Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of vision (HP:0000504)help
Grandparent Node:
expand
Congenital stationary cone dysfunction (HP:0030637)help
Parent Node:
expand
Color vision defect (HP:0000551)help
..Starting node
..expand
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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007641HP:0007641Dyschromatopsia0ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0007641Dyschromatopsia0ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0007641Dyschromatopsia0CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0007641Dyschromatopsia0CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0007641Dyschromatopsia0CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0007641Dyschromatopsia0CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0007641Dyschromatopsia0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0007641Dyschromatopsia0CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0007641Dyschromatopsia0GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0007641Dyschromatopsia0GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0007641Dyschromatopsia0OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0007641Dyschromatopsia0OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0007641Dyschromatopsia0PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0007641Dyschromatopsia0PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0007641Dyschromatopsia0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0007641Dyschromatopsia0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0007641Dyschromatopsia0PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0007641Dyschromatopsia0PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0007641Dyschromatopsia0PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0007641Dyschromatopsia0PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0007641Dyschromatopsia0PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0007641Dyschromatopsia0PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0007641Dyschromatopsia0RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0007641Dyschromatopsia0RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0007641Dyschromatopsia0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0007641Dyschromatopsia0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0011519Anomalous trichromacy1ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0011518Dichromacy1ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0000642Red-green dyschromatopsia1ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0000642Red-green dyschromatopsia1ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0011519Anomalous trichromacy1ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0011518Dichromacy1ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0000642Red-green dyschromatopsia1CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0011519Anomalous trichromacy1CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0011518Dichromacy1CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0011519Anomalous trichromacy1CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0011518Dichromacy1CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0000642Red-green dyschromatopsia1CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0011519Anomalous trichromacy1CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0011518Dichromacy1CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0000642Red-green dyschromatopsia1CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0000642Red-green dyschromatopsia1CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0011519Anomalous trichromacy1CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0011518Dichromacy1CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0000642Red-green dyschromatopsia1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0011519Anomalous trichromacy1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0011518Dichromacy1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0011519Anomalous trichromacy1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0011518Dichromacy1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0000642Red-green dyschromatopsia1CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0000642Red-green dyschromatopsia1GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0011519Anomalous trichromacy1GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0011518Dichromacy1GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0011519Anomalous trichromacy1GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0011518Dichromacy1GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0000642Red-green dyschromatopsia1GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0011519Anomalous trichromacy1OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0011518Dichromacy1OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0000642Red-green dyschromatopsia1OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0000642Red-green dyschromatopsia1OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0011519Anomalous trichromacy1OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0011518Dichromacy1OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0011518Dichromacy1PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0011519Anomalous trichromacy1PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0011519Anomalous trichromacy1PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0011518Dichromacy1PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0011519Anomalous trichromacy1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0011518Dichromacy1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0011519Anomalous trichromacy1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0011518Dichromacy1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0011519Anomalous trichromacy1PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0011518Dichromacy1PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0011518Dichromacy1PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0011519Anomalous trichromacy1PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0011519Anomalous trichromacy1PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0011518Dichromacy1PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0011519Anomalous trichromacy1PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0011518Dichromacy1PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0000642Red-green dyschromatopsia1PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0011519Anomalous trichromacy1PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0011518Dichromacy1PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0000642Red-green dyschromatopsia1PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0000642Red-green dyschromatopsia1PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0011519Anomalous trichromacy1PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0011518Dichromacy1PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0011518Dichromacy1RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0011519Anomalous trichromacy1RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0000642Red-green dyschromatopsia1RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0000642Red-green dyschromatopsia1RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0011518Dichromacy1RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0011519Anomalous trichromacy1RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0011519Anomalous trichromacy1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0011518Dichromacy1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0000642Red-green dyschromatopsia1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0000642Red-green dyschromatopsia1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0011519Anomalous trichromacy1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0011518Dichromacy1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0200018Protanomaly2ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0011522Protanopia2ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0011520Deuteranomaly2ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0000552Tritanomaly2ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0011521Deuteranopia2ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0011520Deuteranomaly2ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0000552Tritanomaly2ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0011521Deuteranopia2ATF6 CL E G H2292649382ORPHA1178791605537
HP:0007641HP:0200018Protanomaly2ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0011522Protanopia2ATF6 CL E G H2292649382ORPHA1246791605537
HP:0007641HP:0011520Deuteranomaly2CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0000552Tritanomaly2CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0011521Deuteranopia2CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0200018Protanomaly2CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0011522Protanopia2CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0200018Protanomaly2CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0011522Protanopia2CNGA3 CL E G H126149382ORPHA13982150600053
HP:0007641HP:0011520Deuteranomaly2CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0000552Tritanomaly2CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0011521Deuteranopia2CNGA3 CL E G H126149382ORPHA14972150600053
HP:0007641HP:0200018Protanomaly2CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0011522Protanopia2CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0011520Deuteranomaly2CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0000552Tritanomaly2CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0011521Deuteranopia2CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0011520Deuteranomaly2CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0000552Tritanomaly2CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0011521Deuteranopia2CNGB3 CL E G H5471449382ORPHA15902153605080
HP:0007641HP:0200018Protanomaly2CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0011522Protanopia2CNGB3 CL E G H5471449382ORPHA17002153605080
HP:0007641HP:0011520Deuteranomaly2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0000552Tritanomaly2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0011521Deuteranopia2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0200018Protanomaly2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0011522Protanopia2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0200018Protanomaly2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0011522Protanopia2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM15902153605080
HP:0007641HP:0011520Deuteranomaly2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0000552Tritanomaly2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0011521Deuteranopia2CNGB3 CL E G H54714262300Achromatopsia 3262300C1849792OMIM17002153605080
HP:0007641HP:0011520Deuteranomaly2GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0000552Tritanomaly2GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0011521Deuteranopia2GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0200018Protanomaly2GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0011522Protanopia2GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0200018Protanomaly2GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0011522Protanopia2GNAT2 CL E G H278049382ORPHA11314394139340
HP:0007641HP:0011520Deuteranomaly2GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0000552Tritanomaly2GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0011521Deuteranopia2GNAT2 CL E G H278049382ORPHA11584394139340
HP:0007641HP:0011522Protanopia2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0200018Protanomaly2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0011520Deuteranomaly2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0000552Tritanomaly2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0011521Deuteranopia2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0011520Deuteranomaly2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0000552Tritanomaly2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0011521Deuteranopia2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11211012613522
HP:0007641HP:0011522Protanopia2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0200018Protanomaly2OPN1SW CL E G H611190900Tritanopia190900C0155017OMIM11771012613522
HP:0007641HP:0200018Protanomaly2PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0011522Protanopia2PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0011520Deuteranomaly2PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0000552Tritanomaly2PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0011521Deuteranopia2PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0011520Deuteranomaly2PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0000552Tritanomaly2PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0011521Deuteranopia2PDE6C CL E G H514649382ORPHA13298787600827
HP:0007641HP:0200018Protanomaly2PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0011522Protanopia2PDE6C CL E G H514649382ORPHA14108787600827
HP:0007641HP:0011520Deuteranomaly2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0000552Tritanomaly2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0011521Deuteranopia2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0200018Protanomaly2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0011522Protanopia2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0200018Protanomaly2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0011522Protanopia2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007641HP:0011520Deuteranomaly2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0000552Tritanomaly2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0011521Deuteranopia2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007641HP:0011520Deuteranomaly2PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0000552Tritanomaly2PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0011521Deuteranopia2PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0200018Protanomaly2PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0011522Protanopia2PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0200018Protanomaly2PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0011522Protanopia2PDE6H CL E G H514949382ORPHA1748790601190
HP:0007641HP:0011520Deuteranomaly2PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0000552Tritanomaly2PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0011521Deuteranopia2PDE6H CL E G H514949382ORPHA1808790601190
HP:0007641HP:0011520Deuteranomaly2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0000552Tritanomaly2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0011521Deuteranopia2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0200018Protanomaly2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0011522Protanopia2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0200018Protanomaly2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0011522Protanopia2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007641HP:0011520Deuteranomaly2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0000552Tritanomaly2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0011521Deuteranopia2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007641HP:0200018Protanomaly2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0011522Protanopia2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0011520Deuteranomaly2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0000552Tritanomaly2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0011521Deuteranopia2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0011520Deuteranomaly2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0000552Tritanomaly2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0011521Deuteranopia2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007641HP:0200018Protanomaly2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0011522Protanopia2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007641HP:0200018Protanomaly2RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0011522Protanopia2RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0011520Deuteranomaly2RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0000552Tritanomaly2RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0011521Deuteranopia2RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0011520Deuteranomaly2RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0000552Tritanomaly2RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0011521Deuteranopia2RPGR CL E G H610349382ORPHA180210295312610
HP:0007641HP:0200018Protanomaly2RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0011522Protanopia2RPGR CL E G H610349382ORPHA184710295312610
HP:0007641HP:0200018Protanomaly2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0011522Protanopia2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0011520Deuteranomaly2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0000552Tritanomaly2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0011521Deuteranopia2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0011520Deuteranomaly2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0000552Tritanomaly2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0011521Deuteranopia2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007641HP:0200018Protanomaly2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007641HP:0011522Protanopia2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007641HP:0007641Dyschromatopsia0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0007641Dyschromatopsia0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0007641Dyschromatopsia0POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0007641Dyschromatopsia0POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0007641Dyschromatopsia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0007641Dyschromatopsia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0007641Dyschromatopsia0TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0007641Dyschromatopsia0TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0000642Red-green dyschromatopsia1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0011519Anomalous trichromacy1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0011518Dichromacy1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0011519Anomalous trichromacy1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0011518Dichromacy1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0000642Red-green dyschromatopsia1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0000642Red-green dyschromatopsia1POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0011518Dichromacy1POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0011519Anomalous trichromacy1POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0011518Dichromacy1POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0011519Anomalous trichromacy1POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0000642Red-green dyschromatopsia1POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0011519Anomalous trichromacy1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0011518Dichromacy1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0000642Red-green dyschromatopsia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0000642Red-green dyschromatopsia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0011519Anomalous trichromacy1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0011518Dichromacy1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0011518Dichromacy1TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0011519Anomalous trichromacy1TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0000642Red-green dyschromatopsia1TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0000642Red-green dyschromatopsia1TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0011518Dichromacy1TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0011519Anomalous trichromacy1TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0011520Deuteranomaly2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0000552Tritanomaly2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0011521Deuteranopia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0011522Protanopia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0200018Protanomaly2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0011522Protanopia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0200018Protanomaly2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM049912703607854
HP:0007641HP:0011520Deuteranomaly2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0000552Tritanomaly2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0011521Deuteranopia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM059512703607854
HP:0007641HP:0011520Deuteranomaly2POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0000552Tritanomaly2POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0011521Deuteranopia2POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0200018Protanomaly2POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0011522Protanopia2POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0200018Protanomaly2POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0011522Protanopia2POLG CL E G H5428254886ORPHA014709179174763
HP:0007641HP:0011520Deuteranomaly2POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0000552Tritanomaly2POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0011521Deuteranopia2POLG CL E G H5428254886ORPHA017129179174763
HP:0007641HP:0200018Protanomaly2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0011522Protanopia2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0011520Deuteranomaly2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0000552Tritanomaly2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0011521Deuteranopia2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0011520Deuteranomaly2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0000552Tritanomaly2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0011521Deuteranopia2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM014709179174763
HP:0007641HP:0011522Protanopia2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0200018Protanomaly2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM017129179174763
HP:0007641HP:0200018Protanomaly2TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0011522Protanopia2TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0011520Deuteranomaly2TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0000552Tritanomaly2TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0011521Deuteranopia2TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0000552Tritanomaly2TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0011521Deuteranopia2TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0011520Deuteranomaly2TK2 CL E G H7084254886ORPHA023011831188250
HP:0007641HP:0200018Protanomaly2TK2 CL E G H7084254886ORPHA029911831188250
HP:0007641HP:0011522Protanopia2TK2 CL E G H7084254886ORPHA029911831188250


Genes (21) :ACO2 ATF6 BEST1 CNGA3 CNGB3 DNM1L FGF14 GNAT2 NR2E3 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PDE6C PDE6H POLG PROM1 RPGR TK2 TMEM126A

Diseases (19) :49382 193220 262300 190900 613093 610024 254886 258450 608051 612989 616289 98764 611131 125250 165500 67036 610708 303900 303800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.