Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000575 | HP:0000575 | Scotoma | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | | | | 826 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ACO2 CL E G H | 50 | 118 | OMIM:616289 | Optic atrophy 9 | | | | 60 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 530 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | | | | 10 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ATF6 CL E G H | 22926 | 791 | OMIM:616517 | ACHROMATOPSIA 7; ACHM7 | | | | 10 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | . | | | 20 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | | | | 58 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 9 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:617547 | Retinal dystrophy with or without macular staphyloma | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 60 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | | | | 82 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | | | | 194 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | | | | 194 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | | | | 101 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | | | | 126 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | | | | 126 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | | | | 94 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | | | | 54 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | | | | 62 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | | | | 19 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | | | | 4 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:616152 | Macular dystrophy, vitelliform, 5 | | | | 120 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:616079 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | | | | 3 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | LOC111365204 CL E G H | 111365204 | | OMIM:136550 | Macular dystrophy, retinal, 1, north Carolina type | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:616170 | Macular dystrophy with central cone involvement | | | | 120 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 516 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | | | | 47 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | | | | 65 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 214 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | | | | 214 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | | | | 214 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | | | | 163 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | OPA3 CL E G H | 80207 | 8142 | OMIM:165300 | OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 | | | | 163 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | | | | 80 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | | | | 14 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 40 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | | | | 135 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | | | | 110 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | | | | 110 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PRPF3 CL E G H | 9129 | 17348 | OMIM:601414 | Retinitis pigmentosa 18 | . | | | 28 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | | | | 159 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | | | | 159 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | | | | 6 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | | | | 108 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | | | | 32 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | | | | 107 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | | | | 47 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:607476 | NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD | | | | 47 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | | | | 47 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | | | | 111 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | | | | 200 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | | | | 23 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 777 | | |
HP:0000575 | HP:0000575 | Scotoma | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 155 | | |
HP:0000575 | HP:0010822 | Scintillating scotoma | 1 | CL E G H | | | | | | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 826 | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | ACO2 CL E G H | 50 | 118 | OMIM:616289 | Optic atrophy 9 | . | | | 60 | | |
HP:0000575 | HP:0030529 | Ring scotoma | 1 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 10 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ATF6 CL E G H | 22926 | 791 | OMIM:616517 | ACHROMATOPSIA 7; ACHM7 | | | | 10 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | | | | 58 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CFAP410 CL E G H | 755 | 1260 | OMIM:617547 | Retinal dystrophy with or without macular staphyloma | . | | | | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 82 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 194 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 194 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98977 | Juvenile glaucoma | HP:0040284 - Very rare | | | 101 | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | . | | | 126 | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040283 - Occasional | | | 94 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:610708 | Optic atrophy 5 | . | | | 94 | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:98977 | Juvenile glaucoma | HP:0040284 - Very rare | | | 54 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0000575 | HP:0030529 | Ring scotoma | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 19 | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0000575 | HP:0030530 | Arcuate scotoma | 1 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | IMPG2 CL E G H | 50939 | 18362 | OMIM:616152 | Macular dystrophy, vitelliform, 5 | . | | | 120 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ITM2B CL E G H | 9445 | 6174 | OMIM:616079 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | . | | | 3 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | LOC111365204 CL E G H | 111365204 | | OMIM:136550 | Macular dystrophy, retinal, 1, north Carolina type | . | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | MFSD8 CL E G H | 256471 | 28486 | OMIM:616170 | Macular dystrophy with central cone involvement | . | | | 120 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | MYOC CL E G H | 4653 | 7610 | ORPHA:98977 | Juvenile glaucoma | HP:0040284 - Very rare | | | 47 | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | 65 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | 65 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040283 - Occasional | | | 214 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | . | | | 214 | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | . | | | 214 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0000575 | HP:0000576 | Centrocecal scotoma | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040282 - Frequent | | | 163 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 80 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 14 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | | | | 135 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | . | | | 3 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | . | | | 110 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 110 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 159 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | . | | | 6 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | . | | | 108 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000575 | HP:0030529 | Ring scotoma | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000575 | HP:0030528 | Paracentral scotoma | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |
HP:0000575 | HP:0007761 | Pericentral scotoma | 1 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0000575 | HP:0030529 | Ring scotoma | 1 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040282 - Frequent | | | 200 | | |
HP:0000575 | HP:0030529 | Ring scotoma | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000575 | HP:0000603 | Central scotoma | 1 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | | | | 23 | | |
HP:0000575 | HP:0030529 | Ring scotoma | 1 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |