Leber Hereditary Optic Neuropathy, Modifier Of |
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Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 42 |
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Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... |
OMIM:612943 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Optic atrophy |
OMIM:311100 |
Auditory Neuropathy And Optic Atrophy |
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Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
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Optic atrophy |
OMIM:136600 |
Optic Atrophy 9 |
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Optic atrophy, Optic disc pallor |
OMIM:616289 |
Glaucoma 1, Open Angle, P |
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Increased cup-to-disc ratio |
OMIM:177700 |
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2 |
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Optic atrophy |
OMIM:620569 |
Intracranial Hypertension, Idiopathic |
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Papilledema |
OMIM:243200 |
Optic Atrophy 2 |
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Optic atrophy |
OMIM:311050 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
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Optic atrophy |
OMIM:165199 |
Retinitis Pigmentosa 71 |
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Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... |
OMIM:616394 |
Ocular Pigment Dispersion With Or Without Glaucoma |
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Optic atrophy |
OMIM:600510 |
Retinitis Pigmentosa 30 |
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Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Retinitis Pigmentosa 57 |
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Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
Retinitis Pigmentosa 33 |
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Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Peripheral Cone Dystrophy |
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Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
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Optic atrophy |
ORPHA:2253 |
Retinitis Pigmentosa 63 |
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Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Optic Atrophy 3, Autosomal Dominant |
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Optic atrophy, Optic disc pallor |
OMIM:165300 |
Spastic Ataxia 7, Autosomal Dominant |
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Optic atrophy |
OMIM:108650 |
Retinitis Pigmentosa 95 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
Retinitis Pigmentosa 81 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
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Optic atrophy, Optic disc pallor |
OMIM:618511 |
Night Blindness, Congenital Stationary, Type 1G |
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Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness |
OMIM:616389 |
Spastic Paraplegia 74, Autosomal Recessive |
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Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
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Optic atrophy, Optic disc pallor |
OMIM:182830 |
Optic Atrophy 12 |
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Optic atrophy, Optic disc pallor |
OMIM:618977 |
Wagner Vitreoretinopathy |
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Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
Retinitis Pigmentosa 62 |
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Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
Cone-Rod Dystrophy 17 |
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Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Retinitis Pigmentosa 28 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 26 |
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Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Retinitis Pigmentosa 50 |
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Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Retinitis Pigmentosa 70 |
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Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Retinitis Pigmentosa 32 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 11 |
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Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Retinitis Pigmentosa 38 |
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Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
Ceroid Lipofuscinosis, Neuronal, 11 |
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Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Optic Atrophy 15 |
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Optic atrophy, Optic disc pallor |
OMIM:620583 |
Liberfarb Syndrome |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Birdshot Chorioretinopathy |
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Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Optic Atrophy 6 |
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Optic atrophy, Retinal degeneration |
OMIM:258500 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
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Optic atrophy |
ORPHA:2773 |
Optic Atrophy 14 |
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Optic disc pallor |
OMIM:620550 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
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Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Usher Syndrome, Type Iiib |
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Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy |
OMIM:614504 |
Retinitis Pigmentosa 76 |
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Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... |
OMIM:617123 |
Wolfram-Like Syndrome, Autosomal Dominant |
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Optic disc pallor, Optic atrophy |
OMIM:614296 |
Infantile-Onset Spinocerebellar Ataxia |
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Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Retinitis Pigmentosa 88 |
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Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... |
OMIM:617087 |
Cone-Rod Dystrophy 16 |
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Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Irvan Syndrome |
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Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
Glaucoma 1, Open Angle, F |
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Increased cup-to-disc ratio |
OMIM:603383 |
Retinitis Pigmentosa 19 |
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Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
Retinitis Pigmentosa 78 |
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Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Microphthalmia, Isolated 5 |
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Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
Retinitis Pigmentosa 79 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
Usher Syndrome, Type 1M |
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Optic disc pallor, Drusen |
OMIM:618632 |
Retinitis Pigmentosa 73 |
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Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
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Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Leber Congenital Amaurosis 4 |
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Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Macular Dystrophy With Central Cone Involvement |
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Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... |
OMIM:616170 |
Glaucoma 3, Primary Congenital, E |
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Increased cup-to-disc ratio |
OMIM:617272 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
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Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Optic Atrophy 5 |
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Optic atrophy, Optic disc pallor |
OMIM:610708 |
Retinal Dystrophy And Obesity |
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Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Optic atrophy, Pigmentary retinopathy, Retinopathy |
OMIM:610951 |
X-Linked Spinocerebellar Ataxia Type 3 |
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Optic atrophy |
ORPHA:85297 |
Central Retinal Vein Occlusion |
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Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Retinitis Pigmentosa 13 |
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Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Retinitis Pigmentosa 1 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
Spastic Paraplegia 82, Autosomal Recessive |
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Optic atrophy |
OMIM:618770 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Optic disc pallor, Retinal thinning |
OMIM:618970 |
Retinitis Pigmentosa 86 |
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Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Striatonigral Degeneration, Infantile |
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Optic atrophy |
OMIM:271930 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
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Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... |
OMIM:311070 |
Familial Exudative Vitreoretinopathy |
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Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
Leber Congenital Amaurosis 9 |
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Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
Retinitis Pigmentosa 12 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
Cone-Rod Dystrophy, X-Linked, 3 |
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Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... |
OMIM:300476 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
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Optic atrophy, Optic disc pallor |
OMIM:618776 |
Leber Congenital Amaurosis 2 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... |
OMIM:204100 |
Retinitis Pigmentosa 49 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
Retinitis Pigmentosa 46 |
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Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612572 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
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Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretinal dysplas... |
OMIM:251270 |
Retinitis Pigmentosa 58 |
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Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
Cone-Rod Dystrophy 3 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
Retinitis Pigmentosa 10 |
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Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
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Optic atrophy, Peripheral axonal neuropathy |
OMIM:620221 |
Leber Congenital Amaurosis 14 |
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Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Early-Onset X-Linked Optic Atrophy |
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Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Retinitis Pigmentosa 41 |
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Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Mesangial sclerosis, diffuse renal, with ocular abnormalities |
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Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
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Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity |
ORPHA:440727 |
Retinitis Pigmentosa 25 |
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Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
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Optic atrophy, Peripheral axonal neuropathy |
OMIM:619425 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
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Optic atrophy, Optic disc pallor |
OMIM:612989 |
Retinitis Pigmentosa 72 |
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Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... |
OMIM:616469 |
Null Syndrome |
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Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... |
ORPHA:280234 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis |
ORPHA:3151 |
Eales Disease |
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Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:613810 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Retinitis Pigmentosa 56 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
Retinitis Pigmentosa 14 |
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Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... |
OMIM:600132 |
Optic Atrophy 8 |
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Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Juvenile Glaucoma |
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Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... |
ORPHA:98977 |
Leber Optic Atrophy |
|
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy |
OMIM:535000 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Retinitis Pigmentosa 60 |
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Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:613983 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Retinal dystrophy, Cone/cone-rod dystrophy |
ORPHA:1021 |
Jalili Syndrome |
|
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... |
OMIM:217080 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morphology, Absent bra... |
ORPHA:1215 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Glaucoma, Primary Closed-Angle |
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Increased cup-to-disc ratio |
OMIM:618880 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... |
ORPHA:320406 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... |
ORPHA:364055 |
Wildervanck Syndrome |
|
Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Aniridia 2 |
|
Optic atrophy |
OMIM:617141 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Optic disc pallor, Facial palsy |
OMIM:611490 |
Zika Virus Disease |
|
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... |
ORPHA:448237 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... |
OMIM:616959 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:268315 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... |
ORPHA:791 |
Fuchs Heterochromic Iridocyclitis |
|
Chorioretinal scar, Epiretinal membrane, Retinal perforation, Vitreous floaters, Papilledema, Opt... |
ORPHA:263479 |
Wolfram Syndrome 2 |
|
Optic atrophy, Optic neuropathy |
OMIM:604928 |
Leber Congenital Amaurosis 15 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... |
OMIM:613843 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Retinal dysplasia, Retinal detachment |
OMIM:310600 |
Stankiewicz-Isidor Syndrome |
|
Abnormal optic disc morphology |
OMIM:617516 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Abnormal optic disc morphology, Congenital stationary night blindness |
ORPHA:293967 |
Sympathetic Ophthalmia |
|
Macular edema, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, Depigmente... |
ORPHA:79098 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy |
ORPHA:397715 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal optic disc morphology, Facial palsy, Optic nerve hypoplasia, Retinal coloboma |
ORPHA:508498 |
7Q11.23 Microduplication Syndrome |
|
Abnormal optic disc morphology |
ORPHA:96121 |