Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
..Starting node
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Abnormality of retinal pigmentation (HP:0007703)help
Term ID: 7703
Name: Abnormality of retinal pigmentation
Synonym: Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Abnormality of the retinal pigment epithelium; Retinal pigmentary anomaly
Definition:
Comments:
Reference: HP:0007703
Genes and Diseases:
 
       Child Nodes:
........expandPigmentary retinopathy (HP:0000580) help
................... HP:0007737 Bone spicule pigmentation of the retina
................... HP:0030505 Nummular pigmentation of the fundus
........expandRetinal pigment epithelial mottling (HP:0007814) help
................... HP:0007793 Granular macular appearance

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAngioid streaks of the fundus (HP:0001102) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal detachment (HP:0000541) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) help
..expandRetinal thinning (HP:0030329) help
..expandRetinopathy (HP:0000488) help
..expandRetinoschisis (HP:0030502) help
..expandSub-RPE deposits (HP:0031531) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007703HP:0007703Abnormality of retinal pigmentation0ABCA4 CL E G H2434ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent826
HP:0007703HP:0007703Abnormality of retinal pigmentation0ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0007703HP:0007703Abnormality of retinal pigmentation0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0007703HP:0007703Abnormality of retinal pigmentation0ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0007703HP:0007703Abnormality of retinal pigmentation0ABCA4 CL E G H2434ORPHA:827Stargardt disease826
HP:0007703HP:0007703Abnormality of retinal pigmentation0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0007703HP:0007703Abnormality of retinal pigmentation0ADAM9 CL E G H8754216ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent41
HP:0007703HP:0007703Abnormality of retinal pigmentation0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0007703HP:0007703Abnormality of retinal pigmentation0AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0007703HP:0007703Abnormality of retinal pigmentation0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0007703HP:0007703Abnormality of retinal pigmentation0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0007703HP:0007703Abnormality of retinal pigmentation0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0007703HP:0007703Abnormality of retinal pigmentation0AIPL1 CL E G H23746359ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent114
HP:0007703HP:0007703Abnormality of retinal pigmentation0AIPL1 CL E G H23746359ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent114
HP:0007703HP:0007703Abnormality of retinal pigmentation0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0007703HP:0007703Abnormality of retinal pigmentation0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0007703HP:0007703Abnormality of retinal pigmentation0ALDH1A3 CL E G H220409ORPHA:35612NanophthalmosHP:0040283 - Occasional10
HP:0007703HP:0007703Abnormality of retinal pigmentation0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0007703HP:0007703Abnormality of retinal pigmentation0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0007703HP:0007703Abnormality of retinal pigmentation0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0007703HP:0007703Abnormality of retinal pigmentation0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0007703HP:0007703Abnormality of retinal pigmentation0APC CL E G H324583ORPHA:873Desmoid tumorHP:0040282 - Frequent3179
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0007703HP:0007703Abnormality of retinal pigmentation0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0007703HP:0007703Abnormality of retinal pigmentation0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0007703HP:0007703Abnormality of retinal pigmentation0ATF6 CL E G H22926791ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent10
HP:0007703HP:0007703Abnormality of retinal pigmentation0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa
HP:0007703HP:0007703Abnormality of retinal pigmentation0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS2 CL E G H583967OMIM:616562Retinitis pigmentosa 7497
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0007703HP:0007703Abnormality of retinal pigmentation0BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0007703HP:0007703Abnormality of retinal pigmentation0BEST1 CL E G H743912703ORPHA:35612NanophthalmosHP:0040283 - Occasional182
HP:0007703HP:0007703Abnormality of retinal pigmentation0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0007703HP:0007703Abnormality of retinal pigmentation0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0007703HP:0007703Abnormality of retinal pigmentation0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0007703HP:0007703Abnormality of retinal pigmentation0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare94
HP:0007703HP:0007703Abnormality of retinal pigmentation0CACNA1F CL E G H7781393ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent58
HP:0007703HP:0007703Abnormality of retinal pigmentation0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare58
HP:0007703HP:0007703Abnormality of retinal pigmentation0CACNA2D4 CL E G H9358920202ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent129
HP:0007703HP:0007703Abnormality of retinal pigmentation0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare129
HP:0007703HP:0007703Abnormality of retinal pigmentation0CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0007703HP:0007703Abnormality of retinal pigmentation0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0007703HP:0007703Abnormality of retinal pigmentation0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040283 - Occasional242
HP:0007703HP:0007703Abnormality of retinal pigmentation0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0007703HP:0007703Abnormality of retinal pigmentation0CDH3 CL E G H10011762ORPHA:1897EEM syndromeHP:0040281 - Very frequent87
HP:0007703HP:0007703Abnormality of retinal pigmentation0CDHR1 CL E G H9221114550ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent147
HP:0007703HP:0007703Abnormality of retinal pigmentation0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0007703HP:0007703Abnormality of retinal pigmentation0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0007703HP:0007703Abnormality of retinal pigmentation0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent34
HP:0007703HP:0007703Abnormality of retinal pigmentation0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0007703HP:0007703Abnormality of retinal pigmentation0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0007703HP:0007703Abnormality of retinal pigmentation0CEP290 CL E G H8018429021ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent342
HP:0007703HP:0007703Abnormality of retinal pigmentation0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent342
HP:0007703HP:0007703Abnormality of retinal pigmentation0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0007703HP:0007703Abnormality of retinal pigmentation0CFAP410 CL E G H7551260ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0CFAP418 CL E G H15765727232ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0007703HP:0007703Abnormality of retinal pigmentation0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040282 - Frequent86
HP:0007703HP:0007703Abnormality of retinal pigmentation0CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040282 - Frequent57
HP:0007703HP:0007703Abnormality of retinal pigmentation0CHM CL E G H11211940ORPHA:180ChoroideremiaHP:0040281 - Very frequent47
HP:0007703HP:0007703Abnormality of retinal pigmentation0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007703HP:0007703Abnormality of retinal pigmentation0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0007703HP:0007703Abnormality of retinal pigmentation0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0007703HP:0007703Abnormality of retinal pigmentation0CLDN19 CL E G H1494612040ORPHA:2196Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementHP:0040281 - Very frequent42
HP:0007703HP:0007703Abnormality of retinal pigmentation0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0007703HP:0007703Abnormality of retinal pigmentation0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0007703HP:0007703Abnormality of retinal pigmentation0CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGA3 CL E G H12612150ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent82
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45164
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGB3 CL E G H547142153ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent194
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNGB3 CL E G H547142153ORPHA:827Stargardt disease194
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0007703HP:0007703Abnormality of retinal pigmentation0CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040281 - Very frequent61
HP:0007703HP:0007703Abnormality of retinal pigmentation0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0007703HP:0007703Abnormality of retinal pigmentation0COX1 CL E G H45127419ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0007703HP:0007703Abnormality of retinal pigmentation0COX2 CL E G H45137421ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0COX3 CL E G H45147422ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent6
HP:0007703HP:0007703Abnormality of retinal pigmentation0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0007703HP:0007703Abnormality of retinal pigmentation0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0007703HP:0007703Abnormality of retinal pigmentation0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRB1 CL E G H234182343ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent156
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRB1 CL E G H234182343ORPHA:35612NanophthalmosHP:0040283 - Occasional156
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy156
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRX CL E G H14062383ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent158
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRX CL E G H14062383ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent158
HP:0007703HP:0007703Abnormality of retinal pigmentation0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0007703HP:0007703Abnormality of retinal pigmentation0CTNNB1 CL E G H14992514ORPHA:873Desmoid tumorHP:0040282 - Frequent88
HP:0007703HP:0007703Abnormality of retinal pigmentation0CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type178
HP:0007703HP:0007703Abnormality of retinal pigmentation0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0007703HP:0007703Abnormality of retinal pigmentation0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosis178
HP:0007703HP:0007703Abnormality of retinal pigmentation0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophy126
