His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... |
OMIM:613838 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... |
OMIM:608758 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea, Microphthalmia |
ORPHA:2432 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... |
OMIM:613690 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... |
OMIM:613873 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... |
OMIM:612158 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... |
OMIM:613424 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenom... |
ORPHA:290 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Micropenis, Hypospadias, Dilated cardiomyopathy, Developmental cataract, Cryptor... |
OMIM:618815 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Atrial septal defect, Hypokalemia, Increased C-peptide level, Long penis, Ven... |
ORPHA:769 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Microphthalm... |
OMIM:615524 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Insulin-Resistance Syndrome Type B |
|
Nephritis, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentratio... |
ORPHA:2298 |
Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Microphthalmia |
ORPHA:3434 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Ascites, Microphthalmia, Ane... |
ORPHA:858 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve mor... |
ORPHA:93476 |
Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... |
ORPHA:335 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Bicornuate uterus, Bifid scrotum, Hypospadias, Ventricular septal defect, E... |
ORPHA:2745 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract, Splenomegaly |
OMIM:619813 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Cervix cancer, Abno... |
ORPHA:2869 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Atrial Fibrillation, Familial, 11 |
|
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave |
OMIM:614049 |
Linear Verrucous Nevus Syndrome |
|
Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Hypophosphatemia, Iris coloboma, Cat... |
ORPHA:2611 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Primary hyperparathyroidism, Polyuri... |
OMIM:239200 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... |
OMIM:613313 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation |
ORPHA:90647 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Leprechaunism |
|
Hypokalemia, Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Labial ... |
ORPHA:508 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... |
ORPHA:1473 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Corneal stromal edema, Glycosuria, Cataract, Pro... |
ORPHA:699 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Mitral regurgitation, Right ventricular failure, Tachy... |
ORPHA:563 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
Fish-Eye Disease |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenop... |
ORPHA:79292 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microphthalmia, Microcornea, Hypogonadism |
ORPHA:2528 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia affecting the eye, Opacific... |
ORPHA:1643 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-weight ... |
OMIM:308990 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Precocious puberty, Elevated circulating grow... |
ORPHA:562 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Primary hyperparathyroidism, Hype... |
ORPHA:99879 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276556 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Brugada Syndrome 7 |
|
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Ebstein Anomaly |
|
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... |
OMIM:224700 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Hyp... |
OMIM:235200 |
Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia |
OMIM:227320 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Cystinosis |
|
Renal tubular dysfunction, Corneal opacity, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephrop... |
ORPHA:213 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Retinal pigment epithelial mottling, Glycosuria,... |
OMIM:219800 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia |
OMIM:300952 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, A... |
ORPHA:2470 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Nephropathy, Ascites |
ORPHA:87876 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Peters anomaly, Patent foramen ovale, Microphtha... |
OMIM:618652 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276575 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Abnorma... |
ORPHA:1067 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Macular atrophy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Microphthalmia |
OMIM:616171 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogo... |
OMIM:602390 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency, Hypogonadis... |
ORPHA:281090 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope |
ORPHA:276580 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... |
ORPHA:785 |
Mosaic Trisomy 9 |
|
Corneal opacity, Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Multiple r... |
ORPHA:99776 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... |
ORPHA:90796 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Ovar... |
ORPHA:400 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Acquired Methemoglobinemia |
|
Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Left ventricular hypertrophy, Retinal detachment, Elevated circulating creatine ... |
OMIM:613153 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenome... |
OMIM:615559 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Rudiger Syndrome |
|
Ovarian cyst, Ureterovesical stenosis, Bicornuate uterus, Micropenis |
OMIM:268650 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... |
OMIM:614866 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... |
OMIM:269920 |
Ovarian Hyperstimulation Syndrome |
|
Ovarian cyst, Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Enlarged polycy... |
ORPHA:64739 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... |
OMIM:617713 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Retinal coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypogona... |
ORPHA:363741 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... |
OMIM:608709 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Corneal opacity, Abnormal aortic valve morphology |
ORPHA:577 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Increased hepatic glycogen content, Hepat... |
ORPHA:2088 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Cataract, Jaundice |
ORPHA:79238 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size, Cryptorchidism... |
ORPHA:1867 |
Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations |
OMIM:605373 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote... |
OMIM:620010 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia |
OMIM:251505 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity |
ORPHA:2370 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Optic atrophy, 3-Methylglutaconic aciduria, Cataract, Cr... |
ORPHA:496790 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Cataract, Nephrocalcinosis, Hypocalcemic sei... |
OMIM:146200 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cataract, Microphthalmia, Hypogonadism |
ORPHA:1466 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Dilated cardiomyopathy |
ORPHA:2229 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Aromatase Deficiency |
|
Ambiguous genitalia, female, Hyperlipidemia, Hypergonadotropic hypogonadism, Macroorchidism, post... |
ORPHA:91 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Hepatomegaly, Splenomegaly, Hypogonadism |
OMIM:608540 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Microcornea, Optic atrophy, Developmental cataract, Microphthalmia, ... |
OMIM:600118 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes |
ORPHA:33111 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Aplasia/Hypoplasia affecting the eye, Corneal opacity, Hypocalcemia, Hypoplas... |
ORPHA:2323 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Pseudopapilledema, Unilateral microphthalmos, Optic disc... |
ORPHA:137902 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypoplasia... |
OMIM:214110 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephro... |
OMIM:616026 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice |
OMIM:230350 |
Trisomy 13 |
|
Atrial septal defect, Abnormality of the ureter, Anophthalmia, Multiple renal cysts, Abnormal mor... |
ORPHA:3378 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating creatinine c... |
ORPHA:275555 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Pancreatitis, Hepatic steatosis, Hepatomegaly |
ORPHA:79084 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Ventricular tachycardia, Cardiac arrest, Cardiomy... |
OMIM:212138 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Cataract, Microphthalmia, Cryptorchidism, Hypogonadism |
OMIM:601794 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... |
OMIM:613388 |
Zellweger Syndrome |
|
Corneal opacity, Hepatomegaly, Hypospadias, Multicystic kidney dysplasia, Posterior embryotoxon, ... |
ORPHA:912 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Tachycardia, Dilated cardiomyopathy, Syncope |
OMIM:615821 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... |
OMIM:601186 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Cataract, Abnormal testis morphology |
ORPHA:317 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormality of the parathyroid morphology, Nephrolithiasis, Hypophosphatemia, Pancreatitis, Parat... |
ORPHA:99880 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cataract, Decreased testicul... |
ORPHA:3085 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, Hepatocellular carc... |
ORPHA:370 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Vaginal fistula, Unilateral microphthalmos, Horseshoe kidney, Bilateral mi... |
OMIM:619318 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Stage 3 chronic kidney disease, Mildl... |
OMIM:619743 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hypocalcemia, Transient hypophosphatemia, Papilledema, Retinal calcification,... |
OMIM:127000 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Parathyroid Carcinoma |
|
Abnormality of the parathyroid morphology, Nephrolithiasis, Hypophosphatemia, Pancreatitis, Parat... |
ORPHA:143 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Microphthalmia |
OMIM:251700 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Elevated circulating creatinine concentration... |
ORPHA:85450 |
Paragangliomas 1 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:168000 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites |
ORPHA:1046 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Walker-Warburg Syndrome |
|
Corneal opacity, Hypoplasia of penis, Retinal detachment, Anophthalmia, Microcornea, Optic atroph... |
ORPHA:899 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Abnormal abdomen morphology, Renal tubular dysfunction, Hypophosphatemic... |
OMIM:241530 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... |
ORPHA:157215 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia, Hypoalbuminemia, Cataract,... |
OMIM:618805 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Corneal opacity, Hepatomegaly, Micropenis, Pulmonic stenosis, Hypo... |
OMIM:301056 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Myocarditis, Oliguria,... |
ORPHA:31824 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Foveal Hypoplasia 2 |
|
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Micropenis, Hypoplastic spleen, Microphthalmia, Ascites, Aniridia, Asplenia |
OMIM:602361 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Carcinoma Of Esophagus |
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Lymphadenopathy |
ORPHA:70482 |
Mucolipidosis Iv |
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Abnormal abdomen morphology, Corneal opacity, Retinal degeneration, Opacification of the corneal ... |
OMIM:252650 |
Encephalocraniocutaneous Lipomatosis |
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Atrial septal defect, Abnormal anterior chamber morphology, Limbal dermoid, Ventricular septal de... |
OMIM:613001 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Testicular... |
ORPHA:83469 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Hypertension, Tachycardia |
OMIM:613870 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Hypoplasia of penis, Hypospadias, Anophthalmia, Ventricular septal defect, Iris coloboma, Microph... |
ORPHA:77298 |
Alpha-Mannosidosis |
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Corneal opacity, Hepatomegaly, Cataract, Splenomegaly |
ORPHA:61 |
Heme Oxygenase 1 Deficiency |
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Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Coombs-positive hemolytic ... |
OMIM:614034 |
Tetragametic Chimerism |
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Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Fanconi Renotubular Syndrome 1 |
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Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... |
OMIM:134600 |
Mulibrey Nanism |
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Myocardial fibrosis, Hepatomegaly, Pigmentary retinopathy, Astigmatism, Iris coloboma, Corneal dy... |
OMIM:253250 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Follicular Lymphoma |
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Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Immunodeficiency 27A |
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Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Hyperbilirubinemia, Shunt, Primary |
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Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Rere-Related Neurodevelopmental Syndrome |
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Hypospadias, Astigmatism, Ventricular septal defect, Optic atrophy, Peters anomaly, Iris coloboma... |
ORPHA:494344 |
Osteoporosis-Pseudoglioma Syndrome |
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Corneal opacity, Retinal detachment, Isosexual precocious puberty, Microphthalmia |
ORPHA:2788 |
Biemond Syndrome Type 2 |
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Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias, Hypogonadism |
ORPHA:141333 |
Juvenile Sialidosis Type 2 |
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Corneal opacity, Hepatomegaly, Hepatosplenomegaly, Optic atrophy, Visceromegaly, Cataract, Abnorm... |
ORPHA:93399 |
Myopathy, Myofibrillar, 1 |
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Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Pierpont Syndrome |
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Cryptorchidism, Microphthalmia, Microcornea, Micropenis |
OMIM:602342 |
Cardiomyopathy, Dilated, 1D |
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Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
Microphthalmia, Syndromic 8 |
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Cryptorchidism, Microcornea, Microphthalmia |
OMIM:601349 |
Proteus-Like Syndrome |
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Abnormal pupil morphology, Splenomegaly, Abnormality of the parathyroid gland, Retinal detachment... |
ORPHA:2969 |
Niemann-Pick Disease, Type B |
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Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... |
OMIM:300554 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Hyperparathyr... |
OMIM:612089 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Elevated circulating follicle stimulating hormone level, Abnormal external genitalia, Micropenis,... |
ORPHA:95699 |
Juvenile Nephropathic Cystinosis |
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Glycosuria, Corneal crystals, Elevated circulating creatinine concentration, Proteinuria, Proxima... |
ORPHA:411634 |
Pierpont Syndrome |
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Cryptorchidism, Microcornea, Microphthalmia |
ORPHA:487825 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Immunodeficiency 64 |
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Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Hereditary Fructose Intolerance |
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Chronic kidney disease, Hypophosphatemia, Hepatomegaly, Cataract, Renal insufficiency, Hyperurice... |
ORPHA:469 |
Congenital Sialidosis Type 2 |
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Corneal opacity, Hepatomegaly, Hepatosplenomegaly, Hypoplasia of the fovea, Optic atrophy, Catara... |
ORPHA:93400 |
Laryngeal Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Andersen-Tawil Syndrome |
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Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Nephrolithiasis, Hyperparathyroidism, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypoparathyroidism, Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocal... |
OMIM:156400 |
Neonatal Severe Primary Hyperparathyroidism |
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Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia |
OMIM:612286 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypocalcemia, Hepatomegaly, Hypoproteinemia, Micropenis, Splenomegaly, Pulmonary lymphangiectasia... |
ORPHA:1655 |
Bresek Syndrome |
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Optic nerve hypoplasia, Iris coloboma, Renal hypoplasia, Decreased testicular size, Microphthalmi... |
ORPHA:85284 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... |
OMIM:613426 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Ventricular septal defect, Ambiguous genitalia, Cataract, Microphthalmia |
ORPHA:93267 |
Tyrosinemia Type 1 |
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Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Meckel Syndrome |
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Microcornea, Optic atrophy, Ambiguous genitalia, Cataract, Microphthalmia, True hermaphroditism, ... |
ORPHA:564 |
Hydroxykynureninuria |
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Tachycardia, Hypotension |
ORPHA:79155 |
Lymphoproliferative Syndrome 3 |
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Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Dent Disease 1 |
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Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Tachycardia |
OMIM:619737 |
Fanconi Anemia, Complementation Group I |
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Atrial septal defect, Decreased response to growth hormone stimulation test, Microphthalmia, Opti... |
OMIM:609053 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Iron deficiency anemia |
ORPHA:89937 |
Adams-Oliver Syndrome 4 |
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Ventricular septal defect, Atrial septal defect, Microphthalmia |
OMIM:615297 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly, ... |
ORPHA:667 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Secondary hyperparathyroidism, Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes |
ORPHA:97290 |
Familial Papillary Or Follicular Thyroid Carcinoma |
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Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes |
ORPHA:319487 |
Autoimmune Hypoparathyroidism |
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Hypocalcemia, Autoimmune hypoparathyroidism, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperp... |
ORPHA:36913 |
Beta-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... |
ORPHA:848 |
Ataxia-Telangiectasia |
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Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Lymphopenia, Abnormal testis morphology |
ORPHA:100 |
Kimura Disease |
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Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:482 |
Proteus Syndrome |
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Lymphangioma, Ovarian neoplasm, Abnormality of retinal pigmentation, Central heterochromia, Splen... |
ORPHA:744 |
Lattice Corneal Dystrophy Type I |
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Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... |
ORPHA:542323 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Macular atrophy, Retinal detachment, Iris coloboma, Cataract, Microphthalmia |
OMIM:212550 |
Plin1-Related Familial Partial Lipodystrophy |
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Polycystic ovaries, Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Hepatomegal... |
ORPHA:465508 |
Pseudo-Torch Syndrome 3 |
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Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... |
OMIM:618886 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
Alport Syndrome 3, Autosomal Dominant |
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Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Anterior polar cataract, Hematuria, Le... |
OMIM:104200 |
Primary Lipodystrophy |
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Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis, Car... |
ORPHA:90970 |
Warburg Micro Syndrome 3 |
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Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... |
OMIM:614222 |
Multiple Sulfatase Deficiency |
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Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, ... |
ORPHA:585 |
Pseudohypoparathyroidism Type 2 |
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Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Pseudohypoparathyroidism, Hypocalcemic seiz... |
ORPHA:94090 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Hyperphosphatemia, Polycystic... |
ORPHA:457059 |
Congenital Left Ventricular Aneurysm |
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Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Ovarian Fibroma |
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Mesenteric cyst, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Abnormality of the... |
ORPHA:314473 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Warburg Micro Syndrome 2 |
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Microphthalmia, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Hypopla... |
OMIM:614225 |
Nanophthalmos |
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Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:35612 |
Hyperthyroidism, Nonautoimmune |
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Tachycardia |
OMIM:609152 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Hypocalcemia, Decreased response to growth hormone stimulation test, Micropenis, Congenital hypop... |
OMIM:241410 |
Cataract 11, Multiple Types |
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Cataract, Microphthalmia |
OMIM:610623 |
Ring Chromosome Y Syndrome |
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Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... |
ORPHA:261529 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
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Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... |
OMIM:152950 |
Sialidosis Type 1 |
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Corneal opacity, Aminoaciduria, Splenomegaly, Urinary excretion of sialylated oligosaccharides, I... |
ORPHA:812 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Gómez-López-Hernández Syndrome |
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Corneal opacity |
ORPHA:1532 |
Congenital Disorder Of Glycosylation, Type Iio |
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Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, C... |
OMIM:616828 |
Joubert Syndrome 37 |
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Hepatomegaly, Microphthalmia, Micropenis, Hydronephrosis, Decreased testicular size, Cryptorchidism |
OMIM:619185 |
Progressive Familial Intrahepatic Cholestasis |
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Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Immunodeficiency, Common Variable, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Polycystic ovaries, Hypertrophic ... |
ORPHA:2348 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypoammonemia, Hematuria, Cataract, Proteinuria, Lentiglobus, Microphthalmia, Nephrolithiasis, Ab... |
ORPHA:534 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P... |
ORPHA:2239 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... |
OMIM:619658 |
Kapur-Toriello Syndrome |
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Hypoplasia of penis, Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Iris colob... |
ORPHA:2328 |
Tetanus |
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Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Tachycardia |
ORPHA:90036 |
Immunodeficiency 72 With Autoinflammation |
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Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... |
ORPHA:860 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Atrial septal... |
OMIM:602782 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia, Cataract, Hypogonadism, Pseudohypoparathyroidism, Low uri... |
OMIM:612462 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Pparg-Related Familial Partial Lipodystrophy |
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Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hyperuricemia, Polycys... |
ORPHA:79083 |
Stickler Syndrome Type 2 |
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Corneal opacity, Retinal detachment, Cataract |
ORPHA:90654 |
Griscelli Syndrome Type 2 |
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Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Iris hypopigmentation,... |
ORPHA:79477 |
Pseudohypoparathyroidism, Type Ib |
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Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... |
OMIM:603233 |
Ichthyosis, X-Linked |
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Cryptorchidism, Opacification of the corneal stroma, Testicular neoplasm |
OMIM:308100 |
Infantile Nephropathic Cystinosis |
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Renal tubular dysfunction, Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Aminoacidur... |
ORPHA:411629 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia, Premature ventricular contraction, Right bundle branch block |
OMIM:602668 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, Sclerocornea |