Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 162 | 13666 | 605378 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 174 | 13666 | 605378 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 576 | 29 | 600046 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 664 | 29 | 600046 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 914 | 57 | 603234 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1137 | 57 | 603234 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 257 | 216 | 602713 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 315 | 216 | 602713 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 52 | 10648 | 603605 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 66 | 10648 | 603605 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 641 | 360 | 607358 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 718 | 360 | 607358 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 193 | 23159 | 607905 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 241 | 23159 | 607905 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 83 | 21014 | 606410 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 84 | 21014 | 606410 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 356 | 566 | 603401 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 467 | 566 | 603401 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 226 | 568 | 607246 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 394 | 568 | 607246 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 62 | 16876 | 606036 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 84 | 16876 | 606036 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 499 | 12703 | 607854 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 595 | 12703 | 607854 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 35 | 20914 | 609762 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 68 | 20914 | 609762 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 252 | 1386 | 608965 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 312 | 1386 | 608965 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 658 | 1393 | 300110 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 818 | 1393 | 300110 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 593 | 20202 | 608171 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 757 | 20202 | 608171 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 531 | 25695 | 612800 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 625 | 25695 | 612800 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 583 | 1497 | 300172 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 633 | 1497 | 300172 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CEP290 CL E G H | 80184 | 611755 | Leber congenital amaurosis 10 | 611755 | C1857821 | OMIM | 1 | | 1535 | 29021 | 610142 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CEP290 CL E G H | 80184 | 611755 | Leber congenital amaurosis 10 | 611755 | C1857821 | OMIM | 1 | | 1902 | 29021 | 610142 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CEP290 CL E G H | 80184 | 610189 | Senior-Loken syndrome 6 | 610189 | C1857779 | OMIM | 1 | | 1535 | 29021 | 610142 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CEP290 CL E G H | 80184 | 610189 | Senior-Loken syndrome 6 | 610189 | C1857779 | OMIM | 1 | | 1902 | 29021 | 610142 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 78 | 26877 | 616174 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 94 | 26877 | 616174 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 388 | 2025 | 602727 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 549 | 2025 | 602727 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 176 | 2586 | 603432 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 177 | 2586 | 603432 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLRN1 CL E G H | 7401 | 614180 | Retinitis pigmentosa 61 | 614180 | C3280041 | OMIM | 1 | | 242 | 12605 | 606397 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CLRN1 CL E G H | 7401 | 614180 | Retinitis pigmentosa 61 | 614180 | C3280041 | OMIM | 1 | | 272 | 12605 | 606397 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CNGB3 CL E G H | 54714 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 590 | 2153 | 605080 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CNGB3 CL E G H | 54714 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 700 | 2153 | 605080 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CNNM4 CL E G H | 26504 | 1873 | Diphallus rachischisis imperforate anus | | | ORPHA | 1 | | 309 | 105 | 607805 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CNNM4 CL E G H | 26504 | 1873 | Diphallus rachischisis imperforate anus | | | ORPHA | 1 | | 387 | 105 | 607805 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 158 | 8011 | 602346 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 216 | 8011 | 602346 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 392 | 2194 | 113811 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | COL17A1 CL E G H | 1308 | 122400 | Epithelial recurrent erosion dystrophy | 122400 | C1852551 | OMIM | 1 | | 406 | 2194 | 113811 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 67 | 2244 | 601683 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 107 | 2244 | 601683 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CRB1 CL E G H | 23418 | 613835 | Leber congenital amaurosis 8 | 613835 | C3151202 | OMIM | 1 | | 894 | 2343 | 604210 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CRB1 CL E G H | 23418 | 613835 | Leber congenital amaurosis 8 | 613835 | C3151202 | OMIM | 1 | | 1085 | 2343 | 604210 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CRX CL E G H | 1406 | 613829 | Leber congenital amaurosis 7 | 613829 | C3151192 | OMIM | 1 | | 361 | 2383 | 602225 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | CRX CL E G H | 1406 | 613829 | Leber congenital amaurosis 7 | 613829 | C3151192 | OMIM | 1 | | 419 | 2383 | 602225 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 207 | 29419 | 612799 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 235 | 29419 | 612799 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | EFEMP1 CL E G H | 2202 | 126600 | Doyne honeycomb retinal dystrophy | 126600 | C1832174 | OMIM | 1 | | 177 | 3218 | 601548 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | EFEMP1 CL E G H | 2202 | 126600 | Doyne honeycomb retinal dystrophy | 126600 | C1832174 | OMIM | 1 | | 216 | 3218 | 601548 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 657 | 3327 | 130160 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 704 | 3327 | 130160 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 106 | 3433 | 126380 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 110 | 3433 | 126380 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC4 CL E G H | 2072 | 610965 | XFE progeroid syndrome | 610965 | C1970416 | OMIM | 1 | | 469 | 3436 | 133520 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC4 CL E G H | 2072 | 610965 | XFE progeroid syndrome | 610965 | C1970416 | OMIM | 1 | | 538 | 3436 | 133520 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 825 | 3438 | 609413 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 946 | 3438 | 609413 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 77 | 17035 | 606019 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | EXOSC8 CL E G H | 11340 | 616081 | Pontocerebellar hypoplasia, type 1c | 616081 | C4015160 | OMIM | 1 | | 79 | 17035 | 606019 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 227 | 11920 | 134637 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 275 | 11920 | 134637 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FDXR CL E G H | 2232 | 617717 | AUDITORY NEUROPATHY AND OPTIC ATROPHY | 617717 | C4521678 | OMIM | 1 | | 73 | 3642 | 103270 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FDXR CL E G H | 2232 | 617717 | AUDITORY NEUROPATHY AND OPTIC ATROPHY | 617717 | C4521678 | OMIM | 1 | | 79 | 3642 | 103270 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FGFR1 CL E G H | 2260 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 530 | 3688 | 136350 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FGFR1 CL E G H | 2260 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 597 | 3688 | 136350 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FGFR2 CL E G H | 2263 | 123500 | Crouzon syndrome | 123500 | C0010273 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FGFR2 CL E G H | 2263 | 123500 | Crouzon syndrome | 123500 | C0010273 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1136 | 3700 | 136850 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1292 | 3700 | 136850 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 572 | 17997 | 606596 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 671 | 17997 | 606596 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 599 | 3622 | 607440 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 679 | 3622 | 607440 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FOXE3 CL E G H | 2301 | 88632 | | | | ORPHA | 1 | | 152 | 3808 | 601094 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FOXE3 CL E G H | 2301 | 88632 | | | | ORPHA | 1 | | 176 | 3808 | 601094 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FSCN2 CL E G H | 25794 | 607921 | Retinitis pigmentosa 30 | 607921 | C1842816 | OMIM | 1 | | 277 | 3960 | 607643 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | FSCN2 CL E G H | 25794 | 607921 | Retinitis pigmentosa 30 | 607921 | C1842816 | OMIM | 1 | | 386 | 3960 | 607643 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GDF3 CL E G H | 9573 | 613703 | Microphthalmia, isolated, with coloboma 6 | 613703 | C3150968 | OMIM | 1 | | 77 | 4218 | 606522 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GDF3 CL E G H | 9573 | 613703 | Microphthalmia, isolated, with coloboma 6 | 613703 | C3150968 | OMIM | 1 | | 82 | 4218 | 606522 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GDF6 CL E G H | 392255 | 613703 | Microphthalmia, isolated, with coloboma 6 | 613703 | C3150968 | OMIM | 1 | | 212 | 4221 | 601147 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GDF6 CL E G H | 392255 | 613703 | Microphthalmia, isolated, with coloboma 6 | 613703 | C3150968 | OMIM | 1 | | 270 | 4221 | 601147 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 169 | 4274 | 121014 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 191 | 4274 | 121014 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 1 | | 60 | 20134 | 609588 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GLRX5 CL E G H | 51218 | 401866 | | | | ORPHA | 1 | | 68 | 20134 | 609588 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 60 | 20134 | 609588 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GLRX5 CL E G H | 51218 | 616859 | Spasticity, childhood-onset, with hyperglycinemia | 616859 | C4225178 | OMIM | 1 | | 68 | 20134 | 609588 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GMPPA CL E G H | 29926 | 869 | | | | ORPHA | 1 | | 98 | 22923 | 615495 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GMPPA CL E G H | 29926 | 869 | | | | ORPHA | 1 | | 107 | 22923 | 615495 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 203 | 22932 | 615320 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 234 | 22932 | 615320 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GNAT2 CL E G H | 2780 | 613856 | Achromatopsia 4 | 613856 | C1841721 | OMIM | 1 | | 131 | 4394 | 139340 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GNAT2 CL E G H | 2780 | 613856 | Achromatopsia 4 | 613856 | C1841721 | OMIM | 1 | | 158 | 4394 | 139340 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GNAT2 CL E G H | 2780 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 131 | 4394 | 139340 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GNAT2 CL E G H | 2780 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 158 | 4394 | 139340 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GPR143 CL E G H | 4935 | 300500 | Ocular albinism, type I | 300500 | C0342684 | OMIM | 1 | | 297 | 20145 | 300808 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GPR143 CL E G H | 4935 | 300500 | Ocular albinism, type I | 300500 | C0342684 | OMIM | 1 | | 374 | 20145 | 300808 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 302 | 4601 | 138945 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 358 | 4601 | 138945 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 159 | 4659 | 601679 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 160 | 4659 | 601679 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 211 | 4661 | 604318 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 213 | 4661 | 604318 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GUCA1A CL E G H | 2978 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 158 | 4678 | 600364 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GUCA1A CL E G H | 2978 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 190 | 4678 | 600364 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GUCA1B CL E G H | 2979 | 613827 | Retinitis pigmentosa 48 | 613827 | C3151190 | OMIM | 1 | | 134 | 4679 | 602275 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | GUCA1B CL E G H | 2979 | 613827 | Retinitis pigmentosa 48 | 613827 | C3151190 | OMIM | 1 | | 165 | 4679 | 602275 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HARS CL E G H | 3035 | 614504 | Usher syndrome, type 3B | 614504 | C3281066 | OMIM | 1 | | | 4816 | 142810 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HESX1 CL E G H | 8820 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 63 | 4877 | 601802 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HESX1 CL E G H | 8820 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 74 | 4877 | 601802 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HPS3 CL E G H | 84343 | 614072 | Hermansky-Pudlak syndrome 3 | 614072 | C3888001 | OMIM | 1 | | 433 | 15597 | 606118 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HPS3 CL E G H | 84343 | 614072 | Hermansky-Pudlak syndrome 3 | 614072 | C3888001 | OMIM | 1 | | 534 | 15597 | 606118 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1327 | 5273 | 142461 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1600 | 5273 | 142461 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 140 | 27302 | 615316 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 161 | 27302 | 615316 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IGBP1 CL E G H | 3476 | 300472 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia | 300472 | C1845446 | OMIM | 1 | | 153 | 5461 | 300139 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IGBP1 CL E G H | 3476 | 300472 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia | 300472 | C1845446 | OMIM | 1 | | 156 | 5461 | 300139 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 1 | | 326 | 5961 | 300248 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IKBKG CL E G H | 8517 | 464 | Achromatopsia incomplete X-linked | | CN036572 | ORPHA | 1 | | 337 | 5961 | 300248 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IMPDH1 CL E G H | 3614 | 613837 | Leber congenital amaurosis 11 | 613837 | C1840284 | OMIM | 1 | | 283 | 6052 | 146690 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | IMPDH1 CL E G H | 3614 | 613837 | Leber congenital amaurosis 11 | 613837 | C1840284 | OMIM | 1 | | 345 | 6052 | 146690 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ISCA2 CL E G H | 122961 | 616370 | Multiple mitochondrial