Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Abnormality of vision (HP:0000504)help
Parent Node:
expand
Congenital stationary cone dysfunction (HP:0030637)help
..Starting node
..expand
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; 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0000551Color vision defect0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0000551Color vision defect0ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0000551Color vision defect0ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0000551Color vision defect0AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0000551Color vision defect0AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0000551Color vision defect0ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0000551Color vision defect0ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0000551Color vision defect0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0000551Color vision defect0C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0000551Color vision defect0CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0000551Color vision defect0CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0000551Color vision defect0CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0000551Color vision defect0CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0000551Color vision defect0CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H922111872DiphalliaORPHA149614550609502
HP:0000551HP:0000551Color vision defect0CDHR1 CL E G H922111872DiphalliaORPHA162314550609502
HP:0000551HP:0000551Color vision defect0CNGA3 CL E G H12611872DiphalliaORPHA13982150600053
HP:0000551HP:0000551Color vision defect0CNGA3 CL E G H12611872DiphalliaORPHA14972150600053
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA17002153605080
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA15902153605080
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000551HP:0000551Color vision defect0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000551HP:0000551Color vision defect0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1387105607805
HP:0000551HP:0000551Color vision defect0CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1309105607805
HP:0000551HP:0000551Color vision defect0CRX CL E G H14061872DiphalliaORPHA13612383602225
HP:0000551HP:0000551Color vision defect0CRX CL E G H14061872DiphalliaORPHA14192383602225
HP:0000551HP:0000551Color vision defect0DRAM2 CL E G H1283381872DiphalliaORPHA17328769613360
HP:0000551HP:0000551Color vision defect0DRAM2 CL E G H1283381872DiphalliaORPHA111728769613360
HP:0000551HP:0000551Color vision defect0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000551HP:0000551Color vision defect0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000551HP:0000551Color vision defect0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11584394139340
HP:0000551HP:0000551Color vision defect0GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11314394139340
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11904678600364
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11584678600364
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29781872DiphalliaORPHA11584678600364
HP:0000551HP:0000551Color vision defect0GUCA1A CL E G H29781872DiphalliaORPHA11904678600364
HP:0000551HP:0000551Color vision defect0GUCY2D CL E G H30001872DiphalliaORPHA15934689600179
HP:0000551HP:0000551Color vision defect0GUCY2D CL E G H30001872DiphalliaORPHA17314689600179
HP:0000551HP:0000551Color vision defect0IMPG1 CL E G H361799000ORPHA13756055602870
HP:0000551HP:0000551Color vision defect0IMPG1 CL E G H361799000ORPHA12706055602870
HP:0000551HP:0000551Color vision defect0IMPG2 CL E G H5093999000ORPHA162618362607056
HP:0000551HP:0000551Color vision defect0IMPG2 CL E G H5093999000ORPHA149818362607056
HP:0000551HP:0000551Color vision defect0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0000551HP:0000551Color vision defect0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0000551HP:0000551Color vision defect0NMNAT1 CL E G H648021872DiphalliaORPHA114417877608700
HP:0000551HP:0000551Color vision defect0NMNAT1 CL E G H648021872DiphalliaORPHA118017877608700
HP:0000551HP:0000551Color vision defect0OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM17232567300170
HP:0000551HP:0000551Color vision defect0OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM16472567300170
HP:0000551HP:0000551Color vision defect0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA17398140605290
HP:0000551HP:0000551Color vision defect0OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA15988140605290
HP:0000551HP:0000551Color vision defect0OPN1LW CL E G H59561872DiphalliaORPHA12649936300822
HP:0000551HP:0000551Color vision defect0OPN1LW CL E G H59561872DiphalliaORPHA12719936300822
HP:0000551HP:0000551Color vision defect0OPN1MW CL E G H26521872DiphalliaORPHA12554206300821
HP:0000551HP:0000551Color vision defect0OPN1MW CL E G H26521872DiphalliaORPHA12604206300821
HP:0000551HP:0000551Color vision defect0PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000551HP:0000551Color vision defect0PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000551HP:0000551Color vision defect0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA14108787600827
HP:0000551HP:0000551Color vision defect0PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA13298787600827
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM156421043608921
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM146821043608921
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H833941872DiphalliaORPHA146821043608921
HP:0000551HP:0000551Color vision defect0PITPNM3 CL E G H833941872DiphalliaORPHA156421043608921
HP:0000551HP:0000551Color vision defect0POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM115030836614784
HP:0000551HP:0000551Color vision defect0POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM122030836614784
HP:0000551HP:0000551Color vision defect0POC1B CL E G H2828091872DiphalliaORPHA115030836614784
HP:0000551HP:0000551Color vision defect0POC1B CL E G H2828091872DiphalliaORPHA122030836614784
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H88421872DiphalliaORPHA16439454604365
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H88421872DiphalliaORPHA15099454604365
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000551HP:0000551Color vision defect0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H596199000ORPHA15929942179605
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H596199000ORPHA15279942179605
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H59611872DiphalliaORPHA15929942179605
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H59611872DiphalliaORPHA15279942179605
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000551HP:0000551Color vision defect0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000551HP:0000551Color vision defect0RAB28 CL E G H93641872DiphalliaORPHA11609768612994
HP:0000551HP:0000551Color vision defect0RAB28 CL E G H93641872DiphalliaORPHA11209768612994
HP:0000551HP:0000551Color vision defect0RAX2 CL E G H848391872DiphalliaORPHA120118286610362
HP:0000551HP:0000551Color vision defect0RAX2 CL E G H848391872DiphalliaORPHA116318286610362
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM167417282606629
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM149817282606629
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H229991872DiphalliaORPHA167417282606629
HP:0000551HP:0000551Color vision defect0RIMS1 CL E G H229991872DiphalliaORPHA149817282606629
HP:0000551HP:0000551Color vision defect0RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM124410024180090
HP:0000551HP:0000551Color vision defect0RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM120010024180090
HP:0000551HP:0000551Color vision defect0RPGR CL E G H61031872DiphalliaORPHA184710295312610
HP:0000551HP:0000551Color vision defect0RPGR CL E G H61031872DiphalliaORPHA180210295312610
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM170813436605446
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM157013436605446
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H570961872DiphalliaORPHA170813436605446
HP:0000551HP:0000551Color vision defect0RPGRIP1 CL E G H570961872DiphalliaORPHA157013436605446
HP:0000551HP:0000551Color vision defect0SEMA4A CL E G H642181872DiphalliaORPHA132310729607292
HP:0000551HP:0000551Color vision defect0SEMA4A CL E G H642181872DiphalliaORPHA124010729607292
HP:0000551HP:0000551Color vision defect0TTLL5 CL E G H230931872DiphalliaORPHA160019963612268
HP:0000551HP:0000551Color vision defect0TTLL5 CL E G H230931872DiphalliaORPHA142319963612268
HP:0000551HP:0000551Color vision defect0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM131112423602280
HP:0000551HP:0000551Color vision defect0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM140712423602280
HP:0000551HP:0000551Color vision defect0UNC119 CL E G H90941872DiphalliaORPHA114112565604011
HP:0000551HP:0000551Color vision defect0UNC119 CL E G H90941872DiphalliaORPHA110512565604011
HP:0000551HP:0030584Color vision test abnormality1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0007641Dyschromatopsia1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0030584Color vision test abnormality1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0007641Dyschromatopsia1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0007803Monochromacy1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0007803Monochromacy1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0007803Monochromacy1ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0007803Monochromacy1ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0007641Dyschromatopsia1ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0030584Color vision test abnormality1ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0007641Dyschromatopsia1ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0030584Color vision test abnormality1ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0007803Monochromacy1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0007803Monochromacy1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0007641Dyschromatopsia1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0030584Color vision test abnormality1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0030584Color vision test abnormality1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0007641Dyschromatopsia1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0007803Monochromacy1ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0007803Monochromacy1ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0007641Dyschromatopsia1ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0030584Color vision test abnormality1ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0007641Dyschromatopsia1ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0030584Color vision test abnormality1ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0007803Monochromacy1AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0007803Monochromacy1AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0007641Dyschromatopsia1AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0030584Color vision test abnormality1AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0007641Dyschromatopsia1AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0030584Color vision test abnormality1AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0007803Monochromacy1ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0007803Monochromacy1ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0007641Dyschromatopsia1ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0030584Color vision test abnormality1ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0007641Dyschromatopsia1ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0030584Color vision test abnormality1ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0007641Dyschromatopsia1BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0030584Color vision test abnormality1BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0007803Monochromacy1BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0007803Monochromacy1BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0007803Monochromacy1BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0007803Monochromacy1BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0030584Color vision test abnormality1BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0007641Dyschromatopsia1BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0007641Dyschromatopsia1BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0030584Color vision test abnormality1BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0030584Color vision test abnormality1BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0007641Dyschromatopsia1BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0007641Dyschromatopsia1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0030584Color vision test abnormality1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0007641Dyschromatopsia1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0030584Color vision test abnormality1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0007803Monochromacy1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0007803Monochromacy1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0007803Monochromacy1C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0030584Color vision test abnormality1C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0007641Dyschromatopsia1C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0007641Dyschromatopsia1CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0030584Color vision test abnormality1CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0007641Dyschromatopsia1CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0030584Color vision test abnormality1CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0007803Monochromacy1CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0007803Monochromacy1CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0030584Color vision test abnormality1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0007641Dyschromatopsia1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0007803Monochromacy1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0007803Monochromacy1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0007641Dyschromatopsia1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0030584Color vision test abnormality1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0007641Dyschromatopsia1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0030584Color vision test abnormality1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0007641Dyschromatopsia1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0030584Color vision test abnormality1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0007803Monochromacy1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0007803Monochromacy1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0007803Monochromacy1CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0030584Color vision test abnormality1CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0007641Dyschromatopsia1CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0030584Color vision test abnormality1CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0007641Dyschromatopsia1CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0007803Monochromacy1CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0007803Monochromacy1CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0030584Color vision test abnormality1CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0007641Dyschromatopsia1CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0030584Color vision test abnormality1CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0007641Dyschromatopsia1CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0007803Monochromacy1CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0030584Color vision test abnormality1CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0007641Dyschromatopsia1CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0030584Color vision test abnormality1CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0007641Dyschromatopsia1CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0007803Monochromacy1CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0007803Monochromacy1CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0007803Monochromacy1CDHR1 CL E G H922111872DiphalliaORPHA149614550609502
HP:0000551HP:0030584Color vision test abnormality1CDHR1 CL E G H922111872DiphalliaORPHA162314550609502
HP:0000551HP:0007641Dyschromatopsia1CDHR1 CL E G H922111872DiphalliaORPHA162314550609502
HP:0000551HP:0030584Color vision test abnormality1CDHR1 CL E G H922111872DiphalliaORPHA149614550609502
HP:0000551HP:0007641Dyschromatopsia1CDHR1 CL E G H922111872DiphalliaORPHA149614550609502
HP:0000551HP:0007803Monochromacy1CDHR1 CL E G H922111872DiphalliaORPHA162314550609502
HP:0000551HP:0007803Monochromacy1CNGA3 CL E G H12611872DiphalliaORPHA13982150600053
HP:0000551HP:0030584Color vision test abnormality1CNGA3 CL E G H12611872DiphalliaORPHA14972150600053
HP:0000551HP:0007641Dyschromatopsia1CNGA3 CL E G H12611872DiphalliaORPHA14972150600053
HP:0000551HP:0030584Color vision test abnormality1CNGA3 CL E G H12611872DiphalliaORPHA13982150600053
HP:0000551HP:0007641Dyschromatopsia1CNGA3 CL E G H12611872DiphalliaORPHA13982150600053
HP:0000551HP:0007803Monochromacy1CNGA3 CL E G H12611872DiphalliaORPHA14972150600053
HP:0000551HP:0007803Monochromacy1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA17002153605080
HP:0000551HP:0007803Monochromacy1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA15902153605080
HP:0000551HP:0030584Color vision test abnormality1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA17002153605080
HP:0000551HP:0007641Dyschromatopsia1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA17002153605080
HP:0000551HP:0030584Color vision test abnormality1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA15902153605080
HP:0000551HP:0007641Dyschromatopsia1CNGB3 CL E G H547141871Dionisi Vici Sabetta Gambarara syndromeORPHA15902153605080
HP:0000551HP:0007803Monochromacy1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000551HP:0007803Monochromacy1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000551HP:0030584Color vision test abnormality1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000551HP:0007641Dyschromatopsia1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0000551HP:0030584Color vision test abnormality1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000551HP:0007641Dyschromatopsia1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0000551HP:0007803Monochromacy1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1387105607805
HP:0000551HP:0007803Monochromacy1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1309105607805
HP:0000551HP:0030584Color vision test abnormality1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1387105607805
HP:0000551HP:0007641Dyschromatopsia1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1387105607805
HP:0000551HP:0030584Color vision test abnormality1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1309105607805
HP:0000551HP:0007641Dyschromatopsia1CNNM4 CL E G H265041873Diphallus rachischisis imperforate anusORPHA1309105607805
HP:0000551HP:0007803Monochromacy1CRX CL E G H14061872DiphalliaORPHA13612383602225
HP:0000551HP:0030584Color vision test abnormality1CRX CL E G H14061872DiphalliaORPHA14192383602225
HP:0000551HP:0007641Dyschromatopsia1CRX CL E G H14061872DiphalliaORPHA14192383602225
HP:0000551HP:0030584Color vision test abnormality1CRX CL E G H14061872DiphalliaORPHA13612383602225
HP:0000551HP:0007641Dyschromatopsia1CRX CL E G H14061872DiphalliaORPHA13612383602225
HP:0000551HP:0007803Monochromacy1CRX CL E G H14061872DiphalliaORPHA14192383602225
HP:0000551HP:0007803Monochromacy1DRAM2 CL E G H1283381872DiphalliaORPHA17328769613360
HP:0000551HP:0030584Color vision test abnormality1DRAM2 CL E G H1283381872DiphalliaORPHA111728769613360
HP:0000551HP:0007641Dyschromatopsia1DRAM2 CL E G H1283381872DiphalliaORPHA111728769613360
HP:0000551HP:0030584Color vision test abnormality1DRAM2 CL E G H1283381872DiphalliaORPHA17328769613360
HP:0000551HP:0007641Dyschromatopsia1DRAM2 CL E G H1283381872DiphalliaORPHA17328769613360
HP:0000551HP:0007803Monochromacy1DRAM2 CL E G H1283381872DiphalliaORPHA111728769613360
HP:0000551HP:0007803Monochromacy1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000551HP:0007803Monochromacy1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000551HP:0030584Color vision test abnormality1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000551HP:0007641Dyschromatopsia1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0000551HP:0030584Color vision test abnormality1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000551HP:0007641Dyschromatopsia1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0000551HP:0007803Monochromacy1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11584394139340
HP:0000551HP:0007803Monochromacy1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11314394139340
HP:0000551HP:0030584Color vision test abnormality1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11584394139340
HP:0000551HP:0007641Dyschromatopsia1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11584394139340
HP:0000551HP:0030584Color vision test abnormality1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11314394139340
HP:0000551HP:0007641Dyschromatopsia1GNAT2 CL E G H27801871Dionisi Vici Sabetta Gambarara syndromeORPHA11314394139340
HP:0000551HP:0007803Monochromacy1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11904678600364
HP:0000551HP:0007803Monochromacy1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11584678600364
HP:0000551HP:0030584Color vision test abnormality1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11904678600364
HP:0000551HP:0007641Dyschromatopsia1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11904678600364
HP:0000551HP:0007641Dyschromatopsia1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11584678600364
HP:0000551HP:0030584Color vision test abnormality1GUCA1A CL E G H29781871Dionisi Vici Sabetta Gambarara syndromeORPHA11584678600364
HP:0000551HP:0007803Monochromacy1GUCA1A CL E G H29781872DiphalliaORPHA11584678600364
HP:0000551HP:0030584Color vision test abnormality1GUCA1A CL E G H29781872DiphalliaORPHA11904678600364
HP:0000551HP:0007641Dyschromatopsia1GUCA1A CL E G H29781872DiphalliaORPHA11904678600364
HP:0000551HP:0030584Color vision test abnormality1GUCA1A CL E G H29781872DiphalliaORPHA11584678600364
HP:0000551HP:0007641Dyschromatopsia1GUCA1A CL E G H29781872DiphalliaORPHA11584678600364
HP:0000551HP:0007803Monochromacy1GUCA1A CL E G H29781872DiphalliaORPHA11904678600364
HP:0000551HP:0007803Monochromacy1GUCY2D CL E G H30001872DiphalliaORPHA15934689600179
HP:0000551HP:0030584Color vision test abnormality1GUCY2D CL E G H30001872DiphalliaORPHA17314689600179
HP:0000551HP:0007641Dyschromatopsia1GUCY2D CL E G H30001872DiphalliaORPHA17314689600179
HP:0000551HP:0030584Color vision test abnormality1GUCY2D CL E G H30001872DiphalliaORPHA15934689600179
HP:0000551HP:0007641Dyschromatopsia1GUCY2D CL E G H30001872DiphalliaORPHA15934689600179
HP:0000551HP:0007803Monochromacy1GUCY2D CL E G H30001872DiphalliaORPHA17314689600179
HP:0000551HP:0007641Dyschromatopsia1IMPG1 CL E G H361799000ORPHA12706055602870
HP:0000551HP:0030584Color vision test abnormality1IMPG1 CL E G H361799000ORPHA12706055602870
HP:0000551HP:0007803Monochromacy1IMPG1 CL E G H361799000ORPHA13756055602870
HP:0000551HP:0007803Monochromacy1IMPG1 CL E G H361799000ORPHA12706055602870
HP:0000551HP:0007641Dyschromatopsia1IMPG1 CL E G H361799000ORPHA13756055602870
HP:0000551HP:0030584Color vision test abnormality1IMPG1 CL E G H361799000ORPHA13756055602870
HP:0000551HP:0007641Dyschromatopsia1IMPG2 CL E G H5093999000ORPHA149818362607056
HP:0000551HP:0030584Color vision test abnormality1IMPG2 CL E G H5093999000ORPHA149818362607056
HP:0000551HP:0007803Monochromacy1IMPG2 CL E G H5093999000ORPHA162618362607056
HP:0000551HP:0007803Monochromacy1IMPG2 CL E G H5093999000ORPHA149818362607056
HP:0000551HP:0007641Dyschromatopsia1IMPG2 CL E G H5093999000ORPHA162618362607056
HP:0000551HP:0030584Color vision test abnormality1IMPG2 CL E G H5093999000ORPHA162618362607056
HP:0000551HP:0007641Dyschromatopsia1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0000551HP:0030584Color vision test abnormality1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0000551HP:0007641Dyschromatopsia1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0000551HP:0030584Color vision test abnormality1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0000551HP:0007803Monochromacy1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0000551HP:0007803Monochromacy1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0000551HP:0007803Monochromacy1NMNAT1 CL E G H648021872DiphalliaORPHA114417877608700
HP:0000551HP:0030584Color vision test abnormality1NMNAT1 CL E G H648021872DiphalliaORPHA118017877608700
HP:0000551HP:0007641Dyschromatopsia1NMNAT1 CL E G H648021872DiphalliaORPHA118017877608700
HP:0000551HP:0030584Color vision test abnormality1NMNAT1 CL E G H648021872DiphalliaORPHA114417877608700
HP:0000551HP:0007641Dyschromatopsia1NMNAT1 CL E G H648021872DiphalliaORPHA114417877608700
HP:0000551HP:0007803Monochromacy1NMNAT1 CL E G H648021872DiphalliaORPHA118017877608700
HP:0000551HP:0007641Dyschromatopsia1OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM17232567300170
HP:0000551HP:0030584Color vision test abnormality1OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM17232567300170
HP:0000551HP:0007641Dyschromatopsia1OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM16472567300170
HP:0000551HP:0030584Color vision test abnormality1OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM16472567300170
HP:0000551HP:0007803Monochromacy1OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM17232567300170
HP:0000551HP:0007803Monochromacy1OFD1 CL E G H8481300424Retinitis Pigmentosa 23300424C1419610OMIM16472567300170
HP:0000551HP:0007803Monochromacy1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA17398140605290
HP:0000551HP:0007803Monochromacy1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA15988140605290
HP:0000551HP:0030584Color vision test abnormality1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA17398140605290
HP:0000551HP:0007641Dyschromatopsia1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA17398140605290
HP:0000551HP:0030584Color vision test abnormality1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA15988140605290
HP:0000551HP:0007641Dyschromatopsia1OPA1 CL E G H49761215Cerebro reno digital syndromeORPHA15988140605290
HP:0000551HP:0007803Monochromacy1OPN1LW CL E G H59561872DiphalliaORPHA12649936300822
HP:0000551HP:0030584Color vision test abnormality1OPN1LW CL E G H59561872DiphalliaORPHA12719936300822
HP:0000551HP:0007641Dyschromatopsia1OPN1LW CL E G H59561872DiphalliaORPHA12719936300822
HP:0000551HP:0007641Dyschromatopsia1OPN1LW CL E G H59561872DiphalliaORPHA12649936300822
HP:0000551HP:0030584Color vision test abnormality1OPN1LW CL E G H59561872DiphalliaORPHA12649936300822
HP:0000551HP:0007803Monochromacy1OPN1LW CL E G H59561872DiphalliaORPHA12719936300822
HP:0000551HP:0007803Monochromacy1OPN1MW CL E G H26521872DiphalliaORPHA12554206300821
HP:0000551HP:0007641Dyschromatopsia1OPN1MW CL E G H26521872DiphalliaORPHA12604206300821
HP:0000551HP:0030584Color vision test abnormality1OPN1MW CL E G H26521872DiphalliaORPHA12604206300821
HP:0000551HP:0007641Dyschromatopsia1OPN1MW CL E G H26521872DiphalliaORPHA12554206300821
HP:0000551HP:0030584Color vision test abnormality1OPN1MW CL E G H26521872DiphalliaORPHA12554206300821
HP:0000551HP:0007803Monochromacy1OPN1MW CL E G H26521872DiphalliaORPHA12604206300821
HP:0000551HP:0007803Monochromacy1PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000551HP:0007803Monochromacy1PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000551HP:0030584Color vision test abnormality1PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000551HP:0007641Dyschromatopsia1PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000551HP:0007641Dyschromatopsia1PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000551HP:0030584Color vision test abnormality1PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000551HP:0007803Monochromacy1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA14108787600827
HP:0000551HP:0007803Monochromacy1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA13298787600827
HP:0000551HP:0007641Dyschromatopsia1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA14108787600827
HP:0000551HP:0030584Color vision test abnormality1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA14108787600827
