His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
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 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly, Corneal opacity, Microcornea |
ORPHA:2432 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Nephrocalcinosis, Ca... |
ORPHA:769 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchid... |
OMIM:613730 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp... |
ORPHA:858 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Developmental c... |
OMIM:618815 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Enlarged polycystic ovar... |
ORPHA:2298 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93476 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicour... |
ORPHA:2745 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... |
ORPHA:2869 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the ... |
ORPHA:2611 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ... |
ORPHA:335 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uter... |
OMIM:615524 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy... |
ORPHA:508 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Microphthalmia, Posterio... |
ORPHA:1473 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract, Hypogonadism |
ORPHA:2528 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati... |
OMIM:603552 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Opacification of the corneal... |
ORPHA:1643 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Elevated circulating growth hor... |
ORPHA:562 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Renal tubular dysfunction... |
ORPHA:213 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Sialidosis Type 2 |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Nephropathy, Ascites |
ORPHA:87876 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:613153 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ab... |
ORPHA:99776 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Abnormal aortic valve morphology, Corneal opacity |
ORPHA:577 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis |
OMIM:268650 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... |
ORPHA:2470 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peters anomaly, Atrial septal ... |
OMIM:618652 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... |
ORPHA:400 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Hepatocellular carcinoma, Hypercalciuria, ... |
ORPHA:2088 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity |
ORPHA:2370 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia |
ORPHA:1466 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hy... |
OMIM:620010 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic sei... |
OMIM:146200 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro... |
OMIM:256550 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ... |
ORPHA:281090 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, A... |
OMIM:616026 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Abnormal external genitalia, Ventricular septal defect |
ORPHA:3469 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, 3-Methylglutaco... |
ORPHA:496790 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Preeclampsia |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Polycystic ov... |
ORPHA:275555 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy |
OMIM:608540 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia |
OMIM:616171 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope... |
OMIM:619743 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Intrahepatic cholestasis, ... |
OMIM:227810 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthal... |
OMIM:613885 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries |
ORPHA:488191 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Developmental cataract, Retinal calc... |
OMIM:127000 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Cataract, Cryptorchidism, Abnormality of the ureter, Opt... |
ORPHA:3378 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... |
OMIM:600118 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Abnormal heart morphology... |
ORPHA:1867 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Hypospadias, Cor... |
ORPHA:912 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Hyperphosp... |
ORPHA:2323 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... |
ORPHA:363741 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia |
ORPHA:1046 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Abnormal blood ion concen... |
ORPHA:31824 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Optic nerve hypoplasia, Corneal opacity, El... |
OMIM:301056 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Ambiguous genitalia, Adrenal hyperpla... |
ORPHA:95699 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Microphthalmi... |
OMIM:618805 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Alpha-Mannosidosis |
|
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity |
ORPHA:61 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcem... |
ORPHA:99880 |
Mucolipidosis Iv |
|
Corneal opacity, Abnormal abdomen morphology, Optic atrophy, Opacification of the corneal stroma,... |
OMIM:252650 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig... |
OMIM:253250 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Vag... |
OMIM:619318 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal... |
OMIM:264700 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Aniridia, Microphthalmia, Micropenis, Ascites |
OMIM:602361 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Retinal detachment, Corneal opacity, Isosexual precocious puberty |
ORPHA:2788 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcem... |
ORPHA:143 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Po... |
ORPHA:3085 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal heart morphology, Hepatosplenome... |
ORPHA:93399 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Corneal opacity, Cataract |
ORPHA:317 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentratio... |
OMIM:614034 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism,... |
ORPHA:899 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... |
ORPHA:2969 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... |
OMIM:156400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Cataract, Jaundice, Chronic kidney disease, Hypermagnesemia, H... |
ORPHA:469 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal heart m... |
ORPHA:93400 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypospadias, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Nephrolithiasis, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... |
OMIM:241410 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Adrenocorticotrop... |
ORPHA:100083 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conjunctivit... |
ORPHA:36913 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
OMIM:615297 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H... |
ORPHA:667 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Hypoplastic le... |
OMIM:601186 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:35612 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Microphthalmia, Cataract, Ventricular septal defect |
ORPHA:93267 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia |
OMIM:601794 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Abnormal heart morphology,... |
ORPHA:494344 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Lenticonus, Stage 5 chronic kidney disease,... |
OMIM:104200 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypophosph... |
OMIM:612089 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism, Micropenis, Microcornea |
OMIM:602342 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinos... |
ORPHA:534 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp... |
OMIM:609053 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan... |
ORPHA:1655 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o... |
ORPHA:54251 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Low urinary cy... |
OMIM:612462 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... |
ORPHA:860 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Microcornea, As... |
OMIM:152950 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Splenomegaly, Increa... |
ORPHA:812 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Corneal crystals, Abnormal blood ion concentration, Hypophosphatemia, Renal tu... |
ORPHA:411629 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy... |
ORPHA:2348 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat... |
OMIM:618886 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Sclerocornea, Cryptorc... |
ORPHA:77298 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism, Microcornea |
ORPHA:487825 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... |
ORPHA:744 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... |
ORPHA:314473 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H... |
ORPHA:79083 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... |
OMIM:602782 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Developmental cataract, Corneal opacity |
OMIM:617183 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Access... |
ORPHA:564 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Secondary hyperparathyroidism, Hypophosphatemia |
OMIM:277440 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly |
ORPHA:309288 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypoplastic labia majora, Retinal coloboma, Micro... |
ORPHA:2328 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH... |
OMIM:603233 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:616428 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Cataract, Enlarged polycystic ovaries, Adenoma ... |
ORPHA:201 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia,... |
ORPHA:79312 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Sclerocornea, Ovotestis, Cataract, Hypo... |
OMIM:309801 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cataract, Iris coloboma |
OMIM:120433 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Elevated circulating growth ho... |
ORPHA:249 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, H... |
OMIM:307800 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria, Optic atrophy |
OMIM:274270 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Splenomegaly, Cardiomyopathy,... |
ORPHA:773 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Classic Mycosis Fungoides |
|
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal... |
ORPHA:289157 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, ... |
ORPHA:85284 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... |
OMIM:618494 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Low urinary cyclic AMP respo... |
OMIM:103580 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism, Microcornea |
OMIM:601349 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, ... |
OMIM:613001 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism |
OMIM:203330 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis |
OMIM:179700 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti... |
OMIM:603903 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Elevated circulating creatine kina... |
ORPHA:1652 |
Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Enlarged tonsils... |
OMIM:607014 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:619185 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... |
ORPHA:31150 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... |
ORPHA:381 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnorma... |
OMIM:266500 |
Kapur-Toriello Syndrome |
|
Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, ... |
OMIM:244300 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Corneal opacity, Splenomegaly, Optic atrophy, Abnormal heart morpholog... |
ORPHA:354 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat... |
ORPHA:353298 |
Lowry-Maclean Syndrome |
|
Hypospadias, Corneal opacity, Bilateral cryptorchidism, Abnormality of the abdominal organs, Deve... |
ORPHA:2409 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, L... |
OMIM:607115 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Developmental... |
OMIM:613155 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity |
ORPHA:93474 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... |
OMIM:614702 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Cataract, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... |
OMIM:614222 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Cryptorchidism, Abnormal cardiac sept... |
ORPHA:2059 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... |
ORPHA:3097 |
Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia |
OMIM:251270 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract |
ORPHA:324416 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat... |
OMIM:619644 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Microphtha... |
OMIM:617914 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res... |
ORPHA:94090 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:139471 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis |
OMIM:610756 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... |
ORPHA:2510 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest |
ORPHA:49827 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... |
ORPHA:314478 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Atrial septal defect, Microphthalmia, Tetralogy of Fa... |
OMIM:300887 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly |
OMIM:610023 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia... |
OMIM:615663 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... |
OMIM:616860 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplastic labia... |
OMIM:614225 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia |
ORPHA:75563 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration |
OMIM:272200 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Cold Agglutinin Disease |
|
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Hypocalcemi... |
ORPHA:93325 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... |
OMIM:618052 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... |
OMIM:214900 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R... |
OMIM:221900 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... |
OMIM:616651 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... |
OMIM:610125 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Mic... |
ORPHA:3301 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma |
OMIM:300915 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate... |
OMIM:607015 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... |
ORPHA:549 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp... |
ORPHA:2237 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... |
ORPHA:650 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Vesicour... |
OMIM:603467 |
Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Kayser-Fleischer ring, Cirrhos... |
ORPHA:905 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Corneal opacity, Thrombocytopenia, Lymphadenopat... |
ORPHA:333 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma |
OMIM:614497 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... |
ORPHA:284160 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... |
OMIM:243605 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Hydronephrosis |
ORPHA:195 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria |
ORPHA:349 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splenomegaly, Optic... |
ORPHA:579 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... |
OMIM:228300 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalm... |
ORPHA:2556 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Elevated circulating creatine kinase ... |
OMIM:610377 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Subcapsular cataract, Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron... |
OMIM:606003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Peters an... |
OMIM:236670 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma |
OMIM:308100 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, External genital hypoplasia, Precocious puberty, Cryptorc... |
OMIM:201000 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia |
ORPHA:69077 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hyperphosphaturia, Transient aminoaciduria, Jaundice, Bicarbonaturia, Proximal rena... |
OMIM:229600 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia |
OMIM:164180 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
ORPHA:370959 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Cryptorchidism, Micropenis, Microphthalmia, Aortic valve stenosis, Iris co... |
OMIM:243310 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Hydroureter |
ORPHA:2547 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Microcornea, Atrial septal defect, Microphthalm... |
OMIM:616449 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Abnormality of the ureter, Ventricular septal defect, Polycystic ovaries |
ORPHA:1770 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis,... |
OMIM:614866 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cataract, Decreased response to growth hormone stimulation test, Pseudohypoparathyroi... |
ORPHA:94089 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... |
ORPHA:36412 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise... |
OMIM:201475 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Micropht... |
ORPHA:85194 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Biliary tract abnor... |
OMIM:209900 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... |
OMIM:264480 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Corneal opacity |
OMIM:166300 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
OMIM:615181 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... |
ORPHA:435660 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia, Ventricular septal defect |
OMIM:602501 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... |
ORPHA:829 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Splenomegaly, Hepatitis, Mucopolysacchariduria, Ascites |
ORPHA:584 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve ... |
ORPHA:371428 |
Wagro Syndrome |
|
Cataract, Proteinuria, Corneal opacity, Aniridia, Hypoplastic female external genitalia, Decrease... |
OMIM:612469 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... |
ORPHA:99812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Renal insufficiency, Cataract, Elevated circulating creatine ... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... |
OMIM:615630 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Papillorenal Syndrome |
|
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal cortico... |
OMIM:120330 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... |
OMIM:619750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... |
OMIM:604367 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration ... |
ORPHA:391428 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, J... |
OMIM:603553 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... |
ORPHA:581 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel... |
OMIM:246200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Nephrotic syndrom... |
OMIM:617713 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, R... |
OMIM:600901 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension |
OMIM:610293 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... |
OMIM:277900 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Proteinuria, Corneal opacity, Minimal change glomerulonephritis, Thrombocytopenia, H... |
ORPHA:1830 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Corneal opacity, Precocious puberty, Horseshoe kidney, Hypophosphatemic rickets |
OMIM:163200 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, As... |
OMIM:616897 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalciuria, Developmental cataract... |
OMIM:618440 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... |
ORPHA:93473 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... |
ORPHA:97289 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia, Renal hypoplasia |
OMIM:615665 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Cryptorchidism, Abnormal heart morphology, Microcornea, Opacification of the corneal... |
OMIM:601499 |
Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... |
ORPHA:251066 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ureteral stenosis, Corneal opacity, Cataract, Cryptorchidism, Ocular albinism, Aplasia/Hypoplasia... |
ORPHA:2719 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, Opacification of the corneal... |
OMIM:251290 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di... |
OMIM:615895 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydro... |
ORPHA:79330 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... |
OMIM:614921 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive... |
ORPHA:160 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... |
OMIM:194380 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... |
OMIM:235255 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplas... |
OMIM:300755 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Cryptorchidism, Optic atrophy, Blue irides, Hyperphosphatemia, Hypogon... |
OMIM:101800 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hyperammonemia |
ORPHA:664 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm |
OMIM:617883 |
Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal pigment epithelial atrophy, Astigmatism, Opacification of the corne... |
OMIM:270200 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La... |
OMIM:269700 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Cardiomy... |
ORPHA:79086 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, M... |
ORPHA:3191 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
H Syndrome |
|
Hypertriglyceridemia, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Cornea... |
ORPHA:168569 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... |
ORPHA:99429 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, R... |
OMIM:227650 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... |
ORPHA:98850 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Bilateral cryptorchidism, Abdominal adhesions, Developmental cataract, Neutropenia, Mic... |
OMIM:616395 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... |
ORPHA:39041 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Heparan sulfate excretion in urin... |
OMIM:253220 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Renal hypop... |
OMIM:219000 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Ambiguous genitalia, Corneal opacity, Vaginal neoplasm, Cataract, A... |
ORPHA:1052 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
ORPHA:79444 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati... |
ORPHA:540 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Popliteal pterygium, Corneal opacity, Hypoplastic male external genitalia |
ORPHA:1234 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Microphthalmia, Iris ... |
ORPHA:231736 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Nephrol... |
OMIM:608594 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Mitral valve prolapse, Microcornea, Abnormal cardia... |
ORPHA:2712 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... |
ORPHA:168558 |
Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis |
OMIM:248700 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Decreased circulating renin level, Premature thelarche, Renal salt wasting,... |
ORPHA:90795 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Ectopic kidney, Thromboc... |
OMIM:227645 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypo... |
OMIM:147791 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Atrial septal defect, M... |
ORPHA:2728 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Cataract, Retinal pigment epithel... |
OMIM:614105 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism |
ORPHA:280062 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Scrub Typhus |
|
Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Ventricular septal defect, Ante... |
OMIM:206900 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Ventricular septal defect, Hypospadias, Unilateral renal a... |
ORPHA:464311 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cryptorchidism, Cataract |
OMIM:214150 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Opacification of the corneal stroma |
ORPHA:461 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... |
ORPHA:289548 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Cataract, Ventricular septal defect, Eosinophilia, Corneal opacity, Pancrea... |
OMIM:274000 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a... |
OMIM:146255 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... |
ORPHA:169090 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... |
OMIM:615877 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthalmia |
OMIM:611134 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Cataract, Cryptorchidism, Optic disc coloboma, Microcornea, Microphthal... |
ORPHA:568 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Tetralogy of Fallot, Cataract |
OMIM:136760 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Microphthalmia, Iri... |
OMIM:212550 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia |
ORPHA:2505 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Cryp... |
OMIM:620005 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... |
OMIM:215250 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, O... |
ORPHA:369891 |
Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Mucopolysacchariduria, Abnormal heart valve morphology, Opacification of the cornea... |
ORPHA:583 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Aniridia, Lymphadenopathy |
ORPHA:654 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
ORPHA:79443 |
Sézary Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell... |
ORPHA:47612 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Retinal atrophy, Unilateral r... |
ORPHA:90324 |
Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous genitalia, Microp... |
OMIM:619879 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
Short Syndrome |
|
Rieger anomaly, Cataract, Ovarian cyst, Astigmatism, Megalocornea |
OMIM:269880 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Splenomegaly, Mediastinal lympha... |
ORPHA:91138 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Fabry Disease |
|
Abnormal endocardium morphology, Conjunctival telangiectasia, Renal insufficiency, Cataract, Prot... |
ORPHA:324 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... |
OMIM:214500 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Pericarditis, Hemolytic anemia, Splenomegaly, Myocarditis, Mediastinal lymphadenopa... |
ORPHA:809 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
Nance-Horan Syndrome |
|
Microphthalmia, Retinal detachment, Cataract, Microcornea |
ORPHA:627 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy... |
ORPHA:2035 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Polycy... |
ORPHA:280365 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... |
OMIM:273395 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal de... |
OMIM:214100 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Abnormality of the lymphatic system, Optic atrophy, Abnormal morphology o... |
ORPHA:538 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Anophthalmia, Abnormalit... |
ORPHA:2538 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, A... |
OMIM:227646 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Anterior pi... |
ORPHA:464306 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Hydrolethalus |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Hypercalciuria, Hyperph... |
OMIM:239000 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Optic atrophy, A... |
ORPHA:991 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal d... |
OMIM:229850 |
Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot,... |
ORPHA:3320 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo... |
ORPHA:217085 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinop... |
OMIM:193220 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... |
OMIM:249000 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Pancre... |
ORPHA:464329 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
3Mc Syndrome 3 |
|
Bifid scrotum, Corneal opacity, Cryptorchidism, Horseshoe kidney, Micropenis, Penoscrotal hypospa... |
OMIM:248340 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, External genital hypoplasia, Unilateral renal agenesis, ... |
ORPHA:141099 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Vesicoureteral reflux, Atrial ... |
ORPHA:567 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis |
OMIM:614230 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Cryptorchidism, Microco... |
ORPHA:3380 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... |
ORPHA:2729 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo... |
ORPHA:217093 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, ... |
OMIM:612109 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... |
OMIM:232300 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas... |
OMIM:620306 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, ... |
ORPHA:580 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinos... |
OMIM:617913 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... |
ORPHA:79456 |
Martsolf Syndrome 1 |
|
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Cardiomyopathy, ... |
OMIM:212720 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Opacification of t... |
ORPHA:1692 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Corneal opacity, Iris coloboma |
ORPHA:1647 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Cowden Syndrome 1 |
|
Cataract, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Goiter |
OMIM:158350 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Hyponatremia, Renal insufficiency, Corneal opacity, Abnormal pupi... |
ORPHA:1764 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Mitral valve calcification, Pancytopenia, Corneal opacity, Splenomegaly, Aortic valv... |
ORPHA:2072 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion... |
OMIM:253010 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... |
ORPHA:79102 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Cockayne Syndrome |
|
Urinary incontinence, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy, Cryptorch... |
ORPHA:191 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ventricular septal defect, Corneal opacity, Ectopia lentis, Horsesh... |
ORPHA:2092 |
Cat Eye Syndrome |
|
Ventricular septal defect, Biliary atresia, Vesicoureteral reflux, Horseshoe kidney, Hypoplastic ... |
OMIM:115470 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1777 |
Digeorge Syndrome |
|
Renal insufficiency, Posterior embryotoxon, Ventricular septal defect, Parathyroid agenesis, Unil... |
OMIM:188400 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Cryptorchidism, Hypoplas... |
ORPHA:495875 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... |
ORPHA:781 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity |
ORPHA:1794 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy,... |
OMIM:619418 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Hypersplenism, Throm... |
ORPHA:77259 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Abnormal heart morphology, Astigmatism, Retinal coloboma, Microphthalmia |
OMIM:618571 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract, Optic atrophy, Microcytic anemia |
OMIM:612379 |
Eisenmenger Syndrome |
|
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... |
ORPHA:97214 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Dev... |
OMIM:618804 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Ectopia p... |
ORPHA:85167 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk... |
ORPHA:32960 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis |
ORPHA:1064 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary va... |
ORPHA:2162 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... |
OMIM:609049 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia |
ORPHA:2399 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Cryptorchidism, Abnormal cardiac septum morphology, Vesicoureteral reflux, Microphthalm... |
ORPHA:250989 |
Graft Versus Host Disease |
|
Tachycardia |
ORPHA:39812 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Microphthal... |
OMIM:615249 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Adams-Oliver Syndrome |
|
Cataract, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, ... |
ORPHA:974 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Poems Syndrome |
|
Papilledema, Pericardial effusion, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycy... |
ORPHA:2905 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia... |
ORPHA:84 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Ventricular septal defect, Pigmentary retinopathy, Axenfeld anomaly, Opaci... |
OMIM:612582 |
Brachyolmia Type 1, Toledo Type |
|
Increased urinary disaccharide excretion, Opacification of the corneal stroma |
OMIM:271630 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism, Small scrotum, Hypogonadism |
ORPHA:228390 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
3Q29 Microdeletion Syndrome |
|
Cataract, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis, Microphthalmia |
ORPHA:65286 |
Chops Syndrome |
|
Cataract, Ventricular septal defect, Splenomegaly, Cryptorchidism, Optic atrophy, Anomalous pulmo... |
OMIM:616368 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Conjunctivit... |
OMIM:617591 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati... |
ORPHA:167 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Developmental cataract, Microcornea, Male urethral meatus... |
ORPHA:464738 |
Cowden Syndrome 6 |
|
Cataract, Hydrocele testis, Ovarian cyst, Varicocele, Goiter |
OMIM:615109 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... |
OMIM:614083 |
Lathosterolosis |
|
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol... |
OMIM:607330 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cryptorchidism, Atrioventricular canal defect |
OMIM:619135 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pulmonic stenosis, Left ve... |
OMIM:619148 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat... |
OMIM:619991 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Septate v... |
OMIM:300166 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Decreased response to growth hormone stimulation t... |
ORPHA:488632 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal detachment, Cataract, Oligosacchariduria |
ORPHA:163649 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N... |
ORPHA:93552 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicular size |
OMIM:201100 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... |
OMIM:175200 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Cryptorchidism, Optic atrophy, Mi... |
ORPHA:193 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... |
ORPHA:42775 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Thrombocytopenia, Aorti... |
OMIM:230800 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... |
ORPHA:505248 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... |
OMIM:210250 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Cowden Syndrome 5 |
|
Hydrocele testis, Ovarian cyst, Cataract, Goiter |
OMIM:615108 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:234050 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, L... |
OMIM:260920 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Iris coloboma |
OMIM:618874 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment |
ORPHA:209956 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn... |
ORPHA:649 |
Duane-Radial Ray Syndrome |
|
Cataract, Ventricular septal defect, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplas... |
OMIM:607323 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis... |
ORPHA:342 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pan... |
OMIM:130650 |
Thyroid Lymphoma |
|
Goiter, Lymphadenopathy |
ORPHA:97285 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Optic atrophy, Deve... |
OMIM:133540 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Stage... |
OMIM:242900 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Bartsocas-Papas Syndrome 1 |
|
Pterygium, Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia... |
OMIM:263650 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Corneal opacity, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Ovarian cyst, Pancreatitis |
OMIM:610475 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Lymphadenopathy |
ORPHA:142 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Optic nerve hy... |
ORPHA:508498 |
Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo... |
OMIM:617666 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries |
ORPHA:1227 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia |
OMIM:608013 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia,... |
ORPHA:428 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of the uterus, Vaginal a... |
OMIM:616258 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Supernumerary nipple, Keratitis, Ret... |
ORPHA:464 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... |
OMIM:214800 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco... |
OMIM:619259 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chr... |
ORPHA:79259 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611561 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Incr... |
ORPHA:84064 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:614219 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia |
OMIM:235555 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Renal hypoplasia,... |
OMIM:137920 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Abnormal heart valve morphology, Optic nerve hypoplasia, Corneal opacit... |
ORPHA:536471 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased testicular size, Hydroureter, Ventricular septal defect, Decreased ... |
OMIM:146510 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
OMIM:612530 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Crypt... |
ORPHA:709 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine, Cardiomyopathy,... |
OMIM:253200 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation, Decreased HDL cholesterol con... |
ORPHA:14 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Elevated circulating C-reactive pr... |
ORPHA:1304 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Splenomegal... |
OMIM:222470 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
Temtamy Syndrome |
|
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation |
OMIM:218340 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Ventricular septal defect, Hypospadias, Enlarged labia minora, Cornea... |
OMIM:268300 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete... |
OMIM:614527 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Polycystic ovaries |
ORPHA:2176 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Limbal dermoid, Ve... |
ORPHA:857 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph... |
ORPHA:29073 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Tortuosity of ... |
OMIM:230000 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... |
OMIM:612541 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... |
OMIM:232220 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Hepatitis... |
ORPHA:37042 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... |
ORPHA:2250 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:608885 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnor... |
ORPHA:46059 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia, Peters anomaly |
OMIM:614526 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricula... |
ORPHA:818 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... |
ORPHA:2686 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level, Microcornea |
OMIM:110100 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Kerati... |
OMIM:308300 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Cataract, Abnormal optic disc morphology, Retinal neovasculari... |
ORPHA:891 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... |
ORPHA:289176 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... |
OMIM:615688 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous genitalia, Iris coloboma, Hydr... |
ORPHA:2839 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubulointerstitial ne... |
ORPHA:139402 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... |
ORPHA:83628 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... |
OMIM:304790 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, R... |
ORPHA:33226 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegal... |
ORPHA:309282 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Hypocalcemia |
ORPHA:1438 |
Joubert Syndrome 14 |
|
Microphthalmia, Optic atrophy, Ventricular septal defect, Renal cyst |
OMIM:614424 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunctivitis, Conjunctival hyperemia |
OMIM:142680 |
Mucopolysaccharidosis Type 4 |
|
Mucopolysacchariduria, Abnormal heart valve morphology, Corneal opacity |
ORPHA:582 |
De Barsy Syndrome |
|
Cryptorchidism, Cataract, Ventricular septal defect, Corneal opacity |
ORPHA:2962 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... |
OMIM:614643 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... |
OMIM:615113 |
Papa Syndrome |
|
Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Phace Association |
|
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Microph... |
OMIM:606519 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tube morphology, ... |
ORPHA:722 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Steinfeld Syndrome |
|
Absent gallbladder, Abnormal heart morphology, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:184705 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal detachment, Shallow anterior chamber, Retinal neovascularization |
OMIM:305390 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ... |
OMIM:256040 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t... |
ORPHA:322 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Polycythe... |
ORPHA:116 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Tatton-Brown-Rahman Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... |
ORPHA:404443 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Develo... |
OMIM:620185 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria, Hypophosphatemia |
ORPHA:89936 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Unilateral renal agenesis, Developmental cataract |
OMIM:616603 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria, Corneal opacity |
ORPHA:1765 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Optic disc coloboma, Hydrocele testis, Hypoplastic nipples,... |
OMIM:620186 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... |
OMIM:617925 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst |
ORPHA:327 |
Trichothiodystrophy |
|
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular h... |
ORPHA:33364 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Renal cyst, Peters anomaly... |
OMIM:616975 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Cataract, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmi... |
OMIM:109400 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Tetralogy of Fallot, Acute leukemia, Retinal coloboma... |
ORPHA:3474 |
Hennekam Syndrome |
|
Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors... |
ORPHA:2136 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Hypoplasia of the thymus, Rectovagi... |
ORPHA:861 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly,... |
ORPHA:797 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, Cryptorchidism, Bil... |
ORPHA:3472 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia |
ORPHA:3412 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Horseshoe kidney, Microcornea, Bladder dive... |
ORPHA:959 |
Joubert Syndrome 2 |
|
Renal insufficiency, Optic disc coloboma, Renal cyst, Nephronophthisis, Hypoplastic male external... |
OMIM:608091 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:308552 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... |
ORPHA:98863 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi... |
OMIM:251300 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Abnormal sperm morphology, Eosinophilia, Mediastinal lymphaden... |
ORPHA:228123 |
Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C cell hyperplasi... |
ORPHA:653 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fora... |
OMIM:619488 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbil... |
ORPHA:30391 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... |
ORPHA:567983 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Retinal atrophy, Proteinuria, Cataract, Splenomegaly, Cryptorc... |
OMIM:216400 |
Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Iris coloboma, Cryptorchidism, Optic ... |
ORPHA:138 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Microphthalmia |
OMIM:611961 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Ambiguous g... |
ORPHA:2166 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Mend Syndrome |
|
Cataract, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal hear... |
ORPHA:401973 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... |
ORPHA:677 |
Luscan-Lumish Syndrome |
|
Polycystic ovaries |
OMIM:616831 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Microphthalmia, Hydronephrosis |
OMIM:260660 |
2Q31.1 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Optic disc coloboma, Atrial septal defect, Microphthal... |
ORPHA:251014 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia |
OMIM:601675 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Developmental glaucoma, Mitral valve... |
OMIM:245600 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Microphthalmia, Cataract, Iris transillumination defect |
OMIM:617306 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Behçet Disease |
|
Pericarditis, Renal insufficiency, Cataract, Orchitis, Splenomegaly, Endocarditis, Lymphadenopath... |
ORPHA:117 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Sclerocornea, Cryptorchidism, Abnormality of the ga... |
ORPHA:280 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Hyponatremia, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal e... |
ORPHA:90794 |
Congenital Disorder Of Deglycosylation 1 |
|
Hyperalaninemia, Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentrat... |
OMIM:615273 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, Hypoplasia of the iri... |
OMIM:223370 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal p... |
ORPHA:449432 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepatic fibrosis, Polycys... |
OMIM:311200 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia... |
ORPHA:520 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Corneal opacity, Corneal erosion, Ambiguous genitalia, Abnormality of female... |
ORPHA:920 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto... |
OMIM:258040 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract, Hydronephrosis |
ORPHA:35173 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Corneal scarring, Conjunctivit... |
OMIM:263700 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... |
OMIM:618419 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El... |
ORPHA:97287 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic left heart, P... |
OMIM:100300 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... |
ORPHA:268 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg... |
ORPHA:556 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Abnormal cardiac septum morphology, Ocular albinism |
ORPHA:1352 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100080 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Developmental glaucoma, Hepatosplenomegaly, M... |
ORPHA:51 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma, Chondroitin s... |
OMIM:253000 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Carney Complex |
|
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Euthyroid multinodular goi... |
ORPHA:1359 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia, Ventricular septal defect |
OMIM:616920 |
Larsen Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Corneal opacity |
OMIM:150250 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Pate... |
OMIM:613884 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Al-Gazali Syndrome |
|
Corneal opacity, Hydronephrosis, Sclerocornea |
OMIM:609465 |
Monosomy 9Q22.3 |
|
Microphthalmia, Ovarian fibroma, Cardiac fibroma, Cataract |
ORPHA:77301 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia |
OMIM:167730 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu... |
ORPHA:77261 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conj... |
ORPHA:293173 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplastic labia majora, M... |
OMIM:603457 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy, Oligosacchariduria |
ORPHA:2483 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity |
OMIM:601812 |
Oculoectodermal Syndrome |
|
Supernumerary nipple, Limbal dermoid, Pineal cyst, Microcornea, Astigmatism, Opacification of the... |
OMIM:600268 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ... |
ORPHA:289390 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse |
OMIM:259600 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis |
OMIM:300895 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... |
OMIM:619573 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Microphthalmia, Hydronephrosis |
OMIM:302960 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Elevated circulating creatine kinas... |
OMIM:309000 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microp... |
OMIM:153400 |
Gomez-Lopez-Hernandez Syndrome |
|
Decreased response to growth hormone stimulation test, Opacification of the corneal stroma |
OMIM:601853 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... |
OMIM:268400 |
Ogden Syndrome |
|
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... |
OMIM:300855 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:1915 |
Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism, Corneal opacity |
ORPHA:570 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Horseshoe kidney, Popliteal pt... |
OMIM:609945 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila... |
OMIM:620233 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Ventricular septal defect, Hypospadias, Precocious puberty, Cry... |
OMIM:194190 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Renpenning Syndrome 1 |
|
Cataract, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypopla... |
OMIM:309500 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Hematuria, Opacification of the corn... |
OMIM:158310 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retenti... |
ORPHA:97297 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Abnormal heart morphology |
OMIM:610758 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
ORPHA:3455 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Hyponatremia, Small scrotum, Hypospadias, Cryptorchidism, Hype... |
OMIM:201750 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va... |
OMIM:617088 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia |
OMIM:616300 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Blau Syndrome |
|
Pericarditis, Cataract, Keratitis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy,... |
ORPHA:90340 |
Roberts Syndrome |
|
Clitoral hypertrophy, Cataract, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Micropht... |
ORPHA:3103 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology |
ORPHA:100082 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal... |
ORPHA:449563 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration |
OMIM:616538 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anophthalmia, Cryp... |
ORPHA:2052 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Precocious puberty, Cryptorchidis... |
ORPHA:636 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... |
OMIM:613150 |
Frontorhiny |
|
Microphthalmia, Hypopituitarism, Cataract, Iris coloboma |
ORPHA:391474 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Ovarian neoplasm, Adreno... |
ORPHA:100079 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Unilateral renal agenesis |
ORPHA:457284 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis, Anemia |
ORPHA:2908 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Aortic valve sten... |
OMIM:272950 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... |
OMIM:181000 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, ... |
ORPHA:261552 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... |
ORPHA:90041 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, R... |
ORPHA:2526 |
Hallermann-Streiff Syndrome |
|
Cataract, Cryptorchidism, Optic disc coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
Limb Body Wall Complex |
|
Ventricular septal defect, Corneal opacity, Abnormal heart morphology, Abnormality of the liver, ... |
ORPHA:2369 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Ventricular septal defect, Iris coloboma, Ectopic kidney |
ORPHA:268249 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ... |
OMIM:615846 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atriove... |
ORPHA:672 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb... |
ORPHA:261537 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ... |
OMIM:243800 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s... |
ORPHA:100078 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... |
ORPHA:3260 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Papilledema, Cellular urinary casts, Jaundice, Hepatitis, Retinal hem... |
ORPHA:509 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchi... |
OMIM:235730 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy, Corneal opacity |
OMIM:608670 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism, Increased serum beta-hexosaminidase, ... |
OMIM:252600 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Cervical lymphadenopathy... |
ORPHA:2331 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... |
ORPHA:79078 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Precocious puberty, Optic disc coloboma, Optic atrophy, Hepatoblast... |
OMIM:304050 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... |
ORPHA:50 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Female hypogonadism, Cornea... |
ORPHA:740 |
Limb-Mammary Syndrome |
|
Absent nipple, Chronic irritative conjunctivitis, Bilateral breast hypoplasia, Breast aplasia, Hy... |
ORPHA:69085 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... |
ORPHA:254892 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Keratitis, Lymphadenit... |
ORPHA:331235 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Small scrotum, Bicuspid aortic valve, Absent nipple, Cryptorchidism, Abnorm... |
OMIM:612289 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Cataract, Microcornea, Atrial septal defect, Microphthalmia |
OMIM:164200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Ureterocele, Microphthalmia |
OMIM:616734 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb... |
ORPHA:2152 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... |
ORPHA:881 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Optic atrophy, Aminoaciduria, H... |
ORPHA:910 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Neu-Laxova Syndrome 1 |
|
Cataract, Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great art... |
OMIM:256520 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... |
OMIM:607944 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot, Iris coloboma |
ORPHA:3186 |
Plague |
|
Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma, Supernumerary nipple |
ORPHA:1236 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Myhre Syndrome |
|
Cataract, Ventricular septal defect, Pericardial effusion, Cryptorchidism, Atrial septal defect, ... |
OMIM:139210 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism, Abdominal situs inversus, Developmental cataract |
ORPHA:2108 |
Deafness, X-Linked 7 |
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Unilateral microphthalmos |
OMIM:301018 |
Encephalocraniocutaneous Lipomatosis |
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Aortic valve stenosis, Corneal opacity, Iris coloboma, Tricuspid valve prolapse |
ORPHA:2396 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Hypoalbuminemia, Anemia |
ORPHA:79396 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Vesicoureteral reflux, Double inlet left ventricle, At... |
OMIM:619869 |
Osteoporosis-Pseudoglioma Syndrome |
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Iris atrophy, Cataract, Ventricular septal defect, Phthisis bulbi, Retinal calcification, Absent ... |
OMIM:259770 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Optic a... |
OMIM:305600 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypopl... |
OMIM:135900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys... |
OMIM:615287 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo... |
OMIM:107480 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Corneal opacity, Keratitis, Cryptorchidism, Corneal erosion, Astigmatism, Conjunctiv... |
ORPHA:2273 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v... |
ORPHA:100075 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:365 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Papilledema, Urinary incontinence, Keratitis, My... |
ORPHA:3385 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Renal cyst, Retinal co... |
OMIM:113620 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine ru... |
OMIM:130050 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Unilateral renal agenesis, Dilatation of the ventricular cavity, Pyelonephritis,... |
ORPHA:90348 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... |
ORPHA:468631 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly |
ORPHA:91387 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Monosomy 9P |
|
Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction |
ORPHA:261112 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Retinal hemorrhag... |
ORPHA:51608 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Corneal opacity, Hypercalciuria, Nephrolithiasis, Mitral valve p... |
ORPHA:666 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Anophthalmia, Sclerocornea, Cryptorchidism, Renal hypoplasia,... |
OMIM:607932 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal ... |
ORPHA:508488 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Cataract, Hypospadias, Ventricular septal defect,... |
OMIM:261540 |
Cherubism |
|
Macular scar, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Keratoconjunctivitis, Opacification of the corneal stroma, Abnormal p... |
ORPHA:2907 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum, Iris coloboma |
ORPHA:2612 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... |
ORPHA:425 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph... |
OMIM:154500 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy |
OMIM:201180 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Microphthalmia, Iris coloboma, Anterior pituitary agenes... |
OMIM:157170 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis, Single ventricle |
OMIM:236100 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... |
ORPHA:536 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblasto... |
ORPHA:99889 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Bicuspid aortic valve, Hypospadias, Anophthalmia, Cryptorchidism, Optic disc colobom... |
OMIM:309800 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Bicuspid aortic valve, Sutural cataract, Muscular ventricular septal defect, Nuclear pu... |
OMIM:612474 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Abnormal pupil morphol... |
ORPHA:286 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
Curry-Jones Syndrome |
|
Microphthalmia, Iris coloboma |
OMIM:601707 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Witteveen-Kolk Syndrome |
|
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorc... |
OMIM:613406 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Keratitis, Cryptorchidism, ... |
OMIM:308205 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma |
OMIM:610828 |
Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Tetralogy of Fallot, Cataract |
ORPHA:306542 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction |
OMIM:602535 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Pulmonic stenosis |
ORPHA:137605 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Yunis-Varon Syndrome |
|
Absent nipple, Ventricular septal defect, Hypospadias, Cataract, Sclerocornea, Cryptorchidism, Ca... |
OMIM:216340 |
Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cataract, Cryptorchi... |
OMIM:601803 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ectopic kidney, Limbal der... |
OMIM:164210 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |