Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
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, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Exudative Vitreoretinopathy 3 |
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Retinal exudate, Retinal detachment, 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 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Retinal dysplasia |
OMIM:615041 |
Retinoschisis 1, X-Linked, Juvenile |
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Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
Central Retinal Vein Occlusion |
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Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Exudative Vitreoretinopathy 2, X-Linked |
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Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Exudative Vitreoretinopathy 1 |
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Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
Vitreoretinopathy, Neovascular Inflammatory |
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Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
Familial Exudative Vitreoretinopathy |
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Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
Familial Drusen |
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Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... |
ORPHA:231736 |
Birdshot Chorioretinopathy |
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Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... |
ORPHA:179 |
Macular Degeneration, Age-Related, 1 |
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Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
Retinitis Pigmentosa 70 |
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Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Retinitis Pigmentosa 32 |
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Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Retinitis Pigmentosa 50 |
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Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
Retinitis Pigmentosa 13 |
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Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Retinal Dystrophy And Obesity |
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Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... |
OMIM:616188 |
Eales Disease |
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Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... |
ORPHA:40923 |
Hemoglobin H Disease |
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HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
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, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Vitreoretinal Degeneration, Snowflake Type |
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Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Cardiomyopathy, Dilated, 1I |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Vitreoretinochoroidopathy |
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Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... |
OMIM:193220 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Coloboma Of Optic Nerve |
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Optic disc coloboma, Retinal detachment |
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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Pancytopenia, Splenomegaly, Cone/cone-rod dystrophy |
OMIM:614979 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Optic disc coloboma, Remnants... |
OMIM:120200 |
Attrv30M Amyloidosis |
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Vitreous floaters, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Sickle Cell Disease |
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Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Cholelithiasis, Hepat... |
OMIM:603903 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Erythrocytosis, Familial, 8 |
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Increased hemoglobin, Increased hematocrit, Splenomegaly, Polycythemia |
OMIM:222800 |
Spherocytosis, Type 5 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Apolipoprotein C-Ii Deficiency |
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Pancreatitis, Hepatomegaly, Splenomegaly, Lipemia retinalis |
OMIM:207750 |
Persistent Hyperplastic Primary Vitreous |
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Tractional retinal detachment, Remnants of the hyaloid vascular system, Retinal fold, Glial remna... |
ORPHA:91495 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Abnormality of the hepatic vasculature, Normocytic anemia, Abnormal retinal vascular morphology, ... |
ORPHA:247691 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Cryohydrocytosis |
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Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Retinal fold, Retinal nonattachment, Iris coloboma |
OMIM:221900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal dysplasia, Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypop... |
OMIM:614643 |
Pierson Syndrome |
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Retinal vascular tortuosity, Hypopigmentation of the fundus, Retinal detachment, Posterior lentic... |
OMIM:609049 |
Congenital Tricuspid Valve Dysplasia |
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Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Splenomegaly, Pancytopenia, Cardiomegaly, Mitral stenos... |
OMIM:231005 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
Atelis Syndrome 2 |
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Pulmonic stenosis, Anemia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Thrombocytopenia,... |
OMIM:620185 |
Full Nf2-Related Schwannomatosis |
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Abnormal optic nerve morphology, Epiretinal membrane, Retinal hamartoma, Remnants of the hyaloid ... |
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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Dextrocardia, Iris coloboma, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, ... |
OMIM:300166 |
Holoprosencephaly 2 |
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Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Single ... |
OMIM:157170 |
Norrie Disease |
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Abnormal retinal vascular morphology, Retinal detachment, Abnormal vitreous humor morphology, Rem... |
ORPHA:649 |
Neuroocular Syndrome |
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Lens coloboma, Hypoplasia of the fovea, Iris coloboma, Patent foramen ovale, Remnants of the hyal... |
OMIM:619539 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Jaundice, Hepatomegaly, Hepatic steatosis, Hepatic periportal necrosis |
OMIM:231680 |