Retinitis Pigmentosa, Late-Adult Onset |
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Rod-cone dystrophy |
OMIM:268025 |
Cone-Rod Dystrophy, X-Linked, 2 |
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Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
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Rod-cone dystrophy |
OMIM:615565 |
Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Cone-Rod Dystrophy 19 |
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Retinal dystrophy, Cone/cone-rod dystrophy |
OMIM:615860 |
Retinitis Pigmentosa 24 |
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Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
Retinitis Pigmentosa, Y-Linked |
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Rod-cone dystrophy |
OMIM:400004 |
Retinitis Pigmentosa 55 |
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Rod-cone dystrophy |
OMIM:613575 |
Retinoschisis, Autosomal Dominant |
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Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
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Macular atrophy |
OMIM:601341 |
Cone-Rod Dystrophy 5 |
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Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
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 |
Choroidal Dystrophy, Central Areolar, 3 |
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Chorioretinal atrophy, Drusen |
OMIM:613144 |
Macular Dystrophy, Patterned, 2 |
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Foveal hyperpigmentation, Drusen |
OMIM:608970 |
Choroidal Dystrophy, Central Areolar, 1 |
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Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
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Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Macular Degeneration, Age-Related, 13 |
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Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Retinitis Pigmentosa 48 |
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Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Exudative Vitreoretinopathy 7 |
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Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Macular Dystrophy, Patterned, 3 |
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Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Macular Degeneration, Early-Onset |
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Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Stargardt Disease 4 |
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Macular degeneration, Retinal flecks |
OMIM:603786 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
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Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Macular Degeneration, X-Linked Atrophic |
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Macular degeneration |
OMIM:300834 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinoschisis 1, X-Linked, Juvenile |
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Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
X-Linked Retinal Dysplasia |
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Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
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Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Macular Degeneration, Age-Related, 1 |
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Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Retinitis Pigmentosa 13 |
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Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Familial Drusen |
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Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Retinitis Pigmentosa 38 |
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Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Retinitis Pigmentosa 33 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Coloboma Of Macula |
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Macular coloboma |
OMIM:120300 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Retinitis Pigmentosa 84 |
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Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Chorioretinal Atrophy, Progressive Bifocal |
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Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Leber Congenital Amaurosis With Early-Onset Deafness |
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Retinal degeneration |
OMIM:617879 |
Birdshot Chorioretinopathy |
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Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Retinitis Pigmentosa 50 |
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Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Exudative Vitreoretinopathy 6 |
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Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
Retinitis Pigmentosa 32 |
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Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 68 |
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Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
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 |
Irvan Syndrome |
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Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Vitreoretinal Degeneration, Snowflake Type |
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Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Exudative Vitreoretinopathy 2, X-Linked |
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Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Exudative Vitreoretinopathy 1 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
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Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Vitreoretinopathy, Neovascular Inflammatory |
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Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Familial Dilated Cardiomyopathy |
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Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
Coronary Arterial Fistula |
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Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
Myopia 28, Autosomal Recessive |
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Retinal detachment |
OMIM:619781 |
Atrial Fibrillation, Familial, 10 |
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Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
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Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... |
ORPHA:422 |
Retinitis Pigmentosa 45 |
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Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Atrial Septal Defect, Sinus Venosus Type |
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Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
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Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
Coats Disease |
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Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
Atrial Septal Defect, Coronary Sinus Type |
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Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
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Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |