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; Abnormality of color vision; Abnormality of colour vision; Color vision defect, severe; Color vision defects; Colour vision defect; Loss in color 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1128034601691
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H241872DiphalliaORPHA1128034601691
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1128034601691
HP:0000551HP:0000551Color vision defect0ADAM9 CL E G H87541872DiphalliaORPHA111216602713
HP:0000551HP:0000551Color vision defect0AIPL1 CL E G H237461872DiphalliaORPHA179359604392
HP:0000551HP:0000551Color vision defect0ATF6 CL E G H229261872DiphalliaORPHA116791605537
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H743999000ORPHA131912703607854
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H74391243ORPHA131912703607854
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131912703607854
HP:0000551HP:0000551Color vision defect0C8orf37 CL E G H1576571872DiphalliaORPHA11727232614477
HP:0000551HP:0000551Color vision defect0CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM1101375114760
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H778178333ORPHA11851393300110
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11851393300110
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H7781872DiphalliaORPHA11851393300110
HP:0000551HP:0000551Color vision defect0CACNA2D4 CL E G H935891872DiphalliaORPHA1920202608171
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM14914550609502
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H922111872DiphalliaORPHA14914550609502
HP:0000551HP:0000551Color vision defect0CNGA3 CL E G H12611872DiphalliaORPHA11522150600053
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11262153605080
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11262153605080
HP:0000551HP:0000551Color vision defect0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124105607805
HP:0000551HP:0000551Color vision defect0CRX CL E G H14061872DiphalliaORPHA11072383602225
HP:0000551HP:0000551Color vision defect0DRAM2 CL E G H1283381872DiphalliaORPHA11028769613360
HP:0000551HP:0000551Color vision defect0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11714415605512
HP:0000551HP:0000551Color vision defect0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1164394139340
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1234678600364
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29781872DiphalliaORPHA1234678600364
HP:0000551HP:0000551Color vision defect0GUCY2D CL E G H30001872DiphalliaORPHA12434689600179
HP:0000551HP:0000551Color vision defect0IMPG1 CL E G H361799000ORPHA1116055602870
HP:0000551HP:0000551Color vision defect0IMPG2 CL E G H5093999000ORPHA14218362607056
HP:0000551HP:0000551Color vision defect0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123116877608507
HP:0000551HP:0000551Color vision defect0NMNAT1 CL E G H648021872DiphalliaORPHA17617877608700
HP:0000551HP:0000551Color vision defect0OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM11622567300170
HP:0000551HP:0000551Color vision defect0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13948140605290
HP:0000551HP:0000551Color vision defect0OPN1LW CL E G H59561872DiphalliaORPHA1639936300822
HP:0000551HP:0000551Color vision defect0OPN1MW CL E G H26521872DiphalliaORPHA1214206300821
HP:0000551HP:0000551Color vision defect0PCYT1A CL E G H513085167ORPHA1208754123695
HP:0000551HP:0000551Color vision defect0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1588787600827
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1721043608921
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H833941872DiphalliaORPHA1721043608921
HP:0000551HP:0000551Color vision defect0POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM1730836614784
HP:0000551HP:0000551Color vision defect0POC1B CL E G H2828091872DiphalliaORPHA1730836614784
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H88421872DiphalliaORPHA1839454604365
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1839454604365
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H596199000ORPHA11819942179605
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H59611872DiphalliaORPHA11819942179605
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11819942179605
