Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Choroidal Dystrophy, Central Areolar, 3 |
|
Drusen, Chorioretinal atrophy |
OMIM:613144 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration |
OMIM:601780 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1 |
|
Retinal nerve fiber edema, Central retinal vessel vascular tortuosity, Retinal telangiectasia |
OMIM:619382 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... |
OMIM:204500 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Cardiomyopathy |
OMIM:609016 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:614322 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204200 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Hypermelanotic macule, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Uv-Sensitive Syndrome 3 |
|
Freckling, Cutaneous photosensitivity, Telangiectasia |
OMIM:614640 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization |
OMIM:608895 |
Uv-Sensitive Syndrome 1 |
|
Freckling, Cutaneous photosensitivity, Pigmentation anomalies of sun-exposed skin, Telangiectasia |
OMIM:600630 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Retinal telangiectasia |
OMIM:267900 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Dilated cardiomyopathy |
ORPHA:2515 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... |
OMIM:256730 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy |
OMIM:520000 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Telangiectasia of the skin |
ORPHA:3019 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuosity, Ar... |
ORPHA:104 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... |
OMIM:256731 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Urticaria, Macular ... |
ORPHA:816 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Cutis marmorata, Hypertension, Telangiectasia |
OMIM:219250 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Third degree atrioventricular block |
ORPHA:480 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cutaneous photosensitivity, Telangiectasia of the skin, Retinal telangiectasia |
ORPHA:438134 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Hypertension |
ORPHA:3156 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... |
ORPHA:280779 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Familial Multiple Trichoepithelioma |
|
Telangiectasia of the skin |
ORPHA:867 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Hypertrophic cardiomyopathy, Optic atrophy, Telangiectasia |
ORPHA:79279 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cutaneous photosensitivity, Optic atrophy |
ORPHA:1466 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels |
OMIM:204000 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Ectodermal dysplasia, Patchy atrophy of the retinal pigment ... |
ORPHA:1433 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Rombo Syndrome |
|
Facial telangiectasia |
OMIM:180730 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:618234 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:252650 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration |
OMIM:300438 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Exudative retinal detachment, Facial palsy, Retinal telangiectasia |
OMIM:158900 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypermelanotic macule, Angioedema, Erythema, Darier's sign, Flushing,... |
ORPHA:79455 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Telangiectasia of the skin, Subcutaneous c... |
ORPHA:141179 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Hypertrophic cardio... |
ORPHA:96 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Retinopathy, Optic atrophy, Abnormal macular morphology, Telangiectasia |
OMIM:608799 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Macular telangiectasia, Hypermelanotic... |
ORPHA:69125 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Telangiectasia, Cutaneous photosensitivity, Hypopigmentation of th... |
ORPHA:90342 |
Developmental And Epileptic Encephalopathy 28 |
|
Cerebral atrophy, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Hydroa Vacciniforme |
|
Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity |
ORPHA:330058 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... |
OMIM:270200 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... |
OMIM:610127 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Cutis marmorata, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypertension, Melanocytic nevus |
ORPHA:2801 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera... |
OMIM:604360 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Cardiomyopathy, Arrhythmia, Retinal degeneration |
OMIM:249270 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Prominent superficial veins, Telangiectasia of the skin, Subcutaneous c... |
ORPHA:141184 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Hypopigmented skin patches, Abnormality of skin pigmentation, Pulmona... |
ORPHA:220402 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Jaundice |
ORPHA:858 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy |
ORPHA:404451 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy... |
ORPHA:5 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy |
OMIM:616171 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy |
ORPHA:329336 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke... |
OMIM:619260 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus |
ORPHA:1573 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy |
OMIM:252011 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Alg6-Cdg |
|
Jaundice, Rod-cone dystrophy, Retinal degeneration |
ORPHA:79320 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Pulmonary arterial hypertension |
OMIM:619059 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Refsum Disease, Classic |
|
Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Cutis marmorata, Hypermelanotic macule, Optic atrophy, Cerebral ische... |
ORPHA:60040 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation |
ORPHA:873 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... |
ORPHA:542306 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Optic atrophy, Telangiectasia, Yellow/white lesions of the... |
ORPHA:93400 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Facial palsy |
ORPHA:370968 |
Acrogeria |
|
Telangiectasia of the skin, Excessive wrinkled skin, Irregular hyperpigmentation, Prematurely age... |
ORPHA:2500 |
Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Telangiectases of the cheeks, Livedo |
OMIM:615139 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Telangiectasia of the skin, Prematurely aged appearance, Premature gray... |
ORPHA:100 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
Chromosome Xp11.3 Deletion Syndrome |
|
Progeroid facial appearance, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuati... |
OMIM:300578 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Pigmentary retinopathy, Facial palsy |
OMIM:613156 |
Ramon Syndrome |
|
Optic disc pallor, Telangiectasia, Pigmentary retinopathy, Angiokeratoma |
OMIM:266270 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Cln3 Disease |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversion, Bradycardia |
ORPHA:228346 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Jaundice |
ORPHA:290 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Telangiectasia |
OMIM:612582 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... |
ORPHA:391428 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cardiomyopathy, Hypopigmentation of the skin,... |
ORPHA:1493 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... |
OMIM:264800 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... |
ORPHA:436245 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... |
ORPHA:1215 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Prolonged neonatal jaundice |
OMIM:612291 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Cerebral atrophy, Optic atrophy, Brain atrophy, Retinal degeneration |
ORPHA:442835 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Necrobiosis Lipoidica |
|
Erythema, Telangiectasia of the skin, Fragile skin |
ORPHA:542592 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Prematurely aged appearance, Telangiectasia of the skin, Myo... |
ORPHA:902 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Macular degeneration |
OMIM:619780 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun... |
ORPHA:3208 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Livedo, Facial telangiectasia, Telangiectasia |
OMIM:614564 |
Partington Syndrome |
|
Facial telangiectasia |
ORPHA:94083 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Cutaneous photosensitivity, Erythema, Fragile skin, Telangiectasia |
ORPHA:158673 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Telangiectasia of the skin, Cutis marmorata, Multiple cafe-au-lait spots, Sub... |
ORPHA:1556 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Telangiectasia |
ORPHA:101028 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... |
ORPHA:2715 |
Refsum Disease |
|
Heart block, Abnormality of retinal pigmentation, Retinopathy, Cardiomyopathy |
ORPHA:773 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Telangiectasia |
ORPHA:459033 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Telangiectasia of the skin, Erythema, Optic atrophy, Urticaria, Ab... |
ORPHA:2135 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Congestive heart failure |
OMIM:253250 |
Joubert Syndrome 6 |
|
Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Retinal degeneration |
ORPHA:79244 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Heart murmur, Cafe-au-lait s... |
ORPHA:166035 |
Pontocerebellar Hypoplasia, Type 2E |
|
Optic atrophy, Facial telangiectasia |
OMIM:615851 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Macular degeneration |
ORPHA:284289 |
Xeroderma Pigmentosum, Complementation Group B |
|
Progeroid facial appearance, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retin... |
OMIM:610651 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Werner Syndrome |
|
Progeroid facial appearance, Prematurely aged appearance, Retinal degeneration, Subcutaneous calc... |
OMIM:277700 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
Micro Syndrome |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... |
ORPHA:2510 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Retinopathy, Retinal degeneration |
OMIM:252600 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... |
ORPHA:168491 |
Schöpf-Schulz-Passarge Syndrome |
|
Ectodermal dysplasia, Facial telangiectasia |
ORPHA:50944 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Hemochromatosis, Type 1 |
|
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Hyperpigmentation of the skin |
OMIM:235200 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen... |
ORPHA:88628 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Optic atrophy, Cardiomyopathy |
OMIM:222300 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy |
OMIM:530000 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Telangiectasia of the skin, Retinal vascul... |
ORPHA:464 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Ischemic stroke, ... |
ORPHA:679 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Poor wound healing, Dilated cardiomyopathy, Cardiomyopathy, Mitral re... |
OMIM:212112 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin |
ORPHA:75508 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration |
OMIM:615249 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Pigmentary retinopathy |
ORPHA:79095 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Erythema, Cutaneous photosensitivity, White forelock |
ORPHA:742 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia, Facial erythema |
ORPHA:284227 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e... |
ORPHA:394 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Jaundice, Irregular hyperpigmentation, Generalized abnormality of ski... |
ORPHA:779 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Telangiectasia of the skin, Hypopigmented skin patches |
ORPHA:302 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:609015 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Hypertension |
ORPHA:110 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration |
OMIM:239000 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cutis marmorata, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Abnormal optic nerve m... |
ORPHA:109 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
De Sanctis-Cacchione Syndrome |
|
Cutaneous photosensitivity, Optic atrophy, Hypermelanotic macule, Telangiectasia |
OMIM:278800 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Hypermelanotic macule, Erythema, Optic a... |
ORPHA:910 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Congestive heart failure, Retinal dege... |
ORPHA:48818 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:272200 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Cutis marmorata, Raynaud phenomenon, Erythema, Livedo reticularis, Telangiectasia |
OMIM:615934 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Scleroderma, Familial Progressive |
|
Telangiectasia |
OMIM:181750 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... |
ORPHA:1969 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas... |
ORPHA:2038 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Abnormal cardiovascular system ... |
ORPHA:886 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... |
OMIM:216550 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... |
OMIM:177850 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Cutaneous photosensitivity, Hypopigmentation of the skin, Telangiectasia |
OMIM:278720 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... |
OMIM:615919 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Angiokeratoma, Transient ische... |
ORPHA:324 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Pigmentary retinopathy, Mitral regurgitation, ... |
ORPHA:746 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Jaundice, Optic nerve dysplasia |
OMIM:214110 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy |
ORPHA:436271 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Premature graying of hair, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Livedoid Vasculopathy |
|
Cutis marmorata, Telangiectasia of the skin, Poor wound healing, Abnormality of the peripheral ne... |
ORPHA:542643 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy |
OMIM:616307 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypotension, Telangiectasia |
ORPHA:454831 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... |
ORPHA:157850 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration |
ORPHA:2822 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy |
ORPHA:412057 |
Hallermann-Streiff Syndrome |
|
Optic disc coloboma, Telangiectasia, Hypertension, Chorioretinal coloboma, Pulmonary arterial hyp... |
OMIM:234100 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... |
OMIM:618733 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
Xeroderma Pigmentosum, Variant Type |
|
Cutaneous telangiectasia, Cutaneous photosensitivity, Freckles in sun-exposed areas |
OMIM:278750 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Right ventricular failure, Heart murmur, Palpitations, Facial telangiect... |
ORPHA:100093 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... |
OMIM:209900 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Congestive heart failure |
OMIM:309900 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment |
OMIM:225200 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Telangiectasia |
OMIM:604391 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:220110 |
Systemic Sclerosis |
|
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis... |
ORPHA:90291 |
Prolidase Deficiency |
|
Diffuse telangiectasia, Petechiae, Prolonged neonatal jaundice |
OMIM:170100 |
Adiposis Dolorosa |
|
Bruising susceptibility, Telangiectasia of the skin |
ORPHA:36397 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:248500 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy... |
OMIM:203800 |
Xeroderma Pigmentosum, Complementation Group E |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:278740 |
Bloom Syndrome |
|
Telangiectasia, Cutaneous photosensitivity, Retinopathy, Cafe-au-lait spot, Hypopigmentation of t... |
ORPHA:125 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Lig4 Syndrome |
|
Erythema, Cutaneous photosensitivity, Telangiectasia of the skin |
ORPHA:99812 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Freckling, Telangiectasia of extensor surfaces, Facial telan... |
OMIM:137940 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... |
OMIM:601152 |
Antiphospholipid Syndrome, Familial |
|
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion |
OMIM:107320 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... |
OMIM:120330 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Telangiectasia |
OMIM:606593 |
Friedreich Ataxia |
|
Abnormal EKG, Congestive heart failure, Optic atrophy, Abnormality of visual evoked potentials, H... |
OMIM:229300 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
OMIM:256600 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia of the skin |
OMIM:615381 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myocarditis, Telangiectasia of the skin, Pulmonary arterial hypertension |
ORPHA:81 |
Transaldolase Deficiency |
|
Telangiectasia |
OMIM:606003 |
Xeroderma Pigmentosum, Complementation Group A |
|
Cutaneous photosensitivity, Hypermelanotic macule, Telangiectasia |
OMIM:278700 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Optic atrophy, Subdural h... |
ORPHA:79282 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... |
ORPHA:247234 |
Gaucher Disease, Type I |
|
Epistaxis, Macular atrophy, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, ... |
OMIM:230800 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hypermelanotic macule, Progeroid facial appearance, Optic at... |
ORPHA:90321 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... |
ORPHA:79280 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo |
OMIM:240300 |
Focal Dermal Hypoplasia |
|
Abnormality of skin pigmentation, Erythema, Telangiectasia of the skin, Chorioretinal coloboma |
ORPHA:2092 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Telangiectasia |
ORPHA:247262 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... |
ORPHA:193 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fundus morphology, Cerebral atrophy, Macula... |
ORPHA:94147 |
Diffuse Cutaneous Systemic Sclerosis |
|
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... |
ORPHA:220393 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial telangiecta... |
ORPHA:97287 |
Trichothiodystrophy 1, Photosensitive |
|
Freckling, Cutaneous photosensitivity, Telangiectasia |
OMIM:601675 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:192 |
Poikiloderma With Neutropenia |
|
Reticular hyperpigmentation, Telangiectasia |
OMIM:604173 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c... |
ORPHA:790 |
Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Retinal degeneration |
OMIM:607014 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cutaneous photosensitivity, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Prominent superficial veins, Prematurely aged appearance, Te... |
ORPHA:79474 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Retinal atrophy, Prematurely aged appearance, Progeroid faci... |
OMIM:216400 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin |
ORPHA:85321 |
Infantile Systemic Hyalinosis |
|
Urticaria, Telangiectasia of the skin, Hyperpigmentation of the skin |
ORPHA:2176 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked pot... |
OMIM:125310 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atr... |
ORPHA:550 |
Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Decreased nerve conduct... |
ORPHA:167 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu... |
ORPHA:505248 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Cutis marmorata, Palmar telangiectasia |
ORPHA:69735 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Jaundice, Spider hemangioma, Vitiligo |
ORPHA:2137 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy... |
ORPHA:2556 |
Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology |
ORPHA:1571 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Cerebr... |
ORPHA:137667 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... |
ORPHA:485421 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera... |
OMIM:234200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua... |
OMIM:253280 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hemorrhage, P... |
ORPHA:90324 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Prematurely aged appearance, Myocardial infarction, Cardiac arrest, C... |
ORPHA:3342 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hy... |
ORPHA:255210 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Rod-cone dystrophy |
OMIM:300455 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... |
ORPHA:100075 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Pulmonary insufficiency, Retinal degeneration |
OMIM:208500 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Erythema, Telangiectasia |
ORPHA:420741 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration |
OMIM:618479 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Optic atrophy, Premature graying of hair, Exudative retinopathy, Intestin... |
OMIM:612199 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Brushfield spots, Jaundice, Optic nerve dysplasia,... |
OMIM:614866 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... |
ORPHA:580 |
Trichothiodystrophy |
|
Prematurely aged appearance, Macular degeneration, Cardiomyopathy, Numerous pigmented freckles, C... |
ORPHA:33364 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... |
OMIM:231550 |
Alagille Syndrome |
|
Hypertension, Telangiectasia of the skin |
ORPHA:52 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Optic disc pallor, Pigmentary retinopathy, Prolonged neonatal jaundice |
OMIM:214100 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Ab... |
OMIM:133540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia |
OMIM:236670 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Optic disc pallor, Reti... |
ORPHA:191 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... |
ORPHA:466768 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive ... |
OMIM:251260 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Right ventricular failure, Heart murmur, Intermittent jaundice, Palpitations, Facial telangiectasia |
ORPHA:100085 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Congestive heart failure, Hypopigmentati... |
ORPHA:14 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Pigmentary retinopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Telangiectasia |
ORPHA:495818 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Erythema, Hypopigmented skin patches, Urticaria, Irregular hyperpigme... |
ORPHA:2907 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Progeroid facial appearance, Hypertension, Ischemic stroke, Aortic valve st... |
OMIM:208050 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling, Mitral regurgitation, Dilated cardiomyopathy |
OMIM:607459 |
Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Atrioventricular block, Pigmentary retinopathy, Reduced left ventricular ejection ... |
ORPHA:581 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Hear... |
ORPHA:217085 |
Cartilage-Hair Hypoplasia |
|
Heart block, Abnormality of retinal pigmentation, Aganglionic megacolon, Cardiomyopathy |
ORPHA:175 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Erythem... |
ORPHA:221 |
Rothmund-Thomson Syndrome Type 1 |
|
Telangiectasia, Hypopigmentation of the skin, Hyperpigmentation of the skin, Facial erythema |
ORPHA:221008 |
Kindler Syndrome |
|
Telangiectasia of the skin, Spotty hypopigmentation, Spotty hyperpigmentation, Cutaneous photosen... |
OMIM:173650 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Hear... |
ORPHA:217093 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin |
OMIM:616007 |
Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae |
ORPHA:2463 |
1P36 Deletion Syndrome |
|
Telangiectasia, Dilated cardiomyopathy, Optic atrophy, Ocular albinism |
ORPHA:1606 |
Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Cutaneous photosensitivity, Telangiectasia |
OMIM:268400 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
Martin-Probst Syndrome |
|
Telangiectasia |
OMIM:300519 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Tricuspid regurgitation |
OMIM:618460 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Fragile skin, Telangiectases of the cheeks |
OMIM:616295 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epistaxis, Ocular albini... |
ORPHA:79430 |
Bloom Syndrome |
|
Spotty hypopigmentation, Facial erythema, Cutaneous photosensitivity, Facial telangiectasia in bu... |
OMIM:210900 |
H Syndrome |
|
Abnormal cardiovascular system physiology, Facial telangiectasia, Hyperpigmentation of the skin |
ORPHA:168569 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Optic atrophy, Reticular hyperpigmentation, Telangiectasia, Chorioretin... |
OMIM:305600 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Brain atrophy |
ORPHA:333 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Hypermelanotic macule, White hair, Hypopigmented skin patches, Premat... |
ORPHA:1775 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Orthostatic hypotension, Decreased adipose tissue around nec... |
OMIM:606721 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy, Corneal neovas... |
ORPHA:404454 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
Alport Syndrome |
|
Macular degeneration, Retinal flecks, Hypertension |
ORPHA:63 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
Rothmund-Thomson Syndrome |
|
Hypopigmentation of the skin, Telangiectasia of the skin, Reticular hyperpigmentation |
ORPHA:2909 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Freckling, Hypermelanotic macule, Retinal vascular proliferation, Ren... |
ORPHA:97685 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hypertrichotic hyperpigmented patch, Pulmonic stenosis, Facial telangiectasia, Pulmonary arterial... |
OMIM:602782 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Optic atrophy, Bradycardia |
ORPHA:97297 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Sudden... |
ORPHA:744 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Pulmonary... |
ORPHA:2785 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... |
ORPHA:1435 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Mitral regurgitation, Epistaxis, Telangiectasia |
OMIM:175050 |
Primary Sclerosing Cholangitis |
|
Portal hypertension, Spider hemangioma, Congestive heart failure, Jaundice, Dilated superficial a... |
ORPHA:171 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, White hair, Cardiomyopathy, Mit... |
ORPHA:576 |
Pearson Syndrome |
|
Cardiac conduction abnormality, Pigmentary retinopathy, Cardiomyopathy, Cafe-au-lait spot, Cutane... |
ORPHA:699 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... |
OMIM:219800 |
Say-Barber-Miller Syndrome |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:3132 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin |
ORPHA:276280 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Prolonged neonatal jaundice |
OMIM:118450 |
Cowden Syndrome |
|
Multiple cafe-au-lait spots, Melanocytic nevus, Hypopigmented skin patches, Mucosal telangiectasiae |
ORPHA:201 |
Hardikar Syndrome |
|
Portal hypertension, Hematemesis, Jaundice, Pigmentary retinopathy, Hypertension, Prolonged neona... |
OMIM:301068 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Fair hair, Retinal dystrophy, Macular degeneration, Hypertension, Rod-cone dystrophy, Attenuation... |
OMIM:266920 |
Glycogen Storage Disease Ic |
|
Hypertension, Pulmonary arterial hypertension, Spider hemangioma |
OMIM:232240 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Palmar telangiectasia |
OMIM:607823 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Optic disc hypoplasia, Increased subc... |
ORPHA:3455 |
Vascular Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Telangiectasia of the skin, Transient ischemic attack, Renovascular ... |
ORPHA:286 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Jaundice, Lip telangiectasia, Palmar telangiectasia |
OMIM:613471 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... |
ORPHA:64 |
Primary Ciliary Dyskinesia |
|
Rod-cone dystrophy |
ORPHA:244 |