Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology |
ORPHA:543 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Heart block, Splenomegaly, Dilated cardiomyopathy, Atrioventricular block,... |
ORPHA:398124 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Lymphadenopathy |
ORPHA:100025 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Thymoma, Melena, Hypertension |
ORPHA:652 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy |
OMIM:603552 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Shortened QT interval |
ORPHA:143 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Congenital Toxoplasmosis |
|
Microphthalmia, Lymphadenopathy |
ORPHA:858 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Lymphadenopathy |
OMIM:212050 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Nephroblastoma |
|
Aniridia, Hypertension, Lymphadenopathy |
ORPHA:654 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:209950 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia |
OMIM:620282 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... |
OMIM:615559 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval |
OMIM:615351 |
Pleural Mesothelioma |
|
Abnormal cardiovascular system physiology, Lymphadenopathy |
ORPHA:50251 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Epistaxis, Hepatosplenomegaly |
OMIM:612840 |
Sickle Cell Anemia |
|
Abnormality of the spleen, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:232 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:79126 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Schnitzler Syndrome |
|
Splenomegaly, Vasculitis, Lymphadenopathy |
ORPHA:37748 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Tularemia |
|
Tachycardia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ly... |
ORPHA:3392 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Heme Oxygenase 1 Deficiency |
|
Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c... |
OMIM:614034 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:1528 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... |
OMIM:613179 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor... |
ORPHA:54251 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia |
OMIM:613327 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
American Trypanosomiasis |
|
Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopathy, Arrhythmia |
ORPHA:3386 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Splenic rupture, Internal hemorrhage |
ORPHA:335 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia |
ORPHA:290 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Lymphadenopathy |
ORPHA:69077 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Cinca Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly |
OMIM:607115 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Unilateral microphthalmos |
OMIM:615085 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... |
OMIM:170390 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hyperlipidemia, Lymphadenopathy |
ORPHA:79477 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr... |
OMIM:619750 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Refsum Disease |
|
Microphthalmia, Splenomegaly, Heart block, Cardiomyopathy |
ORPHA:773 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Pulmonary arterial hypertension |
OMIM:300887 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension, Lymphadenopathy |
ORPHA:79455 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Gracile Bone Dysplasia |
|
Asplenia, Microphthalmia, Hypoplastic spleen, Aniridia |
OMIM:602361 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop... |
OMIM:308240 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Leishmaniasis |
|
Splenomegaly, Hypoalbuminemia, Lymphadenopathy |
ORPHA:507 |
Seckel Syndrome 2 |
|
Microphthalmia, Heart murmur |
OMIM:606744 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Lymphadenopathy |
ORPHA:424019 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Prolonged QTc interval |
ORPHA:231111 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Arrhythmia |
ORPHA:480864 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia |
ORPHA:3191 |
Carcinoid Syndrome |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart ... |
ORPHA:100093 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia |
OMIM:602501 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Lissencephaly 8 |
|
Microphthalmia |
OMIM:617255 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen... |
OMIM:603909 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy |
ORPHA:83313 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Melena... |
ORPHA:100080 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... |
OMIM:613011 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
Griscelli Syndrome |
|
Splenomegaly, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Scrub Typhus |
|
Myocarditis, Splenomegaly, Hypotension, Lymphadenopathy |
ORPHA:83317 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval |
ORPHA:94090 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:71212 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia, Abnormal spleen morphology |
ORPHA:2470 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension, Optic nerve hypoplasia |
OMIM:620029 |
Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... |
ORPHA:139411 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:618048 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... |
ORPHA:79102 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly |
OMIM:619644 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato... |
ORPHA:100082 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Hypotension, Lymphadenopathy |
ORPHA:79456 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c... |
OMIM:619802 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Myocarditis, Lymphadenopathy, Bone marrow hypocellularity, Hypotensio... |
ORPHA:549 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Lymphadenopathy, Hepatosplenomeg... |
ORPHA:98850 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval |
OMIM:300352 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
OMIM:603553 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... |
ORPHA:358 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia |
OMIM:214150 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Adult-Onset Still Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:829 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad... |
ORPHA:97289 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Monosomy 18P |
|
Microphthalmia, Hypertension |
ORPHA:1598 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia |
OMIM:218340 |
Castleman Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... |
ORPHA:160 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly |
ORPHA:824 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:617244 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Cinca Syndrome |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:1451 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Pulmonic stenosis |
OMIM:618914 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopathy, Lymphadenopa... |
ORPHA:199241 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy |
ORPHA:370959 |
Bresek Syndrome |
|
Microphthalmia, Optic nerve hypoplasia |
ORPHA:85284 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Palpit... |
ORPHA:97287 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Vasculitis, Lymphadenopathy |
ORPHA:343 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia |
ORPHA:1438 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Lymphadenopathy, Palpitations,... |
ORPHA:100078 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Vitreoretinochoroidopathy |
|
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis... |
ORPHA:809 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microphthalmia, Bone marrow hypocellularity |
OMIM:609053 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
ORPHA:540 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Congestive heart failure, Lymphadenopathy, H... |
OMIM:615895 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Aortic valve stenosis |
OMIM:243310 |
Felty Syndrome |
|
Splenomegaly, Pericarditis, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia |
OMIM:614219 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Telangiectasia, Hepatosplenomegaly |
ORPHA:93400 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia |
OMIM:310200 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:1332 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization |
ORPHA:891 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy |
ORPHA:142 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:152950 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia |
OMIM:618494 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Small vessel vasculitis, Lymphadenopathy |
ORPHA:36412 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Splenomegaly, Cardiomyopathy, Polysplenia |
ORPHA:373 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval |
ORPHA:94089 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemate... |
ORPHA:100075 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Cardiac arrest, Lymphadenopathy |
ORPHA:139402 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Hematochezia, Subconjunctival hemorrhage, ... |
OMIM:617718 |
Dextrocardia |
|
Abnormality of the spleen, Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:617099 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100026 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Splenomegaly, Congestive heart failure, Vasculitis, Retin... |
ORPHA:33226 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Microphthalmia, Hypertension |
OMIM:614424 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Meckel Syndrome, Type 5 |
|
Microphthalmia |
OMIM:611561 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Martsolf Syndrome 1 |
|
Microphthalmia, Congestive heart failure, Cardiac arrest, Cardiomyopathy |
OMIM:212720 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Lymphadenopathy |
ORPHA:99812 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:228390 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Pulmonic stenosis |
ORPHA:435638 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Hypertriglyceridemia, Lymphadenopathy |
OMIM:617591 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval |
ORPHA:79444 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension |
ORPHA:79443 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Congestive heart failure |
ORPHA:2505 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Heart murmur |
ORPHA:2728 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Diffuse alveolar hemorrhage, Lymphadenopathy |
ORPHA:520 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Macular hypoplasia, Spontaneous, recurrent epistaxis, Lymphadenopathy |
OMIM:214500 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Microphthalmia, Pulmonary arterial hypertension, Portal hypertension |
ORPHA:974 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis |
ORPHA:529962 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Graft Versus Host Disease |
|
Tachycardia, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Elevated circulating creati... |
ORPHA:449395 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos |
ORPHA:369891 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Splenomegaly, Lymphadenopathy, Syncope, Hypotension |
ORPHA:98849 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
OMIM:616449 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Vasculitis, Myocarditis, Abn... |
ORPHA:50918 |
Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
Stromme Syndrome |
|
Accessory spleen, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye |
ORPHA:91495 |
Meckel Syndrome, Type 2 |
|
Microphthalmia |
OMIM:603194 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly |
OMIM:618986 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Lymphadenopathy |
ORPHA:93552 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Pulmonary hemorrhage, Portal hypertension, Hepatosplenomegaly |
ORPHA:79124 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Q Fever |
|
Pericarditis, Splenomegaly, Myocarditis, Vasculitis, Lymphadenopathy, Abnormal left ventricular f... |
ORPHA:781 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema |
OMIM:221900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Lymphadenopathy, He... |
ORPHA:99827 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia |
OMIM:612530 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Mosaic Trisomy 9 |
|
Asplenia, Microphthalmia |
ORPHA:99776 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Pulmonic stenosis, Hypoplastic spleen |
OMIM:601186 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Meckel Syndrome, Type 4 |
|
Microphthalmia |
OMIM:611134 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Pulmonic stenosis, F... |
OMIM:602782 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Pulmonic stenosis |
