Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Recu... |
OMIM:268500 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Right... |
OMIM:178600 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... |
OMIM:265450 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... |
OMIM:234810 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system phys... |
ORPHA:70589 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Pulmonary Hypertension, Primary, Autosomal Recessive |
|
Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary arterial hypertensio... |
OMIM:265400 |
Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Skeletal muscle atrophy, Pneumonia, Right ventricular hypertrophy, ... |
OMIM:253700 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Myopia 22, Autosomal Dominant |
|
Myopia, Reduced visual acuity, Visual impairment |
OMIM:615420 |
Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... |
ORPHA:99105 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Syncope, Hepatomegaly, Right ventricular dilatation, Palpitations, Elevated jugular venous pressu... |
ORPHA:422 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Levotransposition of the great arteries, Anomalous pulmonary ve... |
ORPHA:860 |
Familial Dilated Cardiomyopathy |
|
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:217607 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Idiopathic Pulmonary Arterial Hypertension |
|
Syncope, Palpitations, Right ventricular hypertrophy, Pulmonary arterial hypertension, Tricuspid ... |
ORPHA:275766 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... |
OMIM:106700 |
Night Blindness, Congenital Stationary, Type 1E |
|
Myopia, Reduced visual acuity, Visual impairment, Congenital stationary night blindness |
OMIM:614565 |
Congenital unilateral pulmonary hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the l... |
ORPHA:2258 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... |
ORPHA:1329 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Chylopericardium, Chronic pulmonary obstruction, Pulmonary arterial hypertension, C... |
ORPHA:2414 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Ventricular septal def... |
ORPHA:99095 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Hepatomegaly, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Facial pa... |
OMIM:612387 |
Atrial Septal Defect, Ostium Primum Type |
|
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... |
ORPHA:99106 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, Left ... |
ORPHA:353 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Myopia, Spastic ataxia |
OMIM:271320 |
Coronary Arterial Fistula |
|
Syncope, Bicuspid aortic valve, Exertional dyspnea, Abnormal EKG, Aortic valve stenosis, Abnormal... |
ORPHA:2041 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Classic Multiminicore Myopathy |
|
Right ventricular failure, Multiple joint contractures, Increased muscle lipid content, Mitral va... |
ORPHA:324604 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Paroxysmal dyspnea, Left atrial e... |
ORPHA:563 |
Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Trimethylaminuria |
|
Hypertension, Depression, Tachycardia |
OMIM:602079 |
Blue Cone Monochromacy |
|
Myopia, Photophobia, Reduced visual acuity, Blue cone monochromacy, Visual impairment |
OMIM:303700 |
Night Blindness, Congenital Stationary, Type 1F |
|
Myopia, Congenital stationary night blindness |
OMIM:615058 |
Coproporphyria, Hereditary |
|
Hypertension, Anxiety, Depression, Tachycardia |
OMIM:121300 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Glanzmann Thrombasthenia 2 |
|
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistaxis, Impaired ... |
OMIM:619267 |
His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
Glaucoma, Primary Open Angle |
|
Myopia |
OMIM:137760 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Right ventricular dilatation, Pneumonia,... |
ORPHA:99104 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Myopia, Gait disturbance, Ataxia, Spastic ataxia |
ORPHA:2572 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Myopia 6 |
|
Myopia |
OMIM:608908 |
Myopia 18, Autosomal Recessive |
|
Myopia |
OMIM:255500 |
Myopia 15, Autosomal Dominant |
|
Myopia |
OMIM:612717 |
Myopia 9 |
|
Myopia |
OMIM:609258 |
Myopia 10 |
|
Myopia |
OMIM:609259 |
Myopia 7 |
|
Myopia |
OMIM:609256 |
Myopia 8 |
|
Myopia |
OMIM:609257 |
Myopia 24, Autosomal Dominant |
|
Myopia |
OMIM:615946 |
Myopia 1, X-Linked |
|
Myopia |
OMIM:310460 |
16P11.2P12.2 Microduplication Syndrome |
|
Dystonia, Myopia, Attention deficit hyperactivity disorder |
ORPHA:261204 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Hepatomegaly, Pericardial effusion, Systolic heart murmur, Tachypnea, Right ventricula... |
ORPHA:555874 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Abnormal descending aorta morphology, Exertional dyspnea, Anomalous origin o... |
ORPHA:99050 |
Limited Cutaneous Systemic Sclerosis |
|
Contractures involving the joints of the feet, Pulmonary arterial hypertension, Telangiectasia of... |
ORPHA:220402 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Hypertension, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Moyamoya Disease With Early-Onset Achalasia |
|
Hypertension, Abnormal platelet aggregation, Thrombocytopenia, Raynaud phenomenon |
ORPHA:401945 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morpholo... |
ORPHA:185 |
Choroideremia |
|
Myopia, Progressive visual loss, Abnormality of vision, Nyctalopia, Visual impairment |
ORPHA:180 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615344 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... |
OMIM:173590 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:619003 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... |
OMIM:615343 |
Glaucoma 1, Open Angle, A |
|
Myopia |
OMIM:137750 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Myopia |
OMIM:174310 |
Cataract 42 |
|
Myopia |
OMIM:115900 |
Glaucoma-Related Pigment Dispersion Syndrome |
|
Myopia |
OMIM:600510 |
Leukodystrophy, Hypomyelinating, 11 |
|
Myopia, Ataxia |
OMIM:616494 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... |
OMIM:265120 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Pulmonary embolism... |
ORPHA:228116 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... |
ORPHA:444013 |
Cataract 12, Multiple Types |
|
Myopia |
OMIM:611597 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
Achromatopsia |
|
Myopia, Monochromacy, Hypermetropia, Central scotoma, Reduced visual acuity, Color vision test ab... |
ORPHA:49382 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Reduced visual acuity, Visual impairment, Color vision defect, Photophobia, Nyctalopia |
OMIM:304020 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... |
ORPHA:3287 |
Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
Ã…land Islands Eye Disease |
|
Myopia, Reduced visual acuity, Color vision defect, Difficulty adjusting from light to dark, Asti... |
ORPHA:178333 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Hepatomegaly, Atr... |
ORPHA:1677 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
Meconium Aspiration Syndrome |
|
Pulmonary insufficiency, Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hyper... |
ORPHA:70588 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... |
OMIM:108900 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dysphagia, Dementia, Motor deterioration, Cognitive impairment, Tachycardia, Loss of ability to w... |
ORPHA:79264 |
5Q35 Microduplication Syndrome |
|
Myopia |
ORPHA:228415 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Aorta Coarctation |
|
Hypertension, Bicuspid aortic valve, Coarctation of the descending aortic arch, Pulmonary arteria... |
ORPHA:1457 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Myopia, Spastic gait |
ORPHA:320396 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, ... |
ORPHA:199241 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormal aortic morphology, Respiratory insufficiency, Congenital diap... |
ORPHA:1166 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension |
OMIM:614475 |
Glanzmann Thrombasthenia 1 |
|
Intracranial hemorrhage, Impaired clot retraction, Epistaxis, Decreased platelet glycoprotein IIb... |
OMIM:273800 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension |
OMIM:613623 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Night Blindness, Congenital Stationary, Type 1H |
|
Mild myopia, Hypermetropia, Nyctalopia, Photophobia |
OMIM:617024 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic ... |
OMIM:185500 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hypoxemia, Bacterial endocarditis, Palpitations, Epistaxis, Pulmonary arterial hy... |
ORPHA:2038 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Pulmonary edema, Abnormal EKG, Recurrent respiratory infections, Reduced ejec... |
ORPHA:980 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Large for gestationa... |
ORPHA:276556 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Pulmonary artery atresia |
ORPHA:1208 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
Fixed Subaortic Stenosis |
|
Syncope, Bicuspid aortic valve, Exertional dyspnea, Ventricular septal defect, Mitral regurgitati... |
ORPHA:3092 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuf... |
ORPHA:412066 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Synaptic Congenital Myasthenic Syndromes |
|
Myopathy, Neonatal respiratory distress, Hand muscle weakness, Respiratory insufficiency, Skeleta... |
ORPHA:98915 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test |
OMIM:229100 |
Sveinsson Chorioretinal Atrophy |
|
Myopia, Astigmatism |
OMIM:108985 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Pulmonary arterial hypertension, Tricuspid regurgitation, Congestive heart fa... |
ORPHA:95459 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:215600 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Large for gestatio... |
