Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Conjunctivitis |
ORPHA:26137 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... |
ORPHA:98960 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion |
OMIM:608470 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Familial pterygium of the conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Granular Corneal Dystrophy Type Ii |
|
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... |
ORPHA:98963 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma, Normochromic anemia, Hemolytic anemia |
OMIM:245900 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... |
OMIM:604229 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Congenital Rubella Syndrome |
|
Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Thrombocytopenia |
ORPHA:290 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Brittle Cornea Syndrome 2 |
|
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus |
OMIM:614170 |
Fish-Eye Disease |
|
Corneal opacity, Splenomegaly |
ORPHA:79292 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Acute myeloid leukemia |
ORPHA:98827 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
Sialidosis Type 2 |
|
Corneal opacity, Splenomegaly |
ORPHA:87876 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Splenomegaly |
ORPHA:93476 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Opacification of the corneal stroma |
OMIM:215250 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis |
OMIM:617718 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Cataract |
ORPHA:317 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia |
OMIM:258360 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization |
ORPHA:163934 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia |
ORPHA:86843 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea |
OMIM:152950 |
Alpha-Mannosidosis |
|
Corneal opacity, Cataract, Splenomegaly |
ORPHA:61 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Aplasia/Hypoplasia of the iris |
ORPHA:137902 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Cataract |
OMIM:613153 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Corneal opacity, Axillary pterygium, Antecubital pterygium |
OMIM:619339 |
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation |
|
Opacification of the corneal stroma |
OMIM:204850 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Hepatosplenomegaly, Corneal opacity, Cataract |
ORPHA:309288 |
Microphthalmia, Isolated 3 |
|
Sclerocornea |
OMIM:611038 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium |
OMIM:270200 |
Short Syndrome |
|
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... |
ORPHA:3163 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Neurotrophic Keratopathy |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... |
ORPHA:137596 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Opacification of the corneal stroma, Neutropenia, Anemia, Astigmatism... |
OMIM:242900 |
Sialidosis Type 1 |
|
Corneal opacity, Cataract, Splenomegaly |
ORPHA:812 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Anemia, Corneal opacity, Lymphopenia, Thr... |
ORPHA:1830 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Mietens Syndrome |
|
Sclerocornea, Microcornea, Corneal opacity, Cataract |
ORPHA:2557 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Splenomegaly |
OMIM:607015 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Cutis Laxa, Autosomal Dominant 3 |
|
Developmental cataract, Corneal opacity |
OMIM:616603 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Conjunctivitis |
OMIM:602562 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Scheie Syndrome |
|
Corneal opacity, Splenomegaly |
ORPHA:93474 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Corneal opacity, Developmental glaucoma |
ORPHA:1064 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Thrombocytopenia, Corneal opacity, Astigmatism, Leukopenia |
OMIM:301056 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea |
ORPHA:1806 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, Cataract |
ORPHA:1867 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Microcornea, Cataract, Ectopia pupillae |
OMIM:615877 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Corneal opacity, Cataract |
ORPHA:2399 |
Juvenile Sialidosis Type 2 |
|
Hepatosplenomegaly, Corneal opacity, Cataract |
ORPHA:93399 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Cataract |
ORPHA:496790 |
Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Corneal opacity, Cataract, Developmental cataract |
ORPHA:93400 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Corneal neovas... |
OMIM:158310 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal scarring, Corneal ulceration |
OMIM:616488 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Cataract, Splenomegaly |
ORPHA:585 |
Galactosialidosis |
|
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia |
OMIM:256540 |
Wilson Disease |
|
Thrombocytopenia, Kayser-Fleischer ring, Anemia, Splenomegaly |
ORPHA:905 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Opacification of the corneal stroma |
OMIM:614230 |
Microphthalmia With Brain And Digit Anomalies |
|
Sclerocornea, Microcornea, Cataract, Iris coloboma |
ORPHA:139471 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Anemia, Corneal opacity, Cataract, Iris hypopigmentation |
ORPHA:2719 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen |
ORPHA:79456 |
Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Opacification of the corneal stroma, Cataract, Splenomegaly |
OMIM:251290 |
Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... |
ORPHA:96125 |
Zellweger Syndrome |
|
Corneal opacity, Brushfield spots, Cataract, Posterior embryotoxon |
ORPHA:912 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Corneal opacity, Megalocornea |
ORPHA:2409 |
Farber Disease |
|
Opacification of the corneal stroma, Anemia, Hepatosplenomegaly, Corneal opacity, Abnormal conjun... |
ORPHA:333 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Corneal ulceration, Opacification of the corneal stroma, Recurrent c... |
OMIM:256800 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... |
ORPHA:2442 |
Walker-Warburg Syndrome |
|
Microcornea, Corneal opacity, Cataract, Iris coloboma |
ORPHA:899 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Hurler Syndrome |
|
Opacification of the corneal stroma, Hepatosplenomegaly, Corneal opacity, Splenomegaly |
OMIM:607014 |
8Q21.11 Microdeletion Syndrome |
|
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation |
ORPHA:284160 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Splenomegaly |
ORPHA:584 |
Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Corneal opacity, Splenomegaly |
ORPHA:354 |
Tangier Disease |
|
Opacification of the corneal stroma, Splenomegaly |
OMIM:205400 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Splenomegaly |
OMIM:272200 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Stromme Syndrome |
|
Sclerocornea, Peters anomaly, Iris coloboma, Accessory spleen, Cataract, Microcornea |
OMIM:243605 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Al-Gazali Syndrome |
|
Sclerocornea, Corneal opacity |
OMIM:609465 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Tangier Disease |
|
Thrombocytopenia, Hepatosplenomegaly, Corneal opacity, Anemia |
ORPHA:31150 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Incontinentia Pigmenti |
|
Eosinophilia, Corneal opacity, Cataract, Keratitis |
ORPHA:464 |
Familial Dysautonomia |
|
Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion |
ORPHA:1764 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Splenomegaly, Hepatosplenomegaly, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Splenomegaly |
OMIM:253220 |
3Q29 Microduplication Syndrome |
|
Sclerocornea, Cataract, Aniridia, Iris coloboma |
ORPHA:251038 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... |
OMIM:175780 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia, Keratitis, Conjunctivitis |
ORPHA:1467 |
Gaucher Disease, Type Iiic |
|
Pancytopenia, Opacification of the corneal stroma, Splenomegaly |
OMIM:231005 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Opacification of the corneal stroma, Hypoplasia of the thymus, Brushfield spots, Cataract |
OMIM:214110 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris |
OMIM:613001 |
Mosaic Trisomy 9 |
|
Corneal opacity, Asplenia |
ORPHA:99776 |
Wilson Disease |
|
Hemolytic anemia, Kayser-Fleischer ring |
OMIM:277900 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Iris coloboma |
OMIM:169550 |
Lathosterolosis |
|
Opacification of the corneal stroma, Anisopoikilocytosis, Abnormal platelet morphology, Cataract,... |
ORPHA:46059 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae |
OMIM:601499 |
Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Opacification of the corneal stroma, Ocu... |
OMIM:612582 |
Alpha-Mannosidosis, Infantile Form |
|
Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Astigmatism |
ORPHA:309282 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Peters anomaly, Corneal opacity, Cataract, Megalocornea |
OMIM:236670 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Astigmatism |
ORPHA:2095 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Splenomegaly |
ORPHA:579 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess |
OMIM:116920 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma |
ORPHA:77298 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
Pyomyositis |
|
Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
Hurler Syndrome |
|
Corneal opacity, Splenomegaly |
ORPHA:93473 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Splenomegaly |
ORPHA:583 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Anemia |
ORPHA:79396 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Ectopia lentis, Iris coloboma |
ORPHA:2092 |
Brachymesomelia-Renal Syndrome |
|
Opacification of the corneal stroma |
OMIM:113470 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Peripheral opacification of the cornea |
OMIM:259600 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Corneal opacity, Cataract |
ORPHA:1052 |
Mucopolysaccharidosis Type 3 |
|
Opacification of the corneal stroma, Corneal opacity, Cataract, Splenomegaly |
ORPHA:581 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Opacification of the corneal stroma, Cataract |
OMIM:211370 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Fabry Disease |
|
Conjunctival telangiectasia, Anemia, Corneal dystrophy, Corneal opacity, Cataract |
ORPHA:324 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Carpenter Syndrome 1 |
|
Opacification of the corneal stroma, Microcornea, Polysplenia |
OMIM:201000 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity |
ORPHA:488632 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Opacification of the corneal stroma, Recurrent corneal erosions, Keratitis |
OMIM:308205 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Anemia, Splenomegaly, Hepatosplenomegaly, Corneal opacity, Pancytopeni... |
ORPHA:2072 |
De Barsy Syndrome |
|
Corneal opacity, Cataract |
ORPHA:2962 |
Chime Syndrome |
|
Corneal opacity, Acute leukemia |
ORPHA:3474 |
Neurofibromatosis Type 1 |
|
Leukemia, Lisch nodules, Chronic myelogenous leukemia, Heterochromia iridis, Corneal opacity, Cat... |
ORPHA:636 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Anemia, Lentiglobus, Abnormal pupil morphology, Corneal opacity, Cataract, Thrombocy... |
ORPHA:534 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Posterior subcapsular cataract, Megalocornea, Iris coloboma |
ORPHA:536471 |
Gaucher Disease |
|
Anemia, Splenomegaly, Corneal opacity, Pancytopenia, Thrombocytopenia |
ORPHA:355 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Corneal ulceration |
OMIM:615273 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Anemia, Conjunctivitis |
ORPHA:2908 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Corneal opacity, Megalocornea |
ORPHA:137675 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Hepatospleno... |
OMIM:607330 |
Meckel Syndrome |
|
Asplenia, Sclerocornea, Aplasia/Hypoplasia of the iris, Accessory spleen, Cataract, Microcornea |
ORPHA:564 |
Mucopolysaccharidosis, Type Vi |
|
Opacification of the corneal stroma, Splenomegaly |
OMIM:253200 |
Subaortic Stenosis--Short Stature Syndrome |
|
Opacification of the corneal stroma, Microcornea |
OMIM:271960 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Keratoconjunctivitis sicca, Buphthalmos, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Opacification of the corneal stroma, Brushfield spots, Cataract |
OMIM:214100 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Oculoectodermal Syndrome |
|
Limbal dermoid, Opacification of the corneal stroma, Microcornea, Astigmatism |
OMIM:600268 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... |
ORPHA:649 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Corneal opacity, Splenomegaly |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Corneal opacity, Splenomegaly |
ORPHA:217093 |
Kikuchi-Fujimoto Disease |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Sclerocornea, Cataract, Iris coloboma |
OMIM:309801 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sclerocornea, Corneal opacity, Posterior embryotoxon |
ORPHA:2556 |
Mucopolysaccharidosis Type 2 |
|
Corneal opacity, Splenomegaly |
ORPHA:580 |
Phace Syndrome |
|
Lens coloboma, Sclerocornea, Iris coloboma, Heterochromia iridis, Cataract |
ORPHA:42775 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Mucopolysaccharidosis, Type Ivb |
|
Opacification of the corneal stroma |
OMIM:253010 |
Mucolipidosis Ii Alpha/Beta |
|
Opacification of the corneal stroma, Megalocornea, Splenomegaly |
OMIM:252500 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Corneal erosion |
ORPHA:920 |
Proboscis Lateralis |
|
Microcornea, Corneal opacity, Cataract, Iris coloboma |
ORPHA:141099 |
Osteogenesis Imperfecta |
|
Thrombocytopenia, Corneal opacity |
ORPHA:666 |
Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal erosion, Keratitis, Corneal opacity, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Galloway-Mowat Syndrome 1 |
|
Opacification of the corneal stroma, Cataract, Hypoplasia of the iris |
OMIM:251300 |
Peters Plus Syndrome |
|
Anterior chamber synechiae, Peters anomaly, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:709 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Splenomegaly, Cataract, Opacification of the corneal stroma, Microcornea |
OMIM:133540 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Autosomal Dominant Cutis Laxa |
|
Developmental cataract, Corneal opacity |
ORPHA:90348 |
Williams Syndrome |
|
Blue irides, Flat cornea, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Corneal opacity,... |
ORPHA:904 |
Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Megalocornea, Iris coloboma |
ORPHA:280 |
Limb Body Wall Complex |
|
Corneal opacity, Lens subluxation, Iris coloboma |
ORPHA:2369 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Cataract, Iris coloboma |
ORPHA:818 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Keratitis, Cataract, Pterygium, Opacification of the corneal stroma |
ORPHA:910 |
Cockayne Syndrome A |
|
Opacification of the corneal stroma, Cataract, Splenomegaly |
OMIM:216400 |
Hutchinson-Gilford Progeria Syndrome |
|
Corneal opacity, Corneal ulceration |
ORPHA:740 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Corneal ulceration, Pterygium, Opacification of the corneal stroma, Axillary... |
OMIM:263650 |
Wiedemann-Rautenstrauch Syndrome |
|
Corneal opacity, Cataract |
ORPHA:3455 |
Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Opacification of the corneal stroma, Buphthalmos, Cataract, Megalocornea |
OMIM:253280 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Fryns Syndrome |
|
Opacification of the corneal stroma, Polysplenia |
OMIM:229850 |
Digeorge Syndrome |
|
Sclerocornea, Posterior embryotoxon |
OMIM:188400 |
Yunis-Varon Syndrome |
|
Sclerocornea, Cataract |
ORPHA:3472 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Microcornea |
OMIM:607932 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Opacification of the corneal stroma, Cataract |
OMIM:268300 |
Yunis-Varon Syndrome |
|
Sclerocornea, Cataract |
OMIM:216340 |