Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Chorioretinal coloboma, Cataract |
OMIM:274205 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epithelial at... |
OMIM:616959 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Stickler Syndrome Type 2 |
|
Cleft palate, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, ... |
ORPHA:90654 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
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 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... |
ORPHA:411527 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Widely spaced teeth, High, narrow palate, High palate, Microdontia, Hypochromic anemia, Cataract |
OMIM:257790 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Gingival bleeding, Anemia, Anisocytosis, Poikilocytosis, Abnor... |
ORPHA:98870 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract |
OMIM:610156 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Retinal Venous Beading |
|
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjun... |
OMIM:180080 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... |
OMIM:212550 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Thick upper lip vermilion, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iri... |
ORPHA:1473 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... |
ORPHA:79493 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea |
OMIM:616171 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Vitreoretinochoroidopathy |
|
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... |
OMIM:193220 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... |
OMIM:611040 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Intestinal perforation, Abnormality of the tongue |
ORPHA:314652 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Cataract |
OMIM:204200 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Otodental Syndrome |
|
Carious teeth, Lens coloboma, Pulp calcification, Retinal coloboma, Long philtrum, Odontoma, Abno... |
ORPHA:2791 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
Orotic Aciduria |
|
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... |
OMIM:258900 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... |
OMIM:310600 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... |
OMIM:618849 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Rod-cone dystrophy |
OMIM:619082 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Pierre-Robin sequence, Bifid uvula, Abnormal vitreous humor mo... |
OMIM:604841 |
Oslam Syndrome |
|
Carious teeth, Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Chorioretinal coloboma, Cataract |
ORPHA:2489 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hyp... |
ORPHA:231226 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Abnormality of the dentition, Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Cataract, Retinal dysplasia |
OMIM:613154 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Oligodontia, Juvenile cataract, Supernumerary tooth, Abnorma... |
ORPHA:1264 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Cleft upper lip, Bifid uvula,... |
OMIM:612561 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Narrow mouth, Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Thick lower lip vermilion, Optic atrophy, Retinal fold, Long philtrum, Myopic astigmatism, Chorio... |
OMIM:152950 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Xerostomia, Abnormal pancreas morphology, Abnormality of the ... |
ORPHA:449432 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Abnormality of the optic nerve, Abnormal salivary gland morphology, O... |
ORPHA:79078 |
Autosomal Recessive Stickler Syndrome |
|
Cleft palate, Vitreoretinopathy, Retinal detachment, Cataract, Astigmatism |
ORPHA:250984 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... |
OMIM:618613 |
Isolated Aniridia |
|
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cleft upper lip, Cleft palate, Cataract |
OMIM:120433 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Abnormality of the optic nerve, Retrobulbar optic neuritis, X... |
ORPHA:90340 |
Kahrizi Syndrome |
|
Thick lower lip vermilion, Cataract, Iris coloboma |
OMIM:612713 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Macroglossia, Xerostomia, Anemia, Howell-Jolly bodies |
ORPHA:85443 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... |
ORPHA:67043 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency |
ORPHA:3156 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract |
ORPHA:171844 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Thick vermilion border, Iris coloboma |
ORPHA:171860 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, High palate, Increased mean corpuscular volume, Wide mouth, Long philtrum, Optic... |
ORPHA:261250 |
Stickler Syndrome Type 1 |
|
Cleft palate, Long philtrum, Abnormal vitreous humor morphology, Retinal detachment, Cataract |
ORPHA:90653 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract |
ORPHA:65 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Abnorma... |
ORPHA:791 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis sicca, Carious teeth, Abnormal salivary gland morphology, Hypodontia, Lacrim... |
ORPHA:2363 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Cornea... |
ORPHA:290 |
Nance-Horan Syndrome |
|
Supernumerary tooth, Retinal detachment, Cataract, Abnormality of the dentition, Microcornea |
ORPHA:627 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Abnormal palate morphology, Aplasia/Hypoplasia of the lens, Anal atresia, Cataract, Cryptorchidism |
ORPHA:1381 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... |
ORPHA:414 |
Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Cleft palate, Oligodontia, Ectopia lentis, Long philtrum, Solitary me... |
ORPHA:2712 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... |
OMIM:612109 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Srd5A3-Cdg |
|
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Microcytic anemia, Cataract, Decreased ... |
ORPHA:324737 |
Melioidosis |
|
Abnormal parotid gland morphology, Abnormality of the spleen, Splenic abscess, Parotitis |
ORPHA:31202 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract |
OMIM:263100 |
Intermediate Uveitis |
|
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Cystoid macular edema, Epir... |
ORPHA:279914 |
Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Lens subluxation, Abnormal vitreous humor morphology, Retinal detachment, ... |
ORPHA:93296 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... |
OMIM:615986 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Cleft palate, Short philtrum |
OMIM:619074 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... |
ORPHA:124 |
Congenital Erythropoietic Porphyria |
|
Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Erythrodontia, Poikilocytosis, Cor... |
ORPHA:79277 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Leukopenia, Enlarged ovaries, Polycystic ovaries, Thrombocyto... |
ORPHA:2298 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Cr... |
ORPHA:139471 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Optic neuropathy, Inflammation of the large intestine, Chorio... |
OMIM:181000 |
Igg4-Related Thyroid Disease |
|
Goiter, Nodular goiter, Abnormality of the pituitary gland, Euthyroid goiter, Sialadenitis, Pancr... |
ORPHA:64744 |
Aniridia 1 |
|
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... |
OMIM:106210 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... |
OMIM:221900 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... |
ORPHA:91495 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Benign Schwannoma |
|
Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esophagus morphology |
ORPHA:252164 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the optic nerve, Abnormality of the anterior pituitary, Enlarged lacrimal glands, ... |
ORPHA:449563 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Salivary gland neoplasm, Neoplasm of the stomach, Colon cancer |
ORPHA:587 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Neutropenia, Pancreatic hypoplasia, Leukemia, Delayed eruption of teeth, Steatorrh... |
ORPHA:811 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... |
ORPHA:280921 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Ocular albinism, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormality of... |
ORPHA:2720 |
Walker-Warburg Syndrome |
|
Abnormality of the optic nerve, Optic atrophy, Cleft palate, Retinal dysplasia, Retinal dystrophy... |
ORPHA:899 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Neutropenia, Increased mean corpuscular volume, Esophagitis |
OMIM:612562 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Corneal scarring, Spontaneous esophageal perforation, Anemia, Enamel hypoplasia, Esophageal stric... |
OMIM:226600 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Stromme Syndrome |
|
Cleft palate, Duodenal atresia, Wide mouth, Sclerocornea, Optic nerve hypoplasia, Peters anomaly,... |
OMIM:243605 |
Congenital Sialidosis Type 2 |
|
Optic atrophy, Developmental cataract, Hypoplasia of the fovea, Cherry red spot of the macula, Gi... |
ORPHA:93400 |
Papillorenal Syndrome |
|
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... |
OMIM:120330 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Ectopic posterior pituitary, C... |
OMIM:610125 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Macular edema, Abnormal retinal vascular morphology, Reti... |
ORPHA:247691 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Blue irides, Carious teeth, Absence of Stensen duct, Cleft palate, Hypoplastic nipples, Microdont... |
OMIM:604292 |
Proteus-Like Syndrome |
|
Limbal dermoid, Thymus hyperplasia, Open bite, Polycystic ovaries, Splenomegaly, Heterochromia ir... |
ORPHA:2969 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Blue irides, Carious teeth, Absence of Stensen duct, Cleft palate, Hypoplastic nipples, Microdont... |
OMIM:129900 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Dystonia, Juvenile-Onset |
|
Cleft upper lip, Cleft palate, Cataract |
OMIM:607371 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Macroglossia, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia |
ORPHA:309288 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Corneal erosion, Malabsorption, Punctate keratitis, Optic disc coloboma, Abnorma... |
ORPHA:92050 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Treacher Collins Syndrome 1 |
|
Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Narrow mouth, Cry... |
OMIM:154500 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Microdontia, Oligodontia, Conical tooth, Persistence of primary teeth, Enamel hypo... |
OMIM:618727 |
Incontinentia Pigmenti |
|
Optic atrophy, Leukocytosis, Hypodontia, Hypoplastic nipples, Hypoplasia of the fovea, Retinal va... |
OMIM:308300 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormal palate morphology, Microdontia, Choroideremia, Ocular albinism, Anemia, Corneal opacity,... |
ORPHA:2719 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Smooth philtrum, Splenomegaly, Corneal opacit... |
ORPHA:585 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Anemia, Malabsorption, Cataract, Glossitis, Hamartomatous polyposis, Protein-losing e... |
OMIM:175500 |
Lacrimoauriculodentodigital Syndrome |
|
Carious teeth, Corneal perforation, Hypodontia, Lacrimal gland aplasia, Conical incisor, Aplasia ... |
OMIM:149730 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Asplenia, Cholelithiasis, Malabsorption, Enamel hypoplasia, Cataract, Prematu... |
OMIM:240300 |
Salivary Duct Calculi |
|
Abnormality of the mouth, Parotitis |
OMIM:181010 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Iris coloboma, Anal atresia, Narrow mouth, Cataract, Crypto... |
ORPHA:3301 |
Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Cleft palate, Retinal detachment, Cataract, Remnants of the hyaloid vascular... |
ORPHA:2714 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Eosinophilia, Abnormality of the anterior pituitary |
ORPHA:449395 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, High palate, Long philtrum, ... |
OMIM:607330 |
Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Enlargement of parotid gland, Oral ... |
ORPHA:50918 |
Sarcoidosis |
|
Keratoconjunctivitis sicca, Leukopenia, Increased T cell count, Anemia, Parotitis, Enlargement of... |
ORPHA:797 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Knobloch Syndrome |
|
Pyloric stenosis, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Abnormal vitreous humo... |
ORPHA:1571 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Steatorrhea, Cataract, Band keratopathy, Keratoconjunctivitis |
OMIM:269200 |
Meckel Syndrome |
|
Optic atrophy, Cleft palate, Pancreatic cysts, Asplenia, Sclerocornea, Aplasia/Hypoplasia of the ... |
ORPHA:564 |
Dyskeratosis Congenita, X-Linked |
|
Carious teeth, Optic atrophy, Premature loss of teeth, Leukopenia, Anemia, Acute myeloid leukemia... |
OMIM:305000 |
Neurofibroma |
|
Enlargement of parotid gland, Intestinal bleeding, Multiple intestinal neurofibromatosis |
ORPHA:252183 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Choroidal neovascular... |
ORPHA:91500 |
Norrie Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... |
ORPHA:649 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |