Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma, Cryptorchidism |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Cleft palate, Abnormal vitreous humor... |
ORPHA:90654 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Epiretinal membrane,... |
OMIM:616959 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Dental malocclusion, Rod-cone dystrophy, Widely spaced teeth,... |
OMIM:616108 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cataract, Iris coloboma, Chorioretinal coloboma, Cleft palate |
OMIM:120433 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Pierre-Robin sequence, Vitreoretinopathy |
OMIM:614284 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Gingival bleeding, Increas... |
ORPHA:98870 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology |
ORPHA:314652 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Eales Disease |
|
Iris neovascularization, Vitreous hemorrhage, Macular edema, Vitreous haze, Vitritis, Tractional ... |
ORPHA:40923 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... |
OMIM:251270 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Stickler Syndrome, Type Ii |
|
Pierre-Robin sequence, Bifid uvula, Cataract, Retinal detachment, Cleft palate, Abnormal vitreous... |
OMIM:604841 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma, Cryptorchidism |
ORPHA:2489 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204000 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of retinal pigmentation, Juvenile cataract, Abnorma... |
ORPHA:1264 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Wide mouth |
OMIM:604273 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Narrow mouth, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Hypopituitarism, Decreased mean corpuscular hemoglobin conce... |
ORPHA:231226 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract |
OMIM:610156 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Cryptorchidism, Retinal coloboma |
OMIM:601794 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Long philtrum, Optic atrophy, Deep philtrum, Thick lower lip vermilion, Microcornea... |
OMIM:152950 |
Autosomal Recessive Stickler Syndrome |
|
Vitreoretinopathy, Astigmatism, Cataract, Retinal detachment, Cleft palate |
ORPHA:250984 |
Igg4-Related Submandibular Gland Disease |
|
Sialadenitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Xerost... |
ORPHA:449432 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Cryptorchidism, Retinal coloboma |
ORPHA:363741 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Nodular goiter, Keratoconjunctivitis sicca, Abnormality of the submandib... |
ORPHA:79078 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Stickler Syndrome Type 1 |
|
Long philtrum, Cataract, Retinal detachment, Cleft palate, Abnormal vitreous humor morphology |
ORPHA:90653 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Macroglossia, Abnormal salivary gland morphology, Xerostomia |
ORPHA:85443 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Blau Syndrome |
|
Anemia, Retinopathy, Abnormal choroid morphology, Cataract, Retrobulbar optic neuritis, Abnormal ... |
ORPHA:90340 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... |
ORPHA:414 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Abnormal palate morphology, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Nance-Horan Syndrome |
|
Supernumerary tooth, Microcornea, Cataract, Retinal detachment, Abnormality of the dentition |
ORPHA:627 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa... |
ORPHA:2712 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Lacrimoauriculodentodigital Syndrome |
|
Enamel hypoplasia, Keratoconjunctivitis, Abnormality of the dentition, Microdontia, Limbal stem c... |
ORPHA:2363 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... |
ORPHA:279914 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Enhanced S-Cone Syndrome |
|
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Cry... |
ORPHA:139471 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Cleft palate, Short philtrum |
OMIM:619074 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... |
OMIM:106210 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
Melioidosis |
|
Abnormality of the spleen, Parotitis, Splenic abscess, Abnormal parotid gland morphology |
ORPHA:31202 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... |
OMIM:300578 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... |
ORPHA:91495 |
Cataract 16, Multiple Types |
|
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Sialadenitis, Euthyroid goiter, Abnormality of the pituitary... |
ORPHA:64744 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary gland morphology, ... |
ORPHA:2298 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Hemolytic anemia, Keratoconjunctivitis, Erythroid hyperplasia, Reticulocytosis, Poiki... |
ORPHA:79277 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Testicular atrophy, Cataract, Thromboc... |
OMIM:222300 |
Muir-Torre Syndrome |
|
Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum |
ORPHA:587 |
Sarcoidosis, Susceptibility To, 1 |
|
Chorioretinitis, Pancytopenia, Inflammation of the large intestine, Abnormal salivary gland morph... |
OMIM:181000 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Sialadenitis, Enlarged lacrimal glands, Colon cancer, Eosi... |
ORPHA:449563 |
Microphthalmia, Syndromic 5 |
|
Retinal dystrophy, Optic nerve hypoplasia, Ectopic posterior pituitary, Microcornea, Cataract, Cr... |
OMIM:610125 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Enamel hypoplasia, Anemia, Esophageal stricture, Corneal scarring, Cataract, Narr... |
OMIM:226600 |
Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, In... |
OMIM:243605 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,... |
OMIM:129900 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,... |
OMIM:604292 |
Congenital Tufting Enteropathy |
|
Corneal erosion, Abnormal large intestinal mucosa morphology, Villous atrophy, Malabsorption, Pun... |
ORPHA:92050 |
Proteus-Like Syndrome |
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Abnormal pupil morphology, Splenomegaly, Limbal dermoid, Cataract, Heterochromia iridis, Polycyst... |
ORPHA:2969 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cryptorchidism, C... |
OMIM:154500 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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High palate, Ocular albinism, Iris hypopigmentation, Abnormality of neutrophils, Cataract, Hypoch... |
ORPHA:2720 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Conical tooth, Dental malocclusion, Enamel hypoplasia, Optic atrophy, Microdontia, Oligodontia, A... |
OMIM:618727 |
Cataract 20, Multiple Types |
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Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Macular edema, Normocytic anemia, Retinal cotton wool spot, Retinal neovascularization, Normochro... |
ORPHA:247691 |
Incontinentia Pigmenti |
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Conical tooth, Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Delayed eruptio... |
OMIM:308300 |
Lacrimoauriculodentodigital Syndrome 1 |
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Conjunctivitis, Enamel hypoplasia, Delayed eruption of primary teeth, Microdontia, Limbal stem ce... |
OMIM:149730 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... |
OMIM:268315 |
Benign Schwannoma |
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Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology |
ORPHA:252164 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Oculo-Palato-Cerebral Syndrome |
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Leukocoria, Remnants of the hyaloid vascular system, Cataract, Retinal detachment, Cleft palate, ... |
ORPHA:2714 |
Pierson Syndrome |
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Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Darier-White Disease |
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Enlargement of parotid gland |
OMIM:124200 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Dental malocclusion, Phakodonesis, High palate, Anterior synechiae of the anterior chamber, Bifid... |
OMIM:601552 |
Knobloch Syndrome |
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Macular degeneration, Pyloric stenosis, Vitreoretinopathy, Ectopia lentis, Cataract, Retinal deta... |
ORPHA:1571 |
Sarcoidosis |
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Leukopenia, Abnormal conjunctiva morphology, Anemia, Hemolytic anemia, Keratoconjunctivitis sicca... |
ORPHA:797 |
Kikuchi-Fujimoto Disease |
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Leukopenia, Oral ulcer, Anemia, Neutropenia, Lymphocytosis, Thrombocytopenia, Enlargement of paro... |
ORPHA:50918 |
Igg4-Related Kidney Disease |
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Abnormality of the anterior pituitary, Eosinophilia, Sialadenitis |
ORPHA:449395 |
Neurofibroma |
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Multiple intestinal neurofibromatosis, Intestinal bleeding, Enlargement of parotid gland |
ORPHA:252183 |