Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... |
OMIM:615897 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe... |
OMIM:608106 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... |
OMIM:613500 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu... |
OMIM:614699 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis |
OMIM:619549 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Decreased ... |
OMIM:609529 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections |
OMIM:616941 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... |
OMIM:619707 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Corneal arcus, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:613502 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le... |
OMIM:619773 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma |
OMIM:144010 |
Immunodeficiency 62 |
|
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Decre... |
OMIM:618459 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections |
OMIM:606445 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... |
ORPHA:182050 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... |
OMIM:300988 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Immunodeficiency 44 |
|
Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac... |
OMIM:616636 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... |
OMIM:618944 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... |
OMIM:612526 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... |
OMIM:612692 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... |
OMIM:615206 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections |
OMIM:610798 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Severe Combined Immunodeficiency, X-Linked |
|
Recurrent bacterial meningitis, Reduced natural killer cell activity, Recurrent pneumonia, Agamma... |
OMIM:300400 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections |
OMIM:615214 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac... |
OMIM:617765 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased cir... |
OMIM:618982 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Galactokinase Deficiency |
|
Cataract, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol in pl... |
ORPHA:79237 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:618987 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Persistent CMV viremia, Increased circulating IgG level, Increased circula... |
OMIM:619220 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... |
OMIM:613501 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... |
OMIM:617872 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusiti... |
OMIM:240500 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N... |
OMIM:245900 |
Immunodeficiency 15B |
|
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc... |
OMIM:615592 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level |
OMIM:233650 |
Immunodeficiency 25 |
|
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... |
OMIM:610163 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Recurrent bacteri... |
OMIM:607594 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc... |
ORPHA:98813 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Immunodeficiency 96 |
|
Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ... |
OMIM:619774 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Immunodeficiency 37 |
|
Recurrent infections, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... |
OMIM:614069 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Increa... |
ORPHA:169160 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Cataract, Impaired glucose tolerance, Increased circulating ferritin concentra... |
OMIM:606069 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Decreased circula... |
OMIM:619281 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent infections, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:619824 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr... |
OMIM:615577 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:243700 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... |
ORPHA:412 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris, Type I... |
ORPHA:290 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria |
OMIM:615605 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Severe cytomegalovirus infection, Decreased circulating total IgM, Increased circulating IgE leve... |
OMIM:617638 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu... |
ORPHA:276 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me... |
OMIM:308230 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young |
OMIM:616222 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Recurrent infections, Increased circulating IgG level, Increased... |
OMIM:618534 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis |
ORPHA:75563 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity |
ORPHA:317 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... |
OMIM:144650 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... |
ORPHA:528 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Inc... |
OMIM:618495 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Recurrent viral infections, Increased circulating IgA level, Increased circulati... |
ORPHA:169154 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... |
OMIM:300291 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections |
ORPHA:2643 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... |
ORPHA:2479 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Increased circulating IgE level, Recurrent pneumonia, Chronic m... |
OMIM:618282 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating total IgM, Recurrent sinopulmonary infections, Decreased cir... |
OMIM:614878 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Decreased circulating antibody level, Decreased circulating total IgM... |
ORPHA:331206 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... |
ORPHA:331235 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... |
OMIM:300755 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity, Type II diabetes mellitus |
ORPHA:61 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Decreased circulating IgE, D... |
OMIM:618394 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S... |
ORPHA:79240 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... |
ORPHA:3163 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc... |
OMIM:616005 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre... |
OMIM:616100 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea, Hypercholesterolemia |
OMIM:249310 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Cystinosis |
|
Corneal opacity, Hypokalemia, Aminoaciduria, Hypophosphatemia, Type I diabetes mellitus |
ORPHA:213 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Recurrent urinary tract infections, Decreased circulating IgG le... |
OMIM:620210 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating total IgM, Decrea... |
OMIM:619510 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O... |
ORPHA:425 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Iron deficiency anemia, Astigmatism, Decreased serum cre... |
OMIM:618885 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... |
ORPHA:31150 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:619752 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Partial IgA deficiency, Recurrent o... |
ORPHA:35078 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus |
OMIM:143890 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... |
ORPHA:183675 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Sialidosis Type 2 |
|
Splenomegaly, Corneal opacity |
ORPHA:87876 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Cataract, Hypoglycemia, Elevated circulating creatine kinase concentrati... |
OMIM:608836 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocyt... |
OMIM:603585 |
Smith-Magenis Syndrome |
|
Microcornea, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Elevated circulating creatinine concentration |
OMIM:614376 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... |
ORPHA:137596 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... |
ORPHA:470 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
Immunodeficiency 22 |
|
Recurrent upper respiratory tract infections, Decreased circulating total IgM, Decreased circulat... |
OMIM:615758 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Abnormal B cell proliferation, Partial ab... |
OMIM:619652 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Glyc... |
ORPHA:411634 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:248370 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Increased circulating IgA level, Increased circulating IgG level, Rec... |
OMIM:618048 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... |
OMIM:223900 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93476 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Sialidosis Type 1 |
|
Splenomegaly, Aminoaciduria, Cataract, Corneal opacity |
ORPHA:812 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent candida infections, Decreased cir... |
ORPHA:436159 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec... |
OMIM:606367 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abn... |
ORPHA:1830 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Leukopenia, Astigmatism, Thr... |
OMIM:301056 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... |
