Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Choroidal Dystrophy, Central Areolar, 1 |
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Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Macular Degeneration, Age-Related, 13 |
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Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 48 |
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Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Retinitis Pigmentosa 36 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
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Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
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Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Macular Degeneration, Early-Onset |
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Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Stargardt Disease 4 |
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Macular degeneration, Retinal flecks |
OMIM:603786 |
Hereditary Liability to Pressure Palsies (HNPP) |
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Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Retinal dysplasia |
OMIM:615041 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Spinal Muscular Atrophy, Segmental |
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Abnormal anterior horn cell morphology |
OMIM:183020 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Retinitis Pigmentosa 33 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Chorioretinal Atrophy, Progressive Bifocal |
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Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Retinal Cone Dystrophy 1 |
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Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 32 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Primary Lateral Sclerosis, Adult, 1 |
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Abnormal upper motor neuron morphology |
OMIM:611637 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Irvan Syndrome |
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Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Abnormal lower motor neuron morphology |
OMIM:607641 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Usher Syndrome, Type Iv |
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Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:616208 |
Amyotrophic Lateral Sclerosis 23 |
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Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Boucher-Neuhauser Syndrome |
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Abnormal upper motor neuron morphology, Chorioretinal dystrophy, Retinal dystrophy |
OMIM:215470 |
Juvenile Primary Lateral Sclerosis |
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Abnormal upper motor neuron morphology |
ORPHA:247604 |
Myopia 28, Autosomal Recessive |
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Retinal detachment |
OMIM:619781 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
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Amyotrophic lateral sclerosis |
OMIM:617921 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Morning Glory Disc Anomaly |
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Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Abnormal lower motor neuron morphology |
ORPHA:95434 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
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Abnormal lower motor neuron morphology |
OMIM:611067 |
Exudative Vitreoretinopathy 6 |
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Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology |
OMIM:611890 |
Primary Lateral Sclerosis |
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Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Primary Lateral Sclerosis, Juvenile |
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Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology |
OMIM:607225 |
Polyglucosan Body Neuropathy, Adult Form |
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Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
Coats Disease |
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Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Congenital Primary Aphakia |
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Retinal dysplasia |
ORPHA:83461 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology |
ORPHA:52430 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology |
ORPHA:275872 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Abnormal lower motor neuron morphology |
ORPHA:2590 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons |
OMIM:253310 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Abnormal upper motor neuron morphology |
OMIM:221770 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal lower motor neuron morphology |
ORPHA:93941 |
Machado-Joseph Disease Type 3 |
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Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ... |
ORPHA:276244 |
Spastic Paraplegia 9A, Autosomal Dominant |
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Abnormal upper motor neuron morphology |
OMIM:601162 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Optic atrophy |
OMIM:614298 |
Japanese Encephalitis |
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Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Fa... |
ORPHA:79139 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology |
ORPHA:100070 |