Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinal Degeneration And Epilepsy |
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Retinal degeneration |
OMIM:267740 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Retinal dysplasia |
OMIM:615041 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Central Retinal Vein Occlusion |
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Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Macular Degeneration, Age-Related, 1 |
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Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 32 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Eales Disease |
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Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Hemoglobin H Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Senior-Loken Syndrome 7 |
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Retinal degeneration |
OMIM:613615 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Vitreoretinochoroidopathy |
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Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Myopia 25, Autosomal Dominant |
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Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
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Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
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Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
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Retinal detachment |
OMIM:608474 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia |
OMIM:614979 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Attrv30M Amyloidosis |
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Cardiomyopathy, Cardiomegaly, Vitreous floaters |
ORPHA:85447 |
Sickle Cell Disease |
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Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis |
OMIM:207750 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... |
ORPHA:247691 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Pierson Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Atelis Syndrome 2 |
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Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrh... |
OMIM:620185 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Ventricular septal defect, Dextrocar... |
OMIM:300166 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ... |
OMIM:157170 |
Norrie Disease |
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Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Patent foramen o... |
OMIM:619539 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice |
OMIM:231680 |