| Stargardt Disease 1 |
|
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa |
OMIM:248200 |
| Retinoschisis, Autosomal Dominant |
|
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation |
OMIM:180270 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization |
OMIM:615439 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Exudative Vitreoretinopathy 7 |
|
Retinal hole, Vitreoretinopathy, Retinal degeneration |
OMIM:617572 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Retinitis Pigmentosa 36 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... |
OMIM:610599 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| 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, 2 |
|
Macular degeneration |
OMIM:153800 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy |
OMIM:603649 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... |
OMIM:608051 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Stargardt Disease 3 |
|
Macular atrophy, Macular flecks, Macular dystrophy |
OMIM:600110 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| Leber Congenital Amaurosis 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration |
OMIM:618513 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... |
OMIM:180210 |
| Macular Dystrophy, Vitelliform, 2 |
|
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy |
OMIM:153700 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Liberfarb Syndrome |
|
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy |
OMIM:609923 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
| Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615990 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... |
OMIM:610359 |
| Retinitis Pigmentosa 13 |
|
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration |
OMIM:600059 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:609913 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Lattice retinal degeneration, Retinal detachment |
OMIM:150500 |
| Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits |
OMIM:605670 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... |
ORPHA:75377 |
| Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... |
ORPHA:97341 |
| Ceroid Lipofuscinosis, Neuronal, 6 |
|
Retinal degeneration |
OMIM:601780 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent otitis media, Defective T ce... |
OMIM:615615 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration |
OMIM:610381 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration |
OMIM:615922 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Retinitis Pigmentosa 38 |
|
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor |
OMIM:613862 |
| Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
| Immunodeficiency 24 |
|
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... |
OMIM:615897 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Retinitis Pigmentosa 30 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... |
OMIM:607921 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
| Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation |
ORPHA:35612 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration |
OMIM:609021 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... |
OMIM:603075 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy |
OMIM:600977 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy |
OMIM:136550 |
| Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Stargardt Disease |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... |
ORPHA:827 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... |
ORPHA:85128 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Macular atrophy, Optic atrophy, Cranial nerve compression |
OMIM:250450 |
| Retinitis Pigmentosa 46 |
|
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... |
OMIM:612572 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Retinitis Pigmentosa 11 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... |
OMIM:600138 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... |
OMIM:618144 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... |
OMIM:143200 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy |
ORPHA:75373 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
| Retinitis Pigmentosa 54 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613428 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degeneration, Optic disc ... |
OMIM:618195 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... |
OMIM:618697 |
| Retinitis Pigmentosa 61 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:614180 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:619007 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy |
OMIM:614307 |
| Retinitis Pigmentosa 88 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:618826 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... |
OMIM:608161 |
| Retinitis Pigmentosa 84 |
|
Macular atrophy, Rod-cone dystrophy, Macular coloboma |
OMIM:618220 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... |
OMIM:617123 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy |
OMIM:172870 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180104 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Pigmentary retinopathy, Retinal degeneration |
OMIM:275400 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... |
OMIM:614500 |
| Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor |
OMIM:606068 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Retinal dystrophy |
OMIM:615147 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... |
OMIM:251270 |
| Retinitis Pigmentosa 7 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... |
OMIM:608133 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... |
OMIM:601718 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Cystoid macular degeneration, Retinal degeneration |
OMIM:267760 |
| Microphthalmia, Isolated 5 |
|
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... |
OMIM:611040 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold |
OMIM:605750 |
| Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
| Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312612 |
| Retinitis Pigmentosa 2 |
|
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312600 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
| Achromatopsia |
|
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... |
ORPHA:49382 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... |
