Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Hypercholesterolemia, Myocardial infarction, Diabetes mellitus |
OMIM:608320 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Congestive heart failure, Decreased HDL cholesterol concentration, Increased ... |
OMIM:615703 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia |
OMIM:232700 |
Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... |
OMIM:604229 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... |
OMIM:614170 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... |
ORPHA:98957 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hyperten... |
OMIM:610947 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Angina pectoris, Hypercholesterolemia, Hypertriglyceride... |
OMIM:614025 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
Aniridia 1 |
|
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hypoplasia of the iris, Ectopia pup... |
OMIM:106210 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Mietens Syndrome |
|
Wide nasal bridge, Cataract, Microcornea, Corneal opacity, Sclerocornea, Short nose |
ORPHA:2557 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... |
OMIM:113900 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr... |
OMIM:620211 |
Cardiomyopathy, Dilated, 1Bb |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:612877 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Microphthalmia/Coloboma 9 |
|
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis |
OMIM:615145 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... |
OMIM:613697 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy |
ORPHA:1806 |
Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... |
OMIM:601493 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Microphthalmia With Brain And Digit Anomalies |
|
Sclerocornea, Cataract, Microcornea, Iris coloboma |
ORPHA:139471 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... |
ORPHA:1344 |
Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... |
OMIM:615812 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
3Q29 Microduplication Syndrome |
|
Wide nasal bridge, Cataract, Aniridia, Sclerocornea, Iris coloboma |
ORPHA:251038 |
Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... |
OMIM:613838 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Stromme Syndrome |
|
Wide nasal bridge, Cataract, Microcornea, Peters anomaly, Stillbirth, Sclerocornea, Iris coloboma |
OMIM:243605 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Elevated circulating C-reactive protein concentration, Punctate keratitis, Keratoconjunctivitis s... |
OMIM:617388 |
Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus |
OMIM:612526 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... |
OMIM:614954 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Sclerocornea, Ventr... |
OMIM:300952 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
Galactokinase Deficiency |
|
Cataract, Nuclear cataract, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level... |
ORPHA:79237 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... |
OMIM:601494 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Conj... |
OMIM:278730 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:613158 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:613243 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
Analbuminemia |
|
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... |
OMIM:616000 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... |
OMIM:612109 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen |
ORPHA:89844 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity |
ORPHA:284160 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... |
ORPHA:439232 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Astigmatism |
ORPHA:2095 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma |
ORPHA:77298 |
Al-Gazali Syndrome |
|
Sclerocornea, Corneal opacity |
OMIM:609465 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... |
ORPHA:90065 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Keratoconjunctivitis, Melena, Opacification of the corneal ... |
OMIM:158310 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... |
OMIM:181350 |
Hemochromatosis, Type 4 |
|
Cataract, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Arrh... |
OMIM:606069 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Sclerocornea, Cataract, Wide nasal bridge |
OMIM:614230 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Glycogen Storage Disease Xv |
|
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... |
OMIM:613507 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
Myotonic Dystrophy 2 |
|
Posterior subcapsular cataract, Insulin insensitivity, Palpitations, Type II diabetes mellitus, R... |
OMIM:602668 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Hype... |
ORPHA:412 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Limbal dermoid, Hypoplasia of the iris |
OMIM:613001 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Muscle Filaminopathy |
|
Cardiomyopathy, Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right... |
ORPHA:171445 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Cataract, Peters anomaly, Histiocytoid cardiomyopathy, Arrhythmia... |
OMIM:309801 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block, Elevate... |
ORPHA:206559 |
Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Elevated... |
OMIM:614034 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Hypercholesterolemia, Hyperuricemia, Diabetes mellitus |
ORPHA:77296 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Corneal opacity |
ORPHA:2370 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... |
OMIM:255160 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... |
ORPHA:563 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:300695 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract, Bra... |
OMIM:618815 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... |
OMIM:115195 |
Mirage Syndrome |
|
Lymphopenia, Leukopenia, Intrauterine growth retardation, Thrombocytopenia, Anemia, Hypoplastic s... |
OMIM:617053 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hype... |
ORPHA:528 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Hypercholesterolemia, Re... |
ORPHA:401923 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
Kid Syndrome |
|
Keratitis, Corneal neovascularization, Limbal stem cell deficiency, Punctate keratitis, Keratocon... |
ORPHA:477 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... |
ORPHA:263297 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Erythrokeratodermia Variabilis |
|
Cataract, Diabetes mellitus, Corneal opacity |
ORPHA:317 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nasal bridge, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, ... |
ORPHA:2556 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity |
ORPHA:1473 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Ventricular bigeminy, Glucose intolerance, Elevated circulating creatine kinase concentration, Ar... |
OMIM:610131 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Granular Corneal Dystrophy Type Ii |
|
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... |
ORPHA:75566 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... |
ORPHA:99886 |
Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia |
ORPHA:633 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity, Decreased HDL cholesterol concentration |
ORPHA:79292 |
Temple Syndrome |
|
Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia |
OMIM:616222 |
Megalocornea-Intellectual Disability Syndrome |
|
Wide nasal bridge, Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Hypercholeste... |
ORPHA:2479 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... |
OMIM:115197 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Corneal neovascularization, Corneal... |
ORPHA:404454 |
Smith-Lemli-Opitz Syndrome |
|
Wide nasal bridge, Cataract, Elevated circulating 7-dehydrocholesterol concentration, Sclerocorne... |
ORPHA:818 |
Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... |
ORPHA:2457 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Ectopia pupillae, Hypoplasia of the iris, Cerebral hemorrhage, Ischemic stroke, Asti... |
OMIM:175780 |
Short Syndrome |
|
Wide nasal bridge, Insulin resistance, Hypoplasia of the iris, Megalocornea, Abnormal pupil morph... |
ORPHA:3163 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Cataract, Gastroi... |
ORPHA:247598 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... |
ORPHA:99103 |
Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Wide nasal bridge, Iris coloboma, Megalocornea |
ORPHA:280 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Megalocorne... |
ORPHA:137675 |
Neuhauser Syndrome |
|
Wide nasal bridge, Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia, Iris... |
OMIM:249310 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... |
OMIM:615415 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:608600 |
Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... |
ORPHA:649 |
Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... |
ORPHA:99106 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Phace Syndrome |
|
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma |
ORPHA:42775 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Short nose, Developmental cataract, Corneal opacity |
OMIM:617183 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... |
OMIM:615344 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Pearson Syndrome |
|
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... |
ORPHA:699 |
Microphthalmia, Syndromic 3 |
|
Sclerocornea, Cataract |
OMIM:206900 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Ebstein Anomaly |
|
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... |
OMIM:224700 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... |
OMIM:601214 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Meckel Syndrome |
|
Sclerocornea, Cataract, Microcornea, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
Congenital Rubella Syndrome |
|
Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:290 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
Scorpion Envenomation |
|
Mydriasis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle bran... |
ORPHA:466677 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Microcornea, Hypercholesterolemia, Hypertriglyceridemia, Short nose |
ORPHA:819 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
22Q11.2 Deletion Syndrome |
|
Wide nasal bridge, Cataract, Gastrointestinal hemorrhage, Hypertensive crisis, Corneal neovascula... |
ORPHA:567 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Brachyolmia Type 1, Hobaek Type |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:271530 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Multilobulated spleen, Hypoplastic spleen, Neonatal death |
OMIM:601186 |
Fabry Disease |
|
Cataract, Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart fail... |
ORPHA:324 |
Lcat Deficiency |
|
Corneal opacity, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, De... |
ORPHA:650 |
Neurocardiofaciodigital Syndrome |
|
Sclerocornea, Cataract |
OMIM:619869 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness |
OMIM:618175 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Cataract, First degree atrioventricular block |
ORPHA:589821 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... |
ORPHA:567548 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Alpha-Mannosidosis |
|
Cataract, Type II diabetes mellitus, Corneal opacity |
ORPHA:61 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
Neurotrophic Keratopathy |
|
Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e... |
ORPHA:137596 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Hypercholesterolemia, Hyperammonemia, Hypoglycemia |
OMIM:620454 |
Lacrimoauriculodentodigital Syndrome |
|
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... |
ORPHA:2363 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
OMIM:616479 |
Yunis-Varon Syndrome |
|
Cataract, Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Renovascular hypertensio... |
ORPHA:3472 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... |
ORPHA:1329 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Gaisböck Syndrome |
|
Elevated diastolic blood pressure, Hyperuricemia, Hypovolemia, Angina pectoris, Hypercholesterole... |
ORPHA:90041 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Elevated circulating creatine kinase concentration |
ORPHA:254361 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia |
OMIM:616730 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... |
ORPHA:99104 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... |
ORPHA:86816 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Short nose, Corneal opacity |
ORPHA:496790 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short nose, Corneal opacity |
OMIM:618961 |
Apolipoprotein A-I Deficiency |
|
Abnormal circulating lipid concentration, Xanthelasma, Angina pectoris, Decreased HDL cholesterol... |
ORPHA:425 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia,... |
ORPHA:79240 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Cystinosis |
|
Type I diabetes mellitus, Portal hypertension, Hypokalemia, Hypophosphatemia, Corneal opacity |
ORPHA:213 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Portal hypertension, Hypertriglyceridemia, Hypercholeste... |
OMIM:278000 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Wide nasal bridge, Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Mitral regurgitation, Right bundle branch block, Astigmatism |
OMIM:619576 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypercholestero... |
ORPHA:264580 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity |
OMIM:166300 |
Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity |
OMIM:152950 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity |
ORPHA:93476 |
Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Elevated circulatin... |
ORPHA:93672 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... |
OMIM:619662 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... |
OMIM:269200 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Cataract, Type I diabetes mellitus, Glucose intolerance, Pulmonary arterial h... |
OMIM:606721 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... |
OMIM:248370 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... |
OMIM:221900 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Ebstein Malformation Of The Tricuspid Valve |
|
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... |
ORPHA:1880 |
Tangier Disease |
|
Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Decreased circulati... |
OMIM:205400 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Hypercholesterolemia |
OMIM:618348 |
Digeorge Syndrome |
|
Sclerocornea, Posterior embryotoxon, Hypocalcemia |
OMIM:188400 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Heart murmur, Corneal opacity |
ORPHA:1867 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Corneal neovascularization, Neonatal death, Recurrent corneal erosions, Opacification ... |
OMIM:308205 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity |
OMIM:619339 |
Oculomaxillofacial Dysostosis |
|
Wide nasal bridge, Corneal opacity |
ORPHA:1794 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Pulmonary insufficiency, Right bundle branch block |
OMIM:619322 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... |
ORPHA:227990 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Sialidosis Type 1 |
|
Wide nasal bridge, Cataract, Corneal opacity |
ORPHA:812 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv... |
ORPHA:70591 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Short nose, Corneal opacity |
ORPHA:1234 |
Congenital Sialidosis Type 2 |
|
Cataract, Abnormal EKG, Telangiectasia, Developmental cataract, Corneal opacity |
ORPHA:93400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Scheie Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Corneal opacity |
OMIM:607016 |
Alagille Syndrome 1 |
|
Cataract, Microcornea, Band keratopathy, Axenfeld anomaly, Posterior embryotoxon, Hypercholestero... |
OMIM:118450 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Microcornea |
OMIM:607932 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Orthostatic hypotension, Corneal o... |
ORPHA:1764 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm... |
ORPHA:91495 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Hypoglycemia, Xanthelasma, Hyperlipidemia, Pulmonary venous hypertension, Hyperuricemi... |
ORPHA:79259 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... |
ORPHA:227982 |
Noonan Syndrome With Multiple Lentigines |
|
Wide nasal bridge, Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Myocardial infar... |
ORPHA:500 |
Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Posterior subcapsular cataract, Dilated cardiomyopathy, Left ventricular syst... |
ORPHA:273 |
Prader-Willi Syndrome |
|
Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes mellitus, Hypercholes... |
OMIM:176270 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypercholesterolemia, Hype... |
ORPHA:363618 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Long nose, Right bundle branch block, Short nose |
OMIM:618590 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Hypertension, Increased circulating cortisol level |
OMIM:615954 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity |
ORPHA:309288 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Elevated circulating creatine kinase concentration, Corneal opacity, Abnormal left v... |
OMIM:301056 |
Lowry-Maclean Syndrome |
|
Short nose, Corneal opacity, Developmental glaucoma, Megalocornea |
ORPHA:2409 |
Zellweger Syndrome |
|
Wide nasal bridge, Cataract, Posterior embryotoxon, Corneal opacity, Brushfield spots |
ORPHA:912 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... |
ORPHA:90674 |
Yunis-Varon Syndrome |
|
Cataract, Cardiomyopathy, Pulmonary arterial hypertension, Sclerocornea, Heart murmur |
OMIM:216340 |
Schimke Immuno-Osseous Dysplasia |
|
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Hyperlipidemia, Cerebral is... |
ORPHA:1830 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced left ventricular ejection fraction, Abnormal EKG, Right bundle branch block, Elevated cir... |
ORPHA:268 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Astigmatism |
OMIM:619471 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Hype... |
ORPHA:186 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Walker-Warburg Syndrome |
|
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Corneal opacity, Iris ... |
ORPHA:899 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity |
OMIM:607015 |
Mucolipidosis Type Iii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Corneal opacity |
ORPHA:423461 |
Lysosomal Acid Lipase Deficiency |
|
Hypotension, Xanthelasma, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hy... |
ORPHA:275761 |
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Corneal opacity |
OMIM:620469 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
Crimean-Congo Hemorrhagic Fever |
|
Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperitoneum, Bradyc... |
ORPHA:99827 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Developmental cataract, Corneal opacity |
OMIM:616603 |
Wagro Syndrome |
|
Cataract, Aniridia, Hypertension, Corneal opacity |
OMIM:612469 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... |
ORPHA:97214 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Distal Deletion 6P |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Hypoketotic hypoglycemia, Decre... |
ORPHA:228308 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Hurler Syndrome |
|
Aortic regurgitation, Wide nasal bridge, Cardiomyopathy, Mitral regurgitation, Corneal opacity, O... |
OMIM:607014 |
Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Cataract, Hyperaldosteronism, Abnormal pupil morphology, Hyponatremia, Hypokalemia, ... |
ORPHA:534 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Chronic active hepatitis |
OMIM:240300 |
Interatrial Communication |
|
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... |
ORPHA:1478 |
Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Hyperphosphatemia, Hypocalcemia, Corneal opacity |
ORPHA:2323 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity |
OMIM:253010 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Short nose |
ORPHA:2719 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Simpson-Golabi-Behmel Syndrome |
|
Wide nasal bridge, Cardiomyopathy, Hypoglycemia, Bundle branch block, Prolonged QT interval, Shor... |
ORPHA:373 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
Aortic Arch Interruption |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... |
ORPHA:2299 |
Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity |
ORPHA:1647 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Nestor-Guillermo Progeria Syndrome |
|
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... |
OMIM:614008 |
Immunodeficiency 47 |
|
Tricuspid regurgitation, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Microphthalmia/Coloboma 12 |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Mosaic Trisomy 9 |
|
Asplenia, Intrauterine growth retardation, Abnormal liver lobulation |
ORPHA:99776 |
Gm1 Gangliosidosis |
|
Congestive heart failure, Cardiomyopathy, Corneal opacity |
ORPHA:354 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Wide nasal bridge, Cataract, Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle ... |
OMIM:617403 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Corneal scarring, Elevated circulating creatine kinase... |
OMIM:309000 |
Hurler Syndrome |
|
Wide nasal bridge, Cardiomyopathy, Angina pectoris, Corneal opacity, Hypertension |
ORPHA:93473 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... |
ORPHA:391665 |
Incontinentia Pigmenti |
|
Cataract, Keratitis, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension... |
ORPHA:464 |
Tbck-Related Intellectual Disability Syndrome |
|
Wide nasal bridge, Pulmonic stenosis, Abnormal circulating lipid concentration, Corneal opacity |
ORPHA:488632 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... |
OMIM:617506 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... |
ORPHA:216694 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Leopard Syndrome 1 |
|
Hypertrophic cardiomyopathy, Bundle branch block, Third degree atrioventricular block, Pulmonic s... |
