal Ishihara plate test2AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0000551HP:0011516Achromatopsia2ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0000551HP:0000642Red-green dyschromatopsia2C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0000551HP:0011519Anomalous trichromacy2C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0000551HP:0011516Achromatopsia2CNGA3 CL E G H12612150OMIM:216900Achromatopsia 2.82
HP:0000551HP:0011516Achromatopsia2CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0000551HP:0011519Anomalous trichromacy2DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0000551HP:0000642Red-green dyschromatopsia2FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0000551HP:0011516Achromatopsia2GNAT2 CL E G H27804394OMIM:613856ACHROMATOPSIA 4; ACHM419
HP:0000551HP:0011519Anomalous trichromacy2GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0000551HP:0011516Achromatopsia2NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000551HP:0011519Anomalous trichromacy2NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0000551HP:0000642Red-green dyschromatopsia2NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000551HP:0000642Red-green dyschromatopsia2OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0000551HP:0011519Anomalous trichromacy2OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0000551HP:0011519Anomalous trichromacy2OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0000551HP:0000642Red-green dyschromatopsia2OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000551HP:0000642Red-green dyschromatopsia2OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0000551HP:0011519Anomalous trichromacy2OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0000551HP:0011517Cone monochromacy2OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy7
HP:0000551HP:0011517Cone monochromacy2OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatism7
HP:0000551HP:0000642Red-green dyschromatopsia2OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0000551HP:0011519Anomalous trichromacy2OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0000551HP:0011517Cone monochromacy2OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy5
HP:0000551HP:0011517Cone monochromacy2OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatism5
HP:0000551HP:0011519Anomalous trichromacy2OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0000551HP:0000642Red-green dyschromatopsia2OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0000551HP:0011519Anomalous trichromacy2OPN1SW CL E G H6111012ORPHA:88629Tritanopia3
HP:0000551HP:0011519Anomalous trichromacy2OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0000551HP:0011519Anomalous trichromacy2POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0000551HP:0011521Deuteranopia3 CL E G H
HP:0000551HP:0011522Protanopia3 CL E G H
HP:0000551HP:0000552Tritanomaly3C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0000551HP:0000552Tritanomaly3DNM1L CL E G H100592973OMIM:610708Optic atrophy 5.94
HP:0000551HP:0000552Tritanomaly3GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0000551HP:0000552Tritanomaly3NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0000551HP:0000552Tritanomaly3OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0000551HP:0000552Tritanomaly3OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000551HP:0000552Tritanomaly3OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0000551HP:0007939Blue cone monochromacy3OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy.7
HP:0000551HP:0007939Blue cone monochromacy3OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatismHP:0040281 - Very frequent7
HP:0000551HP:0200018Protanomaly3OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series.7
HP:0000551HP:0007939Blue cone monochromacy3OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy.5
HP:0000551HP:0007939Blue cone monochromacy3OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatismHP:0040281 - Very frequent5
HP:0000551HP:0011520Deuteranomaly3OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series.5
HP:0000551HP:0000552Tritanomaly3OPN1SW CL E G H6111012ORPHA:88629TritanopiaHP:0040282 - Frequent3
HP:0000551HP:0000552Tritanomaly3OPN1SW CL E G H6111012OMIM:190900TRITANOPIA.3
HP:0000551HP:0000552Tritanomaly3POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203


Genes (114) :ABCA4 ACO2 ADAM9 AFG3L2 AIPL1 ALDH3A2 ANOS1 ATF6 BEST1 C1QTNF5 CABP4 CACNA1F CACNA2D4 CCDC141 CDHR1 CEP78 CFAP410 CFAP418 CHD7 CNGA3 CNGB3 CNNM4 CRX CYP4V2 DCC DNAJC6 DNM1L DRAM2 DUSP6 ELOVL4 FA2H FEZF1 FGF14 FGF17 FGF8 FGFR1 FLRT3 GNAT1 GNAT2 GNB3 GPR179 GRK1 GRM6 GUCA1A GUCY2D HESX1 HS6ST1 HTRA2 IL17RD IMPG1 IMPG2 LCA5 LRAT LRIT3 LRRK2 MFN2 MORC2 MTRFR MTTP NBAS NDNF NMNAT1 NR2E3 NYX OFD1 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PARK7 PDE6B PDE6C PDE6H PINK1 PITPNM3 POC1B PODXL POLG PRKN PROK2 PROKR2 PROM1 PRPH2 RAB28 RAX2 RHO RIMS1 RLBP1 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SEMA3A SEMA4A SLC24A1 SNCA SOX10 SPATA7 SPRY4 SYNJ1 TACR3 TIMM8A TK2 TLCD3B TMEM126A TRPM1 TTLL5 TULP1 UCHL1 UNC119 VPS13C WDR11

Diseases (72) :ORPHA:1872 OMIM:604116 ORPHA:827 OMIM:616289 OMIM:618977 OMIM:270200 ORPHA:478 ORPHA:49382 OMIM:616517 ORPHA:99000 ORPHA:1243 OMIM:193220 ORPHA:67042 OMIM:610427 ORPHA:215 ORPHA:178333 OMIM:300476 OMIM:613660 OMIM:617236 OMIM:216900 OMIM:262300 ORPHA:1871 OMIM:217080 ORPHA:1873 OMIM:120970 ORPHA:41751 ORPHA:2828 ORPHA:98673 OMIM:610708 ORPHA:329308 ORPHA:98764 OMIM:613856 ORPHA:75377 OMIM:601777 OMIM:618555 OMIM:153870 ORPHA:364055 OMIM:601152 ORPHA:466768 ORPHA:254930 ORPHA:14 OMIM:614800 OMIM:608553 OMIM:611131 OMIM:300424 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:303700 ORPHA:16 OMIM:303900 OMIM:303800 ORPHA:88629 OMIM:190900 OMIM:613093 OMIM:610024 OMIM:600977 OMIM:615973 ORPHA:254886 OMIM:258450 OMIM:612657 OMIM:608051 OMIM:603649 ORPHA:85128 OMIM:607476 OMIM:304020 OMIM:300029 OMIM:608194 OMIM:616732 ORPHA:52368 OMIM:612989 OMIM:613843
 

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