HP:0007703HP:0007703Abnormality of retinal pigmentation0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0007703HP:0007703Abnormality of retinal pigmentation0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0007703HP:0007703Abnormality of retinal pigmentation0DRAM2 CL E G H12833828769ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent9
HP:0007703HP:0007703Abnormality of retinal pigmentation0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040283 - Occasional304
HP:0007703HP:0007703Abnormality of retinal pigmentation0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0007703HP:0007703Abnormality of retinal pigmentation0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0007703HP:0007703Abnormality of retinal pigmentation0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0007703HP:0007703Abnormality of retinal pigmentation0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0007703HP:0007703Abnormality of retinal pigmentation0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional67
HP:0007703HP:0007703Abnormality of retinal pigmentation0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional55
HP:0007703HP:0007703Abnormality of retinal pigmentation0EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040282 - Frequent54
HP:0007703HP:0007703Abnormality of retinal pigmentation0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040282 - Frequent3
HP:0007703HP:0007703Abnormality of retinal pigmentation0ELOVL4 CL E G H678514415ORPHA:827Stargardt disease62
HP:0007703HP:0007703Abnormality of retinal pigmentation0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040281 - Very frequent40
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040283 - Occasional20
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040283 - Occasional106
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040283 - Occasional83
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040283 - Occasional199
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0007703HP:0007703Abnormality of retinal pigmentation0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0007703HP:0007703Abnormality of retinal pigmentation0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0007703HP:0007703Abnormality of retinal pigmentation0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0007703HP:0007703Abnormality of retinal pigmentation0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0007703HP:0007703Abnormality of retinal pigmentation0FAM161A CL E G H8414025808OMIM:606068RETINITIS PIGMENTOSA 28; RP2856
HP:0007703HP:0007703Abnormality of retinal pigmentation0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0007703HP:0007703Abnormality of retinal pigmentation0FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndromeHP:0040282 - Frequent332
HP:0007703HP:0007703Abnormality of retinal pigmentation0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0007703HP:0007703Abnormality of retinal pigmentation0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0007703HP:0007703Abnormality of retinal pigmentation0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0007703HP:0007703Abnormality of retinal pigmentation0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0007703HP:0007703Abnormality of retinal pigmentation0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0007703HP:0007703Abnormality of retinal pigmentation0FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0007703HP:0007703Abnormality of retinal pigmentation0GDF6 CL E G H3922554221ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent64
HP:0007703HP:0007703Abnormality of retinal pigmentation0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0007703HP:0007703Abnormality of retinal pigmentation0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare39
HP:0007703HP:0007703Abnormality of retinal pigmentation0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0007703HP:0007703Abnormality of retinal pigmentation0GNAT2 CL E G H27804394ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent19
HP:0007703HP:0007703Abnormality of retinal pigmentation0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare5
HP:0007703HP:0007703Abnormality of retinal pigmentation0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare124
HP:0007703HP:0007703Abnormality of retinal pigmentation0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare4
HP:0007703HP:0007703Abnormality of retinal pigmentation0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare63
HP:0007703HP:0007703Abnormality of retinal pigmentation0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency39
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCA1A CL E G H29784678ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent24
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCA1A CL E G H29784678ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent24
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCY2D CL E G H30004689OMIM:215500Choroidal dystrophy, central areolar 1124
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCY2D CL E G H30004689ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent124
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCY2D CL E G H30004689ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent124
HP:0007703HP:0007703Abnormality of retinal pigmentation0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I124
HP:0007703HP:0007703Abnormality of retinal pigmentation0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0007703HP:0007703Abnormality of retinal pigmentation0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0007703HP:0007703Abnormality of retinal pigmentation0HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency99
HP:0007703HP:0007703Abnormality of retinal pigmentation0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0007703HP:0007703Abnormality of retinal pigmentation0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0007703HP:0007703Abnormality of retinal pigmentation0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0007703HP:0007703Abnormality of retinal pigmentation0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0007703HP:0007703Abnormality of retinal pigmentation0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent11
HP:0007703HP:0007703Abnormality of retinal pigmentation0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0007703HP:0007703Abnormality of retinal pigmentation0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0007703HP:0007703Abnormality of retinal pigmentation0HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0007703HP:0007703Abnormality of retinal pigmentation0HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0007703HP:0007703Abnormality of retinal pigmentation0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0007703HP:0007703Abnormality of retinal pigmentation0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0007703HP:0007703Abnormality of retinal pigmentation0IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0007703HP:0007703Abnormality of retinal pigmentation0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0007703HP:0007703Abnormality of retinal pigmentation0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0007703HP:0007703Abnormality of retinal pigmentation0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040283 - Occasional148
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT140 CL E G H974229077ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent148
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040283 - Occasional48
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040283 - Occasional65
HP:0007703HP:0007703Abnormality of retinal pigmentation0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0007703HP:0007703Abnormality of retinal pigmentation0IMPDH1 CL E G H36146052ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent52
HP:0007703HP:0007703Abnormality of retinal pigmentation0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0007703HP:0007703Abnormality of retinal pigmentation0IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0007703HP:0007703Abnormality of retinal pigmentation0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0007703HP:0007703Abnormality of retinal pigmentation0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0007703HP:0007703Abnormality of retinal pigmentation0IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0007703HP:0007703Abnormality of retinal pigmentation0INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent106
HP:0007703HP:0007703Abnormality of retinal pigmentation0IQCB1 CL E G H965728949ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent61
HP:0007703HP:0007703Abnormality of retinal pigmentation0IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0007703HP:0007703Abnormality of retinal pigmentation0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 51
HP:0007703HP:0007703Abnormality of retinal pigmentation0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0007703HP:0007703Abnormality of retinal pigmentation0KCNJ13 CL E G H37696259ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent42
HP:0007703HP:0007703Abnormality of retinal pigmentation0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0007703HP:0007703Abnormality of retinal pigmentation0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040282 - Frequent46
HP:0007703HP:0007703Abnormality of retinal pigmentation0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0007703HP:0007703Abnormality of retinal pigmentation0KIZ CL E G H5585715865OMIM:615780Retinitis pigmentosa 69.3
HP:0007703HP:0007703Abnormality of retinal pigmentation0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0007703HP:0007703Abnormality of retinal pigmentation0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0007703HP:0007703Abnormality of retinal pigmentation0LCA5 CL E G H16769131923ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent70
HP:0007703HP:0007703Abnormality of retinal pigmentation0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0007703HP:0007703Abnormality of retinal pigmentation0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0007703HP:0007703Abnormality of retinal pigmentation0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0007703HP:0007703Abnormality of retinal pigmentation0LRAT CL E G H92276685ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent62
HP:0007703HP:0007703Abnormality of retinal pigmentation0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0007703HP:0007703Abnormality of retinal pigmentation0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0007703HP:0007703Abnormality of retinal pigmentation0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare54
HP:0007703HP:0007703Abnormality of retinal pigmentation0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0007703HP:0007703Abnormality of retinal pigmentation0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0007703HP:0007703Abnormality of retinal pigmentation0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0007703HP:0007703Abnormality of retinal pigmentation0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0007703HP:0007703Abnormality of retinal pigmentation0MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0007703HP:0007703Abnormality of retinal pigmentation0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0007703HP:0007703Abnormality of retinal pigmentation0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040283 - Occasional78
HP:0007703HP:0007703Abnormality of retinal pigmentation0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0007703HP:0007703Abnormality of retinal pigmentation0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0007703HP:0007703Abnormality of retinal pigmentation0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0007703HP:0007703Abnormality of retinal pigmentation0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0007703HP:0007703Abnormality of retinal pigmentation0MFRP CL E G H8355218121ORPHA:35612NanophthalmosHP:0040283 - Occasional26
HP:0007703HP:0007703Abnormality of retinal pigmentation0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7120
HP:0007703HP:0007703Abnormality of retinal pigmentation0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional91
HP:0007703HP:0007703Abnormality of retinal pigmentation0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0007703HP:0007703Abnormality of retinal pigmentation0MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 669
HP:0007703HP:0007703Abnormality of retinal pigmentation0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0007703HP:0007703Abnormality of retinal pigmentation0MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0007703HP:0007703Abnormality of retinal pigmentation0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0007703HP:0007703Abnormality of retinal pigmentation0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC101
HP:0007703HP:0007703Abnormality of retinal pigmentation0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type101
HP:0007703HP:0007703Abnormality of retinal pigmentation0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0007703HP:0007703Abnormality of retinal pigmentation0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0007703HP:0007703Abnormality of retinal pigmentation0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0007703HP:0007703Abnormality of retinal pigmentation0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0007703HP:0007703Abnormality of retinal pigmentation0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0007703HP:0007703Abnormality of retinal pigmentation0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND1 CL E G H45357455ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND4 CL E G H45387459ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND5 CL E G H45407461ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND6 CL E G H45417462ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent3
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0007703HP:0007703Abnormality of retinal pigmentation0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0007703HP:0007703Abnormality of retinal pigmentation0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0007703HP:0007703Abnormality of retinal pigmentation0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0007703HP:0007703Abnormality of retinal pigmentation0NMNAT1 CL E G H6480217877ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent15
HP:0007703HP:0007703Abnormality of retinal pigmentation0NMNAT1 CL E G H6480217877ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent15
HP:0007703HP:0007703Abnormality of retinal pigmentation0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0007703HP:0007703Abnormality of retinal pigmentation0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0007703HP:0007703Abnormality of retinal pigmentation0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0007703HP:0007703Abnormality of retinal pigmentation0NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent85
HP:0007703HP:0007703Abnormality of retinal pigmentation0NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent157
HP:0007703HP:0007703Abnormality of retinal pigmentation0NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent220
HP:0007703HP:0007703Abnormality of retinal pigmentation0NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome58
HP:0007703HP:0007703Abnormality of retinal pigmentation0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0007703HP:0007703Abnormality of retinal pigmentation0NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 3758
HP:0007703HP:0007703Abnormality of retinal pigmentation0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0007703HP:0007703Abnormality of retinal pigmentation0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare42
HP:0007703HP:0007703Abnormality of retinal pigmentation0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0007703HP:0007703Abnormality of retinal pigmentation0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0007703HP:0007703Abnormality of retinal pigmentation0OPN1LW CL E G H59569936ORPHA:16Blue cone monochromatismHP:0040283 - Occasional7
HP:0007703HP:0007703Abnormality of retinal pigmentation0OPN1LW CL E G H59569936ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent7
HP:0007703HP:0007703Abnormality of retinal pigmentation0OPN1MW CL E G H26524206ORPHA:16Blue cone monochromatismHP:0040283 - Occasional5
HP:0007703HP:0007703Abnormality of retinal pigmentation0OPN1MW CL E G H26524206ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent5
HP:0007703HP:0007703Abnormality of retinal pigmentation0OTX2 CL E G H50158522ORPHA:35612NanophthalmosHP:0040283 - Occasional41
HP:0007703HP:0007703Abnormality of retinal pigmentation0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegeneration55
HP:0007703HP:0007703Abnormality of retinal pigmentation0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0007703HP:0007703Abnormality of retinal pigmentation0PAX6 CL E G H50808620ORPHA:35737Morning glory disc anomalyHP:0040281 - Very frequent194
HP:0007703HP:0007703Abnormality of retinal pigmentation0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54
HP:0007703HP:0007703Abnormality of retinal pigmentation0PCYT1A CL E G H51308754ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent11
HP:0007703HP:0007703Abnormality of retinal pigmentation0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040281 - Very frequent11
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare126
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6C CL E G H51468787ORPHA:1871Progressive cone dystrophyHP:0040281 - Very frequent80
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 5718
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0007703HP:0007703Abnormality of retinal pigmentation0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0007703HP:0007703Abnormality of retinal pigmentation0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent169
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent75
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent4
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent65
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent66
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent46
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent59
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent62
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent82
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent106
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent47
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent99
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent98
HP:0007703HP:0007703Abnormality of retinal pigmentation0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040281 - Very frequent72
HP:0007703HP:0007703Abnormality of retinal pigmentation0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040281 - Very frequent45
HP:0007703HP:0007703Abnormality of retinal pigmentation0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0007703HP:0007703Abnormality of retinal pigmentation0PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0007703HP:0007703Abnormality of retinal pigmentation0PITPNM3 CL E G H8339421043ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent135
HP:0007703HP:0007703Abnormality of retinal pigmentation0PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5135
HP:0007703HP:0007703Abnormality of retinal pigmentation0PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040281 - Very frequent11
HP:0007703HP:0007703Abnormality of retinal pigmentation0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent103
HP:0007703HP:0007703Abnormality of retinal pigmentation0PNPLA6 CL E G H1090816268OMIM:245800Laurence-Moon syndrome103
HP:0007703HP:0007703Abnormality of retinal pigmentation0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0007703HP:0007703Abnormality of retinal pigmentation0POC1B CL E G H28280930836ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent3
HP:0007703HP:0007703Abnormality of retinal pigmentation0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0007703HP:0007703Abnormality of retinal pigmentation0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0007703HP:0007703Abnormality of retinal pigmentation0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0007703HP:0007703Abnormality of retinal pigmentation0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0007703HP:0007703Abnormality of retinal pigmentation0POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0007703HP:0007703Abnormality of retinal pigmentation0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0007703HP:0007703Abnormality of retinal pigmentation0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0007703HP:0007703Abnormality of retinal pigmentation0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type
HP:0007703HP:0007703Abnormality of retinal pigmentation0PROM1 CL E G H88429454ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent110
HP:0007703HP:0007703Abnormality of retinal pigmentation0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2110
HP:0007703HP:0007703Abnormality of retinal pigmentation0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0007703HP:0007703Abnormality of retinal pigmentation0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0007703HP:0007703Abnormality of retinal pigmentation0PROM1 CL E G H88429454ORPHA:827Stargardt disease110
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPH2 CL E G H59619942ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent159
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescens159
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRPH2 CL E G H59619942ORPHA:827Stargardt disease159
HP:0007703HP:0007703Abnormality of retinal pigmentation0PRSS56 CL E G H64696039433ORPHA:35612NanophthalmosHP:0040283 - Occasional11
HP:0007703HP:0007703Abnormality of retinal pigmentation0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0007703HP:0007703Abnormality of retinal pigmentation0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040282 - Frequent85
HP:0007703HP:0007703Abnormality of retinal pigmentation0RAB28 CL E G H93649768ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent6
HP:0007703HP:0007703Abnormality of retinal pigmentation0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040282 - Frequent90
HP:0007703HP:0007703Abnormality of retinal pigmentation0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040282 - Frequent135
HP:0007703HP:0007703Abnormality of retinal pigmentation0RAX CL E G H3006218662ORPHA:35612NanophthalmosHP:0040283 - Occasional43
HP:0007703HP:0007703Abnormality of retinal pigmentation0RAX2 CL E G H8483918286OMIM:62010252
HP:0007703HP:0007703Abnormality of retinal pigmentation0RAX2 CL E G H8483918286ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent52
HP:0007703HP:0007703Abnormality of retinal pigmentation0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0007703HP:0007703Abnormality of retinal pigmentation0RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0007703HP:0007703Abnormality of retinal pigmentation0RD3 CL E G H34303519689ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent95
HP:0007703HP:0007703Abnormality of retinal pigmentation0RDH12 CL E G H14522619977ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent45
HP:0007703HP:0007703Abnormality of retinal pigmentation0RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 1345
HP:0007703HP:0007703Abnormality of retinal pigmentation0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0007703HP:0007703Abnormality of retinal pigmentation0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescens32
HP:0007703HP:0007703Abnormality of retinal pigmentation0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0007703HP:0007703Abnormality of retinal pigmentation0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0007703HP:0007703Abnormality of retinal pigmentation0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare107
HP:0007703HP:0007703Abnormality of retinal pigmentation0RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0007703HP:0007703Abnormality of retinal pigmentation0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0007703HP:0007703Abnormality of retinal pigmentation0RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4107
HP:0007703HP:0007703Abnormality of retinal pigmentation0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescens107
HP:0007703HP:0007703Abnormality of retinal pigmentation0RIMS1 CL E G H2299917282ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent102
HP:0007703HP:0007703Abnormality of retinal pigmentation0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophy47
HP:0007703HP:0007703Abnormality of retinal pigmentation0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0007703HP:0007703Abnormality of retinal pigmentation0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescens47
HP:0007703HP:0007703Abnormality of retinal pigmentation0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0007703HP:0007703Abnormality of retinal pigmentation0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0007703HP:0007703Abnormality of retinal pigmentation0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent10
HP:0007703HP:0007703Abnormality of retinal pigmentation0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0007703HP:0007703Abnormality of retinal pigmentation0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040282 - Frequent15
HP:0007703HP:0007703Abnormality of retinal pigmentation0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0007703HP:0007703Abnormality of retinal pigmentation0ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0007703HP:0007703Abnormality of retinal pigmentation0RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 914
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPE65 CL E G H612110294ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent129
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II129
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPGR CL E G H610310295ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent200
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPGRIP1 CL E G H5709613436ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent109
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPGRIP1 CL E G H5709613436ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent109
HP:0007703HP:0007703Abnormality of retinal pigmentation0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0007703HP:0007703Abnormality of retinal pigmentation0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0007703HP:0007703Abnormality of retinal pigmentation0RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent125
HP:0007703HP:0007703Abnormality of retinal pigmentation0RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0007703HP:0007703Abnormality of retinal pigmentation0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare32
HP:0007703HP:0007703Abnormality of retinal pigmentation0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0007703HP:0007703Abnormality of retinal pigmentation0SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0007703HP:0007703Abnormality of retinal pigmentation0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0007703HP:0007703Abnormality of retinal pigmentation0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent61
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophy304
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0007703HP:0007703Abnormality of retinal pigmentation0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0007703HP:0007703Abnormality of retinal pigmentation0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0007703HP:0007703Abnormality of retinal pigmentation0SEMA4A CL E G H6421810729ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent48
HP:0007703HP:0007703Abnormality of retinal pigmentation0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 1048
HP:0007703HP:0007703Abnormality of retinal pigmentation0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0007703HP:0007703Abnormality of retinal pigmentation0SIX6 CL E G H499010892ORPHA:35612NanophthalmosHP:0040283 - Occasional20
HP:0007703HP:0007703Abnormality of retinal pigmentation0SLC12A6 CL E G H999010914ORPHA:1496Corpus callosum agenesis-neuronopathy syndromeHP:0040283 - Occasional163
HP:0007703HP:0007703Abnormality of retinal pigmentation0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophy110
HP:0007703HP:0007703Abnormality of retinal pigmentation0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare66
HP:0007703HP:0007703Abnormality of retinal pigmentation0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040281 - Very frequent42
HP:0007703HP:0007703Abnormality of retinal pigmentation0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0007703HP:0007703Abnormality of retinal pigmentation0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0007703HP:0007703Abnormality of retinal pigmentation0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0007703HP:0007703Abnormality of retinal pigmentation0SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0007703HP:0007703Abnormality of retinal pigmentation0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040283 - Occasional61
HP:0007703HP:0007703Abnormality of retinal pigmentation0SOX2 CL E G H665711195ORPHA:35612NanophthalmosHP:0040283 - Occasional33
HP:0007703HP:0007703Abnormality of retinal pigmentation0SPATA7 CL E G H5581220423ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent48
HP:0007703HP:0007703Abnormality of retinal pigmentation0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0007703HP:0007703Abnormality of retinal pigmentation0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0007703HP:0007703Abnormality of retinal pigmentation0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040282 - Frequent80
HP:0007703HP:0007703Abnormality of retinal pigmentation0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophy73
HP:0007703HP:0007703Abnormality of retinal pigmentation0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0007703HP:0007703Abnormality of retinal pigmentation0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophy23
HP:0007703HP:0007703Abnormality of retinal pigmentation0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040283 - Occasional7
HP:0007703HP:0007703Abnormality of retinal pigmentation0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040282 - Frequent15
HP:0007703HP:0007703Abnormality of retinal pigmentation0TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophy95
HP:0007703HP:0007703Abnormality of retinal pigmentation0TLCD3B CL E G H8372325295ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0TMEM98 CL E G H2602224529ORPHA:35612NanophthalmosHP:0040283 - Occasional3
HP:0007703HP:0007703Abnormality of retinal pigmentation0TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent72
HP:0007703HP:0007703Abnormality of retinal pigmentation0TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget diseaseHP:0040282 - Frequent44
HP:0007703HP:0007703Abnormality of retinal pigmentation0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent6
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNF CL E G H45587481ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNH CL E G H45647487ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndromeHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNW CL E G H45787501ORPHA:550MELAS
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0007703HP:0007703Abnormality of retinal pigmentation0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040284 - Very rare104
HP:0007703HP:0007703Abnormality of retinal pigmentation0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040283 - Occasional132
HP:0007703HP:0007703Abnormality of retinal pigmentation0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0007703HP:0007703Abnormality of retinal pigmentation0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0007703HP:0007703Abnormality of retinal pigmentation0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 5141
HP:0007703HP:0007703Abnormality of retinal pigmentation0TTLL5 CL E G H2309319963ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent9
HP:0007703HP:0007703Abnormality of retinal pigmentation0TTPA CL E G H727412404ORPHA:96Ataxia with vitamin E deficiencyHP:0040283 - Occasional62
HP:0007703HP:0007703Abnormality of retinal pigmentation0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0007703HP:0007703Abnormality of retinal pigmentation0TUBB4B CL E G H1038320771ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness
HP:0007703HP:0007703Abnormality of retinal pigmentation0TUBGCP4 CL E G H2722916691ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040281 - Very frequent14
HP:0007703HP:0007703Abnormality of retinal pigmentation0TUBGCP6 CL E G H8537818127ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040281 - Very frequent61
HP:0007703HP:0007703Abnormality of retinal pigmentation0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0007703HP:0007703Abnormality of retinal pigmentation0TULP1 CL E G H728712423ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent66
HP:0007703HP:0007703Abnormality of retinal pigmentation0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 1566
HP:0007703HP:0007703Abnormality of retinal pigmentation0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0007703HP:0007703Abnormality of retinal pigmentation0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0007703HP:0007703Abnormality of retinal pigmentation0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0007703HP:0007703Abnormality of retinal pigmentation0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0007703HP:0007703Abnormality of retinal pigmentation0UNC119 CL E G H909412565ORPHA:1872Cone rod dystrophyHP:0040281 - Very frequent30
HP:0007703HP:0007703Abnormality of retinal pigmentation0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0007703HP:0007703Abnormality of retinal pigmentation0USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39777
HP:0007703HP:0007703Abnormality of retinal pigmentation0USP45 CL E G H8501520080ORPHA:65Leber congenital amaurosisHP:0040281 - Very frequent
HP:0007703HP:0007703Abnormality of retinal pigmentation0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0007703HP:0007703Abnormality of retinal pigmentation0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0007703HP:0007703Abnormality of retinal pigmentation0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0007703HP:0007703Abnormality of retinal pigmentation0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0007703HP:0007703Abnormality of retinal pigmentation0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0007703HP:0007703Abnormality of retinal pigmentation0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040283 - Occasional95
HP:0007703HP:0007703Abnormality of retinal pigmentation0WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndromeHP:0040281 - Very frequent95
HP:0007703HP:0007703Abnormality of retinal pigmentation0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1389
HP:0007703HP:0007703Abnormality of retinal pigmentation0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0007703HP:0007703Abnormality of retinal pigmentation0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0007703HP:0007703Abnormality of retinal pigmentation0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0007703HP:0007703Abnormality of retinal pigmentation0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0007703HP:0007703Abnormality of retinal pigmentation0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0007703HP:0007703Abnormality of retinal pigmentation0ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 5827
HP:0007703HP:0000580Pigmentary retinopathy1ABCA4 CL E G H2434OMIM:604116CONE-ROD DYSTROPHY 3; CORD3826
HP:0007703HP:0000580Pigmentary retinopathy1ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19826
HP:0007703HP:0007814Retinal pigment epithelial mottling1ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040281 - Very frequent826
HP:0007703HP:0000580Pigmentary retinopathy1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0007703HP:0000580Pigmentary retinopathy1AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0007703HP:0000580Pigmentary retinopathy1AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0007703HP:0000580Pigmentary retinopathy1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0007703HP:0000580Pigmentary retinopathy1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0007703HP:0000580Pigmentary retinopathy1AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiencyHP:0040282 - Frequent44
HP:0007703HP:0000580Pigmentary retinopathy1AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0007703HP:0000580Pigmentary retinopathy1ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0007703HP:0000580Pigmentary retinopathy1ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0007703HP:0000580Pigmentary retinopathy1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent29
HP:0007703HP:0000580Pigmentary retinopathy1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0007703HP:0000580Pigmentary retinopathy1ARL6 CL E G H8410013210OMIM:600151Bardet-Biedl syndrome 329
HP:0007703HP:0000580Pigmentary retinopathy1ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0007703HP:0007814Retinal pigment epithelial mottling1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040283 - Occasional10
HP:0007703HP:0000580Pigmentary retinopathy1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0007814Retinal pigment epithelial mottling1ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0007703HP:0007814Retinal pigment epithelial mottling1ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0007703HP:0000580Pigmentary retinopathy1ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0007703HP:0000580Pigmentary retinopathy1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0007703HP:0000580Pigmentary retinopathy1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent114
HP:0007703HP:0000580Pigmentary retinopathy1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0007703HP:0000580Pigmentary retinopathy1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent118
HP:0007703HP:0000580Pigmentary retinopathy1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent71
HP:0007703HP:0000580Pigmentary retinopathy1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent97
HP:0007703HP:0000580Pigmentary retinopathy1BBS2 CL E G H583967OMIM:616562Retinitis pigmentosa 74.97
HP:0007703HP:0000580Pigmentary retinopathy1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent87
HP:0007703HP:0000580Pigmentary retinopathy1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent25
HP:0007703HP:0000580Pigmentary retinopathy1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent66
HP:0007703HP:0000580Pigmentary retinopathy1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent119
HP:0007703HP:0000580Pigmentary retinopathy1BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0007703HP:0000580Pigmentary retinopathy1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0007703HP:0007814Retinal pigment epithelial mottling1CACNA2D4 CL E G H9358920202OMIM:610478Retinal cone dystrophy 4129
HP:0007703HP:0000580Pigmentary retinopathy1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0007703HP:0000580Pigmentary retinopathy1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0007703HP:0000580Pigmentary retinopathy1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0007703HP:0000580Pigmentary retinopathy1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent342
HP:0007703HP:0000580Pigmentary retinopathy1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0007703HP:0000580Pigmentary retinopathy1CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0007703HP:0007814Retinal pigment epithelial mottling1CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0007703HP:0007814Retinal pigment epithelial mottling1CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0007703HP:0000580Pigmentary retinopathy1CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007703HP:0007814Retinal pigment epithelial mottling1CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007703HP:0000580Pigmentary retinopathy1CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0007703HP:0007814Retinal pigment epithelial mottling1CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0007703HP:0000580Pigmentary retinopathy1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0007703HP:0000580Pigmentary retinopathy1CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0007703HP:0000580Pigmentary retinopathy1CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0007703HP:0007814Retinal pigment epithelial mottling1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040283 - Occasional82
HP:0007703HP:0000580Pigmentary retinopathy1CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45164
HP:0007703HP:0007814Retinal pigment epithelial mottling1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040283 - Occasional194
HP:0007703HP:0007814Retinal pigment epithelial mottling1CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040281 - Very frequent194
HP:0007703HP:0007814Retinal pigment epithelial mottling1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0007703HP:0000580Pigmentary retinopathy1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0007703HP:0000580Pigmentary retinopathy1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0007703HP:0000580Pigmentary retinopathy1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0007703HP:0000580Pigmentary retinopathy1COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0007703HP:0000580Pigmentary retinopathy1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0007703HP:0000580Pigmentary retinopathy1CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy156
HP:0007703HP:0000580Pigmentary retinopathy1CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0007703HP:0000580Pigmentary retinopathy1CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0007703HP:0007814Retinal pigment epithelial mottling1CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type178
HP:0007703HP:0007814Retinal pigment epithelial mottling1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0007703HP:0000580Pigmentary retinopathy1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0007703HP:0000580Pigmentary retinopathy1CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040282 - Frequent178
HP:0007703HP:0000580Pigmentary retinopathy1CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0007703HP:0007814Retinal pigment epithelial mottling1CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040283 - Occasional126
HP:0007703HP:0007814Retinal pigment epithelial mottling1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0007703HP:0000580Pigmentary retinopathy1ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0007703HP:0007814Retinal pigment epithelial mottling1EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0007703HP:0007814Retinal pigment epithelial mottling1ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040281 - Very frequent62
HP:0007703HP:0000580Pigmentary retinopathy1ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0007703HP:0000580Pigmentary retinopathy1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0007703HP:0000580Pigmentary retinopathy1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0007703HP:0000580Pigmentary retinopathy1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0007703HP:0000580Pigmentary retinopathy1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0007703HP:0007814Retinal pigment epithelial mottling1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0007703HP:0000580Pigmentary retinopathy1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0007703HP:0000580Pigmentary retinopathy1EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0007703HP:0000580Pigmentary retinopathy1FAM161A CL E G H8414025808OMIM:606068RETINITIS PIGMENTOSA 28; RP2856
HP:0007703HP:0000580Pigmentary retinopathy1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0007703HP:0000580Pigmentary retinopathy1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0007703HP:0000580Pigmentary retinopathy1FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0007703HP:0000580Pigmentary retinopathy1FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0007703HP:0000580Pigmentary retinopathy1FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0007703HP:0000580Pigmentary retinopathy1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0007703HP:0007814Retinal pigment epithelial mottling1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040283 - Occasional19
HP:0007703HP:0000580Pigmentary retinopathy1GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0007703HP:0007814Retinal pigment epithelial mottling1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional24
HP:0007703HP:0007814Retinal pigment epithelial mottling1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional124
HP:0007703HP:0000580Pigmentary retinopathy1GUCY2D CL E G H30004689OMIM:215500Choroidal dystrophy, central areolar 1124
HP:0007703HP:0000580Pigmentary retinopathy1GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0007703HP:0000580Pigmentary retinopathy1GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0007703HP:0000580Pigmentary retinopathy1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0007703HP:0000580Pigmentary retinopathy1HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency.99
HP:0007703HP:0000580Pigmentary retinopathy1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0007703HP:0000580Pigmentary retinopathy1HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0007703HP:0000580Pigmentary retinopathy1HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0007703HP:0000580Pigmentary retinopathy1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0007703HP:0000580Pigmentary retinopathy1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0007703HP:0000580Pigmentary retinopathy1HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0007703HP:0000580Pigmentary retinopathy1HKDC1 CL E G H8020123302OMIM:619614RETINITIS PIGMENTOSA 92; RP922
HP:0007703HP:0000580Pigmentary retinopathy1IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0007703HP:0000580Pigmentary retinopathy1IDH3B CL E G H34205385OMIM:612572RETINITIS PIGMENTOSA 46; RP4630
HP:0007703HP:0000580Pigmentary retinopathy1IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0007703HP:0000580Pigmentary retinopathy1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent48
HP:0007703HP:0000580Pigmentary retinopathy1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent1
HP:0007703HP:0007814Retinal pigment epithelial mottling1IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly4
HP:0007703HP:0000580Pigmentary retinopathy1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent3
HP:0007703HP:0000580Pigmentary retinopathy1IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 1052
HP:0007703HP:0000580Pigmentary retinopathy1IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0007703HP:0000580Pigmentary retinopathy1ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5HP:0040284 - Very rare1
HP:0007703HP:0000580Pigmentary retinopathy1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0007703HP:0000580Pigmentary retinopathy1KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0007703HP:0000580Pigmentary retinopathy1KIZ CL E G H5585715865OMIM:615780Retinitis pigmentosa 69.3
HP:0007703HP:0000580Pigmentary retinopathy1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0007703HP:0007814Retinal pigment epithelial mottling1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0007703HP:0000580Pigmentary retinopathy1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0007703HP:0000580Pigmentary retinopathy1LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0007703HP:0000580Pigmentary retinopathy1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0007703HP:0007814Retinal pigment epithelial mottling1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0007703HP:0000580Pigmentary retinopathy1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent4
HP:0007703HP:0000580Pigmentary retinopathy1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0007703HP:0000580Pigmentary retinopathy1MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0007703HP:0000580Pigmentary retinopathy1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0007703HP:0000580Pigmentary retinopathy1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0007703HP:0000580Pigmentary retinopathy1MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0007703HP:0000580Pigmentary retinopathy1MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7120
HP:0007703HP:0000580Pigmentary retinopathy1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent69
HP:0007703HP:0000580Pigmentary retinopathy1MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 669
HP:0007703HP:0000580Pigmentary retinopathy1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent127
HP:0007703HP:0000580Pigmentary retinopathy1MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0007703HP:0000580Pigmentary retinopathy1MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0007703HP:0000580Pigmentary retinopathy1MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0007703HP:0000580Pigmentary retinopathy1MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0007703HP:0000580Pigmentary retinopathy1MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0007703HP:0000580Pigmentary retinopathy1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040284 - Very rare
HP:0007703HP:0000580Pigmentary retinopathy1MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0007703HP:0000580Pigmentary retinopathy1MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0007703HP:0000580Pigmentary retinopathy1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0007703HP:0000580Pigmentary retinopathy1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0007703HP:0000580Pigmentary retinopathy1NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0007703HP:0000580Pigmentary retinopathy1NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0007703HP:0000580Pigmentary retinopathy1NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0007703HP:0000580Pigmentary retinopathy1NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0007703HP:0000580Pigmentary retinopathy1NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0007703HP:0000580Pigmentary retinopathy1NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0007703HP:0000580Pigmentary retinopathy1NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0007703HP:0000580Pigmentary retinopathy1NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0007703HP:0000580Pigmentary retinopathy1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0007703HP:0000580Pigmentary retinopathy1NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0007703HP:0000580Pigmentary retinopathy1NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0007703HP:0000580Pigmentary retinopathy1NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0007703HP:0000580Pigmentary retinopathy1NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0007703HP:0000580Pigmentary retinopathy1NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0007703HP:0000580Pigmentary retinopathy1NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0007703HP:0000580Pigmentary retinopathy1NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0007703HP:0000580Pigmentary retinopathy1NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0007703HP:0000580Pigmentary retinopathy1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0007703HP:0007814Retinal pigment epithelial mottling1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0007703HP:0000580Pigmentary retinopathy1NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0007703HP:0000580Pigmentary retinopathy1NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0007703HP:0000580Pigmentary retinopathy1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent85
HP:0007703HP:0000580Pigmentary retinopathy1NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome.58
HP:0007703HP:0000580Pigmentary retinopathy1NR2E3 CL E G H100027974OMIM:611131Retinitis pigmentosa 37.58
HP:0007703HP:0000580Pigmentary retinopathy1PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0007703HP:0000580Pigmentary retinopathy1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0007703HP:0000580Pigmentary retinopathy1PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54
HP:0007703HP:0000580Pigmentary retinopathy1PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0007703HP:0000580Pigmentary retinopathy1PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0007703HP:0007814Retinal pigment epithelial mottling1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040283 - Occasional80
HP:0007703HP:0000580Pigmentary retinopathy1PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 5718
HP:0007703HP:0007814Retinal pigment epithelial mottling1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040283 - Occasional14
HP:0007703HP:0000580Pigmentary retinopathy1PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0007703HP:0000580Pigmentary retinopathy1PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0007703HP:0000580Pigmentary retinopathy1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0007703HP:0000580Pigmentary retinopathy1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0007703HP:0000580Pigmentary retinopathy1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0007703HP:0000580Pigmentary retinopathy1PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0007703HP:0007814Retinal pigment epithelial mottling1PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0007703HP:0007814Retinal pigment epithelial mottling1PITPNM3 CL E G H8339421043OMIM:600977Cone-Rod dystrophy 5135
HP:0007703HP:0000580Pigmentary retinopathy1PNPLA6 CL E G H1090816268OMIM:245800Laurence-Moon syndrome.103
HP:0007703HP:0000580Pigmentary retinopathy1PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0007703HP:0000580Pigmentary retinopathy1POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0007703HP:0007814Retinal pigment epithelial mottling1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0007703HP:0000580Pigmentary retinopathy1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0007703HP:0000580Pigmentary retinopathy1POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0007703HP:0000580Pigmentary retinopathy1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0007703HP:0000580Pigmentary retinopathy1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0007703HP:0000580Pigmentary retinopathy1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2HP:0040283 - Occasional221
HP:0007703HP:0000580Pigmentary retinopathy1PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0007703HP:0000580Pigmentary retinopathy1PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0007703HP:0007814Retinal pigment epithelial mottling1PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2110
HP:0007703HP:0000580Pigmentary retinopathy1PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0007703HP:0007814Retinal pigment epithelial mottling1PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040281 - Very frequent110
HP:0007703HP:0000580Pigmentary retinopathy1PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0007703HP:0000580Pigmentary retinopathy1PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0007703HP:0007814Retinal pigment epithelial mottling1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional159
HP:0007703HP:0000580Pigmentary retinopathy1PRPH2 CL E G H59619942OMIM:608133Retinitis pigmentosa 7159
HP:0007703HP:0007814Retinal pigment epithelial mottling1PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent159
HP:0007703HP:0000580Pigmentary retinopathy1PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare159
HP:0007703HP:0007814Retinal pigment epithelial mottling1PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040281 - Very frequent159
HP:0007703HP:0000580Pigmentary retinopathy1RAX2 CL E G H8483918286OMIM:62010252
HP:0007703HP:0000580Pigmentary retinopathy1RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0007703HP:0000580Pigmentary retinopathy1RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 1345
HP:0007703HP:0007814Retinal pigment epithelial mottling1RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent32
HP:0007703HP:0000580Pigmentary retinopathy1RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare32
HP:0007703HP:0000580Pigmentary retinopathy1RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1107
HP:0007703HP:0000580Pigmentary retinopathy1RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4.107
HP:0007703HP:0007814Retinal pigment epithelial mottling1RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent107
HP:0007703HP:0000580Pigmentary retinopathy1RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare107
HP:0007703HP:0000580Pigmentary retinopathy1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040282 - Frequent47
HP:0007703HP:0007814Retinal pigment epithelial mottling1RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040282 - Frequent47
HP:0007703HP:0000580Pigmentary retinopathy1RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040284 - Very rare47
HP:0007703HP:0007814Retinal pigment epithelial mottling1RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040282 - Frequent47
HP:0007703HP:0000580Pigmentary retinopathy1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0007703HP:0000580Pigmentary retinopathy1RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0007703HP:0000580Pigmentary retinopathy1ROM1 CL E G H609410254OMIM:608133Retinitis pigmentosa 738
HP:0007703HP:0000580Pigmentary retinopathy1RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1111
HP:0007703HP:0000580Pigmentary retinopathy1RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0007703HP:0000580Pigmentary retinopathy1RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked.45
HP:0007703HP:0000580Pigmentary retinopathy1RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 914
HP:0007703HP:0000580Pigmentary retinopathy1RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129
HP:0007703HP:0000580Pigmentary retinopathy1RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0007703HP:0000580Pigmentary retinopathy1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0007703HP:0007814Retinal pigment epithelial mottling1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0007703HP:0007814Retinal pigment epithelial mottling1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040283 - Occasional200
HP:0007703HP:0007814Retinal pigment epithelial mottling1RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0007703HP:0000580Pigmentary retinopathy1RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0007703HP:0000580Pigmentary retinopathy1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125
HP:0007703HP:0000580Pigmentary retinopathy1RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0007703HP:0000580Pigmentary retinopathy1SAG CL E G H629510521OMIM:613758RETINITIS PIGMENTOSA 47; RP4732
HP:0007703HP:0000580Pigmentary retinopathy1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent
HP:0007703HP:0000580Pigmentary retinopathy1SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0007703HP:0000580Pigmentary retinopathy1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent61
HP:0007703HP:0000580Pigmentary retinopathy1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare304
HP:0007703HP:0000580Pigmentary retinopathy1SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0007703HP:0000580Pigmentary retinopathy1SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0007703HP:0000580Pigmentary retinopathy1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare16
HP:0007703HP:0000580Pigmentary retinopathy1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare237
HP:0007703HP:0000580Pigmentary retinopathy1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040284 - Very rare129
HP:0007703HP:0007814Retinal pigment epithelial mottling1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0007703HP:0000580Pigmentary retinopathy1SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 1048
HP:0007703HP:0000580Pigmentary retinopathy1SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0007703HP:0007814Retinal pigment epithelial mottling1SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0007703HP:0000580Pigmentary retinopathy1SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0007703HP:0000580Pigmentary retinopathy1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0007703HP:0007814Retinal pigment epithelial mottling1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0007703HP:0000580Pigmentary retinopathy1SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0007703HP:0000580Pigmentary retinopathy1SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0007703HP:0000580Pigmentary retinopathy1TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0007703HP:0000580Pigmentary retinopathy1TIMP3 CL E G H707811822ORPHA:59181Sorsby pseudoinflammatory fundus dystrophyHP:0040283 - Occasional95
HP:0007703HP:0000580Pigmentary retinopathy1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent108
HP:0007703HP:0000580Pigmentary retinopathy1TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0007703HP:0000580Pigmentary retinopathy1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0007703HP:0000580Pigmentary retinopathy1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0007703HP:0000580Pigmentary retinopathy1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0007703HP:0000580Pigmentary retinopathy1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007703HP:0000580Pigmentary retinopathy1TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent41
HP:0007703HP:0000580Pigmentary retinopathy1TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 5141
HP:0007703HP:0007814Retinal pigment epithelial mottling1TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness
HP:0007703HP:0000580Pigmentary retinopathy1TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0007703HP:0000580Pigmentary retinopathy1TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0007703HP:0007814Retinal pigment epithelial mottling1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0007703HP:0000580Pigmentary retinopathy1USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39777
HP:0007703HP:0000580Pigmentary retinopathy1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0007703HP:0007814Retinal pigment epithelial mottling1VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0007703HP:0000580Pigmentary retinopathy1WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040281 - Very frequent60
HP:0007703HP:0000580Pigmentary retinopathy1WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0007703HP:0000580Pigmentary retinopathy1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0007703HP:0000580Pigmentary retinopathy1ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0007703HP:0000580Pigmentary retinopathy1ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 5827
HP:0007703HP:0007737Bone spicule pigmentation of the retina2ABCA4 CL E G H2434OMIM:601718Retinitis pigmentosa 19.826
HP:0007703HP:0007737Bone spicule pigmentation of the retina2AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 752
HP:0007703HP:0007737Bone spicule pigmentation of the retina2ARL3 CL E G H403694OMIM:618173RETINITIS PIGMENTOSA 83; RP831
HP:0007703HP:0007737Bone spicule pigmentation of the retina2ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0007703HP:0007737Bone spicule pigmentation of the retina2ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0007703HP:0007737Bone spicule pigmentation of the retina2BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0007703HP:0007737Bone spicule pigmentation of the retina2BBS9 CL E G H2724130000OMIM:615986BARDET-BIEDL SYNDROME 9; BBS9119
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0007703HP:0007793Granular macular appearance2CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0007703HP:0007793Granular macular appearance2CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007703HP:0030505Nummular pigmentation of the fundus2CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007703HP:0007793Granular macular appearance2CHM CL E G H11211940OMIM:303100CHOROIDEREMIA47
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CLRN1 CL E G H740112605OMIM:614180Retinitis pigmentosa 6160
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CNGA1 CL E G H12592148OMIM:613756RETINITIS PIGMENTOSA 49; RP4944
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CNGB1 CL E G H12582151OMIM:613767Retinitis pigmentosa 45.164
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0007703HP:0030505Nummular pigmentation of the fundus2CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy.156
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0007703HP:0007737Bone spicule pigmentation of the retina2CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0007703HP:0007793Granular macular appearance2EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0007703HP:0007737Bone spicule pigmentation of the retina2EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0007703HP:0007737Bone spicule pigmentation of the retina2FAM161A CL E G H8414025808OMIM:606068RETINITIS PIGMENTOSA 28; RP2856
HP:0007703HP:0007737Bone spicule pigmentation of the retina2FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0007703HP:0007737Bone spicule pigmentation of the retina2FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0007703HP:0007737Bone spicule pigmentation of the retina2FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0007703HP:0007737Bone spicule pigmentation of the retina2GUCY2D CL E G H30004689OMIM:601777Cone-Rod dystrophy 6124
HP:0007703HP:0007737Bone spicule pigmentation of the retina2HK1 CL E G H30984922OMIM:617460Retinitis pigmentosa 7911
HP:0007703HP:0007737Bone spicule pigmentation of the retina2IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0007703HP:0007737Bone spicule pigmentation of the retina2IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80148
HP:0007703HP:0007737Bone spicule pigmentation of the retina2IMPDH1 CL E G H36146052OMIM:180105Retinitis pigmentosa 10.52
HP:0007703HP:0007737Bone spicule pigmentation of the retina2IMPG2 CL E G H5093918362OMIM:613581RETINITIS PIGMENTOSA 56; RP56120
HP:0007703HP:0007737Bone spicule pigmentation of the retina2KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0007703HP:0030505Nummular pigmentation of the fundus2KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0007703HP:0007737Bone spicule pigmentation of the retina2LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0007703HP:0007793Granular macular appearance2LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0007703HP:0007737Bone spicule pigmentation of the retina2LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0007703HP:0007793Granular macular appearance2LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0007703HP:0007737Bone spicule pigmentation of the retina2LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0007703HP:0007737Bone spicule pigmentation of the retina2MAK CL E G H41176816OMIM:614181Retinitis pigmentosa 6253
HP:0007703HP:0007737Bone spicule pigmentation of the retina2MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0007703HP:0007737Bone spicule pigmentation of the retina2MKS1 CL E G H549037121OMIM:615990BARDET-BIEDL SYNDROME 13; BBS13127
HP:0007703HP:0007737Bone spicule pigmentation of the retina2NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PCARE CL E G H38893934383OMIM:613428Retinitis pigmentosa 54.
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PDE6A CL E G H51458785OMIM:613810RETINITIS PIGMENTOSA 43; RP43116
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PDE6B CL E G H51588786OMIM:613801Retinitis pigmentosa 40126
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PDE6G CL E G H51488789OMIM:613582Retinitis pigmentosa 5718
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PISD CL E G H237618999OMIM:618889LIBERFARB SYNDROME; LIBF1
HP:0007703HP:0007737Bone spicule pigmentation of the retina2POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0007703HP:0007737Bone spicule pigmentation of the retina2POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 3639
HP:0007703HP:0007793Granular macular appearance2PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0007703HP:0007737Bone spicule pigmentation of the retina2PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RAX2 CL E G H8483918286OMIM:62010252
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RBP3 CL E G H59499921OMIM:615233Retinitis pigmentosa 66108
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RDH12 CL E G H14522619977OMIM:612712Leber congenital amaurosis 1345
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RHO CL E G H601010012OMIM:610445Night blindness, congenital stationary, autosomal dominant 1.107
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RHO CL E G H601010012OMIM:613731Retinitis pigmentosa 4107
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1.111
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RP9 CL E G H610010288OMIM:180104Retinitis pigmentosa 9.14
HP:0007703HP:0030505Nummular pigmentation of the fundus2RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RPE65 CL E G H612110294OMIM:618697RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87129
HP:0007703HP:0007793Granular macular appearance2RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0007703HP:0007737Bone spicule pigmentation of the retina2RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0007703HP:0007737Bone spicule pigmentation of the retina2SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0007703HP:0007737Bone spicule pigmentation of the retina2SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 1048
HP:0007703HP:0007737Bone spicule pigmentation of the retina2SNRNP200 CL E G H2302030859OMIM:610359Retinitis pigmentosa 3383
HP:0007703HP:0007737Bone spicule pigmentation of the retina2SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0007703HP:0007793Granular macular appearance2SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0007703HP:0007737Bone spicule pigmentation of the retina2TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 51.41
HP:0007703HP:0007737Bone spicule pigmentation of the retina2TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0007703HP:0007737Bone spicule pigmentation of the retina2USH2A CL E G H739912601OMIM:613809Retinitis pigmentosa 39.777
HP:0007703HP:0007737Bone spicule pigmentation of the retina2VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0007703HP:0007737Bone spicule pigmentation of the retina2ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0007703HP:0007737Bone spicule pigmentation of the retina2ZNF513 CL E G H13055726498OMIM:613617Retinitis pigmentosa 58.27


Genes (358) :ABCA4 ACOX1 ADAM9 AGBL5 AHI1 AHR AIPL1 AIRE AKT1 ALDH1A3 ALDH3A2 ALMS1 AMACR APC ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARSG ATF6 ATP6 ATP8 ATXN7 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 CA4 CABP4 CACNA1F CACNA2D4 CAV1 CBS CCDC28B CDH3 CDHR1 CEP120 CEP164 CEP19 CEP290 CERKL CFAP410 CFAP418 CFH CFI CHM CLCC1 CLCN3 CLDN19 CLN3 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COA8 COX1 COX15 COX2 COX3 COX7B COX8A CP CRB1 CRX CTNNB1 CTNS CYP4V2 DHDDS DHX16 DHX38 DRAM2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 ECHS1 EDN3 EDNRB EFEMP1 ELMO2 ELOVL4 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EYS FAM161A FKRP FLCN FLNB FLVCR1 FOXRED1 FSCN2 GDF6 GMPPB GNAT1 GNAT2 GNB3 GPR179 GRK1 GRM6 GSS GUCA1A GUCA1B GUCY2D HADH HADHA HADHB HCCS HGSNAT HK1 HKDC1 IDH3A IDH3B IDS IFT140 IFT172 IFT27 IFT52 IFT74 IFT80 IFT88 IMPDH1 IMPG1 IMPG2 INVS IQCB1 ISCA1 JAG1 KCNJ13 KIAA1549 KIF11 KIZ KLHL7 LARGE1 LCA5 LIPT1 LMNA LRAT LRIT3 LYST LZTFL1 MAK MC1R MCOLN1 MECR MED12 MERTK MFRP MFSD8 MITF MKKS MKS1 MMACHC MORC2 MSTO1 MTFMT MTTP NCAPG2 ND1 ND2 ND3 ND4 ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NGLY1 NMNAT1 NOTCH2NLC NPHP1 NPHP3 NPHP4 NR2E3 NRL NYX OCA2 OFD1 OPN1LW OPN1MW OTX2 PANK2 PAX6 PCARE PCYT1A PDE6A PDE6B PDE6C PDE6G PDE6H PDHA1 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PIEZO2 PISD PITPNM3 PLK4 PNPLA6 POC1B POLG POLR3A POMGNT1 POMT1 POMT2 PRCD PRDX1 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS56 PTEN RAB18 RAB28 RAB3GAP1 RAB3GAP2 RAX RAX2 RBP3 RD3 RDH12 RDH5 REEP6 RGR RHO RIMS1 RLBP1 RMRP RNASEH1 RNF216 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPS6KA3 RRM2B SAG SCAPER SDCCAG8 SDHA SDHAF1 SDHB SDHD SELENOI SEMA4A SIX6 SLC12A6 SLC19A3 SLC24A1 SLC45A2 SLC6A6 SLC7A14 SNRNP200 SOX10 SOX2 SPATA7 SUMF1 SURF1 TACO1 TAF2 TBC1D20 TIMP3 TLCD3B TMEM98 TNFRSF11A TNFRSF11B TOPORS TRAF3IP1 TRIM32 TRIM37 TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNV TRNW TRPM1 TTC21B TTC8 TTLL5 TTPA TUB TUBB4B TUBGCP4 TUBGCP6 TULP1 TWNK TYR UNC119 USH2A USP45 VPS13B VPS33A VPS41 WDPCP WDR19 WFS1 WRN ZFYVE26 ZNF408 ZNF513

Diseases (226) :ORPHA:1872 OMIM:604116 ORPHA:791 OMIM:601718 ORPHA:827 OMIM:264470 OMIM:617023 OMIM:608629 ORPHA:65 OMIM:240300 ORPHA:744 ORPHA:35612 ORPHA:816 OMIM:203800 OMIM:614307 ORPHA:79095 ORPHA:873 OMIM:612291 OMIM:618173 ORPHA:110 OMIM:209900 OMIM:600151 OMIM:618144 ORPHA:49382 ORPHA:255210 ORPHA:644 OMIM:551500 ORPHA:480 OMIM:164500 OMIM:616562 OMIM:615986 OMIM:193220 ORPHA:215 OMIM:610478 OMIM:606721 ORPHA:394 ORPHA:1897 ORPHA:474 ORPHA:3156 OMIM:614500 ORPHA:75376 ORPHA:180 OMIM:303100 OMIM:609913 OMIM:619517 ORPHA:2196 ORPHA:228346 OMIM:614180 OMIM:613756 OMIM:613767 ORPHA:1871 OMIM:217080 ORPHA:1873 ORPHA:436271 ORPHA:550 ORPHA:255241 ORPHA:2556 OMIM:309801 OMIM:619059 ORPHA:48818 OMIM:613835 OMIM:172870 OMIM:600105 OMIM:120970 OMIM:219900 OMIM:219800 ORPHA:411629 ORPHA:41751 OMIM:618733 ORPHA:897 ORPHA:3019 ORPHA:1493 ORPHA:1466 OMIM:610651 ORPHA:90321 OMIM:133540 OMIM:216400 OMIM:602772 OMIM:606068 ORPHA:370968 ORPHA:122 OMIM:272460 OMIM:609033 ORPHA:88628 OMIM:607921 OMIM:266130 ORPHA:75377 OMIM:215500 OMIM:601777 OMIM:204000 ORPHA:71212 ORPHA:5 OMIM:609016 OMIM:609015 ORPHA:746 OMIM:617460 OMIM:619614 OMIM:619007 OMIM:612572 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:617781 OMIM:617102 OMIM:180105 OMIM:613581 OMIM:617613 OMIM:118450 OMIM:618613 ORPHA:2526 OMIM:615780 ORPHA:364055 ORPHA:79474 ORPHA:167 OMIM:615994 OMIM:614181 ORPHA:79432 ORPHA:578 OMIM:617282 OMIM:301068 OMIM:611040 OMIM:610951 OMIM:605231 OMIM:615990 OMIM:617121 ORPHA:79282 OMIM:277400 ORPHA:466768 OMIM:619090 ORPHA:502423 OMIM:617675 ORPHA:14 OMIM:618460 ORPHA:404454 OMIM:608553 OMIM:619473 OMIM:268100 OMIM:611131 ORPHA:16 ORPHA:216866 OMIM:234200 ORPHA:35737 OMIM:613428 ORPHA:85167 OMIM:613810 OMIM:613801 OMIM:613582 ORPHA:742 ORPHA:44 OMIM:214100 OMIM:614866 OMIM:214110 ORPHA:773 OMIM:108145 OMIM:618889 OMIM:600977 ORPHA:2518 ORPHA:1173 OMIM:245800 OMIM:275400 OMIM:615973 OMIM:607459 ORPHA:3455 OMIM:617123 OMIM:613156 OMIM:610599 OMIM:608051 OMIM:612095 OMIM:600138 OMIM:600059 OMIM:608133 ORPHA:52427 ORPHA:2510 OMIM:620102 OMIM:615233 OMIM:612712 OMIM:610445 OMIM:613731 ORPHA:85128 ORPHA:175 ORPHA:329336 OMIM:226960 ORPHA:1824 OMIM:180100 OMIM:618826 OMIM:312600 OMIM:180104 OMIM:204100 OMIM:618697 OMIM:304020 OMIM:300029 ORPHA:192 OMIM:268315 OMIM:613758 OMIM:618195 ORPHA:3208 OMIM:252011 ORPHA:506353 OMIM:610283 ORPHA:1496 ORPHA:79435 OMIM:145350 OMIM:610359 ORPHA:585 OMIM:220110 ORPHA:397951 ORPHA:59181 ORPHA:2801 OMIM:253250 OMIM:613464 ORPHA:96 OMIM:617879 OMIM:251270 OMIM:613843 OMIM:600132 ORPHA:79434 OMIM:613809 ORPHA:193 OMIM:216550 ORPHA:505248 OMIM:619389 OMIM:222300 ORPHA:902 ORPHA:100996 OMIM:616469 OMIM:613617
 

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