None None None None None Diffuse Photoreceptor Dystrophies C0035334 9B70 # 268000 791 28835009 RP Retinitis pigmentosa C0035334 9B70 # 268000 791 28835009 RP RETINITIS PIGMENTOSA C0220701 None # 180100 None None RP1 RETINITIS PIGMENTOSA 1 C1838647 None # 600105 None None RP12 RETINITIS PIGMENTOSA 12 C1838702 None # 600059 None None RP13 RETINITIS PIGMENTOSA 13 C1838603 None # 600132 None None RP14 RETINITIS PIGMENTOSA 14 C1421991 None * 605446 None None RPGRIP1(a strong candidate for RP16) RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN C1833245 None # 600852 None None RETINITIS PIGMENTOSA 17 C1832378 None # 601414 None None RETINITIS PIGMENTOSA 18 C1866422 None # 601718 None None RETINITIS PIGMENTOSA 19 C3151086 None # 613794 None None RETINITIS PIGMENTOSA 20 C3887981 None % 602594 None None RETINITIS PIGMENTOSA 22 C1419610 None # 300424 None None RETINITIS PIGMENTOSA 23 C2681923 None # 312600 None None RP2 RETINITIS PIGMENTOSA 2 C3887982 None % 300155 None None RETINITIS PIGMENTOSA 24 C1864446 None # 602772 None None RETINITIS PIGMENTOSA 25 C1842127 None # 608380 None None RETINITIS PIGMENTOSA 26 C1834329 None # 613750 None None RETINITIS PIGMENTOSA 27 C1419614 None # 606068 None None RETINITIS PIGMENTOSA 28 C2677325 None % 612165 None None RETINITIS PIGMENTOSA 29 C1842816 None # 607921 None None RETINITIS PIGMENTOSA 30 C1835923 None # 609923 None None RETINITIS PIGMENTOSA 31 C1835927 None % 609913 None None RETINITIS PIGMENTOSA 32 C1835895 None # 610359 None None RETINITIS PIGMENTOSA 33 C1845667 None # 300029 None None RP3 & RP15 RETINITIS PIGMENTOSA 3 C1845104 None % 300605 None None RETINITIS PIGMENTOSA 34 C1853214 None # 610282 None None RETINITIS PIGMENTOSA 35 C1864621 None # 610599 None None RETINITIS PIGMENTOSA 36 C1970163 None # 611131 None None RETINITIS PIGMENTOSA 37 C3151228 None # 613862 None None RETINITIS PIGMENTOSA 38 C3151138 None # 613809 None None RETINITIS PIGMENTOSA 39 C3151107 None # 613801 None None RETINITIS PIGMENTOSA 40 C2677516 None # 612095 None None RETINITIS PIGMENTOSA 41 C2751986 None # 612943 None None RETINITIS PIGMENTOSA 42 C3151139 None # 613810 None None RETINITIS PIGMENTOSA 43 C3151001 None # 613731 None None RP4 RETINITIS PIGMENTOSA 4 C3151068 None # 613769 None None RETINITIS PIGMENTOSA 44 C3151066 None # 613767 None None RETINITIS PIGMENTOSA 45 C2675496 None # 612572 None None RETINITIS PIGMENTOSA 46 C3151061 None # 613758 None None RETINITIS PIGMENTOSA 47 C3151190 None # 613827 None None RETINITIS PIGMENTOSA 48 C3151059 None # 613756 None None RETINITIS PIGMENTOSA 49 C2750789 None # 613194 None None RETINITIS PIGMENTOSA 50 C3150715 None # 613464 None None RETINITIS PIGMENTOSA 51 C3150691 None # 613428 None None RETINITIS PIGMENTOSA 54 C3150808 None # 613575 None None RETINITIS PIGMENTOSA 55 C1839368 None % 312612 None None RP6 RETINITIS PIGMENTOSA 6 C3150819 None # 613581 None None RETINITIS PIGMENTOSA 56 C3150821 None # 613582 None None RETINITIS PIGMENTOSA 57 C3150879 None # 613617 None None RETINITIS PIGMENTOSA 58 C3151227 None # 613861 None None RETINITIS PIGMENTOSA 59 C3151434 None # 613983 None None RETINITIS PIGMENTOSA 60 C3280041 None # 614180 None None RETINITIS PIGMENTOSA 61 C3280042 None # 614181 None None RETINITIS PIGMENTOSA 62 C3281002 None % 614494 None None RETINITIS PIGMENTOSA 63 C3715216 None # 615233 None None RETINITIS PIGMENTOSA 66 C3809954 None # 615565 None None RETINITIS PIGMENTOSA 67 C1842475 None # 608133 None None RP7 RETINITIS PIGMENTOSA 7 C3810380 None # 615725 None None RETINITIS PIGMENTOSA 68 C4014312 None # 615780 None None RETINITIS PIGMENTOSA 69 C4014681 None # 615922 None None RETINITIS PIGMENTOSA 70 C4225342 None # 616394 None None RETINITIS PIGMENTOSA 71 C4225315 None # 616469 None None RETINITIS PIGMENTOSA 72 C4225287 None # 616544 None None RETINITIS PIGMENTOSA 73 C4225281 None # 616562 None None RETINITIS PIGMENTOSA 74 C4310759 None # 617023 None None RETINITIS PIGMENTOSA 75 C4310704 None # 617123 None None RETINITIS PIGMENTOSA 76 C4310626 None # 617304 None None RETINITIS PIGMENTOSA 77 C1867300 None # 180104 None None RP9 RETINITIS PIGMENTOSA 9 C4479481 None # 617433 None None RETINITIS PIGMENTOSA 78 C4479526 None # 617460 None None RETINITIS PIGMENTOSA 79 C4540439 None # 617781 None None RETINITIS PIGMENTOSA 80 C4693443 None # 617871 None None RETINITIS PIGMENTOSA 81 C1839079 None % 400004 None None RETINITIS PIGMENTOSA, Y-LINKED C1849400 None 268025 None None RETINITIS PIGMENTOSA, LATE-ADULT ONSET C1867299 None # 180105 None None RP10 RETINITIS PIGMENTOSA 10 C1838601 None # 600138 None None RP11 RETINITIS PIGMENTOSA 11 None None 268060 None 26216008+28835009 Pericentral RP RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE C1849398 None 268060 None None RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE C1867261 None 180210 None None RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT None None None None 410674003+28835009 Regional RP C1405854 9B70 # 136880 52427 715562001 Retinitis punctata albescens C0339527 9B70  None 65 193413001 Leber congenital amaurosis C2931258 None # 204000 None None LEBER CONGENITAL AMAUROSIS 1 C1857821 None # 611755 None None LEBER CONGENITAL AMAUROSIS 10 C1840284 None # 613837 None None LEBER CONGENITAL AMAUROSIS 11 C1857743 None # 610612 None None LEBER CONGENITAL AMAUROSIS 12 C2675186 None # 612712 None None LEBER CONGENITAL AMAUROSIS 13 C2750063 None # 613341 None None LEBER CONGENITAL AMAUROSIS 14 C3151206 None # 613843 None None LEBER CONGENITAL AMAUROSIS 15 C3280062 None # 614186 None None LEBER CONGENITAL AMAUROSIS 16 C3715164 None # 615360 None None LEBER CONGENITAL AMAUROSIS 17 C1859844 None # 204100 None None LEBER CONGENITAL AMAUROSIS 2 C1858677 None # 604232 None None LEBER CONGENITAL AMAUROSIS 3 C1858386 None # 604393 None None LEBER CONGENITAL AMAUROSIS 4 C1858301 None # 604537 None None LEBER CONGENITAL AMAUROSIS 5 C1854260 None # 613826 None None LEBER CONGENITAL AMAUROSIS 6 C3151192 None # 613829 None None LEBER CONGENITAL AMAUROSIS 7 C3151202 None # 613835 None None LEBER CONGENITAL AMAUROSIS 8 C1837873 None # 608553 None None LEBER CONGENITAL AMAUROSIS 9 C4274354 None None 364055 716663009 Severe early childhood onset retinal dystrophy C4085590 9B70 None 1872 80328002 Cone-rod dystrophy C1833564 None % 600624 None None CONE-ROD DYSTROPHY 1 C1846529 None # 610381 None None CONE-ROD DYSTROPHY 11 C2675210 None # 612657 None None CONE-ROD DYSTROPHY 12 C2750720 None # 608194 None None CONE-ROD DYSTROPHY 13 C3150912 None # 613660 None None CONE-ROD DYSTROPHY 15 C3281045 None # 614500 None None CONE-ROD DYSTROPHY 16 C3554610 None % 615163 None None CONE-ROD DYSTROPHY 17 C3809299 None # 615374 None None CONE-ROD DYSTROPHY 18 C4014501 None # 615860 None None CONE-ROD DYSTROPHY 19 C3489532 None # 120970 None None CONE-ROD DYSTROPHY 2 C1844776 None # 304020 None None CONE-ROD DYSTROPHY, X-LINKED, 1 C1848139 None % 300085 None None CONE-ROD DYSTROPHY, X-LINKED, 2 C1845407 None # 300476 None None CONE-ROD DYSTROPHY, X-LINKED, 3 C1865869 None # 602093 None None CONE-ROD DYSTROPHY 3 C1832976 None # 600977 None None CONE-ROD DYSTROPHY 5 C1866293 None # 601777 None None CONE-ROD DYSTROPHY 6 C1863634 None # 603649 None None CONE-ROD DYSTROPHY 7 C1854180 None % 605549 None None CONE-ROD DYSTROPHY 8 C1423873 None # 612775 None None CONE-ROD DYSTROPHY 9 C1846529 None # 610283 None None CONE-ROD DYSTROPHY 10 C0271092 C3665342 9B70 None 1871 267613004 Progressive cone dystrophy C1867326 None % 180020 None None RETINAL CONE DYSTROPHY 1 C1865869 None # 602093 None None CONE DYSTROPHY 3 C2751308 None # 613093 None None CONE DYSTROPHY 4 C1844775 None 304030 None None CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN C4304714 9B7Y # 610356 209932 719455002 Cone dystrophy with supernormal rod response C1843816 9B70 # 607475 85128 715647007 Bothnia retinal dystrophy C1854065 9B70 # 605670 67042 719431007 Late- onset retinal degeneration None 9B70 None None None Macular Dystrophies C0271093 9B70 None 827 70099003 Stargardt disease C1855465 None # 248200 827 None STARGARDT DISEASE 1 C1838644 None # 600110 None None STARGARDT DISEASE 3 C1863534 None # 603786 None None STARGARDT DISEASE 4 C0271093 9B70 # 248200 827 47673003 Fundus flavimaculatus C0339510 9B70 None None 90036004 Vitelliform degenerations C1850938 None None 59181 None Sorsby pseudoinflammatory fundus dystrophy C1850938 9B61 # 136900 None 193410003 Sorsby fundus dystrophy C1849694 None 264420 None None FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM C3150833 9B75.Y # 613587 247834 770667002 Occult macular dystrophy C0339512 None # 608051 None None Bull’s eye macular dystrophy C0024440 None % 153880 None None Dominant cystoid macular dystrophy C0339510 9B70 # 153700 1243 763387005 90036004 Best disease C1842914 9B70 # 608161 99000 232049001 Adult-onset foveomacular vitelliform dystrophy C2678493 None # 611809 139455 723828008 Bestrophinopathy C0339513 9B70 None 75376 193411004 Familial (dominant) drusen C0730295 None # 126700 None 312926005 BASAL LAMINAR DRUSEN C1832174 None # 126600 75376 193411004 DOYNE HONEYCOMB RETINAL DYSTROPHY None None None None None Dystrophies primarily involving the retinal pigment epithelium C0339514 9B70 None None 232051002 Pattern dystrophy of macula C4511237 9B70 None 99001 725590001 Butterfly-shaped pigment dystrophy C4551999 None # 169150 None None MACULAR DYSTROPHY, PATTERNED, 1 C1837029 None # 608970 None None MACULAR DYSTROPHY, PATTERNED, 2 C4310713 None # 617111 None None MACULAR DYSTROPHY, PATTERNED, 3 C1867332 9B70 179840 99002 723502001 Reticular dystrophy of the retinal pigment epithelium C1849407 None 267800 None None RETINAL DYSTROPHY, RETICULAR PIGMENTARY OF POSTERIOR POLE C4310680 None # 617175 None None RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES None 9B70 None 99004 None Fundus pulverulentus C4509881 9B70 None 99003 None Multi-focal pattern dystrophy simulating fundus flavimaculatus C1862382 9B70 None 86813 724384008 Helicoid peripapillary chorioretinal degeneration None None # 228980 363989 None Familial benign flecked retina C0271257 9B70 228990 99179 765191009 Kandori fleck retina None 9B61 None None None Choroidal Dystrophies C1265851 None None None 125344001 Diffuse degeneration C0008525 9B61 # 303100 180 75241009 Choroideremia C4275146 9B61 1434 None 715417002 Choroideremia – hypopituitarism C0018425 9B61 # 258870 414 314467007 Gyrate atrophy None None None None None Regional choroidal dystrophies C4304667 9B75.Y % 153870 251287 719520001 Benign concentric annular macular dystrophy C1868310 9B7Y # 172870 251295 723450004 Pigmented paravenous retinochoroidal atrophy C0730294 9B75.Y # 136550 75327 312925009 North Carolina macular dystrophy C2880771 9B61 None 75377 231996009 Central areolar choroidal dystrophy C4551884 None # 215500 None None CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1 C2751290 None # 613105 None None CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 C2751055 None % 613144 None None CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3 C1833321 9B70 % 600790 75373 719266007 Progressive bifocal chorioretinal atrophy C1859486 9B61 # 210370 41751 312927001 Bietti crystalline retinopathy None 9B70 None None None Inner Retinal and/or Vitreoretinal Dystrophies C0271091 9B73.11 # 312700 792 86923008 X-Linked retinoschisis C0339541 9B70 # 268100 53540 232065000 Goldmann-Favre syndrome C0339539 LA13.3 None 891 232063007 Familial exudative vitreoretinopathy C1851402 None # 133780 None None EXUDATIVE VITREORETINOPATHY 1 C1844579 None # 305390 None None EXUDATIVE VITREORETINOPATHY 2, X-LINKED C1854002 None % 605750 None None EXUDATIVE VITREORETINOPATHY 3 C1866176 None # 601813 None None EXUDATIVE VITREORETINOPATHY 4 C2750079 None # 613310 None None EXUDATIVE VITREORETINOPATHY 5 C4225316 None # 616468 None None EXUDATIVE VITREORETINOPATHY 6 C4539767 None # 617572 None None EXUDATIVE VITREORETINOPATHY 7 C4015146 None # 616079 397758 None Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies None None None None 56019007+56019007+314407005 Systemic/syndromic diseases associated with retinal dystrophies C0000744 None # 200100 14 190787008 Bassen-Kornzweig syndrome C0268274 5C56.00 None 309152 33316007 GM2 gangliosidosis C0039373 5C56.00 # 272800 845 111385000 TAY-SACHS DISEASE C0268275 5C56.00 # 272750 309246 None GM2-GANGLIOSIDOSIS, AB VARIANT C0036161 5C56.00 # 268800 796 23849003 SANDHOFF DISEASE C1857802 9B70 # 610156 75858 715628009 MORM syndrome SENIOR-LOKEN SYNDROME 1 SENIOR-LOKEN SYNDROME 3 SENIOR-LOKEN SYNDROME 4 SENIOR-LOKEN SYNDROME 5 SENIOR-LOKEN SYNDROME 6 SENIOR-LOKEN SYNDROME 7 SENIOR-LOKEN SYNDROME 8 SENIOR-LOKEN SYNDROME 9 9B70 C0948368 # 236700 2473 702407009 McKusick Kaufman syndrome C0795873 None # 300578 85332 None X- linked intellectual disability - retinitis pigmentosa syndrome C1835265 BD93.0 # 152950 2526 733604003 Microcephaly-lymphedema-chorioretinopathy syndrome C0034960 5C57.1 # 266500 773 25362006 Refsum disease C3281192 None # 614559 313850 None Infantile cerebellar retinal degeneration C3888099 9E1Y # 193220 263347 771342004 MRCS syndrome C2931831 None 267760 1574 723503006 Retinal degeneration- nanophthalmos- glaucoma syndrome C1837530 5C55.0Y # 608688 250977 725289009 AICA-ribosiduria C1852752 LD2F.1Y 120400 1471 717785002 Sorsby syndrome C0282527 5C57.1 # 601539 772 238062008 Infantile Refsum disease C0022541 9C82.0 # 530000 480 25792000 Kearns-Sayre syndrome C4302525 None 216800 91494 722463001 Macular coloboma-cleft palate-hallux valgus syndrome C0037231 5C52.03 # 270200 816 111303009 Sjögren-Larsson syndrome C0265223 LD90.Y # 216550 193 56604005 Cohen syndrome C2931722 None None 2235 733113002 Hypogonadotropic hypogonadism- retinitis pigmentosa syndrome C1855675 LD20.0Y None 2318 721862000 Joubert syndrome with oculorenal defect C1855675 LD20.0Y % 243910 2318 721862000 ARIMA SYNDROME C1842577 None # 608091 None None JOUBERT SYNDROME 2 C1857780 None # 610188 None None JOUBERT SYNDROME 5 C2676788 None # 612285 None None JOUBERT SYNDROME 9 C3280766 None # 614424 None None JOUBERT SYNDROME 14 C3280906 None # 614465 None None JOUBERT SYNDROME 16 C3539071 None # 614844 None None NEPHRONOPHTHISIS 14 C0752166 5A61.0 None 110 5619004 Bardet-Biedl syndrome C1850332 LD27.0Y 257960 2718 722062004 Oculotrichodysplasia C2675204 None # 612674 171848 723452007 Polyneuropathy- hearing loss- ataxia- retinitis pigmentosa- cataract syndrome None None None 436274 None Pseudoxanthoma elasticum- like skin manifestations with retinitis pigmentosa C1849401 None 268020 3085 724001005 Retinitis pigmentosa- intellectual disability- deafness- hypogonadism syndrome C1865794 LD2F.1Y 602152 140976 723999009 RHYNS syndrome SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY C2936862 None # 209900 None None BARDET-BIEDL SYNDROME 1 C1859568 None # 615987 None None BARDET-BIEDL SYNDROME 10 C1859569 None # 615988 None None BARDET-BIEDL SYNDROME 11 C1859570 None # 615989 None None BARDET-BIEDL SYNDROME 12 C2673873 None # 615990 None None BARDET-BIEDL SYNDROME 13 C2673874 None # 615991 None None BARDET-BIEDL SYNDROME 14 C3150127 None # 615992 None None BARDET-BIEDL SYNDROME 15 C3889474 None # 615993 None None BARDET-BIEDL SYNDROME 16 C3714980 None 615994 None None BARDET-BIEDL SYNDROME 17 C3806174 None # 615995 None None BARDET-BIEDL SYNDROME 18 C3889475 None # 615996 None None BARDET-BIEDL SYNDROME 19 C2936863 None # 615981 None None BARDET-BIEDL SYNDROME 2 C4310707 None # 617119 None None BARDET-BIEDL SYNDROME 20 C4319932 None # 617406 None None BARDET-BIEDL SYNDROME 21 C0023138 LD90.Y # 245800 2377 232059000 LAURENCE-MOON SYNDROME C1859564 None # 600151 None None BARDET-BIEDL SYNDROME 3 C2936864 None # 615982 None None BARDET-BIEDL SYNDROME 4 C3892039 None # 615983 None None BARDET-BIEDL SYNDROME 5 C1858054 None # 605231 None None BARDET-BIEDL SYNDROME 6 C1859565 None # 615984 None None BARDET-BIEDL SYNDROME 7 C1859566 None # 615985 None None BARDET-BIEDL SYNDROME 8 C1859567 None # 615986 None None BARDET-BIEDL SYNDROME 9 C0271097 LD2H.4 None 886 57838006 Usher syndrome C4509974 None 270950 3011 723621000 Spastic tetraplegia- retinitis pigmentosa- intellectual disability syndrome C1850101 None 260200 None None PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA C1849405 None 268010 None None RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS C1853197 None 610319 None None RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA C1846582 5C64.10 #607236 157855 None HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION C1568247 LD2H.4 None 231169 232057003 Usher syndrome type 1 C1568247 None # 276900 None None USHER SYNDROME, TYPE I C1848604 None # 276904 None None USHER SYNDROME, TYPE IC C1832845 None # 601067 None None USHER SYNDROME, TYPE ID C1865865 None % 602097 None None USHER SYNDROME, TYPE IE C1865885 None # 602083 None None USHER SYNDROME, TYPE IF C1847089 None # 606943 None None USHER SYNDROME, TYPE IG C2675458 None % 612632 None None USHER SYNDROME, TYPE IH C3553944 None # 614869 None None USHER SYNDROME, TYPE IJ C3539124 None % 614990 None None USHER SYNDROME, TYPE IK C0339534 LD2H.4 None 231178 232058008 Usher syndrome type 2 C1848634 None # 276901 None None USHER SYNDROME, TYPE IIA C2931213 None # 605472 None None USHER SYNDROME, TYPE IIC C1568249 None # 611383 None None USHER SYNDROME, TYPE IID C1568248 LD2H.4 None 231183 None Usher syndrome type 3 C1568248 None # 276902 None None USHER SYNDROME, TYPE IIIA C3281066 None # 614504 None None USHER SYNDROME, TYPE IIIB C0271097 None #500004 886 57838006 Retinitis Pigmentosa-deafness syndrome C1836916 None #609033 None 724065003 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA C1836898 None 609047 None None SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA C4693498 None #617879 None None LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS C0268425 LD2H.Y # 203800 64 63702009 Alstrom syndrome C0043459 5C57.0 None 912 88469006 Zellweger syndrome C0043459 None # 214100 None 88469006 PEROXISOME BIOGENESIS DISORDER 1A C0282527 None # 601539 None None PEROXISOME BIOGENESIS DISORDER 1B C0026708 5C56.30 # 607016 93474 73123008 Scheie syndrome None None None None None Congenital & Stationary Retinal Diseases C0339535 9D45 None 215 232061009 Congenital stationary night blindness (CSNB) C1864869 None # 610445 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 C1876182 None # 163500 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 C1864870 None # 610444 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 C4041558 None # 610427 None None CONE ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE C4225345 None # 616389 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G C4310758 None # 617024 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H None None None None None With normal fundus C0339535 None None None None Congenital stationary night-blinding disease with normal fundi None None None None None Complete type C1850362 None # 257270 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B C3495587 None # 310500 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A C2750747 None # 613216 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C C3151193 None # 613830 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D C3281215 None # 614565 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E C3554399 None # 615058 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F None None None None None Incomplete type C1848172 None # 300071 None None NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A C0268505 9B7Y # 300600 178333 725168006 Aland Island eye disease C4302876 9B70 None 75378 722066001 Oligocone trichromacy None None None 215 None With abnormal fundus None None None None None Congenital night- blinding disorders with prominent fundus abnormality C0311338 9B70 # 136880 None 764939004 Fundus albipunctatus C1306122 9B70 None 75382 193687000 Oguchi disease C4551824 None # 258100 None None OGUCHI DISEASE 1 C3150678 None # 613411 None None OGUCHI DISEASE 2 C3159311 9B70 % 300843 90001 718718009 X-linked cone dysfunction syndrome with myopia C0339537 9B70 # 303700 16 24704003 Blue cone monochromatism None None None None None Chorioretinal Dystrophy C4302545 LA12.Y None 1884 722437006 Ectopia lentis - chorioretinal dystrophy – myopia syndrome IRD_1_18 C4014856 None # 615973 None None CONE-ROD DYSTROPHY 20 IRD_1_19 C4049066 None # 616502 None None CONE-ROD DYSTROPHY 21 IRD_2_3_9_2 None 9B70 None None None Familial flecked retinopathy IRD_6_12 C1857588 9B70 204110 1021 720983002 Amaurosis – hypertrichosis IRD_6_14 C0403553 9B70 None 3156 236531005 Senior-Loken syndrome IRD_6_16 C1844836 LD2H.Y # 303110 1435 717761005 Choroideremia - deafness – obesity IRD_6_18 None None None None None Autosomal recessive choroidopathy microcephaly syndrome IRD_6_18_1 C3278481 None # 251270 None None MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 IRD_6_18_2 C4015388 None # 616335 None MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 IRD_6_20 C1855188 None #250410 166035 None Brachydactyly-short stature-retinitis pigmentosa syndrome IRD_6_22 C3809567 None # 615458 369970 774212003 Microcornea- myopic chorioretinal atrophy telecanthus syndrome IRD_6_24 C3554593 None # 615147 None None Retinal dystrophy, iris coloboma, and comedogenic acne syndrome IRD_6_26 None None None 423479 732246009 X- linked intellectual disability limb spasticity retinal dystrophy- diabetes insipidus syndrome IRD_6_28 C1857041 LD27.0Y # 225280 1897 720856002 EEM syndrome IRD_6_30 None 5C64.41 # 248190 2196 None Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement IRD_6_32 C4509838 LD27.0Y # 601553 1573 723364003 Hypotrichosis with juvenile macular degeneration IRD_6_34 None None None 314572 771476007 Autosomal recessive leukoencephalopathy- ischemic stroke- retinitis pigmentosa syndrome IRD_6_36 None None # 616722 488197 None Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome IRD_6_38 C4274118 LD20.0Y None 220493 716998009 Joubert syndrome with ocular defect IRD_6_38_1 C1837713 None # 608629 None None JOUBERT SYNDROME 3 IRD_6_38_2 C3280766 None # 614424 None None JOUBERT SYNDROME 14 IRD_6_38_3 C3280897 None # 614464 None None JOUBERT SYNDROME 15 IRD_6_38_4 C3554235 None # 614970 None None JOUBERT SYNDROME 20 IRD_6_38_5 C4310705 None # 617121 None None JOUBERT SYNDROME 28 IRD_6_40 C0342281 None % 158500 2579 None Muscular atrophy- ataxia- retinitis pigmentosa- diabetes mellitus syndrome IRD_6_42 C4302825 None None 2653 722108000 Osteochondrodysplatic nanism- deafness retinitis pigmentosa syndrome IRD_6_44 None None # 300455 247522 719282008 Primary ciliary dyskinesia- retinitis pigmentosa syndrome IRD_6_46 None None # 617763 494439 None Retinitis pigmentosa- hearing loss- premature aging- short suture- facial dysmorphism syndrome IRD_6_48 C4015242 None # 616108 436245 None Retinitis pigmentosa- juvenile cataract- short stature- intellectual disability syndrome IRD_6_50 C1849437 LD24.8Y None 140969 254092004 Saldino- Mainzer syndrome IRD_6_50_1 C4017371 None # 266920 None None SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY IRD_6_50_2 C3810175 None # 615630 None None SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY IRD_6_52 None None # 615434 None None RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS IRD_6_54 C1849112 None 270950 None None SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION IRD_6_56 C2678011 None %300719 None None DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES IRD_6_58 C4310776 None #616959 None None RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS IRD_6_60 C1328349 8C73.1 #551500 644 None NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA IRD_6_62 C1832214 None %601537 None None MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT IRD_6_64 C1968843 None #611040 None None MICROPHTHALMIA, ISOLATED 5 IRD_6_66 C4310657 None # 617236 None None CONE-ROD DYSTROPHY AND HEARING LOSS IRD_6_67 C1864690 LD21.0 # 610125 178364 718761007 MICROPHTHALMIA, SYNDROMIC 5 IRD_6_68 C0268255 5C56.0Y # 228000 333 79935000 Farber disease IRD_6_69 C0268233 5C56.21 # 256540 351 35691006 Galactosialidosis IRD_6_70 C0023521 8A44.4 # 245200 487 192782005 Krabbe disease IRD_6_71 C0238286 None # 252650 578 725296006 Mucolipidosis type IV IRD_6_72 C0027877 5C56.1 None 216 42012007 Neuronal ceroid lipofuscinosis IRD_6_72_1 None None # 256730 None None CEROID LIPOFUSCINOSIS, NEURONAL, 1 IRD_6_72_10 None None # 614706 None None CEROID LIPOFUSCINOSIS, NEURONAL, 11 IRD_6_72_11 None None # 615362 None None CEROID LIPOFUSCINOSIS, NEURONAL, 13 IRD_6_72_2 None None # 204500 None None CEROID LIPOFUSCINOSIS, NEURONAL, 2 IRD_6_72_3 None None # 204200 None None CEROID LIPOFUSCINOSIS, NEURONAL, 3 IRD_6_72_4 None None # 256731 None None CEROID LIPOFUSCINOSIS, NEURONAL, 5 IRD_6_72_5 None None # 601780 None None CEROID LIPOFUSCINOSIS, NEURONAL, 6 IRD_6_72_6 None None # 610951 None None CEROID LIPOFUSCINOSIS, NEURONAL, 7 IRD_6_72_7 None None # 600143 None None CEROID LIPOFUSCINOSIS, NEURONAL, 8 IRD_6_72_8 None None %609055 None None CEROID LIPOFUSCINOSIS, NEURONAL, 9 IRD_6_72_9 None None # 610127 None 720830009 CEROID LIPOFUSCINOSIS, NEURONAL, 10 IRD_6_73 C0220756 5C56.0Y None 646 66751000 Niemann- pick disease type C IRD_6_73_1 None None # 257220 None None NIEMANN-PICK DISEASE, TYPE C1 IRD_6_73_2 None None # 607625 None None NIEMANN-PICK DISEASE, TYPE C2 IRD_6_74 C2931789 None None 1995 732247000 Cleft lip retinopathy syndrome IRD_6_75 None None None None None Panthenate kinase- associated neuodegeneration IRD_6_76 C4275241 None 312550 1852 715240000 X- linked retinal dysplasia C4551953 None % 153840 None None MACULAR DYSTROPHY, VITELLIFORM, 1 C2745945 None # 153700 1243 None MACULAR DYSTROPHY, VITELLIFORM, 2 C1842914 None # 608161 None None MACULAR DYSTROPHY, VITELLIFORM, 3 C4015342 None # 616151 None None MACULAR DYSTROPHY, VITELLIFORM, 4 C4015343 None # 616152 None None MACULAR DYSTROPHY, VITELLIFORM, 5 C0085131 5C56.00 None 354 238025006 GM1 gangliosidosis 5C56.00 79255 GM1-GANGLIOSIDOSIS, TYPE I C0268272 5C56.00 # 230600 79256 18756002 GM1-GANGLIOSIDOSIS, TYPE II C0268273 5C56.00 # 230650 79257 238027003 GM1-GANGLIOSIDOSIS, TYPE III C4551559 None # 266900 None None SENIOR-LOKEN SYNDROME 1 C1846980 None % 606995 None None SENIOR-LOKEN SYNDROME 3 C1846979 None # 606996 None None SENIOR-LOKEN SYNDROME 4 C1836517 None # 609254 None None SENIOR-LOKEN SYNDROME 5 C1857779 None # 610189 None None SENIOR-LOKEN SYNDROME 6 C3150877 None # 613615 None None SENIOR-LOKEN SYNDROME 7 C4225376 None # 616307 None None SENIOR-LOKEN SYNDROME 8 C4225263 None # 616629 None None SENIOR-LOKEN SYNDROME 9 JOUBERT SYNDROME 3 JOUBERT SYNDROME 14 JOUBERT SYNDROME 15 JOUBERT SYNDROME 20 JOUBERT SYNDROME 28