OMIM:151100 |
Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
Tangier Disease |
|
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia |
ORPHA:31150 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Farber Disease |
|
Opacification of the corneal stroma, Abnormal conjunctiva morphology, Corneal opacity |
ORPHA:333 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase concentration, Corne... |
OMIM:236670 |
Mucopolysaccharidosis, Type Vi |
|
Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral stenosis, Mitral regurgitation... |
OMIM:253200 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Short nose, Corneal opacity |
OMIM:601812 |
Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Corneal opacity |
ORPHA:579 |
Focal Dermal Hypoplasia |
|
Ectopia lentis, Hypoplasia of the iris, Telangiectasia of the skin, Corneal opacity, Iris coloboma |
ORPHA:2092 |
Fryns Syndrome |
|
Wide nasal bridge, Corneal opacity |
ORPHA:2059 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Corneal opacity |
OMIM:253220 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Atrioventricular block, Reduced left ventricular ejection fraction, Corneal opacity, Op... |
ORPHA:581 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short nose, Corneal opacity |
ORPHA:364577 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Posterior subcapsular cataract, Megalocornea, Short nose, Corneal opacity,... |
ORPHA:536471 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
OMIM:608940 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Mitral regurgitation, Astigmatism, Corneal opacity |
ORPHA:309282 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Annular pancreas, Polysplenia |
OMIM:164280 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Aortic regurgitation, Bidirectional shunt, Increased circulating ferritin concen... |
OMIM:619534 |
De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Intrauterine growth retardation, Sple... |
OMIM:249000 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Corneal opacity |
ORPHA:464311 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
Williams Syndrome |
|
Megalocornea, Type II diabetes mellitus, Mitral regurgitation, Posterior embryotoxon, Flat cornea... |
ORPHA:904 |
Heterotaxy, Visceral, 1, X-Linked |
|
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia |
OMIM:306955 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Insulin resistance, Left ventricular systolic dysfun... |
ORPHA:740 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Hyperalaninemia, Corneal ulceration, Elevated circulating alpha-fetoprotein conc... |
OMIM:615273 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Astigmatism, Corneal opacity |
ORPHA:464306 |
Encephalocraniocutaneous Lipomatosis |
|
Aortic valve stenosis, Pulmonary arterial hypertension, Iris coloboma, Corneal opacity |
ORPHA:2396 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Wide nasal bridge, Cardiomyopathy, Arrhythmia, Corneal opacity, Heart murmur, Hypertension |
ORPHA:217085 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Wide nasal bridge, Cardiomyopathy, Arrhythmia, Corneal opacity, Heart murmur, Hypertension |
ORPHA:217093 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Corneal opacity |
ORPHA:79396 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Cataract, Corneal opacity |
ORPHA:1052 |
Mucopolysaccharidosis Type 2 |
|
Wide nasal bridge, Cardiomyopathy, Arrhythmia, Corneal opacity, Hypertension |
ORPHA:580 |
Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Glycosuria, Kayser-Fleischer ring, Hyperbiliru... |
OMIM:277900 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Right bundle branch block |
OMIM:617402 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Asplenia, Annular pancreas, Pulmonary lymphangiectasia |
OMIM:265380 |
Peters Plus Syndrome |
|
Cataract, Microcornea, Peters anomaly, Short nose, Corneal opacity, Iris coloboma, Anterior chamb... |
ORPHA:709 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal dystrophy, Corneal opacity |
ORPHA:495875 |
Limb Body Wall Complex |
|
Lens subluxation, Wide nasal bridge, Iris coloboma, Corneal opacity |
ORPHA:2369 |
Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Developmental cataract, Cor... |
ORPHA:90348 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Gaucher Disease |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Pulmonary ... |
ORPHA:355 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Chime Syndrome |
|
Corneal opacity |
ORPHA:3474 |
Neurofibromatosis Type 1 |
|
Cataract, Heterochromia iridis, Lisch nodules, Corneal opacity, Hypertension |
ORPHA:636 |
Proboscis Lateralis |
|
Cataract, Microcornea, Iris coloboma, Corneal opacity |
ORPHA:141099 |
Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Corneal opacity |
ORPHA:2908 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Type II diabetes mellitus, Hypertriglyceridemia, Corneal opacity, Pulmonic stenosis |
ORPHA:3455 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Corneal opacity |
ORPHA:2072 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Cerebral hemorrhage, Corneal opacity |
ORPHA:666 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion |
ORPHA:2273 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Fraser Syndrome 1 |
|
Wide nasal bridge, Corneal opacity |
OMIM:219000 |
Roberts-Sc Phocomelia Syndrome |
|
Wide nasal bridge, Cataract, Corneal opacity, Stillbirth, Opacification of the corneal stroma |
OMIM:268300 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Asplenia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia |
ORPHA:261552 |