OMIM:619148 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:37042 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Raynaud phenomenon, Splenomegaly, Dilated cardiomyopathy, Vasculitis, Lympha... |
OMIM:615688 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval |
ORPHA:86309 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
Familial Mediterranean Fever |
|
Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Lymphadenopathy, Arrhythmia |
ORPHA:342 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis |
OMIM:253800 |
H Syndrome |
|
Abnormal cardiovascular system physiology, Lymphadenopathy, Facial telangiectasia, Hepatosplenome... |
ORPHA:168569 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:603467 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia |
ORPHA:3301 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Telangiectasia |
OMIM:601675 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
Meckel Syndrome 14 |
|
Microphthalmia, Mitral regurgitation, Tricuspid regurgitation |
OMIM:619879 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
ORPHA:65286 |
Holoprosencephaly |
|
Microphthalmia, Abnormality of the spleen, Arrhythmia, Anophthalmia |
ORPHA:2162 |
Common Variable Immunodeficiency |
|
Splenomegaly, Vasculitis, Lymphadenopathy |
ORPHA:1572 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia |
OMIM:619418 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
OMIM:153400 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype... |
ORPHA:464 |
Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper... |
OMIM:609049 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
Atelis Syndrome 2 |
|
Microphthalmia, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis |
OMIM:620185 |
Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Hypertension |
OMIM:617729 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Lymphadenopathy |
ORPHA:2905 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
ORPHA:167 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Hypertension, Myocardial infarction |
ORPHA:881 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Pulmonary arterial hypertension |
ORPHA:464738 |
Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Lymphadenopathy |
ORPHA:424016 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
Frontonasal Dysplasia 2 |
|
Microphthalmia |
OMIM:613451 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia |
OMIM:302960 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Cockayne Syndrome B |
|
Splenomegaly, Hypoplasia of the iris, Hypertension, Microphthalmia, Arrhythmia |
OMIM:133540 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma |
ORPHA:2136 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:227645 |
Cockayne Syndrome Type 3 |
|
Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, ... |
ORPHA:90324 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Microphthalmia, Pulmonary arterial hypertension, Portal hypertension |
OMIM:620005 |
Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction |
ORPHA:268 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Raynaud phenomenon, Lymphadenopathy |
OMIM:607944 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Telangiectasia of the skin |
ORPHA:2092 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Mosaic Trisomy 1 |
|
Microphthalmia |
ORPHA:1692 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Cohen Syndrome |
|
Microphthalmia |
ORPHA:193 |
Selective Igm Deficiency |
|
Raynaud phenomenon, Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Frontorhiny |
|
Microphthalmia |
ORPHA:391474 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:1333 |
Duane-Radial Ray Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
OMIM:607323 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
Joubert Syndrome 2 |
|
Microphthalmia |
OMIM:608091 |
Coccidioidomycosis |
|
Pericarditis, Abnormality of the spleen, Mediastinal lymphadenopathy, Vasculitis, Lymphadenopathy... |
ORPHA:228123 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:251300 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Splenomegaly, Pericarditis, Vasculitis, Lymphadenopathy |
ORPHA:32960 |
Pseudotrisomy 13 Syndrome |
|
Microphthalmia |
OMIM:264480 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Aortic valve stenosis |
OMIM:272950 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymphadenopathy, Subconjun... |
ORPHA:509 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system,... |
ORPHA:538 |
Fryns Syndrome |
|
Microphthalmia |
ORPHA:2059 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:614083 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Vasculitis, Lymphadenopathy, ... |
ORPHA:3261 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage |
OMIM:308300 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia |
OMIM:601812 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia |
OMIM:236670 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Oculoauricular Syndrome |
|
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia |
OMIM:612109 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Cat Eye Syndrome |
|
Microphthalmia, Pulmonic stenosis |
OMIM:115470 |
Oculodentodigital Dysplasia |
|
Microphthalmia, Arrhythmia |
OMIM:164200 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the tonsils, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:567 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:227646 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:619534 |
Kawasaki Disease |
|
Pericarditis, Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Vasculitis, Arrhyt... |
ORPHA:2331 |
Treacher-Collins Syndrome |
|
Microphthalmia, Hypoplasia of the thymus |
ORPHA:861 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:250989 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos |
ORPHA:2839 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ... |
ORPHA:2556 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia |
OMIM:600901 |
Cousin Syndrome |
|
Microphthalmia |
OMIM:260660 |
Trisomy 18 |
|
Microphthalmia |
ORPHA:3380 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:223370 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Microphthalmia, Optic nerve hypoplasia |
ORPHA:508498 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Fanconi Anemia, Complementation Group A |
|
Microphthalmia |
OMIM:227650 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... |
ORPHA:797 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy |
ORPHA:667 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Congestive heart failure |
ORPHA:2108 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia |
OMIM:616300 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Meckel Syndrome, Type 1 |
|
Asplenia, Splenomegaly, Microphthalmia, Accessory spleen |
OMIM:249000 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Splenomegaly, Myocarditis, Congestive heart failure, Hepatosplenomega... |
ORPHA:3385 |
Immunodeficiency 31C |
|
Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Jacobsen Syndrome |
|
Microphthalmia, Macular hypoplasia |
OMIM:147791 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Chikungunya |
|
Raynaud phenomenon, Cervical lymphadenopathy, Epistaxis, Lymphadenopathy |
ORPHA:324625 |
Pallister-Hall Syndrome |
|
Microphthalmia |
OMIM:146510 |
Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia |
OMIM:273395 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
Degcags Syndrome |
|
Tachycardia, Hepatosplenomegaly, Pulmonary arterial hypertension, Abnormal spleen morphology, Pul... |
OMIM:619488 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Microphthalmia |
ORPHA:1052 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Telangiectasia |
OMIM:268400 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Aplasia of the thymus, Pulmonary arterial hypertension |
OMIM:620186 |
Cockayne Syndrome |
|
Microphthalmia, Splenomegaly, Hypertension, Retinal hemorrhage |
ORPHA:191 |
Fryns Syndrome |
|
Microphthalmia, Polysplenia |
OMIM:229850 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia |
ORPHA:268249 |
Monosomy 9Q22.3 |
|
Microphthalmia |
ORPHA:77301 |
Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... |
OMIM:619381 |
Brucellosis |
|
Pericarditis, Transient ischemic attack, Hypersplenism, Splenomegaly, Myocarditis, Lymphadenopath... |
ORPHA:1304 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension, Lymphadenopathy |
ORPHA:536 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia |
OMIM:109400 |
Trichothiodystrophy |
|
Cardiomyopathy, Bilateral microphthalmos |
ORPHA:33364 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, Aortic valve st... |
OMIM:100300 |
Mend Syndrome |
|
Microphthalmia, Aortic valve stenosis |
ORPHA:401973 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Myhre Syndrome |
|
Microphthalmia, Aortic valve stenosis, Hypertension |
OMIM:139210 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Hypertrophic cardiomyopathy |
ORPHA:84 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Blau Syndrome |
|
Pericarditis, Splenomegaly, Large vessel vasculitis, Lymphadenopathy, Hypertension, Pulmonary art... |
ORPHA:90340 |
Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microphthalmia |
OMIM:616975 |
Steinfeld Syndrome |
|
Microphthalmia |
OMIM:184705 |
Oculocerebrorenal Syndrome Of Lowe |
|
Buphthalmos, Microphthalmia |
ORPHA:534 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Renovascular hypertension, Hypertension, Pulmonary arterial hypertensio... |
ORPHA:3472 |
Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Plague |
|
Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Hypotensio... |
ORPHA:707 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia |
ORPHA:2166 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Phthisis bulbi, Pulmonic stenosis, Microphthalmia, Aortic valve stenosis |
OMIM:300166 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos |
OMIM:610828 |
Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
Aicardi Syndrome |
|
Microphthalmia |
OMIM:304050 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
Fontaine Progeroid Syndrome |
|
Microphthalmia, Tricuspid regurgitation, Pulmonary arterial hypertension |
OMIM:612289 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
Primary Sjögren Syndrome |
|
Raynaud phenomenon, Vasculitis, Arteritis, Lymphadenopathy |
ORPHA:289390 |
Igg4-Related Submandibular Gland Disease |
|
Lymphadenopathy |
ORPHA:449432 |
Igg4-Related Ophthalmic Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:449563 |
Roberts Syndrome |
|
Microphthalmia |
ORPHA:3103 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina |
OMIM:253280 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Charge Syndrome |
|
Anophthalmia, Unilateral microphthalmos, Pulmonic stenosis, Microphthalmia, Aplasia/Hypoplasia of... |
OMIM:214800 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia |
ORPHA:3186 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Myocardial infarction, Neoplasm of the thymus, Abnormal lymph node morphology, Hypertension, Capi... |
ORPHA:99889 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia, Telangiectasia |
OMIM:305600 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:138 |
Fraser Syndrome 1 |
|
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos |
OMIM:219000 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Microphthalmia |
OMIM:612474 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Microphthalmia |
OMIM:236680 |
Monosomy 13Q14 |
|
Microphthalmia |
ORPHA:1587 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,... |
OMIM:175780 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Lymphadenopathy |
ORPHA:79078 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia |
OMIM:613884 |
Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma |
OMIM:619539 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Ectopic thymus tissue, Anophthalmia |
OMIM:113620 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Witteveen-Kolk Syndrome |
|
Intracranial hemorrhage, Microphthalmia |
OMIM:613406 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia |
OMIM:256520 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:508488 |
Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Pallister-Hall Syndrome |
|
Microphthalmia |
ORPHA:672 |
Mowat-Wilson Syndrome |
|
Microphthalmia, Pulmonic stenosis |
OMIM:235730 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Microphthalmia |
OMIM:268300 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Microphthalmia, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:261537 |
Holoprosencephaly 1 |
|
Microphthalmia |
OMIM:236100 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Hyphema, Pulmonic stenosis, Microphthalmia, Aortic valve stenosis |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Asplenia, Microphthalmia, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:2152 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Holoprosencephaly 2 |
|
Microphthalmia |
OMIM:157170 |
Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |