Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Eosinophilia, Familial |
|
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Conjunctivitis |
ORPHA:26137 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... |
ORPHA:1067 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Loeffler Endocarditis |
|
Left atrial enlargement, Eosinophilia, Pericarditis, Endocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microcornea, Corneal opacity |
ORPHA:2432 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
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 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation |
OMIM:614493 |
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 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion |
OMIM:608470 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced nat... |
OMIM:300400 |
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 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
OMIM:601859 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Burkitt lymphoma, Reduced ... |
OMIM:308240 |
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 |
Candidiasis, Familial, 2 |
|
Hypereosinophilia |
OMIM:212050 |
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 |
Mucolipidosis Type Iii |
|
Abnormal aortic valve morphology, Abnormal heart valve morphology, Corneal opacity |
ORPHA:577 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal cardiac septum morphology |
ORPHA:2370 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphoc... |
OMIM:603554 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology, Corneal opacity |
ORPHA:93476 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma, Abnormal heart valve morphology |
OMIM:252700 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Reduced natural killer cell activity, Decreased circulating IgG ... |
OMIM:619281 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia, Keratitis |
OMIM:618523 |
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 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia |
OMIM:616651 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis,... |
OMIM:158310 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Punctate keratitis, Splenomegaly, Hypereosinophilia, Co... |
OMIM:617388 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Corneal opacity |
OMIM:618815 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
Cinca Syndrome |
|
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia |
OMIM:607115 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Decreased circulating antibody level, Abnormal natural killer cell physiology |
OMIM:613101 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, At... |
ORPHA:290 |
Roifman Syndrome |
|
Hepatosplenomegaly, Eosinophilia, Noncompaction cardiomyopathy |
ORPHA:353298 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
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 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Astigmatism |
OMIM:617713 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Reduced natural killer cell activity, Lymphoproliferative disorder, Increased circulating antibod... |
OMIM:615559 |
Immunodeficiency 81 |
|
Reduced antigen-specific T cell proliferation, Reduced natural killer cell activity, Impaired neu... |
OMIM:619374 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... |
OMIM:300291 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity |
OMIM:615707 |
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 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia |
OMIM:147060 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Fish-Eye Disease |
|
Hepatomegaly, Corneal opacity, Splenomegaly |
ORPHA:79292 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... |
ORPHA:331206 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... |
ORPHA:98849 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia |
ORPHA:39041 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
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 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia |
OMIM:618999 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia |
ORPHA:169160 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
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 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Brittle Cornea Syndrome 2 |
|
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus |
OMIM:614170 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma, Normochromic anemia, Hemolytic anemia |
OMIM:245900 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Corneal opacity, Cataract |
OMIM:613153 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Cardiomegaly, Corneal dystrophy, Iris coloboma, Astigmati... |
OMIM:253250 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Aspergillosis |
|
Eosinophilia, Neutropenia, Keratitis |
ORPHA:1163 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Splenomegaly |
ORPHA:87876 |
Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Abnormal heart morphology, Abscess, Eosinophilia |
ORPHA:400 |
Hereditary Bullous Dystrophy, Macular Type |
|
Abnormal heart morphology, Corneal opacity, Cataract |
ORPHA:1867 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Cardiomyopathy, Bone-marrow foam cells, Splen... |
OMIM:256550 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Hypertrophic cardiomyopathy, Endocarditis, Eosinophilia, Abnormal pericardium morpho... |
ORPHA:183 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced natural killer ... |
ORPHA:540 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Cataract |
ORPHA:317 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
Alpha-Mannosidosis |
|
Hepatomegaly, Corneal opacity, Cataract, Splenomegaly |
ORPHA:61 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Abnormal heart morphology, Hepatosplenomegaly, Corneal opacity, Cataract, Viscerome... |
ORPHA:93399 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization |
ORPHA:163934 |
Congenital Toxoplasmosis |
|
Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea |
OMIM:152950 |
Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
Scleroderma |
|
Myocarditis, Pericarditis, Keratitis, Interstitial cardiac fibrosis, Hypereosinophilia |
ORPHA:801 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... |
ORPHA:860 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity |
OMIM:616050 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Aplasia/Hypoplasia of the iris |
ORPHA:137902 |
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 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cataract |
ORPHA:3137 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
ORPHA:3261 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... |
OMIM:300257 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... |
ORPHA:85451 |
Microphthalmia, Isolated 3 |
|
Sclerocornea |
OMIM:611038 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Alveolar Echinococcosis |
|
Anemia, Abnormal spleen morphology, Eosinophilia, Abnormal pericardium morphology, Cutaneous absc... |
ORPHA:284 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium |
OMIM:270200 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Developmental cataract, Abnormal heart morphology, Hepatosplenomegaly, Corneal opac... |
ORPHA:93400 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Corneal opacity, Cataract |
ORPHA:496790 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Timothy Syndrome |
|
Cardiomegaly, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia |
OMIM:617425 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly |
OMIM:212140 |
Short Syndrome |
|
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... |
ORPHA:3163 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Cardiomegaly |
ORPHA:349 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Ventricular septal defect, Anemia, Hepatosplenomegaly, Atrial septal defect, Tetral... |
OMIM:274000 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly |
OMIM:607015 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Mitral valve prolapse, Hypereosinophilia, Decreased proportion of CD4-positive help... |
ORPHA:508533 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Tangier Disease |
|
Left ventricular hypertrophy, Opacification of the corneal stroma, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Incontinentia Pigmenti |
|
Eosinophilia, Corneal opacity, Cataract, Keratitis |
ORPHA:464 |
Neurotrophic Keratopathy |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... |
ORPHA:137596 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Myocardial eosinophilic infiltration, Anemi... |
ORPHA:3260 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia, Cataract, Keratitis |
OMIM:308300 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Galactosialidosis |
|
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly |
OMIM:256540 |
Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly |
ORPHA:93474 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Sialidosis Type 1 |
|
Corneal opacity, Cataract, Splenomegaly |
ORPHA:812 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Leukopenia, Double outlet right ventri... |
OMIM:301056 |
Mietens Syndrome |
|
Sclerocornea, Microcornea, Corneal opacity, Cataract |
ORPHA:2557 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Atrial septal defect, Corneal opacity, Abnormal an... |
ORPHA:96125 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Hepatosplenomegaly, Corneal opacity, Cataract |
ORPHA:309288 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Zellweger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Posterior embryotoxon, Brushfield spots, Corneal opacity... |
ORPHA:912 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Cutis Laxa, Autosomal Dominant 3 |
|
Developmental cataract, Corneal opacity |
OMIM:616603 |
Hurler Syndrome |
|
Hepatomegaly, Endocardial fibroelastosis, Cardiomyopathy, Splenomegaly, Hepatosplenomegaly, Corne... |
OMIM:607014 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Ventricular septal defect, Hypoplasia of the iris, Sclerocornea, Subvalvular aort... |
OMIM:613001 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Conjunctivitis |
OMIM:602562 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Corneal opacity, Developmental glaucoma, Megalocornea |
ORPHA:2409 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Cardiomegaly, Splenomegaly, Increased red cell sickling tendency, Hem... |
OMIM:603903 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Eosinophilia, Normocytic anemia |
ORPHA:199299 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Corneal opacity, Developmental glaucoma |
ORPHA:1064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Cataract, Splenomegaly |
ORPHA:585 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea |
ORPHA:1806 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Abnormal heart morphology, Opacification of the corneal stroma, Anterior chamber syn... |
OMIM:601499 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Microcornea, Cataract, Ectopia pupillae |