dysfunctions syndrome 4 | 616370 | C4225348 | OMIM | 1 | | 37 | 19857 | 615317 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ISCA2 CL E G H | 122961 | 616370 | Multiple mitochondrial dysfunctions syndrome 4 | 616370 | C4225348 | OMIM | 1 | | 45 | 19857 | 615317 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ITPR1 CL E G H | 3708 | 206700 | Gillespie syndrome | 206700 | C0431401 | OMIM | 1 | | 895 | 6180 | 147265 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ITPR1 CL E G H | 3708 | 206700 | Gillespie syndrome | 206700 | C0431401 | OMIM | 1 | | 969 | 6180 | 147265 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 672 | 6501 | 309060 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LAMP2 CL E G H | 3920 | 300257 | Danon disease | 300257 | C0878677 | OMIM | 1 | | 726 | 6501 | 309060 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 516 | 6511 | 603590 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 597 | 6511 | 603590 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LCA5 CL E G H | 167691 | 604537 | Leber congenital amaurosis 5 | 604537 | C1858301 | OMIM | 1 | | 374 | 31923 | 611408 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LCA5 CL E G H | 167691 | 604537 | Leber congenital amaurosis 5 | 604537 | C1858301 | OMIM | 1 | | 458 | 31923 | 611408 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 6613 | 601329 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 197 | 6613 | 601329 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LRPAP1 CL E G H | 4043 | 615431 | Myopia 23, autosomal recessive | 615431 | C3809482 | OMIM | 1 | | 122 | 6701 | 104225 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LRPAP1 CL E G H | 4043 | 615431 | Myopia 23, autosomal recessive | 615431 | C3809482 | OMIM | 1 | | 123 | 6701 | 104225 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LYST CL E G H | 1130 | 214500 | Chédiak-Higashi syndrome | 214500 | C0007965 | OMIM | 1 | | 1176 | 1968 | 606897 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | LYST CL E G H | 1130 | 214500 | Chédiak-Higashi syndrome | 214500 | C0007965 | OMIM | 1 | | 1518 | 1968 | 606897 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 878 | 20444 | 611472 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 993 | 20444 | 611472 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 1 | | 376 | 6929 | 155555 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MC1R CL E G H | 4157 | 79432 | | | | ORPHA | 1 | | 428 | 6929 | 155555 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MCOLN1 CL E G H | 57192 | 252650 | Mucolipidosis type IV | 252650 | C0238286 | OMIM | 1 | | 418 | 13356 | 605248 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MCOLN1 CL E G H | 57192 | 252650 | Mucolipidosis type IV | 252650 | C0238286 | OMIM | 1 | | 448 | 13356 | 605248 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 60 | 19691 | 608205 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 73 | 19691 | 608205 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 102 | 24858 | 614785 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 113 | 24858 | 614785 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 19 | 33702 | 616658 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 20 | 33702 | 616658 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MITF CL E G H | 4286 | 103470 | Albinism, ocular, with sensorineural deafness | 103470 | C1863198 | OMIM | 1 | | 341 | 7105 | 156845 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MITF CL E G H | 4286 | 103470 | Albinism, ocular, with sensorineural deafness | 103470 | C1863198 | OMIM | 1 | | 349 | 7105 | 156845 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 348 | 24525 | 609831 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 385 | 24525 | 609831 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 860 | 7883 | 600276 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NOTCH3 CL E G H | 4854 | 136 | | | | ORPHA | 1 | | 946 | 7883 | 600276 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NRL CL E G H | 4901 | 613750 | Retinitis pigmentosa 27 | 613750 | C1834329 | OMIM | 1 | | 164 | 8002 | 162080 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NRL CL E G H | 4901 | 613750 | Retinitis pigmentosa 27 | 613750 | C1834329 | OMIM | 1 | | 217 | 8002 | 162080 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 116 | 8032 | 600456 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 202 | 8032 | 600456 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NUS1 CL E G H | 116150 | 617082 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa | 617082 | C4310727 | OMIM | 1 | | 86 | 21042 | 610463 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | NUS1 CL E G H | 116150 | 617082 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa | 617082 | C4310727 | OMIM | 1 | | 143 | 21042 | 610463 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 1 | | 662 | 8101 | 611409 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OCA2 CL E G H | 4948 | 79432 | | | | ORPHA | 1 | | 851 | 8101 | 611409 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 425 | 8108 | 300535 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 475 | 8108 | 300535 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPA1 CL E G H | 4976 | 1215 | Cerebro reno digital syndrome | | | ORPHA | 1 | | 598 | 8140 | 605290 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPA1 CL E G H | 4976 | 1215 | Cerebro reno digital syndrome | | | ORPHA | 1 | | 739 | 8140 | 605290 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 372 | 8142 | 606580 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 401 | 8142 | 606580 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 372 | 8142 | 606580 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 401 | 8142 | 606580 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPN1LW CL E G H | 5956 | 303700 | Cone monochromatism | 303700 | C0339537 | OMIM | 1 | | 264 | 9936 | 300822 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPN1LW CL E G H | 5956 | 303700 | Cone monochromatism | 303700 | C0339537 | OMIM | 1 | | 271 | 9936 | 300822 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPN1MW CL E G H | 2652 | 303700 | Cone monochromatism | 303700 | C0339537 | OMIM | 1 | | 255 | 4206 | 300821 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OPN1MW CL E G H | 2652 | 303700 | Cone monochromatism | 303700 | C0339537 | OMIM | 1 | | 260 | 4206 | 300821 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OSGEP CL E G H | 55644 | 617729 | GALLOWAY-MOWAT SYNDROME 3 | 617729 | C4540266 | OMIM | 1 | | 78 | 18028 | 610107 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OSGEP CL E G H | 55644 | 617729 | GALLOWAY-MOWAT SYNDROME 3 | 617729 | C4540266 | OMIM | 1 | | 95 | 18028 | 610107 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 146 | 21652 | 607649 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OSTM1 CL E G H | 28962 | 259720 | Osteopetrosis, autosomal recessive 5 | 259720 | C1968603 | OMIM | 1 | | 191 | 21652 | 607649 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OTX2 CL E G H | 5015 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 138 | 8522 | 600037 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | OTX2 CL E G H | 5015 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 162 | 8522 | 600037 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX2 CL E G H | 5076 | 1475 | Congenital bronchobiliary fistula | | | ORPHA | 1 | | 194 | 8616 | 167409 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX2 CL E G H | 5076 | 1475 | Congenital bronchobiliary fistula | | | ORPHA | 1 | | 250 | 8616 | 167409 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX6 CL E G H | 5080 | 893 | | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX6 CL E G H | 5080 | 893 | | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX6 CL E G H | 5080 | 136520 | Foveal hypoplasia and presenile cataract syndrome | 136520 | C3805604 | OMIM | 1 | | 577 | 8620 | 607108 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX6 CL E G H | 5080 | 136520 | Foveal hypoplasia and presenile cataract syndrome | 136520 | C3805604 | OMIM | 1 | | 632 | 8620 | 607108 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX6 CL E G H | 5080 | 165550 | Optic nerve hypoplasia, bilateral | 165550 | C1833797 | OMIM | 1 | | 577 | 8620 | 607108 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PAX6 CL E G H | 5080 | 165550 | Optic nerve hypoplasia, bilateral | 165550 | C1833797 | OMIM | 1 | | 632 | 8620 | 607108 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PCARE CL E G H | 388939 | 613428 | Retinitis pigmentosa 54 | 613428 | C3150691 | OMIM | 1 | | 603 | 34383 | 613425 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PCARE CL E G H | 388939 | 613428 | Retinitis pigmentosa 54 | 613428 | C3150691 | OMIM | 1 | | 775 | 34383 | 613425 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PDE6C CL E G H | 5146 | 613093 | Cone dystrophy 4 | 613093 | C2751308 | OMIM | 1 | | 329 | 8787 | 600827 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PDE6C CL E G H | 5146 | 613093 | Cone dystrophy 4 | 613093 | C2751308 | OMIM | 1 | | 410 | 8787 | 600827 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PDE6C CL E G H | 5146 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 329 | 8787 | 600827 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PDE6C CL E G H | 5146 | 1871 | Dionisi Vici Sabetta Gambarara syndrome | | | ORPHA | 1 | | 410 | 8787 | 600827 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEPD CL E G H | 5184 | 742 | Aortic dissection lentiginosis | | | ORPHA | 1 | | 188 | 8840 | 613230 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEPD CL E G H | 5184 | 742 | Aortic dissection lentiginosis | | | ORPHA | 1 | | 291 | 8840 | 613230 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX1 CL E G H | 5189 | 912 | | | | ORPHA | 1 | | 793 | 8850 | 602136 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX1 CL E G H | 5189 | 912 | | | | ORPHA | 1 | | 951 | 8850 | 602136 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 793 | 8850 | 602136 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 951 | 8850 | 602136 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX10 CL E G H | 5192 | 912 | | | | ORPHA | 1 | | 480 | 8851 | 602859 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX10 CL E G H | 5192 | 912 | | | | ORPHA | 1 | | 578 | 8851 | 602859 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 480 | 8851 | 602859 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 578 | 8851 | 602859 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 480 | 8851 | 602859 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 578 | 8851 | 602859 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX11B CL E G H | 8799 | 912 | | | | ORPHA | 1 | | 284 | 8853 | 603867 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX11B CL E G H | 8799 | 912 | | | | ORPHA | 1 | | 332 | 8853 | 603867 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 284 | 8853 | 603867 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 332 | 8853 | 603867 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX12 CL E G H | 5193 | 912 | | | | ORPHA | 1 | | 245 | 8854 | 601758 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX12 CL E G H | 5193 | 912 | | | | ORPHA | 1 | | 320 | 8854 | 601758 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 245 | 8854 | 601758 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 320 | 8854 | 601758 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX13 CL E G H | 5194 | 912 | | | | ORPHA | 1 | | 234 | 8855 | 601789 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX13 CL E G H | 5194 | 912 | | | | ORPHA | 1 | | 342 | 8855 | 601789 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 234 | 8855 | 601789 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 342 | 8855 | 601789 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX14 CL E G H | 5195 | 912 | | | | ORPHA | 1 | | 234 | 8856 | 601791 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX14 CL E G H | 5195 | 912 | | | | ORPHA | 1 | | 311 | 8856 | 601791 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 234 | 8856 | 601791 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 311 | 8856 | 601791 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX16 CL E G H | 9409 | 912 | | | | ORPHA | 1 | | 203 | 8857 | 603360 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX16 CL E G H | 9409 | 912 | | | | ORPHA | 1 | | 282 | 8857 | 603360 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 203 | 8857 | 603360 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 282 | 8857 | 603360 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 203 | 8857 | 603360 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX16 CL E G H | 9409 | 614877 | Peroxisome biogenesis disorder 8B | 614877 | C3553960 | OMIM | 1 | | 282 | 8857 | 603360 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX19 CL E G H | 5824 | 912 | | | | ORPHA | 1 | | 181 | 9713 | 600279 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX19 CL E G H | 5824 | 912 | | | | ORPHA | 1 | | 249 | 9713 | 600279 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 181 | 9713 | 600279 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 249 | 9713 | 600279 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX2 CL E G H | 5828 | 912 | | | | ORPHA | 1 | | 254 | 9717 | 170993 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX2 CL E G H | 5828 | 912 | | | | ORPHA | 1 | | 319 | 9717 | 170993 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 254 | 9717 | 170993 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 319 | 9717 | 170993 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 254 | 9717 | 170993 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX2 CL E G H | 5828 | 614867 | Peroxisome biogenesis disorder 5B | 614867 | C3542026 | OMIM | 1 | | 319 | 9717 | 170993 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX26 CL E G H | 55670 | 912 | | | | ORPHA | 1 | | 315 | 22965 | 608666 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX26 CL E G H | 55670 | 912 | | | | ORPHA | 1 | | 392 | 22965 | 608666 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 315 | 22965 | 608666 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 392 | 22965 | 608666 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 315 | 22965 | 608666 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX26 CL E G H | 55670 | 614873 | Peroxisome biogenesis disorder 7B | 614873 | C3553951 | OMIM | 1 | | 392 | 22965 | 608666 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX3 CL E G H | 8504 | 912 | | | | ORPHA | 1 | | 158 | 8858 | 603164 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX3 CL E G H | 8504 | 912 | | | | ORPHA | 1 | | 219 | 8858 | 603164 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 158 | 8858 | 603164 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 219 | 8858 | 603164 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX5 CL E G H | 5830 | 912 | | | | ORPHA | 1 | | 406 | 9719 | 600414 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX5 CL E G H | 5830 | 912 | | | | ORPHA | 1 | | 563 | 9719 | 600414 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 406 | 9719 | 600414 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 563 | 9719 | 600414 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX6 CL E G H | 5190 | 912 | | | | ORPHA | 1 | | 645 | 8859 | 601498 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX6 CL E G H | 5190 | 912 | | | | ORPHA | 1 | | 855 | 8859 | 601498 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 645 | 8859 | 601498 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 855 | 8859 | 601498 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 645 | 8859 | 601498 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 855 | 8859 | 601498 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 269 | 18145 | 300414 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 274 | 18145 | 300414 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PHOX2A CL E G H | 401 | 602078 | Fibrosis of extraocular muscles, congenital, 2 | 602078 | C1865915 | OMIM | 1 | | 19 | 691 | 602753 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PIEZO2 CL E G H | 63895 | 1154 | Cataract mental retardation hypogonadism | | | ORPHA | 1 | | 672 | 26270 | 613629 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PIEZO2 CL E G H | 63895 | 1154 | Cataract mental retardation hypogonadism | | | ORPHA | 1 | | 709 | 26270 | 613629 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 118 | 14938 | 610272 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 142 | 14938 | 610272 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PITX3 CL E G H | 5309 | 88632 | | | | ORPHA | 1 | | 39 | 9006 | 602669 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PITX3 CL E G H | 5309 | 88632 | | | | ORPHA | 1 | | 41 | 9006 | 602669 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLA2G6 CL E G H | 8398 | 35069 | | | | ORPHA | 1 | | 431 | 9039 | 603604 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLA2G6 CL E G H | 8398 | 35069 | | | | ORPHA | 1 | | 513 | 9039 | 603604 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 219 | 11397 | 605031 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLK4 CL E G H | 10733 | 2518 | | | | ORPHA | 1 | | 339 | 11397 | 605031 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLK4 CL E G H | 10733 | 616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | 616171 | C4015388 | OMIM | 1 | | 219 | 11397 | 605031 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLK4 CL E G H | 10733 | 616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | 616171 | C4015388 | OMIM | 1 | | 339 | 11397 | 605031 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 585 | 9081 | 153454 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 661 | 9081 | 153454 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 216 | 9173 | 312040 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 321 | 9173 | 312040 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 1 | | 1019 | 20194 | 610060 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POLR1C CL E G H | 9533 | 861 | | | | ORPHA | 1 | | 1131 | 20194 | 610060 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 1 | | 79 | 20422 | 613715 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POLR1D CL E G H | 51082 | 861 | | | | ORPHA | 1 | | 82 | 20422 | 613715 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 662 | 19139 | 606822 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 797 | 19139 | 606822 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 609 | 9202 | 607423 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 686 | 9202 | 607423 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 604 | 19743 | 607439 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 691 | 19743 | 607439 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 31 | 9352 | 176763 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 35 | 9352 | 176763 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PROKR2 CL E G H | 128674 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 120 | 15836 | 607123 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PROKR2 CL E G H | 128674 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 127 | 15836 | 607123 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 303 | 9462 | 311850 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 321 | 9462 | 311850 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | PTPN22 CL E G H | 26191 | 3437 | | | | ORPHA | 1 | | 31 | 9652 | 600716 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 33 | 9761 | 604198 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 56 | 9761 | 604198 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 174 | 9970 | 600404 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 175 | 9970 | 600404 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RFT1 CL E G H | 91869 | 244310 | | | | ORPHA | 1 | | 233 | 30220 | 611908 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RFT1 CL E G H | 91869 | 244310 | | | | ORPHA | 1 | | 324 | 30220 | 611908 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RGS9 CL E G H | 8787 | 75374 | | | | ORPHA | 1 | | 233 | 10004 | 604067 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RGS9 CL E G H | 8787 | 75374 | | | | ORPHA | 1 | | 305 | 10004 | 604067 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RGS9BP CL E G H | 388531 | 75374 | | | | ORPHA | 1 | | 70 | 30304 | 607814 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RGS9BP CL E G H | 388531 | 75374 | | | | ORPHA | 1 | | 99 | 30304 | 607814 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RIMS1 CL E G H | 22999 | 603649 | Cone-rod dystrophy 7 | 603649 | C1863634 | OMIM | 1 | | 498 | 17282 | 606629 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RIMS1 CL E G H | 22999 | 603649 | Cone-rod dystrophy 7 | 603649 | C1863634 | OMIM | 1 | | 674 | 17282 | 606629 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 498 | 10031 | 157660 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 609 | 10031 | 157660 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RPE65 CL E G H | 6121 | 613794 | Retinitis pigmentosa 20 | 613794 | C3151086 | OMIM | 1 | | 500 | 10294 | 180069 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RPE65 CL E G H | 6121 | 613794 | Retinitis pigmentosa 20 | 613794 | C3151086 | OMIM | 1 | | 576 | 10294 | 180069 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RPGR CL E G H | 6103 | 304020 | Cone-rod dystrophy, X-linked 1 | 304020 | C1844776 | OMIM | 1 | | 802 | 10295 | 312610 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RPGR CL E G H | 6103 | 304020 | Cone-rod dystrophy, X-linked 1 | 304020 | C1844776 | OMIM | 1 | | 847 | 10295 | 312610 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 794 | 29168 | 610937 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 964 | 29168 | 610937 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SAG CL E G H | 6295 | 613758 | Retinitis pigmentosa 47 | 613758 | C3151061 | OMIM | 1 | | 230 | 10521 | 181031 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SAG CL E G H | 6295 | 613758 | Retinitis pigmentosa 47 | 613758 | C3151061 | OMIM | 1 | | 296 | 10521 | 181031 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SALL4 CL E G H | 57167 | 959 | | | | ORPHA | 1 | | 178 | 15924 | 607343 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SALL4 CL E G H | 57167 | 959 | | | | ORPHA | 1 | | 198 | 15924 | 607343 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 1545 | 10680 | 600857 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 1778 | 10680 | 600857 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 46 | 33867 | 612848 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 54 | 33867 | 612848 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 442 | 10683 | 602690 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 507 | 10683 | 602690 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SETBP1 CL E G H | 26040 | 798 | | | | ORPHA | 1 | | 328 | 15573 | 611060 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SETBP1 CL E G H | 26040 | 798 | | | | ORPHA | 1 | | 560 | 15573 | 611060 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 146 | 16088 | 615564 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SFXN4 CL E G H | 119559 | 615578 | Combined oxidative phosphorylation deficiency 18 | 615578 | C3810001 | OMIM | 1 | | 150 | 16088 | 615564 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 1 | | 162 | 16472 | 606202 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC45A2 CL E G H | 51151 | 79435 | | | | ORPHA | 1 | | 267 | 16472 | 606202 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC45A2 CL E G H | 51151 | 606574 | Oculocutaneous albinism type 4 | 606574 | C1847836 | OMIM | 1 | | 162 | 16472 | 606202 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC45A2 CL E G H | 51151 | 606574 | Oculocutaneous albinism type 4 | 606574 | C1847836 | OMIM | 1 | | 267 | 16472 | 606202 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC4A11 CL E G H | 83959 | 1490 | Congenital ichtyosiform erythroderma | | | ORPHA | 1 | | 479 | 16438 | 610206 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC4A11 CL E G H | 83959 | 1490 | Congenital ichtyosiform erythroderma | | | ORPHA | 1 | | 533 | 16438 | 610206 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC4A11 CL E G H | 83959 | 613268 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 | C2750450 | OMIM | 1 | | 479 | 16438 | 610206 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SLC4A11 CL E G H | 83959 | 613268 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 | C2750450 | OMIM | 1 | | 533 | 16438 | 610206 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 1 | | 642 | 11103 | 601607 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SMARCB1 CL E G H | 6598 | 614608 | Mental retardation, autosomal dominant 15 | 614608 | C3553248 | OMIM | 1 | | 719 | 11103 | 601607 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 33 | 25763 | 613176 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 34 | 25763 | 613176 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SNRNP200 CL E G H | 23020 | 610359 | Retinitis pigmentosa 33 | 610359 | C1835895 | OMIM | 1 | | 497 | 30859 | 601664 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SNRNP200 CL E G H | 23020 | 610359 | Retinitis pigmentosa 33 | 610359 | C1835895 | OMIM | 1 | | 628 | 30859 | 601664 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 56 | 14974 | 614780 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 89 | 14974 | 614780 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SOX2 CL E G H | 6657 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 155 | 11195 | 184429 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SOX2 CL E G H | 6657 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 160 | 11195 | 184429 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SOX3 CL E G H | 6658 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 225 | 11199 | 313430 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SOX3 CL E G H | 6658 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 230 | 11199 | 313430 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 1494 | 11226 | 610844 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SPG11 CL E G H | 80208 | 604360 | Spastic paraplegia 11, autosomal recessive | 604360 | C1858479 | OMIM | 1 | | 1866 | 11226 | 610844 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 244 | 11448 | 603921 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SUCLA2 CL E G H | 8803 | 1933 | | | | ORPHA | 1 | | 277 | 11448 | 603921 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 389 | 20376 | 607939 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SUMF1 CL E G H | 285362 | 585 | | | | ORPHA | 1 | | 487 | 20376 | 607939 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SYNJ1 CL E G H | 8867 | 617389 | Epileptic encephalopathy, early infantile, 53 | 617389 | C4479313 | OMIM | 1 | | 730 | 11503 | 604297 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | SYNJ1 CL E G H | 8867 | 617389 | Epileptic encephalopathy, early infantile, 53 | 617389 | C4479313 | OMIM | 1 | | 909 | 11503 | 604297 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 161 | 11586 | 605842 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 162 | 11586 | 605842 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 544 | 11647 | 604592 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 674 | 11647 | 604592 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 1 | | 387 | 11654 | 606847 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TCOF1 CL E G H | 6949 | 861 | | | | ORPHA | 1 | | 438 | 11654 | 606847 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TGFBI CL E G H | 7045 | 608471 | Lattice corneal dystrophy type 3A | 608471 | C1837974 | OMIM | 1 | | 123 | 11771 | 601692 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TGFBI CL E G H | 7045 | 608471 | Lattice corneal dystrophy type 3A | 608471 | C1837974 | OMIM | 1 | | 126 | 11771 | 601692 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 201 | 11817 | 300356 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 211 | 11817 | 300356 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 151 | 25018 | 613277 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 168 | 25018 | 613277 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 402 | 28396 | 609884 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 569 | 28396 | 609884 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 129 | 11926 | 602642 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 166 | 11926 | 602642 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TP53RK CL E G H | 112858 | 617730 | GALLOWAY-MOWAT SYNDROME 4 | 617730 | C4540270 | OMIM | 1 | | 36 | 16197 | 608679 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TP53RK CL E G H | 112858 | 617730 | GALLOWAY-MOWAT SYNDROME 4 | 617730 | C4540270 | OMIM | 1 | | 37 | 16197 | 608679 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TRAPPC11 CL E G H | 60684 | 869 | | | | ORPHA | 1 | | 573 | 25751 | 614138 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TRAPPC11 CL E G H | 60684 | 869 | | | | ORPHA | 1 | | 673 | 25751 | 614138 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 198 | 12269 | 606609 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TREX1 CL E G H | 11277 | 192315 | Vasculopathy, retinal, with cerebral leukodystrophy | 192315 | C1860518 | OMIM | 1 | | 289 | 12269 | 606609 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 208 | 28422 | 608753 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 228 | 28422 | 608753 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSEN34 CL E G H | 79042 | 612390 | Pontocerebellar hypoplasia type 2C | 612390 | C2676465 | OMIM | 1 | | 132 | 15506 | 608754 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSEN34 CL E G H | 79042 | 612390 | Pontocerebellar hypoplasia type 2C | 612390 | C2676465 | OMIM | 1 | | 140 | 15506 | 608754 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 220 | 27561 | 608755 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSEN54 CL E G H | 283989 | 277470 | Pontocerebellar hypoplasia type 2A | 277470 | C1848526 | OMIM | 1 | | 265 | 27561 | 608755 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 183 | 12367 | 604723 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 244 | 12367 | 604723 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 282 | 12405 | 176300 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TTR CL E G H | 7276 | 105210 | Amyloidogenic transthyretin amyloidosis | 105210 | C2751492 | OMIM | 1 | | 306 | 12405 | 176300 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 168 | 20774 | 602662 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 181 | 20774 | 602662 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBGCP4 CL E G H | 27229 | 2518 | | | | ORPHA | 1 | | 223 | 16691 | 609610 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBGCP4 CL E G H | 27229 | 2518 | | | | ORPHA | 1 | | 291 | 16691 | 609610 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBGCP6 CL E G H | 85378 | 2518 | | | | ORPHA | 1 | | 914 | 18127 | 610053 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBGCP6 CL E G H | 85378 | 2518 | | | | ORPHA | 1 | | 1266 | 18127 | 610053 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBGCP6 CL E G H | 85378 | 251270 | Microcephaly with chorioretinopathy, autosomal recessive | 251270 | C3278481 | OMIM | 1 | | 914 | 18127 | 610053 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TUBGCP6 CL E G H | 85378 | 251270 | Microcephaly with chorioretinopathy, autosomal recessive | 251270 | C3278481 | OMIM | 1 | | 1266 | 18127 | 610053 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TWIST2 CL E G H | 117581 | 920 | Bone dysplasia Azouz type | | | ORPHA | 1 | | 92 | 20670 | 607556 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TWIST2 CL E G H | 117581 | 920 | Bone dysplasia Azouz type | | | ORPHA | 1 | | 99 | 20670 | 607556 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 79431 | | | | ORPHA | 1 | | 259 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 79431 | | | | ORPHA | 1 | | 358 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 1 | | 259 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 79434 | | | | ORPHA | 1 | | 358 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 103470 | Albinism, ocular, with sensorineural deafness | 103470 | C1863198 | OMIM | 1 | | 259 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 103470 | Albinism, ocular, with sensorineural deafness | 103470 | C1863198 | OMIM | 1 | | 358 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 606952 | Oculocutaneous albinism type 1B | 606952 | C1847024 | OMIM | 1 | | 259 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | TYR CL E G H | 7299 | 606952 | Oculocutaneous albinism type 1B | 606952 | C1847024 | OMIM | 1 | | 358 | 12442 | 606933 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 2611 | 2183 | 607817 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 3182 | 2183 | 607817 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | WT1 CL E G H | 7490 | 893 | | | | ORPHA | 1 | | 873 | 12796 | 607102 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | WT1 CL E G H | 7490 | 893 | | | | ORPHA | 1 | | 1018 | 12796 | 607102 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1264 | 20761 | 612012 |
HP:0000505 | HP:0000505 | Visual impairment | 0 | ZFYVE26 CL E G H | 23503 | 270700 | Spastic paraplegia 15 | 270700 | C1849128 | OMIM | 1 | | 1457 | 20761 | 612012 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 162 | 13666 | 605378 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 174 | 13666 | 605378 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 162 | 13666 | 605378 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 174 | 13666 | 605378 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 162 | 13666 | 605378 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 174 | 13666 | 605378 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 162 | 13666 | 605378 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 174 | 13666 | 605378 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 576 | 29 | 600046 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 664 | 29 | 600046 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 576 | 29 | 600046 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 664 | 29 | 600046 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 576 | 29 | 600046 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 664 | 29 | 600046 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 576 | 29 | 600046 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ABCA1 CL E G H | 19 | 205400 | Tangier disease | 205400 | C0039292 | OMIM | 1 | | 664 | 29 | 600046 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 914 | 57 | 603234 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1137 | 57 | 603234 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 914 | 57 | 603234 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1137 | 57 | 603234 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 914 | 57 | 603234 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1137 | 57 | 603234 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 914 | 57 | 603234 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1137 | 57 | 603234 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 257 | 216 | 602713 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 315 | 216 | 602713 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 257 | 216 | 602713 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 315 | 216 | 602713 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 257 | 216 | 602713 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 315 | 216 | 602713 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 257 | 216 | 602713 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ADAM9 CL E G H | 8754 | 612775 | Cone-rod dystrophy 9 | 612775 | C1423873 | OMIM | 1 | | 315 | 216 | 602713 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 52 | 10648 | 603605 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 66 | 10648 | 603605 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 52 | 10648 | 603605 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 66 | 10648 | 603605 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 52 | 10648 | 603605 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 66 | 10648 | 603605 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 52 | 10648 | 603605 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AIMP1 CL E G H | 9255 | 260600 | Leukodystrophy, hypomyelinating 3 | 260600 | C1850053 | OMIM | 1 | | 66 | 10648 | 603605 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 641 | 360 | 607358 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 718 | 360 | 607358 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 641 | 360 | 607358 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 718 | 360 | 607358 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 641 | 360 | 607358 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 718 | 360 | 607358 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 641 | 360 | 607358 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AIRE CL E G H | 326 | 3453 | Meier Rotschild syndrome | | | ORPHA | 1 | | 718 | 360 | 607358 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 193 | 23159 | 607905 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 241 | 23159 | 607905 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 193 | 23159 | 607905 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 241 | 23159 | 607905 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 193 | 23159 | 607905 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 241 | 23159 | 607905 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 193 | 23159 | 607905 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 241 | 23159 | 607905 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 164 | 451 | 604489 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AMACR CL E G H | 23600 | 614307 | Alpha-methylacyl-CoA racemase deficiency | 614307 | C3280428 | OMIM | 1 | | 251 | 451 | 604489 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 83 | 21014 | 606410 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 84 | 21014 | 606410 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 83 | 21014 | 606410 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 84 | 21014 | 606410 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 83 | 21014 | 606410 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 84 | 21014 | 606410 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 83 | 21014 | 606410 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 84 | 21014 | 606410 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 356 | 566 | 603401 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 467 | 566 | 603401 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 356 | 566 | 603401 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 467 | 566 | 603401 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 356 | 566 | 603401 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 467 | 566 | 603401 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 356 | 566 | 603401 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 467 | 566 | 603401 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 226 | 568 | 607246 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 394 | 568 | 607246 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 226 | 568 | 607246 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 394 | 568 | 607246 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 226 | 568 | 607246 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 394 | 568 | 607246 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 226 | 568 | 607246 |
HP:0000505 | HP:0000572 | Visual loss | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 394 | 568 | 607246 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 62 | 16876 | 606036 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 84 | 16876 | 606036 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 62 | 16876 | 606036 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 84 | 16876 | 606036 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 62 | 16876 | 606036 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 84 | 16876 | 606036 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 62 | 16876 | 606036 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 84 | 16876 | 606036 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0000505 | HP:0000572 | Visual loss | 1 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0000505 | HP:0000572 | Visual loss | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0000505 | HP:0000572 | Visual loss | 1 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0000505 | HP:0000572 | Visual loss | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0000505 | HP:0000572 | Visual loss | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0000505 | HP:0000572 | Visual loss | 1 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 499 | 12703 | 607854 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 595 | 12703 | 607854 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 499 | 12703 | 607854 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 595 | 12703 | 607854 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 499 | 12703 | 607854 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 595 | 12703 | 607854 |
HP:0000505 | HP:0000572 | Visual loss | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 499 | 12703 | 607854 |
HP:0000505 | HP:0000572 | Visual loss | 1 | BEST1 CL E G H | 7439 | 153700 | Vitelliform macular dystrophy type 2 | 153700 | C0339510 | OMIM | 1 | | 595 | 12703 | 607854 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 35 | 20914 | 609762 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 68 | 20914 | 609762 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 35 | 20914 | 609762 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 68 | 20914 | 609762 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 35 | 20914 | 609762 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 68 | 20914 | 609762 |
HP:0000505 | HP:0000572 | Visual loss | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 35 | 20914 | 609762 |
HP:0000505 | HP:0000572 | Visual loss | 1 | BLOC1S3 CL E G H | 388552 | 614077 | Hermansky-Pudlak syndrome 8 | 614077 | C3888026 | OMIM | 1 | | 68 | 20914 | 609762 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0000505 | HP:0000572 | Visual loss | 1 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 252 | 1386 | 608965 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 312 | 1386 | 608965 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 252 | 1386 | 608965 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 312 | 1386 | 608965 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 252 | 1386 | 608965 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 312 | 1386 | 608965 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 252 | 1386 | 608965 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CABP4 CL E G H | 57010 | 610427 | Congenital stationary night blindness, type 2B | 610427 | C1864877 | OMIM | 1 | | 312 | 1386 | 608965 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 658 | 1393 | 300110 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 818 | 1393 | 300110 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 658 | 1393 | 300110 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 818 | 1393 | 300110 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 658 | 1393 | 300110 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 818 | 1393 | 300110 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 658 | 1393 | 300110 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CACNA1F CL E G H | 778 | 300071 | Congenital stationary night blindness, type 2A | 300071 | C1848172 | OMIM | 1 | | 818 | 1393 | 300110 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 593 | 20202 | 608171 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 757 | 20202 | 608171 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 593 | 20202 | 608171 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 757 | 20202 | 608171 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 593 | 20202 | 608171 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 757 | 20202 | 608171 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 593 | 20202 | 608171 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CACNA2D4 CL E G H | 93589 | 610478 | Retinal cone dystrophy 4 | 610478 | C1864849 | OMIM | 1 | | 757 | 20202 | 608171 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 531 | 25695 | 612800 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 625 | 25695 | 612800 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 531 | 25695 | 612800 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 625 | 25695 | 612800 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 531 | 25695 | 612800 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 625 | 25695 | 612800 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 531 | 25695 | 612800 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 625 | 25695 | 612800 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 583 | 1497 | 300172 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 633 | 1497 | 300172 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 583 | 1497 | 300172 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 633 | 1497 | 300172 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 583 | 1497 | 300172 |
HP:0000505 | HP:0001123 | Visual field defect | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 633 | 1497 | 300172 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 583 | 1497 | 300172 |
HP:0000505 | HP:0000572 | Visual loss | 1 | CASK CL E G H | 8573 | 163937 | | | | ORPHA | 1 | | 633 | 1497 | 300172 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0000505 | HP:0100704 | Cerebral visual impairment | 1 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0000505 | HP:0007663 | Reduced visual acuity | 1 | CC2D2A CL E< |