OMIM:137920 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... |
ORPHA:899 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hypoglycemic seizures, X... |
ORPHA:79259 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Astigmatism |
OMIM:619471 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration |
ORPHA:247691 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Recurrent viral infections, Increased circulating IgE level, R... |
OMIM:102700 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent infections, Decreased ci... |
OMIM:614700 |
Alagille Syndrome 1 |
|
Cataract, Hypertriglyceridemia, Band keratopathy, Abnormal anterior chamber morphology, Microcorn... |
OMIM:118450 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Decreased circulating ant... |
OMIM:619802 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Cataract, Impaired glucose tolerance, Insulin resistance, Developmental cat... |
OMIM:606721 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, A... |
ORPHA:534 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Papillorenal Syndrome |
|
Cataract, Elevated circulating creatinine concentration, Lens luxation |
OMIM:120330 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Familial Dysautonomia |
|
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... |
ORPHA:221139 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:93399 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... |
ORPHA:333 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract |
ORPHA:912 |
Wilson Disease |
|
Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia |
ORPHA:905 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93474 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Aminoaciduria, Hypoplasia of the thymus, Opacification of the corneal... |
OMIM:214110 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... |
OMIM:277900 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Primary Intestinal Lymphangiectasia |
|
Cryptococcal meningitis, Decreased circulating antibody level, Decreased circulating total IgM, O... |
ORPHA:90362 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:585 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent infections, Decreased... |
OMIM:620040 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism |
OMIM:252600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... |
OMIM:236670 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
OMIM:607015 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgA level, In... |
ORPHA:443811 |
Gm1 Gangliosidosis |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:354 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Severe varicella zoster infection, Increas... |
OMIM:618213 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hyperlipidemia, Abnorm... |
ORPHA:324 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor... |
OMIM:242900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Cataract, Elevated circulating C-reactive protein concentration, Anterior cham... |
ORPHA:91500 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Hurler Syndrome |
|
Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:607014 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity |
OMIM:272200 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Hypoalbuminemia, Anemia |
ORPHA:79396 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... |
ORPHA:340 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Insulin resistance, Posterior subcapsular cataract, Hyperinsulinemia, Astigmat... |
ORPHA:273 |
3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Corneal opacity |
ORPHA:488632 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Lathosterolosis |
|
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... |
ORPHA:46059 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Glycosuria, Abnormal cornea morphology, Amino... |
ORPHA:411629 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Corneal opacity |
OMIM:253220 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Mosaic Trisomy 9 |
|
Asplenia, Corneal opacity |
ORPHA:99776 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis |
ORPHA:2092 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:612301 |
Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity, Eosinophilia |
ORPHA:464 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism |
ORPHA:309282 |
Congenital Disorder Of Deglycosylation 1 |
|
Hyperalaninemia, Corneal ulceration, Corneal opacity, Elevated circulating alpha-fetoprotein conc... |
OMIM:615273 |
Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia, Hypoglycemia |
ORPHA:137675 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Corneal opacity |
ORPHA:579 |
De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:274000 |
Gaucher Disease |
|
Pancytopenia, Corneal opacity, Elevated circulating C-reactive protein concentration, Thrombocyto... |
ORPHA:355 |
Hurler Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93473 |
Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Cataract, Corneal opacity, Opacification of the corneal stroma |
ORPHA:581 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... |
OMIM:158310 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Brushfield spots, Aminoaciduria, Opacification of the corneal stroma, Elevated circulat... |
OMIM:214100 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma |
ORPHA:536471 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phy... |
OMIM:614866 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Carpenter Syndrome 1 |
|
Microcornea, Polysplenia, Opacification of the corneal stroma |
OMIM:201000 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Cataract, Corneal opacity |
ORPHA:1052 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi... |
ORPHA:2072 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Corneal opacity |
OMIM:253200 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma |
OMIM:251300 |
Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Opacification of the corneal stroma |
ORPHA:583 |
Igg4-Related Submandibular Gland Disease |
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Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
Igg4-Related Kidney Disease |
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Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... |
ORPHA:449395 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... |
OMIM:619534 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Chime Syndrome |
|
Corneal opacity, Acute leukemia |
ORPHA:3474 |
Williams Syndrome |
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Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ... |
ORPHA:904 |
Kindler Epidermolysis Bullosa |
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Conjunctivitis, Anemia, Corneal opacity |
ORPHA:2908 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i... |
ORPHA:636 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Smith-Lemli-Opitz Syndrome |
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Elevated circulating 7-dehydrocholesterol concentration, Cataract, Iris coloboma, Sclerocornea |
ORPHA:818 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Sclerocornea |
OMIM:300952 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Microphthalmia With Linear Skin Defects Syndrome |
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Posterior embryotoxon, Corneal opacity, Sclerocornea |
ORPHA:2556 |
Meckel Syndrome |
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Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Phace Syndrome |
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Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Mucolipidosis Ii Alpha/Beta |
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Splenomegaly, Megalocornea, Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252500 |
Proboscis Lateralis |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217093 |
Osteogenesis Imperfecta |
|
Corneal opacity, Thrombocytopenia |
ORPHA:666 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Aminoaciduria, Opacification of the corneal str... |
ORPHA:910 |
Mucopolysaccharidosis Type 2 |
|
Splenomegaly, Corneal opacity |
ORPHA:580 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Type II diabetes mellitus, Hypertriglyceridemia |
ORPHA:3455 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Oculoectodermal Syndrome |
|
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma |
OMIM:600268 |
Peters Plus Syndrome |
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Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Corneal ulceration, Corneal opacity |
ORPHA:740 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Wolf-Hirschhorn Syndrome |
|
Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract |
ORPHA:90348 |
Digeorge Syndrome |
|
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Posterior e... |
OMIM:188400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... |
OMIM:253280 |
Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
Cockayne Syndrome B |
|
Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c... |
OMIM:133540 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
Cockayne Syndrome A |
|
Splenomegaly, Cataract, Opacification of the corneal stroma |
OMIM:216400 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
ORPHA:3472 |
Fryns Syndrome |
|
Polysplenia, Opacification of the corneal stroma |
OMIM:229850 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... |
OMIM:308205 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
OMIM:216340 |