Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Grandparent Node:
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Congenital stationary cone dysfunction (HP:0030637)help
Parent Node:
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Color vision defect (HP:0000551)help
..Starting node
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Dyschromatopsia (HP:0007641)help
Term ID: 7641
Name: Dyschromatopsia
Synonym: Color blindness; Colour blindness
Definition: A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.
Comments:
Reference: HP:0007641
Genes and Diseases:
 
       Child Nodes:
........expandRed-green dyschromatopsia (HP:0000642) help
................... HP:0011520 Deuteranomaly
................... HP:0011521 Deuteranopia
................... HP:0011522 Protanopia
................... HP:0200018 Protanomaly
........expandDichromacy (HP:0011518) help
................... HP:0011521 Deuteranopia
................... HP:0011522 Protanopia
........expandAnomalous trichromacy (HP:0011519) help
................... HP:0000552 Tritanomaly
................... HP:0011520 Deuteranomaly
................... HP:0200018 Protanomaly

 Sister Nodes: 
..expandColor vision test abnormality (HP:0030584) help
..expandMonochromacy (HP:0007803) 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:0007641HP:0007641Dyschromatopsia0ACO2 CL E G H50118OMIM:616289Optic atrophy 960
HP:0007641HP:0007641Dyschromatopsia0AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0007641HP:0007641Dyschromatopsia0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHYHP:0040283 - Occasional182
HP:0007641HP:0007641Dyschromatopsia0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0007641HP:0007641Dyschromatopsia0CEP78 CL E G H8413125740OMIM:617236CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL9
HP:0007641HP:0007641Dyschromatopsia0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0007641HP:0007641Dyschromatopsia0DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0007641HP:0007641Dyschromatopsia0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0007641HP:0007641Dyschromatopsia0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare24
HP:0007641HP:0007641Dyschromatopsia0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare124
HP:0007641HP:0007641Dyschromatopsia0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0007641HP:0007641Dyschromatopsia0GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0007641HP:0007641Dyschromatopsia0IMPG1 CL E G H36176055OMIM:153870Macular dystrophy, concentric annular.4
HP:0007641HP:0007641Dyschromatopsia0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0007641HP:0007641Dyschromatopsia0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0007641HP:0007641Dyschromatopsia0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0007641HP:0007641Dyschromatopsia0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0007641HP:0007641Dyschromatopsia0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0007641HP:0007641Dyschromatopsia0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0007641HP:0007641Dyschromatopsia0OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0007641HP:0007641Dyschromatopsia0OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0007641HP:0007641Dyschromatopsia0OPN1SW CL E G H6111012ORPHA:88629Tritanopia3
HP:0007641HP:0007641Dyschromatopsia0OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0007641HP:0007641Dyschromatopsia0PDE6C CL E G H51468787OMIM:613093Cone dystrophy 4.80
HP:0007641HP:0007641Dyschromatopsia0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A.14
HP:0007641HP:0007641Dyschromatopsia0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0007641HP:0007641Dyschromatopsia0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0007641HP:0007641Dyschromatopsia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessiveHP:0040283 - Occasional464
HP:0007641HP:0007641Dyschromatopsia0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0007641HP:0007641Dyschromatopsia0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040284 - Very rare159
HP:0007641HP:0007641Dyschromatopsia0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0007641HP:0007641Dyschromatopsia0TMEM126A CL E G H8423325382OMIM:612989Optic atrophy 7 with or without auditory neuropathy.23
HP:0007641HP:0011518Dichromacy1 CL E G H
HP:0007641HP:0000642Red-green dyschromatopsia1ACO2 CL E G H50118OMIM:616289Optic atrophy 9.60
HP:0007641HP:0000642Red-green dyschromatopsia1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0007641HP:0011519Anomalous trichromacy1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0007641HP:0011519Anomalous trichromacy1DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0007641HP:0000642Red-green dyschromatopsia1FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0007641HP:0011519Anomalous trichromacy1GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0007641HP:0000642Red-green dyschromatopsia1NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0007641HP:0011519Anomalous trichromacy1NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0007641HP:0011519Anomalous trichromacy1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0007641HP:0000642Red-green dyschromatopsia1OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0007641HP:0000642Red-green dyschromatopsia1OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0007641HP:0011519Anomalous trichromacy1OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy214
HP:0007641HP:0000642Red-green dyschromatopsia1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0007641HP:0011519Anomalous trichromacy1OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataract163
HP:0007641HP:0011519Anomalous trichromacy1OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0007641HP:0000642Red-green dyschromatopsia1OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series7
HP:0007641HP:0000642Red-green dyschromatopsia1OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0007641HP:0011519Anomalous trichromacy1OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series5
HP:0007641HP:0011519Anomalous trichromacy1OPN1SW CL E G H6111012ORPHA:88629Tritanopia3
HP:0007641HP:0011519Anomalous trichromacy1OPN1SW CL E G H6111012OMIM:190900TRITANOPIA3
HP:0007641HP:0011519Anomalous trichromacy1POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0007641HP:0011521Deuteranopia2 CL E G H
HP:0007641HP:0011522Protanopia2 CL E G H
HP:0007641HP:0000552Tritanomaly2C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0007641HP:0000552Tritanomaly2DNM1L CL E G H100592973OMIM:610708Optic atrophy 5.94
HP:0007641HP:0000552Tritanomaly2GUCY2D CL E G H30004689OMIM:618555NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I124
HP:0007641HP:0000552Tritanomaly2NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0007641HP:0000552Tritanomaly2OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0007641HP:0000552Tritanomaly2OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0007641HP:0000552Tritanomaly2OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040283 - Occasional163
HP:0007641HP:0200018Protanomaly2OPN1LW CL E G H59569936OMIM:303900Colorblindness, partial, protan series.7
HP:0007641HP:0011520Deuteranomaly2OPN1MW CL E G H26524206OMIM:303800Colorblindness, partial, deutan series.5
HP:0007641HP:0000552Tritanomaly2OPN1SW CL E G H6111012OMIM:190900TRITANOPIA.3
HP:0007641HP:0000552Tritanomaly2OPN1SW CL E G H6111012ORPHA:88629TritanopiaHP:0040282 - Frequent3
HP:0007641HP:0000552Tritanomaly2POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203


Genes (27) :ACO2 AFG3L2 BEST1 C1QTNF5 CEP78 CNGB3 DNM1L FGF14 GUCA1A GUCY2D IMPG1 MORC2 MTRFR NR2E3 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PDE6C PDE6H POC1B POLG PROM1 PRPH2 TK2 TMEM126A

Diseases (29) :OMIM:616289 OMIM:618977 OMIM:193220 ORPHA:67042 OMIM:617236 OMIM:262300 OMIM:610708 ORPHA:98764 ORPHA:75377 OMIM:601777 OMIM:618555 OMIM:153870 ORPHA:466768 ORPHA:254930 OMIM:611131 OMIM:165500 OMIM:125250 ORPHA:67036 OMIM:303900 OMIM:303800 ORPHA:88629 OMIM:190900 OMIM:613093 OMIM:610024 OMIM:615973 ORPHA:254886 OMIM:258450 OMIM:608051 OMIM:612989
 

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