HP:0000551HP:0000551Color vision defect0RAB28 CL E G H93641872DiphalliaORPHA169768612994
HP:0000551HP:0000551Color vision defect0RAX2 CL E G H848391872DiphalliaORPHA1418286610362
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM11217282606629
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H229991872DiphalliaORPHA11217282606629
HP:0000551HP:0000551Color vision defect0RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM13710024180090
HP:0000551HP:0000551Color vision defect0RPGR CL E G H61031872DiphalliaORPHA124510295312610
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114913436605446
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H570961872DiphalliaORPHA114913436605446
HP:0000551HP:0000551Color vision defect0SEMA4A CL E G H642181872DiphalliaORPHA11710729607292
HP:0000551HP:0000551Color vision defect0TTLL5 CL E G H230931872DiphalliaORPHA11219963612268
HP:0000551HP:0000551Color vision defect0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17512423602280
HP:0000551HP:0000551Color vision defect0UNC119 CL E G H90941872DiphalliaORPHA1512565604011
HP:0000551HP:0000551Color vision defect1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1128034601691
HP:0000551HP:0000551Color vision defect1ABCA4 CL E G H241872DiphalliaORPHA1128034601691
HP:0000551HP:0000551Color vision defect1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1128034601691
HP:0000551HP:0000551Color vision defect1ADAM9 CL E G H87541872DiphalliaORPHA111216602713
HP:0000551HP:0000551Color vision defect1AIPL1 CL E G H237461872DiphalliaORPHA179359604392
HP:0000551HP:0000551Color vision defect1ATF6 CL E G H229261872DiphalliaORPHA116791605537
HP:0000551HP:0000551Color vision defect1BEST1 CL E G H74391243ORPHA131912703607854
HP:0000551HP:0000551Color vision defect1BEST1 CL E G H743999000ORPHA131912703607854
HP:0000551HP:0000551Color vision defect1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131912703607854
HP:0000551HP:0000551Color vision defect1C8orf37 CL E G H1576571872DiphalliaORPHA11727232614477
HP:0000551HP:0000551Color vision defect1CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM1101375114760
HP:0000551HP:0000551Color vision defect1CACNA1F CL E G H778178333ORPHA11851393300110
HP:0000551HP:0000551Color vision defect1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11851393300110
HP:0000551HP:0000551Color vision defect1CACNA1F CL E G H7781872DiphalliaORPHA11851393300110
HP:0000551HP:0000551Color vision defect1CACNA2D4 CL E G H935891872DiphalliaORPHA1920202608171
HP:0000551HP:0000551Color vision defect1CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM14914550609502
HP:0000551HP:0000551Color vision defect1CDHR1 CL E G H922111872DiphalliaORPHA14914550609502
HP:0000551HP:0000551Color vision defect1CNGA3 CL E G H12611872DiphalliaORPHA11522150600053
HP:0000551HP:0000551Color vision defect1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11262153605080
HP:0000551HP:0000551Color vision defect1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11262153605080
HP:0000551HP:0000551Color vision defect1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124105607805
HP:0000551HP:0000551Color vision defect1CRX CL E G H14061872DiphalliaORPHA11072383602225
HP:0000551HP:0000551Color vision defect1DRAM2 CL E G H1283381872DiphalliaORPHA11028769613360
HP:0000551HP:0000551Color vision defect1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11714415605512
HP:0000551HP:0000551Color vision defect1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1164394139340
HP:0000551HP:0000551Color vision defect1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1234678600364
HP:0000551HP:0000551Color vision defect1GUCA1A CL E G H29781872DiphalliaORPHA1234678600364
HP:0000551HP:0000551Color vision defect1GUCY2D CL E G H30001872DiphalliaORPHA12434689600179
HP:0000551HP:0000551Color vision defect1IMPG1 CL E G H361799000ORPHA1116055602870
HP:0000551HP:0000551Color vision defect1IMPG2 CL E G H5093999000ORPHA14218362607056
HP:0000551HP:0000551Color vision defect1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123116877608507
HP:0000551HP:0000551Color vision defect1NMNAT1 CL E G H648021872DiphalliaORPHA17617877608700
HP:0000551HP:0000551Color vision defect1OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM11622567300170
HP:0000551HP:0000551Color vision defect1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13948140605290
HP:0000551HP:0000551Color vision defect1OPN1LW CL E G H59561872DiphalliaORPHA1639936300822
HP:0000551HP:0000551Color vision defect1OPN1MW CL E G H26521872DiphalliaORPHA1214206300821
HP:0000551HP:0000551Color vision defect1PCYT1A CL E G H513085167ORPHA1208754123695
HP:0000551HP:0000551Color vision defect1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1588787600827
HP:0000551HP:0000551Color vision defect1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1721043608921
HP:0000551HP:0000551Color vision defect1PITPNM3 CL E G H833941872DiphalliaORPHA1721043608921
HP:0000551HP:0000551Color vision defect1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM1730836614784
HP:0000551HP:0000551Color vision defect1POC1B CL E G H2828091872DiphalliaORPHA1730836614784
HP:0000551HP:0000551Color vision defect1PROM1 CL E G H88421872DiphalliaORPHA1839454604365
HP:0000551HP:0000551Color vision defect1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1839454604365
HP:0000551HP:0000551Color vision defect1PRPH2 CL E G H596199000ORPHA11819942179605
HP:0000551HP:0000551Color vision defect1PRPH2 CL E G H59611872DiphalliaORPHA11819942179605
HP:0000551HP:0000551Color vision defect1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11819942179605
HP:0000551HP:0000551Color vision defect1RAB28 CL E G H93641872DiphalliaORPHA169768612994
HP:0000551HP:0000551Color vision defect1RAX2 CL E G H848391872DiphalliaORPHA1418286610362
HP:0000551HP:0000551Color vision defect1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM11217282606629
HP:0000551HP:0000551Color vision defect1RIMS1 CL E G H229991872DiphalliaORPHA11217282606629
HP:0000551HP:0000551Color vision defect1RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM13710024180090
HP:0000551HP:0000551Color vision defect1RPGR CL E G H61031872DiphalliaORPHA124510295312610
HP:0000551HP:0000551Color vision defect1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114913436605446
HP:0000551HP:0000551Color vision defect1RPGRIP1 CL E G H570961872DiphalliaORPHA114913436605446
HP:0000551HP:0000551Color vision defect1SEMA4A CL E G H642181872DiphalliaORPHA11710729607292
HP:0000551HP:0000551Color vision defect1TTLL5 CL E G H230931872DiphalliaORPHA11219963612268
HP:0000551HP:0000551Color vision defect1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17512423602280
HP:0000551HP:0000551Color vision defect1UNC119 CL E G H90941872DiphalliaORPHA1512565604011
HP:0000551HP:0000551Color vision defect2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1128034601691
HP:0000551HP:0000551Color vision defect2ABCA4 CL E G H241872DiphalliaORPHA1128034601691
HP:0000551HP:0000551Color vision defect2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1128034601691
HP:0000551HP:0000551Color vision defect2ADAM9 CL E G H87541872DiphalliaORPHA111216602713
HP:0000551HP:0000551Color vision defect2AIPL1 CL E G H237461872DiphalliaORPHA179359604392
HP:0000551HP:0000551Color vision defect2ATF6 CL E G H229261872DiphalliaORPHA116791605537
HP:0000551HP:0000551Color vision defect2BEST1 CL E G H74391243ORPHA131912703607854
HP:0000551HP:0000551Color vision defect2BEST1 CL E G H743999000ORPHA131912703607854
HP:0000551HP:0000551Color vision defect2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131912703607854
HP:0000551HP:0000551Color vision defect2C8orf37 CL E G H1576571872DiphalliaORPHA11727232614477
HP:0000551HP:0000551Color vision defect2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM1101375114760
HP:0000551HP:0000551Color vision defect2CACNA1F CL E G H778178333ORPHA11851393300110
HP:0000551HP:0000551Color vision defect2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11851393300110
HP:0000551HP:0000551Color vision defect2CACNA1F CL E G H7781872DiphalliaORPHA11851393300110
HP:0000551HP:0000551Color vision defect2CACNA2D4 CL E G H935891872DiphalliaORPHA1920202608171
HP:0000551HP:0000551Color vision defect2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM14914550609502
HP:0000551HP:0000551Color vision defect2CDHR1 CL E G H922111872DiphalliaORPHA14914550609502
HP:0000551HP:0000551Color vision defect2CNGA3 CL E G H12611872DiphalliaORPHA11522150600053
HP:0000551HP:0000551Color vision defect2CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11262153605080
HP:0000551HP:0000551Color vision defect2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11262153605080
HP:0000551HP:0000551Color vision defect2CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124105607805
HP:0000551HP:0000551Color vision defect2CRX CL E G H14061872DiphalliaORPHA11072383602225
HP:0000551HP:0000551Color vision defect2DRAM2 CL E G H1283381872DiphalliaORPHA11028769613360
HP:0000551HP:0000551Color vision defect2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11714415605512
HP:0000551HP:0000551Color vision defect2GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1164394139340
HP:0000551HP:0000551Color vision defect2GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1234678600364
HP:0000551HP:0000551Color vision defect2GUCA1A CL E G H29781872DiphalliaORPHA1234678600364
HP:0000551HP:0000551Color vision defect2GUCY2D CL E G H30001872DiphalliaORPHA12434689600179
HP:0000551HP:0000551Color vision defect2IMPG1 CL E G H361799000ORPHA1116055602870
HP:0000551HP:0000551Color vision defect2IMPG2 CL E G H5093999000ORPHA14218362607056
HP:0000551HP:0000551Color vision defect2MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123116877608507
HP:0000551HP:0000551Color vision defect2NMNAT1 CL E G H648021872DiphalliaORPHA17617877608700
HP:0000551HP:0000551Color vision defect2OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM11622567300170
HP:0000551HP:0000551Color vision defect2OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13948140605290
HP:0000551HP:0000551Color vision defect2OPN1LW CL E G H59561872DiphalliaORPHA1639936300822
HP:0000551HP:0000551Color vision defect2OPN1MW CL E G H26521872DiphalliaORPHA1214206300821
HP:0000551HP:0000551Color vision defect2PCYT1A CL E G H513085167ORPHA1208754123695
HP:0000551HP:0000551Color vision defect2PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1588787600827
HP:0000551HP:0000551Color vision defect2PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1721043608921
HP:0000551HP:0000551Color vision defect2PITPNM3 CL E G H833941872DiphalliaORPHA1721043608921
HP:0000551HP:0000551Color vision defect2POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM1730836614784
HP:0000551HP:0000551Color vision defect2POC1B CL E G H2828091872DiphalliaORPHA1730836614784
HP:0000551HP:0000551Color vision defect2PROM1 CL E G H88421872DiphalliaORPHA1839454604365
HP:0000551HP:0000551Color vision defect2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1839454604365
HP:0000551HP:0000551Color vision defect2PRPH2 CL E G H596199000ORPHA11819942179605
HP:0000551HP:0000551Color vision defect2PRPH2 CL E G H59611872DiphalliaORPHA11819942179605
HP:0000551HP:0000551Color vision defect2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11819942179605
HP:0000551HP:0000551Color vision defect2RAB28 CL E G H93641872DiphalliaORPHA169768612994
HP:0000551HP:0000551Color vision defect2RAX2 CL E G H848391872DiphalliaORPHA1418286610362
HP:0000551HP:0000551Color vision defect2RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM11217282606629
HP:0000551HP:0000551Color vision defect2RIMS1 CL E G H229991872DiphalliaORPHA11217282606629
HP:0000551HP:0000551Color vision defect2RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM13710024180090
HP:0000551HP:0000551Color vision defect2RPGR CL E G H61031872DiphalliaORPHA124510295312610
HP:0000551HP:0000551Color vision defect2RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114913436605446
HP:0000551HP:0000551Color vision defect2RPGRIP1 CL E G H570961872DiphalliaORPHA114913436605446
HP:0000551HP:0000551Color vision defect2SEMA4A CL E G H642181872DiphalliaORPHA11710729607292
HP:0000551HP:0000551Color vision defect2TTLL5 CL E G H230931872DiphalliaORPHA11219963612268
HP:0000551HP:0000551Color vision defect2TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17512423602280
HP:0000551HP:0000551Color vision defect2UNC119 CL E G H90941872DiphalliaORPHA1512565604011
HP:0000551HP:0000551Color vision defect3ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1128034601691
HP:0000551HP:0000551Color vision defect3ABCA4 CL E G H241872DiphalliaORPHA1128034601691
HP:0000551HP:0000551Color vision defect3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1128034601691
HP:0000551HP:0000551Color vision defect3ADAM9 CL E G H87541872DiphalliaORPHA111216602713
HP:0000551HP:0000551Color vision defect3AIPL1 CL E G H237461872DiphalliaORPHA179359604392
HP:0000551HP:0000551Color vision defect3ATF6 CL E G H229261872DiphalliaORPHA116791605537
HP:0000551HP:0000551Color vision defect3BEST1 CL E G H74391243ORPHA131912703607854
HP:0000551HP:0000551Color vision defect3BEST1 CL E G H743999000ORPHA131912703607854
HP:0000551HP:0000551Color vision defect3BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131912703607854
HP:0000551HP:0000551Color vision defect3C8orf37 CL E G H1576571872DiphalliaORPHA11727232614477
HP:0000551HP:0000551Color vision defect3CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM1101375114760
HP:0000551HP:0000551Color vision defect3CACNA1F CL E G H778178333ORPHA11851393300110
HP:0000551HP:0000551Color vision defect3CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11851393300110
HP:0000551HP:0000551Color vision defect3CACNA1F CL E G H7781872DiphalliaORPHA11851393300110
HP:0000551HP:0000551Color vision defect3CACNA2D4 CL E G H935891872DiphalliaORPHA1920202608171
HP:0000551HP:0000551Color vision defect3CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM14914550609502
HP:0000551HP:0000551Color vision defect3CDHR1 CL E G H922111872DiphalliaORPHA14914550609502
HP:0000551HP:0000551Color vision defect3CNGA3 CL E G H12611872DiphalliaORPHA11522150600053
HP:0000551HP:0000551Color vision defect3CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA11262153605080
HP:0000551HP:0000551Color vision defect3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11262153605080
HP:0000551HP:0000551Color vision defect3CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA124105607805
HP:0000551HP:0000551Color vision defect3CRX CL E G H14061872DiphalliaORPHA11072383602225
HP:0000551HP:0000551Color vision defect3DRAM2 CL E G H1283381872DiphalliaORPHA11028769613360
HP:0000551HP:0000551Color vision defect3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11714415605512
HP:0000551HP:0000551Color vision defect3GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA1164394139340
HP:0000551HP:0000551Color vision defect3GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA1234678600364
HP:0000551HP:0000551Color vision defect3GUCA1A CL E G H29781872DiphalliaORPHA1234678600364
HP:0000551HP:0000551Color vision defect3GUCY2D CL E G H30001872DiphalliaORPHA12434689600179
HP:0000551HP:0000551Color vision defect3IMPG1 CL E G H361799000ORPHA1116055602870
HP:0000551HP:0000551Color vision defect3IMPG2 CL E G H5093999000ORPHA14218362607056
HP:0000551HP:0000551Color vision defect3MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123116877608507
HP:0000551HP:0000551Color vision defect3NMNAT1 CL E G H648021872DiphalliaORPHA17617877608700
HP:0000551HP:0000551Color vision defect3OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM11622567300170
HP:0000551HP:0000551Color vision defect3OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA13948140605290
HP:0000551HP:0000551Color vision defect3OPN1LW CL E G H59561872DiphalliaORPHA1639936300822
HP:0000551HP:0000551Color vision defect3OPN1MW CL E G H26521872DiphalliaORPHA1214206300821
HP:0000551HP:0000551Color vision defect3PCYT1A CL E G H513085167ORPHA1208754123695
HP:0000551HP:0000551Color vision defect3PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA1588787600827
HP:0000551HP:0000551Color vision defect3PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1721043608921
HP:0000551HP:0000551Color vision defect3PITPNM3 CL E G H833941872DiphalliaORPHA1721043608921
HP:0000551HP:0000551Color vision defect3POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM1730836614784
HP:0000551HP:0000551Color vision defect3POC1B CL E G H2828091872DiphalliaORPHA1730836614784
HP:0000551HP:0000551Color vision defect3PROM1 CL E G H88421872DiphalliaORPHA1839454604365
HP:0000551HP:0000551Color vision defect3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1839454604365
HP:0000551HP:0000551Color vision defect3PRPH2 CL E G H596199000ORPHA11819942179605
HP:0000551HP:0000551Color vision defect3PRPH2 CL E G H59611872DiphalliaORPHA11819942179605
HP:0000551HP:0000551Color vision defect3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11819942179605
HP:0000551HP:0000551Color vision defect3RAB28 CL E G H93641872DiphalliaORPHA169768612994
HP:0000551HP:0000551Color vision defect3RAX2 CL E G H848391872DiphalliaORPHA1418286610362
HP:0000551HP:0000551Color vision defect3RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM11217282606629
HP:0000551HP:0000551Color vision defect3RIMS1 CL E G H229991872DiphalliaORPHA11217282606629
HP:0000551HP:0000551Color vision defect3RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM13710024180090
HP:0000551HP:0000551Color vision defect3RPGR CL E G H61031872DiphalliaORPHA124510295312610
HP:0000551HP:0000551Color vision defect3RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114913436605446
HP:0000551HP:0000551Color vision defect3RPGRIP1 CL E G H570961872DiphalliaORPHA114913436605446
HP:0000551HP:0000551Color vision defect3SEMA4A CL E G H642181872DiphalliaORPHA11710729607292
HP:0000551HP:0000551Color vision defect3TTLL5 CL E G H230931872DiphalliaORPHA11219963612268
HP:0000551HP:0000551Color vision defect3TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17512423602280
HP:0000551HP:0000551Color vision defect3UNC119 CL E G H90941872DiphalliaORPHA1512565604011
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000551HP:0000551Color vision defect0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01916211300836
HP:0000551HP:0000551Color vision defect0CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM0131386608965
HP:0000551HP:0000551Color vision defect0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA0126821616031
HP:0000551HP:0000551Color vision defect0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA088420626608892
HP:0000551HP:0000551Color vision defect0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072383602225
HP:0000551HP:0000551Color vision defect0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0412701120470
HP:0000551HP:0000551Color vision defect0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA053072602748
HP:0000551HP:0000551Color vision defect0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA0322788613301
HP:0000551HP:0000551Color vision defect0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA053673603725
HP:0000551HP:0000551Color vision defect0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0413686600483
HP:0000551HP:0000551Color vision defect0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653688136350
HP:0000551HP:0000551Color vision defect0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA073762604808
HP:0000551HP:0000551Color vision defect0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA0274877601802
HP:0000551HP:0000551Color vision defect0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA085201604846
HP:0000551HP:0000551Color vision defect0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA01417616606807
HP:0000551HP:0000551Color vision defect0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA0394510604161
HP:0000551HP:0000551Color vision defect0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0929843608137
HP:0000551HP:0000551Color vision defect0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA02118455607002
HP:0000551HP:0000551Color vision defect0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA08315836607123
HP:0000551HP:0000551Color vision defect0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA03110723603961
HP:0000551HP:0000551Color vision defect0SLC52A2 CL E G H7958197229ORPHA02730224607882
HP:0000551HP:0000551Color vision defect0SLC52A3 CL E G H11327897229ORPHA04416187613350
HP:0000551HP:0000551Color vision defect0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015111190602229
HP:0000551HP:0000551Color vision defect0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA01115533607984
HP:0000551HP:0000551Color vision defect0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA03711528162332
HP:0000551HP:0000551Color vision defect0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA01813831606417
HP:0000551HP:0000551Color vision defect1ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01916211300836
HP:0000551HP:0000551Color vision defect1CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM0131386608965
HP:0000551HP:0000551Color vision defect1CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA0126821616031
HP:0000551HP:0000551Color vision defect1CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA088420626608892
HP:0000551HP:0000551Color vision defect1CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072383602225
HP:0000551HP:0000551Color vision defect1DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0412701120470
HP:0000551HP:0000551Color vision defect1DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA053072602748
HP:0000551HP:0000551Color vision defect1FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA0322788613301
HP:0000551HP:0000551Color vision defect1FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA053673603725
HP:0000551HP:0000551Color vision defect1FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0413686600483
HP:0000551HP:0000551Color vision defect1FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653688136350
HP:0000551HP:0000551Color vision defect1FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA073762604808
HP:0000551HP:0000551Color vision defect1HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA0274877601802
HP:0000551HP:0000551Color vision defect1HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA085201604846
HP:0000551HP:0000551Color vision defect1IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA01417616606807
HP:0000551HP:0000551Color vision defect1KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA0394510604161
HP:0000551HP:0000551Color vision defect1NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0929843608137
HP:0000551HP:0000551Color vision defect1PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA02118455607002
HP:0000551HP:0000551Color vision defect1PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA08315836607123
HP:0000551HP:0000551Color vision defect1SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA03110723603961
HP:0000551HP:0000551Color vision defect1SLC52A2 CL E G H7958197229ORPHA02730224607882
HP:0000551HP:0000551Color vision defect1SLC52A3 CL E G H11327897229ORPHA04416187613350
HP:0000551HP:0000551Color vision defect1SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015111190602229
HP:0000551HP:0000551Color vision defect1SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA01115533607984
HP:0000551HP:0000551Color vision defect1TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA03711528162332
HP:0000551HP:0000551Color vision defect1WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA01813831606417
HP:0000551HP:0000551Color vision defect2ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01916211300836
HP:0000551HP:0000551Color vision defect2CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM0131386608965
HP:0000551HP:0000551Color vision defect2CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA0126821616031
HP:0000551HP:0000551Color vision defect2CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA088420626608892
HP:0000551HP:0000551Color vision defect2CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072383602225
HP:0000551HP:0000551Color vision defect2DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0412701120470
HP:0000551HP:0000551Color vision defect2DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA053072602748
HP:0000551HP:0000551Color vision defect2FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA0322788613301
HP:0000551HP:0000551Color vision defect2FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA053673603725
HP:0000551HP:0000551Color vision defect2FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0413686600483
HP:0000551HP:0000551Color vision defect2FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653688136350
HP:0000551HP:0000551Color vision defect2FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA073762604808
HP:0000551HP:0000551Color vision defect2HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA0274877601802
HP:0000551HP:0000551Color vision defect2HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA085201604846
HP:0000551HP:0000551Color vision defect2IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA01417616606807
HP:0000551HP:0000551Color vision defect2KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA0394510604161
HP:0000551HP:0000551Color vision defect2NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0929843608137
HP:0000551HP:0000551Color vision defect2PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA02118455607002
HP:0000551HP:0000551Color vision defect2PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA08315836607123
HP:0000551HP:0000551Color vision defect2SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA03110723603961
HP:0000551HP:0000551Color vision defect2SLC52A2 CL E G H7958197229ORPHA02730224607882
HP:0000551HP:0000551Color vision defect2SLC52A3 CL E G H11327897229ORPHA04416187613350
HP:0000551HP:0000551Color vision defect2SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015111190602229
HP:0000551HP:0000551Color vision defect2SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA01115533607984
HP:0000551HP:0000551Color vision defect2TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA03711528162332
HP:0000551HP:0000551Color vision defect2WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA01813831606417
HP:0000551HP:0000551Color vision defect3ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA01916211300836
HP:0000551HP:0000551Color vision defect3CABP4 CL E G H57010610427Congenital stationary night blindness, type 2B610427C1864877OMIM0131386608965
HP:0000551HP:0000551Color vision defect3CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA0126821616031
HP:0000551HP:0000551Color vision defect3CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA088420626608892
HP:0000551HP:0000551Color vision defect3CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072383602225
HP:0000551HP:0000551Color vision defect3DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA0412701120470
HP:0000551HP:0000551Color vision defect3DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA053072602748
HP:0000551HP:0000551Color vision defect3FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA0322788613301
HP:0000551HP:0000551Color vision defect3FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA053673603725
HP:0000551HP:0000551Color vision defect3FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA0413686600483
HP:0000551HP:0000551Color vision defect3FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA02653688136350
HP:0000551HP:0000551Color vision defect3FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA073762604808
HP:0000551HP:0000551Color vision defect3HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA0274877601802
HP:0000551HP:0000551Color vision defect3HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA085201604846
HP:0000551HP:0000551Color vision defect3IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA01417616606807
HP:0000551HP:0000551Color vision defect3KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA0394510604161
HP:0000551HP:0000551Color vision defect3NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA0929843608137
HP:0000551HP:0000551Color vision defect3PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA02118455607002
HP:0000551HP:0000551Color vision defect3PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA08315836607123
HP:0000551HP:0000551Color vision defect3SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA03110723603961
HP:0000551HP:0000551Color vision defect3SLC52A2 CL E G H7958197229ORPHA02730224607882
HP:0000551HP:0000551Color vision defect3SLC52A3 CL E G H11327897229ORPHA04416187613350
HP:0000551HP:0000551Color vision defect3SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA015111190602229
HP:0000551HP:0000551Color vision defect3SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA01115533607984
HP:0000551HP:0000551Color vision defect3TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA03711528162332
HP:0000551HP:0000551Color vision defect3WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA01813831606417


Genes (81) :ABCA4 ACO2 ADAM9 AIPL1 ANOS1 ATF6 BEST1 C8ORF37 C8orf37 CA4 CABP4 CACNA1F CACNA2D4 CCDC141 CDHR1 CHD7 CNGA3 CNGB3 CNNM4 CRX DCC DNM1L DRAM2 DUSP6 ELOVL4 FEZF1 FGF14 FGF17 FGF8 FGFR1 FLRT3 GNAT2 GUCA1A GUCY2D HBB HESX1 HS6ST1 IL17RD IMPG1 IMPG2 KISS1R MFN2 NBAS NMNAT1 NR2E3 NSMF OFD1 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PCYT1A PDE6C PDE6H PITPNM3 POC1B POLG PROK2 PROKR2 PROM1 PRPH2 RAB28 RAX2 RIMS1 RLBP1 RPGR RPGRIP1 SEMA3A SEMA4A SLC52A2 SLC52A3 SOX10 SPRY4 TACR3 TK2 TMEM126A TTLL5 TULP1 UNC119 WDR11

Diseases (52) :604116 1872 827 478 1243 99000 193220 600852 610427 178333 300476 613660 1871 1873 120970 601152 300424 1215 85167 600977 615973 603649 607476 608194 97229 613843 49382 262300 217080 231214 190900 613093 610024 254886 258450 608051 612989 616289 616517 216900 98764 613856 614800 611131 125250 165500 67036 610708 16 303700 303900 303800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.