OMIM:615877 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Corneal opacity, Cataract |
ORPHA:2399 |
Tangier Disease |
|
Coronary artery stenosis, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Corneal opaci... |
ORPHA:31150 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Splenomegaly, Hepatosplenom... |
ORPHA:354 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
OMIM:235200 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal scarring, Corneal ulceration |
OMIM:616488 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... |
OMIM:306955 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Abnormal heart morphology, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Cata... |
OMIM:614866 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma, Aortic valve stenosis |
OMIM:252605 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Wilson Disease |
|
Hepatomegaly, Anemia, Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia |
ORPHA:905 |
Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Opacification of the corneal stroma |
OMIM:614230 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Sclerocornea, Aniridia, Iris coloboma, Cataract |
ORPHA:251038 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Neutropenia, Bone marrow hypocellularity, Anemia, Corn... |
ORPHA:1830 |
Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Asplenia, Endocardial fibroelastosis, Atrial septal defe... |
ORPHA:99776 |
Microphthalmia With Brain And Digit Anomalies |
|
Sclerocornea, Microcornea, Cataract, Iris coloboma |
ORPHA:139471 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology, Corneal opacity |
OMIM:253220 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Cataract, Thrombocytopenia |
OMIM:251290 |
Coccidioidomycosis |
|
Abnormality of the spleen, Pericarditis, Abscess, Granuloma, Eosinophilia |
ORPHA:228123 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve pro... |
ORPHA:324410 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Ventricular septal defect, Iris coloboma |
ORPHA:77298 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poikilocytosis, Reticulocytos... |
OMIM:618278 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Abnormal heart morphology, Hypoplasia of the thymus, Brushfield spots, Cataract, Op... |
OMIM:214110 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Atrial septal... |
OMIM:612582 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Splenomegaly |
OMIM:272200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Corneal ulceration, Opacification of the corneal stroma, Recurrent c... |
OMIM:256800 |
Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Splenomegaly, Abnormal heart valve... |
ORPHA:579 |
Walker-Warburg Syndrome |
|
Microcornea, Corneal opacity, Cataract, Iris coloboma |
ORPHA:899 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Hurler Syndrome |
|
Hepatomegaly, Endocardial fibroelastosis, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... |
ORPHA:93473 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Astigmatism, Anemia, Lymphopenia, Opac... |
OMIM:242900 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Mucopolysaccharidosis Type 4 |
|
Abnormal heart valve morphology, Corneal opacity |
ORPHA:582 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly, Corneal opacity, Abnormal conjunctiva morphology, O... |
ORPHA:333 |
8Q21.11 Microdeletion Syndrome |
|
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation |
ORPHA:284160 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Abnormal heart valve morphology, Splenomegaly |
ORPHA:583 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation |
OMIM:608233 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Overriding aorta, Hypoplasia of the thymus |
OMIM:617022 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Reduced natural killer cell activity |
OMIM:603553 |
Igg4-Related Pachymeningitis |
|
Eosinophilia |
ORPHA:449427 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Splenomegaly |
ORPHA:584 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Anemia, Corneal opacity, Cataract, Iris hypopigmentation |
ORPHA:2719 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Fabry Disease |
|
Hypertrophic cardiomyopathy, Abnormal endocardium morphology, Abnormal aortic valve morphology, C... |
ORPHA:324 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... |
ORPHA:581 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Corneal arcus, Mitral valve prolapse, Cardiomegaly, Pulm... |
OMIM:602782 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:201475 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... |
ORPHA:363705 |
Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Tortuosity of conjunctival vessels |
OMIM:230000 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Congenital aphakia, Cardiomegaly, Corneal opacity, Megal... |
ORPHA:137675 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Pericarditis, Enlarged kidney |
ORPHA:449395 |
Al-Gazali Syndrome |
|
Sclerocornea, Corneal opacity |
OMIM:609465 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Histiocytoid cardiomyopathy, Sclerocornea, Iris coloboma, Atrial septa... |
OMIM:309801 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Sarcoidosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Leukopenia, Increased T cell count, Anemia, Cataract, A... |
ORPHA:797 |
Phace Syndrome |
|
Lens coloboma, Sclerocornea, Abnormal heart morphology, Iris coloboma, Heterochromia iridis, Tetr... |
ORPHA:42775 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Hypoplasia of the iris, Ectopia lentis, Iris coloboma, Corneal opacity... |
ORPHA:2092 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Cataract, Enlarged kidney |
OMIM:608836 |
Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Fryns Syndrome |
|
Corneal opacity, Tetralogy of Fallot, Abnormal cardiac septum morphology |
ORPHA:2059 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Keratitis |
ORPHA:449563 |
Familial Dysautonomia |
|
Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion |
ORPHA:1764 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Anemia, Splenomegaly, Abnormal heart valve morphology, ... |
ORPHA:355 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly |
ORPHA:465508 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Mitral valve prolapse, Peripheral opacification of the cornea |
OMIM:259600 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Pulmonic stenosis, Transposition of the great arteries, Atrial septal ... |
OMIM:201000 |
Stromme Syndrome |
|
Sclerocornea, Peters anomaly, Iris coloboma, Accessory spleen, Cataract, Microcornea |
OMIM:243605 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart morphology, Abnormal tricuspid val... |
ORPHA:580 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Abnormal heart valve morphology, Opacification of the... |
OMIM:253200 |
Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Megalocornea, Opacificatio... |
OMIM:252500 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:608013 |
Chime Syndrome |
|
Ventricular septal defect, Acute leukemia, Transposition of the great arteries, Corneal opacity, ... |
ORPHA:3474 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defec... |
ORPHA:79330 |
Craniofaciofrontodigital Syndrome |
|
Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Tbck-Related Intellectual Disability Syndrome |
|
Ventricular septal defect, Corneal opacity, Pulmonic stenosis |
ORPHA:488632 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Kayser-Fleischer ring |
OMIM:277900 |
Subaortic Stenosis--Short Stature Syndrome |
|
Opacification of the corneal stroma, Microcornea, Membranous subvalvular aortic stenosis, Subvalv... |
OMIM:271960 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Corneal opacity |
OMIM:163200 |
Wiskott-Aldrich Syndrome |
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Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Oculoectodermal Syndrome |
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Hypertrophic cardiomyopathy, Limbal dermoid, Astigmatism, Atrial septal defect, Opacification of ... |
OMIM:600268 |
Mosaic Variegated Aneuploidy Syndrome |
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Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Corneal opacity, Atrial septal defect,... |
ORPHA:1052 |
Mucopolysaccharidosis, Type Iva |
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Opacification of the corneal stroma, Abnormal heart valve morphology, Hepatomegaly |
OMIM:253000 |
Pelvis-Shoulder Dysplasia |
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Opacification of the corneal stroma, Iris coloboma |
OMIM:169550 |
Autoimmune Polyendocrinopathy Type 1 |
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Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Posterior subcapsular cataract, Pulmonic stenosis, Iris coloboma, Abnormal heart valve morphology... |
ORPHA:536471 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Buphthalmos, Peters anomaly, Corneal opacity, Cataract, Megalocornea |
OMIM:236670 |
Gorlin-Chaudhry-Moss Syndrome |
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Sclerocornea, Astigmatism |
ORPHA:2095 |
Mucopolysaccharidosis Type 2, Severe Form |
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Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Cardiomyopathy, Splenomega... |
ORPHA:217085 |
De Barsy Syndrome |
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Ventricular septal defect, Corneal opacity, Cataract |
ORPHA:2962 |
Viss Syndrome |
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Ventricular septal defect, Right ventricular dilatation, Mitral valve prolapse, Right ventricular... |
OMIM:619472 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Cardiomyopathy, Splenomega... |
ORPHA:217093 |
Naxos Disease |
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Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
Sandhoff Disease |
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Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly |
ORPHA:255249 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Astigmatism, Ventricular septal defect, Aortic valve stenosis, Corneal opacity |
ORPHA:464311 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... |
OMIM:175780 |
Microphthalmia With Linear Skin Defects Syndrome |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Posterior embryotoxon... |
ORPHA:2556 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Bacterial endocarditis, Abnormality of the spleen, Mitral valve calcification, Anemia, Splenomega... |
ORPHA:2072 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Opacification of the corneal stroma |
OMIM:615287 |
Lathosterolosis |
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Hepatomegaly, Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology, Cataract, Opac... |
ORPHA:46059 |
Encephalocraniocutaneous Lipomatosis |
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Corneal opacity, Aortic valve stenosis, Tricuspid valve prolapse, Iris coloboma |
ORPHA:2396 |
Limb Body Wall Complex |
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Ventricular septal defect, Ectopia cordis, Lens subluxation, Abnormal heart morphology, Iris colo... |
ORPHA:2369 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Alpha-Mannosidosis, Infantile Form |
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Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Astigmatism |
ORPHA:309282 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Astigmatism, Ventricular septal defect, Aortic valve stenosis, Corneal opacity |
ORPHA:464306 |
Brachymesomelia-Renal Syndrome |
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Opacification of the corneal stroma |
OMIM:113470 |
Larsen Syndrome |
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Ventricular septal defect, Atrial septal defect, Corneal opacity |
OMIM:150250 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Opacification of the corneal stroma, Cataract |
OMIM:211370 |
Gomez-Lopez-Hernandez Syndrome |
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Opacification of the corneal stroma |
OMIM:601853 |
Mucopolysaccharidosis, Type Ivb |
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Opacification of the corneal stroma, Aortic valve stenosis, Hepatomegaly |
OMIM:253010 |
Truncus Arteriosus |
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Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy |
ORPHA:308552 |
Abetalipoproteinemia |
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Keratoconjunctivitis sicca, Hepatomegaly, Acanthocytosis, Cardiomegaly, Anemia, Corneal ulceratio... |
ORPHA:14 |
Congenital Disorder Of Deglycosylation 1 |
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Hepatomegaly, Corneal opacity, Corneal ulceration |
OMIM:615273 |
Congenital Disorder Of Glycosylation, Type It |
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Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Mosaic Trisomy 8 |
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Corneal opacity |
ORPHA:96061 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Hepatomegaly, Ventricular septal defect, Brushfield spots, Cataract, Opacification of the corneal... |
OMIM:214100 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Opacification of the corneal stroma, Recurrent corneal erosions, Keratitis |
OMIM:308205 |
Mucolipidosis Iii Alpha/Beta |
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Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy |
ORPHA:228308 |
Absence Of The Pulmonary Artery |
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Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
Apolipoprotein A-I Deficiency |
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Opacification of the corneal stroma |
ORPHA:425 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Corneal opacity, Anemia |
ORPHA:79396 |
Meckel Syndrome |
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Asplenia, Sclerocornea, Situs inversus totalis, Aplasia/Hypoplasia of the iris, Accessory spleen,... |
ORPHA:564 |
3Mc Syndrome 3 |
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Corneal opacity |
OMIM:248340 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Corneal crystals |
OMIM:219900 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Ventricular septal defect, Corneal opacity, Ventricular septal hypertrophy |
OMIM:608670 |
Williams Syndrome |
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Hypertrophic cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal endocardi... |
ORPHA:904 |
Proboscis Lateralis |
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Ventricular septal defect, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:141099 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Corneal opacity |
ORPHA:364577 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Opacification of the corneal stroma |
OMIM:313400 |
Peters Plus Syndrome |
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Anterior chamber synechiae, Bicuspid pulmonary valve, Peters anomaly, Pulmonic stenosis, Iris col... |
ORPHA:709 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly, Abnormality iris morphology |
ORPHA:91387 |
Wolf-Hirschhorn Syndrome |
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Sclerocornea, Iris coloboma, Abnormal heart valve morphology, Atrial septal defect, Megalocornea,... |
ORPHA:280 |
Moebius Syndrome |
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Corneal opacity |
ORPHA:570 |
Oculocerebrorenal Syndrome Of Lowe |
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Buphthalmos, Anemia, Lentiglobus, Abnormal pupil morphology, Corneal opacity, Cataract, Thrombocy... |
ORPHA:534 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Hutchinson-Gilford Progeria Syndrome |
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Mitral valve calcification, Abnormal mitral valve morphology, Abnormal aortic valve morphology, V... |
ORPHA:740 |
Congenital Tracheomalacia |
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Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
Mosaic Trisomy 1 |
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Opacification of the corneal stroma, Ventricular septal defect |
ORPHA:1692 |
Greenberg Dysplasia |
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Hepatomegaly, Cardiomegaly, Bone marrow hypocellularity, Hepatosplenomegaly, Extramedullary hemat... |
OMIM:215140 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Keratoconjunctivitis sicca, Buphthalmos, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
Neurofibromatosis Type 1 |
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Leukemia, Lisch nodules, Chronic myelogenous leukemia, Heterochromia iridis, Corneal opacity, Cat... |
ORPHA:636 |
Osteogenesis Imperfecta |
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Thrombocytopenia, Abnormal endocardium morphology, Mitral valve prolapse, Corneal opacity |
ORPHA:666 |
Congenital Total Pulmonary Venous Return Anomaly |
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Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
Lathosterolosis |
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Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Acanthocytosis, Hepatospleno... |
OMIM:607330 |
Autosomal Dominant Cutis Laxa |
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Developmental cataract, Corneal opacity, Dilatation of the ventricular cavity |
ORPHA:90348 |
Aicardi-Goutières Syndrome |
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Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Neonat... |
ORPHA:51 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... |
OMIM:300967 |
Norrie Disease |
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Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocornea, Anterior ch... |
ORPHA:649 |
Kindler Epidermolysis Bullosa |
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Corneal opacity, Anemia, Conjunctivitis |
ORPHA:2908 |
Van Den Ende-Gupta Syndrome |
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Sclerocornea |
OMIM:600920 |
Smith-Lemli-Opitz Syndrome |
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Ventricular septal defect, Atrioventricular canal defect, Sclerocornea, Iris coloboma, Atrial sep... |
ORPHA:818 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Microcytic anemia, Thrombocytopenia, Punctate opacifica... |
OMIM:256040 |
Dermatomyositis |
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Myocarditis, Abnormal eosinophil morphology, Pericarditis |
ORPHA:221 |
Ablepharon Macrostomia Syndrome |
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Corneal opacity, Corneal erosion |
ORPHA:920 |
Cushing Disease |
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Leukocytosis, Lymphopenia, Decreased eosinophil count |
ORPHA:96253 |
Stuve-Wiedemann Syndrome 1 |
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Opacification of the corneal stroma |
OMIM:601559 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Fraser Syndrome 1 |
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Abnormal heart morphology, Corneal opacity |
OMIM:219000 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Sclerocornea, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetr... |
ORPHA:3472 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Corneal erosion, Keratitis, Corneal opacity, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Cockayne Syndrome B |
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Hepatomegaly, Hypoplasia of the iris, Splenomegaly, Cataract, Opacification of the corneal stroma... |
OMIM:133540 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Enlarged kidney |
OMIM:130650 |
Galloway-Mowat Syndrome 1 |
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Opacification of the corneal stroma, Cataract, Hypoplasia of the iris |
OMIM:251300 |
Digeorge Syndrome |
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Ventricular septal defect, Truncus arteriosus, Posterior embryotoxon, Sclerocornea, Tetralogy of ... |
OMIM:188400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy |
ORPHA:365 |
Wiedemann-Rautenstrauch Syndrome |
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Congenital malformation of the left heart, Pulmonic stenosis, Corneal opacity, Dysplastic pulmona... |
ORPHA:3455 |
Bartsocas-Papas Syndrome 1 |
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Popliteal pterygium, Corneal ulceration, Pterygium, Opacification of the corneal stroma, Axillary... |
OMIM:263650 |
Cockayne Syndrome A |
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Opacification of the corneal stroma, Hepatomegaly, Cataract, Splenomegaly |
OMIM:216400 |
Xeroderma Pigmentosum |
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Conjunctival telangiectasia, Keratitis, Cataract, Pterygium, Opacification of the corneal stroma |
ORPHA:910 |
Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Polycythemia, Cardiomegaly, Splenomegaly, Enlarged kid... |
ORPHA:116 |
Infection-Related Hemolytic Uremic Syndrome |
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Abnormality of chemokine secretion, Increased circulating interleukin 6, Abnormality of interfero... |
ORPHA:544482 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Leukocytosis, Lymphopenia, Decreased eosinophil count |
ORPHA:99889 |
Fryns Syndrome |
|
Opacification of the corneal stroma, Ventricular septal defect, Atrial septal defect, Polysplenia |
OMIM:229850 |
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 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Myocardial calcification, Cardiomegaly, Pericardial effusion |
ORPHA:51608 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Sclerocornea, Cardiomyopathy, Tetralogy of Fallot, Cataract, Patent fo... |
OMIM:216340 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Accessory spleen, Atrial septal defect, Cataract, Opacification of the... |
OMIM:268300 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Microcornea |
OMIM:607932 |