Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... |
ORPHA:170 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy, Astigmatism |
OMIM:268060 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
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 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
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 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia |
OMIM:300843 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy |
ORPHA:3156 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma |
ORPHA:168 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
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 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes |
OMIM:615877 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:1466 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege... |
ORPHA:816 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cataract |
OMIM:614307 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re... |
OMIM:617023 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology |
ORPHA:3019 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Low anterior hairline, T lymphocytopenia, Ectopia pupillae, Abnormal B cel... |
OMIM:618223 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Polycythemia, Albinism |
OMIM:600501 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... |
OMIM:615986 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:44 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Short Syndrome |
|
Alopecia, Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... |
ORPHA:3163 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con... |
OMIM:609033 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract |
ORPHA:3085 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity |
ORPHA:290 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:175780 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold |
OMIM:108145 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... |
ORPHA:573 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract |
OMIM:268020 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity |
ORPHA:578 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... |
ORPHA:2969 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Cln3 Disease |
|
Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Abnormal hair morphology, Chorioretinal hyperpigmentation, ... |
ORPHA:414 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Revesz Syndrome |
|
Aplastic anemia, Leukocoria, Fine hair, Nail dystrophy, Sparse hair, Megalocornea |
OMIM:268130 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Iris coloboma, Astigmatism, Corneal dystrophy |
OMIM:253250 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Abnor... |
ORPHA:1493 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Cataract, Alopecia totalis |
ORPHA:1366 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Highly arched eyebrow, Low posterior hairline, Ectopia pupillae... |
OMIM:194190 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Corneal opacity |
ORPHA:585 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract |
ORPHA:88628 |
Mowat-Wilson Syndrome |
|
Cataract, Supernumerary nipple, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris colob... |
OMIM:235730 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Nephronophthisis 11 |
|
Anisocoria, Anemia |
OMIM:613550 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Retinopathy |
ORPHA:773 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Astigmatism |
ORPHA:1824 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Leukonychia, Hypertrichosis |
ORPHA:2905 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Cataract |
OMIM:614105 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma |
ORPHA:2510 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Low posterior ... |
ORPHA:233 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... |
OMIM:613154 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy |
OMIM:613156 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair |
OMIM:257850 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Cataract, Optic atrophy |
OMIM:222300 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Cataract |
ORPHA:79095 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Livedoid Vasculopathy |
|
Leukocytosis, Pancytopenia, Polycythemia, Anemia |
ORPHA:542643 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Conj... |
OMIM:612843 |
Ifap Syndrome 2 |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair |
OMIM:619016 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Oc... |
OMIM:612582 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Cataract, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... |
OMIM:129500 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma |
OMIM:212550 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... |
OMIM:214110 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Fumarase Deficiency |
|
Conjunctival icterus, Polycythemia |
OMIM:606812 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Astigmatism, Cataract |
ORPHA:886 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Highly arched eyebrow, Asplenia, Abnormal pupil morphology, Microcornea, ... |
ORPHA:261552 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair |
ORPHA:1839 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Cataract |
ORPHA:45358 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Cataract |
OMIM:601811 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Iris hypop... |
ORPHA:2720 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cataract, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy,... |
OMIM:240300 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... |
OMIM:216550 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy |
ORPHA:394 |
Werner Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, White forelock, Cataract |
ORPHA:902 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea, Keratoconjunctivitis sicca, Sp... |
ORPHA:1806 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... |
OMIM:267750 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:192 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina... |
ORPHA:790 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Sparse axillary hair, Sparse pubic hair, Fine hair, Anisocoria, Developmental cataract,... |
OMIM:181270 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, High anterior hairline |
OMIM:615510 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Ogden Syndrome |
|
Sparse eyebrow, Fine hair, Iron deficiency anemia, Long eyelashes, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ... |
ORPHA:193 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Cataract, Sclerocornea |
OMIM:614230 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen... |
OMIM:194380 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock |
ORPHA:742 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy, Subcapsular cataract |
OMIM:203800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology,... |
ORPHA:534 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
ORPHA:2526 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... |
OMIM:612109 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia |
ORPHA:309854 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Anemia |
OMIM:226600 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Trichinellosis |
|
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology |
ORPHA:863 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula... |
OMIM:209900 |
Cahmr Syndrome |
|
Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
Cockayne Syndrome Type 1 |
|
Cataract, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy, Conjunctivitis |
ORPHA:90321 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Catar... |
ORPHA:191 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... |
ORPHA:157850 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corne... |
OMIM:214100 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Retinoblastoma |
|
Leukemia, Leukocoria |
OMIM:180200 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Trisomy 18 |
|
Microcornea, Abnormality of retinal pigmentation, Cataract, Iris coloboma |
ORPHA:3380 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma |
OMIM:309801 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Conjunctivitis, Nail dystrophy, Abnormality of neutrophil p... |
ORPHA:2968 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Opacifi... |
OMIM:614866 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:220110 |
Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Retinal pigment epithelial mottling |
OMIM:618733 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Supernumerary nipple, Highly arched eyebrow |
OMIM:618653 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Sclerocornea, Co... |
ORPHA:2556 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio... |
ORPHA:91500 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy... |
ORPHA:636 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Rod-cone dys... |
ORPHA:14 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Beckwith-Wiedemann Syndrome |
|
Splenomegaly, Choroideremia, Polycythemia |
ORPHA:116 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation, Cataract |
ORPHA:466768 |
Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Pigmentary retinopathy, Corneal scarring, Peters anomaly |
OMIM:618460 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria |
ORPHA:99949 |
Pituitary Apoplexy |
|
Normochromic anemia, Mydriasis |
ORPHA:95613 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Optic atrophy, Pigmentary retinopathy, Opacification of the corneal st... |
ORPHA:581 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia |
OMIM:269200 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Conjunctivitis, Optic atrophy |
ORPHA:505248 |
Alagille Syndrome 1 |
|
Posterior embryotoxon, Cataract, Band keratopathy, Chorioretinal atrophy, Microcornea, Pigmentary... |
OMIM:118450 |
Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:580 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling, Cataract |
OMIM:607459 |
Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Choriocapillaris atrophy, Polycythemia, Anemia |
OMIM:600376 |
Cockayne Syndrome A |
|
Retinal atrophy, Cataract, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of ski... |
OMIM:216400 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Cataract |
OMIM:272460 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret... |
ORPHA:79282 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
ORPHA:1556 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Corneal scarring, Pigmentary retinopat... |
ORPHA:404454 |
Mucopolysaccharidosis Type 2, Severe Form |
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Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217085 |
Cockayne Syndrome B |
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Optic atrophy, Developmental cataract, Abnormality of skin pigmentation, Pigmentary retinopathy, ... |
OMIM:133540 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217093 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Cataract |
OMIM:118650 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
Melas |
|
Pigmentary retinopathy, Optic atrophy, Vitiligo |
ORPHA:550 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation |
ORPHA:175 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive ... |
OMIM:251260 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Sympathetic Ophthalmia |
|
Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... |
ORPHA:79098 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:255210 |
Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... |
OMIM:219800 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Alternating Hemiplegia Of Childhood |
|
Thin eyebrow, Mydriasis |
ORPHA:2131 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... |
ORPHA:744 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Polycythemia, Anemia |
OMIM:187300 |
Pearson Syndrome |
|
Cataract, Corneal stromal edema, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of ... |
ORPHA:699 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Optic atrophy, Hyperpigmentation of the skin, Retinal degeneration |
OMIM:234200 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Developmental cataract, ... |
ORPHA:79474 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Scarring alopecia of scalp, Erythroid hyperplasi... |
ORPHA:79277 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Cataract, Fine hair, Anisocoria, High anterior hairline, Iris colo... |
OMIM:613406 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Cataract, Developmental cataract |
OMIM:606721 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia, Neutropenia |
ORPHA:93357 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... |
ORPHA:286 |
Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
Hardikar Syndrome |
|
Pigmentary retinopathy |
OMIM:301068 |
Scorpion Envenomation |
|
Mydriasis |
ORPHA:466677 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy |
ORPHA:3455 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Conjunctival ... |
ORPHA:447 |
Plague |
|
Splenomegaly, Conjunctival hyperemia, Mydriasis |
ORPHA:707 |