HP:0000551HP:0007641Dyschromatopsia1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA13298787600827
HP:0000551HP:0030584Color vision test abnormality1PDE6C CL E G H51461871Dionisi Vici Sabetta Gambarara syndromeORPHA13298787600827
HP:0000551HP:0007641Dyschromatopsia1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM156421043608921
HP:0000551HP:0030584Color vision test abnormality1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM156421043608921
HP:0000551HP:0007641Dyschromatopsia1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM146821043608921
HP:0000551HP:0030584Color vision test abnormality1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM146821043608921
HP:0000551HP:0007803Monochromacy1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM156421043608921
HP:0000551HP:0007803Monochromacy1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM146821043608921
HP:0000551HP:0007803Monochromacy1PITPNM3 CL E G H833941872DiphalliaORPHA146821043608921
HP:0000551HP:0007641Dyschromatopsia1PITPNM3 CL E G H833941872DiphalliaORPHA156421043608921
HP:0000551HP:0030584Color vision test abnormality1PITPNM3 CL E G H833941872DiphalliaORPHA156421043608921
HP:0000551HP:0007641Dyschromatopsia1PITPNM3 CL E G H833941872DiphalliaORPHA146821043608921
HP:0000551HP:0030584Color vision test abnormality1PITPNM3 CL E G H833941872DiphalliaORPHA146821043608921
HP:0000551HP:0007803Monochromacy1PITPNM3 CL E G H833941872DiphalliaORPHA156421043608921
HP:0000551HP:0007803Monochromacy1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM115030836614784
HP:0000551HP:0030584Color vision test abnormality1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM122030836614784
HP:0000551HP:0007641Dyschromatopsia1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM122030836614784
HP:0000551HP:0030584Color vision test abnormality1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM115030836614784
HP:0000551HP:0007641Dyschromatopsia1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM115030836614784
HP:0000551HP:0007803Monochromacy1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM122030836614784
HP:0000551HP:0007803Monochromacy1POC1B CL E G H2828091872DiphalliaORPHA115030836614784
HP:0000551HP:0007641Dyschromatopsia1POC1B CL E G H2828091872DiphalliaORPHA122030836614784
HP:0000551HP:0030584Color vision test abnormality1POC1B CL E G H2828091872DiphalliaORPHA122030836614784
HP:0000551HP:0007641Dyschromatopsia1POC1B CL E G H2828091872DiphalliaORPHA115030836614784
HP:0000551HP:0030584Color vision test abnormality1POC1B CL E G H2828091872DiphalliaORPHA115030836614784
HP:0000551HP:0007803Monochromacy1POC1B CL E G H2828091872DiphalliaORPHA122030836614784
HP:0000551HP:0007803Monochromacy1PROM1 CL E G H88421872DiphalliaORPHA16439454604365
HP:0000551HP:0007803Monochromacy1PROM1 CL E G H88421872DiphalliaORPHA15099454604365
HP:0000551HP:0030584Color vision test abnormality1PROM1 CL E G H88421872DiphalliaORPHA16439454604365
HP:0000551HP:0007641Dyschromatopsia1PROM1 CL E G H88421872DiphalliaORPHA16439454604365
HP:0000551HP:0030584Color vision test abnormality1PROM1 CL E G H88421872DiphalliaORPHA15099454604365
HP:0000551HP:0007641Dyschromatopsia1PROM1 CL E G H88421872DiphalliaORPHA15099454604365
HP:0000551HP:0007803Monochromacy1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000551HP:0007803Monochromacy1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000551HP:0030584Color vision test abnormality1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000551HP:0007641Dyschromatopsia1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0000551HP:0030584Color vision test abnormality1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000551HP:0007641Dyschromatopsia1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0000551HP:0007641Dyschromatopsia1PRPH2 CL E G H596199000ORPHA15279942179605
HP:0000551HP:0030584Color vision test abnormality1PRPH2 CL E G H596199000ORPHA15279942179605
HP:0000551HP:0007803Monochromacy1PRPH2 CL E G H596199000ORPHA15929942179605
HP:0000551HP:0007803Monochromacy1PRPH2 CL E G H596199000ORPHA15279942179605
HP:0000551HP:0007641Dyschromatopsia1PRPH2 CL E G H596199000ORPHA15929942179605
HP:0000551HP:0030584Color vision test abnormality1PRPH2 CL E G H596199000ORPHA15929942179605
HP:0000551HP:0007803Monochromacy1PRPH2 CL E G H59611872DiphalliaORPHA15929942179605
HP:0000551HP:0007803Monochromacy1PRPH2 CL E G H59611872DiphalliaORPHA15279942179605
HP:0000551HP:0007641Dyschromatopsia1PRPH2 CL E G H59611872DiphalliaORPHA15929942179605
HP:0000551HP:0030584Color vision test abnormality1PRPH2 CL E G H59611872DiphalliaORPHA15929942179605
HP:0000551HP:0007641Dyschromatopsia1PRPH2 CL E G H59611872DiphalliaORPHA15279942179605
HP:0000551HP:0030584Color vision test abnormality1PRPH2 CL E G H59611872DiphalliaORPHA15279942179605
HP:0000551HP:0007803Monochromacy1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000551HP:0007803Monochromacy1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000551HP:0030584Color vision test abnormality1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000551HP:0007641Dyschromatopsia1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0000551HP:0030584Color vision test abnormality1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000551HP:0007641Dyschromatopsia1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0000551HP:0007803Monochromacy1RAB28 CL E G H93641872DiphalliaORPHA11609768612994
HP:0000551HP:0007803Monochromacy1RAB28 CL E G H93641872DiphalliaORPHA11209768612994
HP:0000551HP:0007641Dyschromatopsia1RAB28 CL E G H93641872DiphalliaORPHA11609768612994
HP:0000551HP:0030584Color vision test abnormality1RAB28 CL E G H93641872DiphalliaORPHA11609768612994
HP:0000551HP:0007641Dyschromatopsia1RAB28 CL E G H93641872DiphalliaORPHA11209768612994
HP:0000551HP:0030584Color vision test abnormality1RAB28 CL E G H93641872DiphalliaORPHA11209768612994
HP:0000551HP:0007803Monochromacy1RAX2 CL E G H848391872DiphalliaORPHA120118286610362
HP:0000551HP:0007803Monochromacy1RAX2 CL E G H848391872DiphalliaORPHA116318286610362
HP:0000551HP:0030584Color vision test abnormality1RAX2 CL E G H848391872DiphalliaORPHA120118286610362
HP:0000551HP:0007641Dyschromatopsia1RAX2 CL E G H848391872DiphalliaORPHA120118286610362
HP:0000551HP:0030584Color vision test abnormality1RAX2 CL E G H848391872DiphalliaORPHA116318286610362
HP:0000551HP:0007641Dyschromatopsia1RAX2 CL E G H848391872DiphalliaORPHA116318286610362
HP:0000551HP:0007641Dyschromatopsia1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM167417282606629
HP:0000551HP:0030584Color vision test abnormality1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM167417282606629
HP:0000551HP:0030584Color vision test abnormality1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM149817282606629
HP:0000551HP:0007641Dyschromatopsia1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM149817282606629
HP:0000551HP:0007803Monochromacy1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM167417282606629
HP:0000551HP:0007803Monochromacy1RIMS1 CL E G H22999603649Cone-rod dystrophy 7603649C1863634OMIM149817282606629
HP:0000551HP:0007803Monochromacy1RIMS1 CL E G H229991872DiphalliaORPHA167417282606629
HP:0000551HP:0007803Monochromacy1RIMS1 CL E G H229991872DiphalliaORPHA149817282606629
HP:0000551HP:0030584Color vision test abnormality1RIMS1 CL E G H229991872DiphalliaORPHA167417282606629
HP:0000551HP:0007641Dyschromatopsia1RIMS1 CL E G H229991872DiphalliaORPHA167417282606629
HP:0000551HP:0030584Color vision test abnormality1RIMS1 CL E G H229991872DiphalliaORPHA149817282606629
HP:0000551HP:0007641Dyschromatopsia1RIMS1 CL E G H229991872DiphalliaORPHA149817282606629
HP:0000551HP:0030584Color vision test abnormality1RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM124410024180090
HP:0000551HP:0007641Dyschromatopsia1RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM124410024180090
HP:0000551HP:0030584Color vision test abnormality1RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM120010024180090
HP:0000551HP:0007641Dyschromatopsia1RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM120010024180090
HP:0000551HP:0007803Monochromacy1RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM124410024180090
HP:0000551HP:0007803Monochromacy1RLBP1 CL E G H6017607476Newfoundland rod-cone dystrophy607476C1843815OMIM120010024180090
HP:0000551HP:0007803Monochromacy1RPGR CL E G H61031872DiphalliaORPHA184710295312610
HP:0000551HP:0007803Monochromacy1RPGR CL E G H61031872DiphalliaORPHA180210295312610
HP:0000551HP:0030584Color vision test abnormality1RPGR CL E G H61031872DiphalliaORPHA184710295312610
HP:0000551HP:0007641Dyschromatopsia1RPGR CL E G H61031872DiphalliaORPHA184710295312610
HP:0000551HP:0030584Color vision test abnormality1RPGR CL E G H61031872DiphalliaORPHA180210295312610
HP:0000551HP:0007641Dyschromatopsia1RPGR CL E G H61031872DiphalliaORPHA180210295312610
HP:0000551HP:0030584Color vision test abnormality1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM170813436605446
HP:0000551HP:0007641Dyschromatopsia1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM170813436605446
HP:0000551HP:0030584Color vision test abnormality1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM157013436605446
HP:0000551HP:0007641Dyschromatopsia1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM157013436605446
HP:0000551HP:0007803Monochromacy1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM170813436605446
HP:0000551HP:0007803Monochromacy1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM157013436605446
HP:0000551HP:0007803Monochromacy1RPGRIP1 CL E G H570961872DiphalliaORPHA170813436605446
HP:0000551HP:0007803Monochromacy1RPGRIP1 CL E G H570961872DiphalliaORPHA157013436605446
HP:0000551HP:0030584Color vision test abnormality1RPGRIP1 CL E G H570961872DiphalliaORPHA170813436605446
HP:0000551HP:0007641Dyschromatopsia1RPGRIP1 CL E G H570961872DiphalliaORPHA170813436605446
HP:0000551HP:0030584Color vision test abnormality1RPGRIP1 CL E G H570961872DiphalliaORPHA157013436605446
HP:0000551HP:0007641Dyschromatopsia1RPGRIP1 CL E G H570961872DiphalliaORPHA157013436605446
HP:0000551HP:0007803Monochromacy1SEMA4A CL E G H642181872DiphalliaORPHA132310729607292
HP:0000551HP:0007803Monochromacy1SEMA4A CL E G H642181872DiphalliaORPHA124010729607292
HP:0000551HP:0030584Color vision test abnormality1SEMA4A CL E G H642181872DiphalliaORPHA132310729607292
HP:0000551HP:0007641Dyschromatopsia1SEMA4A CL E G H642181872DiphalliaORPHA132310729607292
HP:0000551HP:0030584Color vision test abnormality1SEMA4A CL E G H642181872DiphalliaORPHA124010729607292
HP:0000551HP:0007641Dyschromatopsia1SEMA4A CL E G H642181872DiphalliaORPHA124010729607292
HP:0000551HP:0007803Monochromacy1TTLL5 CL E G H230931872DiphalliaORPHA160019963612268
HP:0000551HP:0007803Monochromacy1TTLL5 CL E G H230931872DiphalliaORPHA142319963612268
HP:0000551HP:0030584Color vision test abnormality1TTLL5 CL E G H230931872DiphalliaORPHA160019963612268
HP:0000551HP:0007641Dyschromatopsia1TTLL5 CL E G H230931872DiphalliaORPHA160019963612268
HP:0000551HP:0030584Color vision test abnormality1TTLL5 CL E G H230931872DiphalliaORPHA142319963612268
HP:0000551HP:0007641Dyschromatopsia1TTLL5 CL E G H230931872DiphalliaORPHA142319963612268
HP:0000551HP:0007803Monochromacy1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM131112423602280
HP:0000551HP:0030584Color vision test abnormality1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM140712423602280
HP:0000551HP:0007641Dyschromatopsia1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM140712423602280
HP:0000551HP:0030584Color vision test abnormality1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM131112423602280
HP:0000551HP:0007641Dyschromatopsia1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM131112423602280
HP:0000551HP:0007803Monochromacy1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM140712423602280
HP:0000551HP:0007803Monochromacy1UNC119 CL E G H90941872DiphalliaORPHA114112565604011
HP:0000551HP:0007803Monochromacy1UNC119 CL E G H90941872DiphalliaORPHA110512565604011
HP:0000551HP:0030584Color vision test abnormality1UNC119 CL E G H90941872DiphalliaORPHA114112565604011
HP:0000551HP:0007641Dyschromatopsia1UNC119 CL E G H90941872DiphalliaORPHA114112565604011
HP:0000551HP:0030584Color vision test abnormality1UNC119 CL E G H90941872DiphalliaORPHA110512565604011
HP:0000551HP:0007641Dyschromatopsia1UNC119 CL E G H90941872DiphalliaORPHA110512565604011
HP:0000551HP:0011516Achromatopsia2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0030586Abnormal Ishihara plate test2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0000642Red-green dyschromatopsia2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0030586Abnormal Ishihara plate test2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0000642Red-green dyschromatopsia2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0011516Achromatopsia2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0011519Anomalous trichromacy2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0011517Cone monochromacy2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0011518Dichromacy2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0030585Red desaturation2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000551HP:0011517Cone monochromacy2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0011518Dichromacy2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0030585Red desaturation2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0011519Anomalous trichromacy2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000551HP:0030585Red desaturation2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0011519Anomalous trichromacy2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0011517Cone monochromacy2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0011518Dichromacy2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0030585Red desaturation2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0011519Anomalous trichromacy2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0011517Cone monochromacy2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0011518Dichromacy2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0030586Abnormal Ishihara plate test2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0000642Red-green dyschromatopsia2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0011516Achromatopsia2ABCA4 CL E G H241872DiphalliaORPHA1253434601691
HP:0000551HP:0030586Abnormal Ishihara plate test2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0000642Red-green dyschromatopsia2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0011516Achromatopsia2ABCA4 CL E G H241872DiphalliaORPHA1212834601691
HP:0000551HP:0011519Anomalous trichromacy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0011517Cone monochromacy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0011518Dichromacy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0030585Red desaturation2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0011519Anomalous trichromacy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0011517Cone monochromacy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0011518Dichromacy2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0030585Red desaturation2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0011516Achromatopsia2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0030586Abnormal Ishihara plate test2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0000642Red-green dyschromatopsia2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0000551HP:0011516Achromatopsia2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0030586Abnormal Ishihara plate test2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0000642Red-green dyschromatopsia2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0000551HP:0030585Red desaturation2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0011519Anomalous trichromacy2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0011517Cone monochromacy2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0011518Dichromacy2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0030585Red desaturation2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0011519Anomalous trichromacy2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0011517Cone monochromacy2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0011518Dichromacy2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0030586Abnormal Ishihara plate test2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0000642Red-green dyschromatopsia2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0011516Achromatopsia2ADAM9 CL E G H87541872DiphalliaORPHA1315216602713
HP:0000551HP:0000642Red-green dyschromatopsia2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0011516Achromatopsia2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0030586Abnormal Ishihara plate test2ADAM9 CL E G H87541872DiphalliaORPHA1257216602713
HP:0000551HP:0030585Red desaturation2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0011519Anomalous trichromacy2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0011517Cone monochromacy2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0011518Dichromacy2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0030585Red desaturation2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0011519Anomalous trichromacy2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0011517Cone monochromacy2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0011518Dichromacy2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0000642Red-green dyschromatopsia2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0011516Achromatopsia2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0030586Abnormal Ishihara plate test2AIPL1 CL E G H237461872DiphalliaORPHA1374359604392
HP:0000551HP:0011516Achromatopsia2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0030586Abnormal Ishihara plate test2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0000642Red-green dyschromatopsia2AIPL1 CL E G H237461872DiphalliaORPHA1315359604392
HP:0000551HP:0030585Red desaturation2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0011519Anomalous trichromacy2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0011517Cone monochromacy2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0011518Dichromacy2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0011519Anomalous trichromacy2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0011517Cone monochromacy2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0011518Dichromacy2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0030585Red desaturation2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0011516Achromatopsia2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0030586Abnormal Ishihara plate test2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0000642Red-green dyschromatopsia2ATF6 CL E G H229261872DiphalliaORPHA1246791605537
HP:0000551HP:0011516Achromatopsia2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0030586Abnormal Ishihara plate test2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0000642Red-green dyschromatopsia2ATF6 CL E G H229261872DiphalliaORPHA1178791605537
HP:0000551HP:0030586Abnormal Ishihara plate test2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0000642Red-green dyschromatopsia2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0011516Achromatopsia2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0011518Dichromacy2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0030585Red desaturation2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0011519Anomalous trichromacy2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0011517Cone monochromacy2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0030585Red desaturation2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0011519Anomalous trichromacy2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0011517Cone monochromacy2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0011518Dichromacy2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0011518Dichromacy2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0030585Red desaturation2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0011519Anomalous trichromacy2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0011517Cone monochromacy2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0030585Red desaturation2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0011519Anomalous trichromacy2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0011517Cone monochromacy2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0011518Dichromacy2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2BEST1 CL E G H743999000ORPHA149912703607854
HP:0000551HP:0030586Abnormal Ishihara plate test2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0000642Red-green dyschromatopsia2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0011516Achromatopsia2BEST1 CL E G H74391243ORPHA159512703607854
HP:0000551HP:0030586Abnormal Ishihara plate test2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0000642Red-green dyschromatopsia2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0011516Achromatopsia2BEST1 CL E G H743999000ORPHA159512703607854
HP:0000551HP:0030586Abnormal Ishihara plate test2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0000642Red-green dyschromatopsia2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0011516Achromatopsia2BEST1 CL E G H74391243ORPHA149912703607854