ORPHA:411527 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... |
OMIM:267500 |
| Retinitis Pigmentosa 86 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:618613 |
| Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration |
|
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity |
OMIM:608895 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... |
OMIM:613750 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
| Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment, Retinal dystrophy |
OMIM:616188 |
| Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment |
OMIM:304030 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Macular degeneration, Retinal degeneration |
OMIM:256730 |
| Achromatopsia 7 |
|
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex |
OMIM:616517 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
| Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180100 |
| Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Fundus atrophy |
OMIM:204100 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... |
ORPHA:79435 |
| Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy |
OMIM:616502 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration |
OMIM:264420 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
| Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
| Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy |
OMIM:613660 |
| Eem Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy |
ORPHA:1897 |
| Dilution, Pigmentary |
|
Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation... |
OMIM:126070 |
| Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy |
OMIM:617304 |
| Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:612095 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... |
OMIM:604116 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Thrombocytopenia, E... |
OMIM:614493 |
| Leber Congenital Amaurosis 15 |
|
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor |
OMIM:613843 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:141 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment |
OMIM:614224 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... |
OMIM:145350 |
| Oguchi Disease |
|
Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness |
ORPHA:75382 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Albinism, Freckling, Hypopigmentation... |
ORPHA:79434 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
| Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma |
ORPHA:2196 |
| Bardet-Biedl Syndrome 21 |
|
Retinal atrophy, Retinal thinning, Cone/cone-rod dystrophy, Hyperautofluorescent macular lesion, ... |
OMIM:617406 |
| Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment |
OMIM:193230 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy |
OMIM:212550 |
| Coloboma Of Optic Nerve |
|
Retinal detachment |
OMIM:120430 |
| Retinal Detachment |
|
Retinal detachment |
OMIM:180050 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... |
ORPHA:179 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the fundus, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin |
OMIM:606952 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning |
OMIM:270200 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Leber Congenital Amaurosis 4 |
|
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:604393 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, Abnormal morphology o... |
ORPHA:352731 |
| Sjögren-Larsson Syndrome |
|
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... |
ORPHA:816 |
| Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... |
OMIM:605549 |
| Retinitis Pigmentosa 51 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... |
OMIM:613464 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc |
ORPHA:65 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Melanocytic nevus, Freckling, Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... |
OMIM:607594 |
| Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy |
OMIM:204000 |
| Morning Glory Disc Anomaly |
|
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:35737 |
| Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
| Retinitis Pigmentosa 83 |
|
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... |
OMIM:618173 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... |
ORPHA:79432 |
| Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor |
OMIM:180105 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:264470 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Rod-cone dystrophy |
OMIM:204200 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy |
OMIM:268050 |
| Retinitis Pigmentosa 49 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613756 |
| Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... |
OMIM:613581 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplas... |
OMIM:619165 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
| Retinitis Pigmentosa 50 |
|
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Joubert Syndrome 28 |
|
Pigmentary retinopathy, Optic disc pallor |
OMIM:617121 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:613810 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Macular atrophy, Optic atrophy, Retinopathy, Optic disc pallor |
OMIM:616171 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
| Retinitis Pigmentosa 58 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613617 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1466 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Retinal degeneration |
OMIM:615994 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration |
OMIM:300438 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
| Retinitis Pigmentosa 25 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis |
ORPHA:1390 |
| Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
| Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:615986 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Cone-Rod Dystrophy 10 |
|
Cone/cone-rod dystrophy, Abnormality of skin pigmentation, Macular degeneration, Rod-cone dystrophy |
OMIM:610283 |
| Retinitis Punctata Albescens |
|
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... |
ORPHA:52427 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
| Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor |
OMIM:617460 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... |
OMIM:606843 |
| Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal thinning, Retinal dystrophy |
OMIM:615960 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, Lack of T cell function, Lymphopenia, Recurre... |
ORPHA:277 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular hyper... |
OMIM:120970 |
| Narp Syndrome |
|
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Optic dis... |
ORPHA:644 |
| Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology |
ORPHA:791 |
| Juvenile Paget Disease |
|
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2801 |
| Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... |
OMIM:600132 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis |
OMIM:605808 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... |
OMIM:619374 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... |
ORPHA:364055 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
| Retinal Cone Dystrophy 3B |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Macular atrophy, Rod-cone dystrophy, Optic disc pallor |
OMIM:615434 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Bronchiectasi... |
OMIM:300853 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:604360 |
| Vitreoretinochoroidopathy |
|
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... |
OMIM:193220 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy |
OMIM:602499 |
| Enhanced S-Cone Syndrome |
|
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy |
OMIM:268100 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... |
OMIM:305390 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials |
ORPHA:96 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Abnormalit... |
ORPHA:79431 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Retinal degeneration |
OMIM:618329 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... |
OMIM:617241 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration |
OMIM:249270 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:613819 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... |
ORPHA:284454 |
| Neurocutaneous Melanocytosis |
|
Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic nevus, Numerous congenit... |
ORPHA:2481 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... |
OMIM:617765 |
| Griscelli Syndrome, Type 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity |
OMIM:607624 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, Re... |
ORPHA:5 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Optic atrop... |
OMIM:616648 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... |
OMIM:618534 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration |
ORPHA:79264 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
| Albinism, Oculocutaneous, Type Ii |
|
Freckles in sun-exposed areas, Albinism, Hypopigmentation of hair, Red hair, Hypopigmentation of ... |
OMIM:203200 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
| Leigh Syndrome With Leukodystrophy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
| Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Pigmentary retinopathy |
ORPHA:370968 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:601859 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... |
OMIM:240500 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Pigmentary retinopathy |
OMIM:606721 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
| Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
| Retinitis Pigmentosa 35 |
|
Cone/cone-rod dystrophy, Abnormality of skin pigmentation, Rod-cone dystrophy |
OMIM:610282 |
| Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
| 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 |
|
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... |
ORPHA:1215 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
| Werner Syndrome |
|
Retinal degeneration |
OMIM:277700 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Attenuation of retinal blood vessels, Retinal degeneration, Abnormal auditory ev... |
OMIM:619260 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Angioid streaks of the fundus, Retinopathy, Retinal degeneration |
OMIM:239000 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... |
OMIM:609033 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... |
OMIM:193235 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:268020 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Pigmentary retinopathy |
OMIM:613156 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... |
ORPHA:79433 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... |
OMIM:133780 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections, Defective T cell proliferation |
OMIM:618847 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Retinal atrophy, Retinal pigment epithelial atrophy, Epi... |
OMIM:616959 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... |
ORPHA:1493 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... |
OMIM:600802 |
| Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation |
OMIM:108145 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... |
ORPHA:2715 |
| Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... |
ORPHA:35078 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor |
ORPHA:216866 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Blotching pigmentation of the... |
OMIM:560000 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Skin rash, Chronic hepatitis due to cryptosporidium in... |
ORPHA:572 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... |
OMIM:308230 |
| Joubert Syndrome 6 |
|
Chorioretinal coloboma, Retinal degeneration |
OMIM:610688 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cafe-au-lait spot, Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Retinal d... |
ORPHA:166035 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor |
OMIM:617523 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the fundus, Ocular albinism, Hypopigmentation of the skin |
OMIM:614171 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
ORPHA:391428 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Abnormality of visual evoked potentials, Re... |
ORPHA:168491 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Melanocytic nevus, Abnormality of retinal pigmentation, Generalized hypopigmentation, Multiple ca... |
ORPHA:1969 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:615630 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Skin rash, Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportio... |
ORPHA:331206 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
| Papillorenal Syndrome |
|
Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Macular hyperpigmentation, Retina... |
OMIM:120330 |
| Zika Virus Disease |
|
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... |
ORPHA:448237 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration |
OMIM:615249 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Retinal degeneration |
ORPHA:442835 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... |
OMIM:242700 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration |
ORPHA:284289 |
| Micro Syndrome |
|
Retinal coloboma, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoke... |
ORPHA:2510 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Cafe-au-lait spot, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration |
OMIM:250410 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal sen... |
ORPHA:88628 |
| Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:585 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration |
ORPHA:48818 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Optic atrophy, Pigmentary retinopathy, Decreased nerve conduction velocity |
OMIM:610651 |
| Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
| Nephronophthisis 11 |
|
Retinal degeneration |
OMIM:613550 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials... |
OMIM:601152 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:222300 |
| Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
| Krabbe Disease |
|
Optic atrophy, Abnormal flash visual evoked potentials, Decreased nerve conduction velocity |
OMIM:245200 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Retinal flecks, Retinal degeneration, Optic atrophy, Bull's eye maculopat... |
ORPHA:157850 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... |
OMIM:600903 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
OMIM:256600 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Hyperpigmentation of the s... |
OMIM:231550 |
| Multiple Sulfatase Deficiency |
|
Retinal degeneration |
OMIM:272200 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Retinal degeneration |
ORPHA:2822 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Optic atrophy, Chorioretinal dys... |
OMIM:216550 |
| Pseudoxanthoma Elasticum |
|
Optic disc drusen, Retinal peau d'orange, Choroidal neovascularization, Retinal hemorrhage, Angio... |
OMIM:264800 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Skin rash, Increased serum interferon-gamma level, Decreased circulating antibo... |
ORPHA:540 |
| Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
| Senior-Loken Syndrome 8 |
|
Macular atrophy |
OMIM:616307 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
| Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
| Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, Rod-cone dystrophy, Retinal degeneration, Retinal dystrophy |
OMIM:209900 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Neutropenia, Colitis, Cholangitis, A... |
OMIM:209920 |
| Autosomal Dominant Cerebellar Ataxia |
|
Macular degeneration, Pigmentary retinopathy, Retinal degeneration |
ORPHA:99 |
| Cone-Rod Dystrophy 6 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:601777 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Vitiligo, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:480898 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Retinal degeneration |
ORPHA:96179 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock |
ORPHA:742 |
| Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Decreased amplitude of sensory action potentials, Retinal pigment epitheli... |
OMIM:618733 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy |
OMIM:614866 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:220110 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:702 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy |
OMIM:214110 |
| Hardikar Syndrome |
|
Chorioretinal degeneration, Mottled pigmentation, Pigmentary retinopathy |
OMIM:612726 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
OMIM:609015 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy |
ORPHA:412057 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:436271 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormality of visual evoked potentials, Abno... |
ORPHA:52368 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, Macular coloboma, Undetectable visual e... |
ORPHA:423479 |
| Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Papilledema |
OMIM:309900 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduc... |
ORPHA:485421 |
| Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
| Friedreich Ataxia |
|
Decreased amplitude of sensory action potentials, Optic atrophy, Decreased sensory nerve conducti... |
OMIM:229300 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Pne... |
OMIM:613179 |
| Mannosidosis, Alpha B, Lysosomal |
|
Retinal degeneration |
OMIM:248500 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angioid streaks of the fundus, Macular degeneration, Retinal hemorrhage |
OMIM:177850 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:96180 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy |
OMIM:240300 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Hyperpigmentation of the skin, Pigmentary retinopathy, Retinal degeneration |
OMIM:234200 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Optic atrophy, Abnormality of visual evoked potentials |
OMIM:616875 |
| Hurler Syndrome |
|
Retinal degeneration |
OMIM:607014 |
| White-Sutton Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Rod-cone dystrophy |
OMIM:616364 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
| Cancer-Associated Retinopathy |
|
Vitritis, Retinal atrophy, Retinal pigment epithelial atrophy, Granular macular appearance, Fovea... |
ORPHA:71505 |
| Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Recurrent pneumonia, Inflammation of the large intestine, Decreased mean ... |
OMIM:301000 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Pigmentary retinopathy, Optic disc pallor |
ORPHA:502423 |
| Infantile Neuroaxonal Dystrophy |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of visual evoked potential... |
ORPHA:35069 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Enlarged flash visual evoked potentials, Retinal degeneration, Retinal dysplasia... |
OMIM:253280 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pigmentary retinopathy, Retinal degeneration, Abnormality of macular pigmentation, Macular colobo... |
ORPHA:79282 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous system physio... |
ORPHA:247234 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Abnormality ... |
ORPHA:79430 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... |
ORPHA:320401 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... |
OMIM:601455 |
| Cohen Syndrome |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Optic atrophy, Chorioretin... |
ORPHA:193 |
| Kniest Dysplasia |
|
Lattice retinal degeneration, Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Py... |
OMIM:258900 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Leukocytosis, Chr... |
ORPHA:3243 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
| Aicardi Syndrome |
|
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Op... |
ORPHA:50 |
| Classic Homocystinuria |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal detachment |
ORPHA:394 |
| Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:192 |
| Knobloch Syndrome |
|
Vitreoretinopathy, Abnormal vitreous humor morphology, Macular degeneration, Retinal detachment |
ORPHA:1571 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
| Immunodeficiency 58 |
|
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Decreas... |
OMIM:618131 |
| Gaucher Disease, Type I |
|
Macular atrophy, Hyperpigmentation of the skin |
OMIM:230800 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration |
OMIM:618479 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hypopigmente... |
ORPHA:206436 |
| Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy |
OMIM:203800 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
| Trichothiodystrophy |
|
Macular degeneration, Numerous pigmented freckles, Retinal degeneration |
ORPHA:33364 |
| Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Retinal degeneratio... |
ORPHA:580 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309256 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309263 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Splenomegaly |
OMIM:201100 |
| Werner Syndrome |
|
Abnormality of retinal pigmentation, White forelock, Premature graying of hair |
ORPHA:902 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Abnormality of t... |
ORPHA:2526 |
| Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Absent brainstem auditory responses, Abnormality of peripheral nerve cond... |
ORPHA:90321 |
| Cockayne Syndrome Type 3 |
|
Retinal atrophy, Premature graying of hair, Retinal degeneration, Retinal dystrophy, Abnormality ... |
ORPHA:90324 |
| Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Abnormal fundus morphology, Macular degeneration |
ORPHA:94147 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Optic atrophy |
OMIM:236670 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... |
ORPHA:101096 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clump... |
ORPHA:167 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Retinal degeneration |
ORPHA:581 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secretion, Incr... |
ORPHA:70578 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic disc pallor |
OMIM:214100 |
| Cockayne Syndrome A |
|
Abnormality of skin pigmentation, Pigmentary retinopathy, Retinal pigment epithelial mottling, Ab... |
OMIM:216400 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Retinal degeneratio... |
ORPHA:191 |
| Neurofibromatosis Type 1 |
|
Chorioretinal coloboma, Abnormality of retinal pigmentation, Freckling, Heterochromia iridis, Mel... |
ORPHA:636 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:1933 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal motor nerve conduction velocity, Abnormality of retinal pigmentation, Abnormality of per... |
ORPHA:466768 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, A... |
ORPHA:2556 |
| Acute Lung Injury |
|
Abnormality of serum cytokine level, Pneumonia, Abnormality of tumor necrosis factor secretion, I... |
ORPHA:178320 |
| Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy |
OMIM:618460 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:255210 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:505248 |
| Abetalipoproteinemia |
|
Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy |
ORPHA:14 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Pancy... |
OMIM:614576 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
| Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... |
ORPHA:309271 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy |
OMIM:309801 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... |
OMIM:618213 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
| Cockayne Syndrome B |
|
Abnormality of skin pigmentation, Pigmentary retinopathy, Abnormal auditory evoked potentials, De... |
OMIM:133540 |
| Melas |
|
Vitiligo, Optic atrophy, Pigmentary retinopathy |
ORPHA:550 |
| Farber Disease |
|
Cherry red spot of the macula, Macular degeneration |
ORPHA:333 |
| Alport Syndrome |
|
Macular degeneration, Retinal flecks |
ORPHA:63 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Aganglionic megacolon |
ORPHA:175 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinopath... |
OMIM:219800 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Chorioretinal degeneration, Choroideremia, Optic atrophy, Reti... |
ORPHA:1435 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... |
ORPHA:217085 |
| Hereditary Orotic Aciduria |
|
Impaired T cell function, Anemia, Splenomegaly |
ORPHA:30 |
| Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Hypopigmented skin patches |
ORPHA:3121 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormality of retinal pigmentation, Abnormal foveal morphology, Papilledema, Optic atrophy, Reti... |
ORPHA:217093 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Retinal atrophy |
ORPHA:97297 |
| Non-Specific Syndromic Intellectual Disability |
|
Retinal atrophy, Papilledema, Cafe-au-lait spot |
ORPHA:528084 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormality of visual evoked potentials, Decrease... |
ORPHA:206443 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG2... |
OMIM:242840 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Say-Barber-Miller Syndrome |
|
Optic atrophy, Macular degeneration, Rod-cone dystrophy |
|
