Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cleft palate, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor... |
ORPHA:90654 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Retinal... |
OMIM:616959 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... |
ORPHA:190 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... |
OMIM:613801 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology |
ORPHA:482 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... |
OMIM:305390 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
High palate, High, narrow palate, Hypochromic anemia, Microdontia, Widely spaced teeth, Cataract |
OMIM:257790 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... |
OMIM:193230 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Neutropenia, ... |
OMIM:180080 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Cataract 21, Multiple Types |
|
Retinal detachment, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po... |
OMIM:224120 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Bilateral cleft lip an... |
ORPHA:1473 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... |
ORPHA:79493 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Gingival bleeding, Anemia, Abnor... |
ORPHA:98870 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Attenuation of retinal blood vessels, Cataract |
OMIM:613826 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology |
ORPHA:314652 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... |
ORPHA:2791 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... |
OMIM:251270 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Retinal detachment, Bifid uvula, Cataract, Abnormal vitreous h... |
OMIM:604841 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Supernumerary tooth, Abnormality of the dentition, Oligodont... |
ORPHA:1264 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Retinopathy, Cataract |
OMIM:183800 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Leber Congenital Amaurosis 1 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... |
OMIM:204000 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Wide mouth |
OMIM:604273 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Narrow mouth, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... |
OMIM:312600 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Retinal detachment, Long philtrum, Microcornea, Astigmatism,... |
OMIM:152950 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... |
ORPHA:231226 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Cryptorchidism, Cataract, Rod-cone dystrophy |
OMIM:601794 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cataract, Cleft palate |
OMIM:120433 |
Autosomal Recessive Stickler Syndrome |
|
Cleft palate, Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract |
ORPHA:250984 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Eosinophilia, Xerostomia, Abnormal salivary gland mor... |
ORPHA:449432 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Kahrizi Syndrome |
|
Iris coloboma, Cataract, Thick lower lip vermilion |
OMIM:612713 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Cryptorchidism, Cataract, Rod-cone dystrophy |
ORPHA:363741 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlarged... |
ORPHA:79078 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Retinal dystrophy |
OMIM:613763 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal posterior eye segment morphology, Abnormal corn... |
ORPHA:67043 |
Stickler Syndrome Type 1 |
|
Cleft palate, Retinal detachment, Long philtrum, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology |
ORPHA:65 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Al Amyloidosis |
|
Macroglossia, Xerostomia, Abnormal salivary gland morphology, Anemia, Howell-Jolly bodies |
ORPHA:85443 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... |
OMIM:613581 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Blau Syndrome |
|
Keratitis, Abnormal retinal vascular morphology, Splenomegaly, Retinopathy, Xerostomia, Abnormal ... |
ORPHA:90340 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Aplasia/Hypoplasia of the lens, Cataract, Abnormal palate morphology, Cryptorchidism |
ORPHA:1381 |
Nance-Horan Syndrome |
|
Supernumerary tooth, Abnormality of the dentition, Retinal detachment, Microcornea, Cataract |
ORPHA:627 |
Gyrate Atrophy Of Choroid And Retina |
|
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... |
ORPHA:414 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... |
ORPHA:2712 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy |
OMIM:263100 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Short mandibular rami, Retinal coloboma, Morning glory anomaly, ... |
OMIM:612109 |
Lacrimoauriculodentodigital Syndrome |
|
Corneal ulceration, Hypodontia, Corneal neovascularization, Abnormality of the dentition, Xerosto... |
ORPHA:2363 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract, Retinal atrophy |
OMIM:616722 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Epiretinal membrane, Vitr... |
ORPHA:279914 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Enhanced S-Cone Syndrome |
|
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis |
OMIM:268100 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Short philtrum, Retinal neovascularization, Cleft palate |
OMIM:619074 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... |
OMIM:615986 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Cryptorchidism, Sclerocorne... |
ORPHA:139471 |
Melioidosis |
|
Splenic abscess, Abnormality of the spleen, Parotitis, Abnormal parotid gland morphology |
ORPHA:31202 |
Aniridia 1 |
|
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... |
OMIM:106210 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Woolly Hair |
|
Abnormal retinal morphology, Abnormal pupil morphology, Cataract |
ORPHA:170 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Nodular ... |
ORPHA:64744 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... |
OMIM:300578 |
Insulin-Resistance Syndrome Type B |
|
Enlarged polycystic ovaries, Leukopenia, Abnormal salivary gland morphology, Enlarged ovaries, Po... |
ORPHA:2298 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology |
ORPHA:252164 |
Idiopathic Panuveitis |
|
Cystoid macular edema, Epiretinal membrane, Vitreous floaters, Choroidal neovascularization, Cata... |
ORPHA:280921 |
Congenital Erythropoietic Porphyria |
|
Corneal ulceration, Erythrodontia, Splenomegaly, Anisocytosis, Leukopenia, Keratoconjunctivitis, ... |
ORPHA:79277 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Salivary gland neoplasm, Neoplasm of the stomach, Colon cancer |
ORPHA:587 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Splenomegaly, Inflammation of the large intestine, Chorioretinitis, Abnormal sa... |
OMIM:181000 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy... |
OMIM:222300 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sialadenitis, Orchitis, Eosinophilia, Colon cancer, Enlarged lacrimal glands, Abnormal... |
ORPHA:449563 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Ectopic posterior pituitary... |
OMIM:610125 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria |
OMIM:619649 |
Proximal Myotonic Myopathy |
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Cataract |
ORPHA:606 |
Stromme Syndrome |
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Wide mouth, Duodenal atresia, Cleft palate, Intestinal malrotation, Optic nerve hypoplasia, Acces... |
OMIM:243605 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Corneal scarring, Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous... |
OMIM:226600 |
Congenital Tufting Enteropathy |
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Anal atresia, Malabsorption, Abnormal large intestinal mucosa morphology, Steatorrhea, Optic disc... |
ORPHA:92050 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Cleft upper lip, Anal atresia, Decreased response to growth hormone stimulation test, Cleft palat... |
OMIM:129900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Cleft upper lip, Decreased response to growth hormone stimulation test, Cleft palate, Blue irides... |
OMIM:604292 |
Cataract 5, Multiple Types |
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Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Treacher Collins Syndrome 1 |
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Wide mouth, Narrow mouth, Cleft palate, Cryptorchidism, Abnormal parotid gland morphology, Cleft ... |
OMIM:154500 |
Proteus-Like Syndrome |
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Abnormal pupil morphology, Open bite, Splenomegaly, Retinal detachment, Abnormality of the parath... |
ORPHA:2969 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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High palate, Ocular albinism, Hypochromic anemia, Abnormality of neutrophils, Iris hypopigmentati... |
ORPHA:2720 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Dental malocclusion, Persistence of primary teeth, Ectopia pupillae, Oligodontia, Microdontia, As... |
OMIM:618727 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Abnormal retinal vascular morphology, Macular edema, Normocytic anemia, Retinal neovascularizatio... |
ORPHA:247691 |
Lacrimoauriculodentodigital Syndrome |
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Corneal perforation, Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Xerostomi... |
OMIM:149730 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rod-cone dystrophy, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmentation of the ... |
OMIM:268315 |
Incontinentia Pigmenti |
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Keratitis, Hypodontia, Leukocytosis, Retinal vascular proliferation, Supernumerary nipple, Eosino... |
OMIM:308300 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, Retinal detachment, C... |
ORPHA:2714 |
Pierson Syndrome |
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Remnants of the hyaloid vascular system, Retinal detachment, Uveal ectropion, Retinal hemorrhage,... |
OMIM:609049 |
Igg4-Related Kidney Disease |
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Abnormality of the anterior pituitary, Eosinophilia, Sialadenitis |
ORPHA:449395 |
Darier-White Disease |
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Enlargement of parotid gland |
OMIM:124200 |
Knobloch Syndrome |
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Macular degeneration, Retinal detachment, Vitreoretinopathy, Pyloric stenosis, Cataract, Abnormal... |
ORPHA:1571 |
Sarcoidosis |
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Eosinophilia, Leukopenia, Keratoconjunctivitis sicca, Hemolytic anemia, Abnormal conjunctiva morp... |
ORPHA:797 |
Kikuchi-Fujimoto Disease |
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Lymphocytosis, Splenomegaly, Leukopenia, Enlargement of parotid gland, Oral ulcer, Neutropenia, A... |
ORPHA:50918 |
Neurofibroma |
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Intestinal bleeding, Multiple intestinal neurofibromatosis, Enlargement of parotid gland |
ORPHA:252183 |
Salivary Duct Calculi |
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Parotitis |
OMIM:181010 |