HP:0000551HP:0030586Abnormal Ishihara plate test2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0000642Red-green dyschromatopsia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0011516Achromatopsia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0030586Abnormal Ishihara plate test2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0000642Red-green dyschromatopsia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0011516Achromatopsia2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0030585Red desaturation2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0011519Anomalous trichromacy2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0011517Cone monochromacy2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0011518Dichromacy2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0030585Red desaturation2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0011519Anomalous trichromacy2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0011517Cone monochromacy2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0011518Dichromacy2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000551HP:0011517Cone monochromacy2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0030585Red desaturation2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0011516Achromatopsia2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0030586Abnormal Ishihara plate test2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0011518Dichromacy2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0011519Anomalous trichromacy2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0000642Red-green dyschromatopsia2C8orf37 CL E G H1576571872DiphalliaORPHA127232614477
HP:0000551HP:0000642Red-green dyschromatopsia2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0011516Achromatopsia2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0030586Abnormal Ishihara plate test2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0000642Red-green dyschromatopsia2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0011516Achromatopsia2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0030586Abnormal Ishihara plate test2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0030585Red desaturation2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0011519Anomalous trichromacy2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0011517Cone monochromacy2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0011518Dichromacy2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11881375114760
HP:0000551HP:0030585Red desaturation2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0011519Anomalous trichromacy2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0011517Cone monochromacy2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0011518Dichromacy2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CA4 CL E G H762600852Retinitis pigmentosa 17600852C1833245OMIM11421375114760
HP:0000551HP:0011516Achromatopsia2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0011519Anomalous trichromacy2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0011517Cone monochromacy2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0011518Dichromacy2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0030585Red desaturation2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0011519Anomalous trichromacy2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0011517Cone monochromacy2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0011518Dichromacy2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0030585Red desaturation2CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000551HP:0011516Achromatopsia2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0011516Achromatopsia2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0011516Achromatopsia2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0030585Red desaturation2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0011519Anomalous trichromacy2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0011517Cone monochromacy2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0011518Dichromacy2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000551HP:0030585Red desaturation2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0011519Anomalous trichromacy2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0011517Cone monochromacy2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0011518Dichromacy2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000551HP:0011519Anomalous trichromacy2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0011517Cone monochromacy2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0011518Dichromacy2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0030585Red desaturation2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0011516Achromatopsia2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0011516Achromatopsia2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA1F CL E G H7781872DiphalliaORPHA16581393300110
HP:0000551HP:0011519Anomalous trichromacy2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0011517Cone monochromacy2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0011518Dichromacy2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0030585Red desaturation2CACNA1F CL E G H7781872DiphalliaORPHA18181393300110
HP:0000551HP:0011519Anomalous trichromacy2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0011517Cone monochromacy2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0011518Dichromacy2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0030585Red desaturation2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0011516Achromatopsia2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0030586Abnormal Ishihara plate test2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0000642Red-green dyschromatopsia2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0011516Achromatopsia2CACNA2D4 CL E G H935891872DiphalliaORPHA159320202608171
HP:0000551HP:0011519Anomalous trichromacy2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0011517Cone monochromacy2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0011518Dichromacy2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0030585Red desaturation2CACNA2D4 CL E G H935891872DiphalliaORPHA175720202608171
HP:0000551HP:0030586Abnormal Ishihara plate test2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0000642Red-green dyschromatopsia2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0011516Achromatopsia2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0030586Abnormal Ishihara plate test2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0000642Red-green dyschromatopsia2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0011516Achromatopsia2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0011518Dichromacy2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0030585Red desaturation2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0011519Anomalous trichromacy2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0011517Cone monochromacy2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM162314550609502
HP:0000551HP:0011518Dichromacy2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0030587Abnormal Hardy-Rand-Rittler plate test2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0030585Red desaturation2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0011519Anomalous trichromacy2CDHR1 CL E G H92211613660Cone-rod dystrophy 15613660C3150912OMIM149614550609502
HP:0000551HP:0011517<