ORPHA:45452 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Large for gestationa... |
ORPHA:276575 |
Congenital Stationary Night Blindness |
|
Myopia, Hypermetropia, Reduced visual acuity, Color vision defect, Nyctalopia, Congenital station... |
ORPHA:215 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary edema, Pulmonary artery stenosis, Interrupted aortic arch, Ventricu... |
ORPHA:3384 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... |
OMIM:612158 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Dysphagia, Cardiomyopathy |
OMIM:255100 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent ... |
ORPHA:85202 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect |
OMIM:613355 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Polyphagia, Palpitations, Tachycardia, Large for gestationa... |
ORPHA:276580 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... |
ORPHA:95430 |
Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Pulmonary arterial hypertension, Splenomegaly, Pulmonic stenosis, ... |
OMIM:616028 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Myopia, Central scotoma, Reduced visual acuity, Color vision defect, Astigmatism, Photophobia, Vi... |
OMIM:300476 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Coarctation of aorta... |
ORPHA:1209 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Arrhythmia, Cardiomyopathy, Mitral valve prolapse |
OMIM:614676 |
Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Respiratory insufficiency, Abnormal tricuspid valve morphology, Gastrointestinal he... |
ORPHA:90308 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Tachycardia, Increased body weight, Lethargy |
ORPHA:276608 |
Stiff-Person Syndrome |
|
Hypertension, Agoraphobia, Exaggerated startle response, Tachycardia, Anxiety, Depression |
OMIM:184850 |
Retinal Cone Dystrophy 3B |
|
Myopia, Scotoma, Astigmatism, Photophobia, Nyctalopia |
OMIM:610356 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Epistaxis, Gastrointestinal hemorrhag... |
OMIM:173470 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Myopia, Spastic gait |
OMIM:613162 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Polyphagia, Small for gestational age, Palpitations, Tachycardia, Large for gestational ... |
ORPHA:324575 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Antisynthetase Syndrome |
|
Myocarditis, Respiratory insufficiency, Myositis, Aortic regurgitation, Pulmonary arterial hypert... |
ORPHA:81 |
Retinal Capillary Malformation |
|
Myopia, Vitreous floaters, Progressive visual loss, Amblyopia, Reduced visual acuity, Paracentral... |
ORPHA:71213 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... |
OMIM:617182 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... |
OMIM:608751 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... |
ORPHA:57777 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:615888 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... |
OMIM:611556 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... |
OMIM:604250 |
Optic Atrophy 11 |
|
Myopia, Hypermetropia, Dysmetria, Amblyopia, Hyperactivity, Ataxia, Visual impairment |
OMIM:617302 |
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
|
Myopia, Waddling gait, Blue sclerae |
OMIM:184000 |
Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... |
ORPHA:662 |
Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Myocardial fibrosis, Cardiomyopathy, Left ventricular hype... |
OMIM:613873 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Aland Island Eye Disease |
|
Myopia, Astigmatism, Severely reduced visual acuity |
OMIM:300600 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Obstructive sleep apnea, Mitral regurgitation, Aortic regurgitation, Pulmonary arte... |
OMIM:607015 |
Achromatopsia 3 |
|
Severely reduced visual acuity, Monochromacy, High myopia, Achromatopsia, Photophobia, Dyschromat... |
OMIM:262300 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Myopia, Ataxia, Inability to walk, Waddling gait, Broad-based gait |
OMIM:616756 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... |
OMIM:601775 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Total anomalous pulmonary veno... |
OMIM:613854 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Myopia |
OMIM:614199 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion |
OMIM:209050 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Tachycardia, Anxiety, Arrhythmia |
ORPHA:464453 |
Gaucher Disease, Type I |
|
Hypertension, Hepatomegaly, Mitral regurgitation, Epistaxis, Pulmonary arterial hypertension, Spl... |
OMIM:230800 |
Braddock Syndrome |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Congenital muscular torticollis, ... |
ORPHA:52047 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Dystonia, Reduced visual acuity, Cerebral visual impairment, Constriction of peripheral v... |
OMIM:304700 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Pulmonary arterial hypertensi... |
OMIM:615474 |
Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Atrioventricular Septal Defect 3 |
|
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... |
OMIM:600309 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Myopia, Visual impairment |
ORPHA:1574 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Night Blindness, Congenital Stationary, Type 1C |
|
Myopia, Reduced visual acuity, Congenital stationary night blindness |
OMIM:613216 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Reduced ejection fraction, Right ventricular hypertrophy... |
ORPHA:268 |
Paragangliomas 3 |
|
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... |
OMIM:605373 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
Pulmonary Hypertension, Primary, 2 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance |
OMIM:615342 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation |
OMIM:613874 |
Oguchi Disease |
|
Myopia, Congenital stationary night blindness, Diplopia, Abnormality of refraction, Visual impair... |
ORPHA:75382 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
Polydactyly-Myopia Syndrome |
|
Myopia |
ORPHA:2917 |
Retinal Dystrophy And Obesity |
|
Myopia, Reduced visual acuity, Visual impairment, Astigmatism |
OMIM:616188 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... |
OMIM:614022 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Left atrial enlargement, Atrial fibrillation,... |
ORPHA:75249 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ventricular septal defect, Dilatation of... |
ORPHA:99094 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Retinitis Pigmentosa 1 |
|
Myopia, Nyctalopia, Constriction of peripheral visual field |
OMIM:180100 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Pseudobulbar paralysis, Epistaxis, Tachycardia, Cerebral ischemia, Cardi... |
ORPHA:449285 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613876 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Irritability, Polydipsia, Lethargy |
ORPHA:30925 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Myopia, Visual impairment |
OMIM:600790 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... |
OMIM:619051 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Internal hemorrhage, Right ventricular hypertrophy, Tachycardia |
ORPHA:335 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
Wagner Vitreoretinopathy |
|
Visual loss, Myopia, Visual field defect |
OMIM:143200 |
Paragangliomas 1 |
|
Palpitations, Episodic paroxysmal anxiety, Hypertension associated with pheochromocytoma, Tachyca... |
OMIM:168000 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Bleeding Disorder, Platelet-Type, 8 |
|
Epistaxis, Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
Overlap Myositis |
|
Hypertension, Perifascicular muscle fiber atrophy, Abnormal heart morphology, Pulmonary arterial ... |
ORPHA:206572 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Syncope, Abnormal T-wave, Right ventricular dilatation, Palpitations, ... |
ORPHA:70591 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect |
OMIM:608406 |
Loeffler Endocarditis |
|
Left atrial enlargement, Aortic valve stenosis, Pericarditis, Mitral regurgitation, Palpitations,... |
ORPHA:75566 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormal heart morphology, Recurrent upper respiratory tract infections, Pulmonary arterial hyper... |
ORPHA:391372 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Hypertensive crisis, Telangiectasia of the skin, Congestive hear... |
ORPHA:220393 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
Leber Hereditary Optic Neuropathy |
|
Ataxia, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... |
ORPHA:1345 |
Retinitis Pigmentosa 2 |
|
Myopia, Nyctalopia, Constriction of peripheral visual field |
OMIM:312600 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... |
OMIM:618780 |
Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:614261 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Neonatal respiratory distress, Dysplastic tricuspid valve, Misalignment of... |
OMIM:265380 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Splenomegaly, Pulmonic ... |
OMIM:608149 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Paroxysmal dyspnea, Mitral atresia, Low-output congestive heart failur... |
ORPHA:99125 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arterial hypertension |
OMIM:614857 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Mitral regurgitation, Mac... |
ORPHA:363705 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Failure to thrive, Tachycardia, Hyperactivity, Anxiety, Attention deficit hyperacti... |
ORPHA:485405 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Hypertryptophanemia |
|
Myopia, Visual impairment |
OMIM:600627 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... |
OMIM:617514 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Absent muscle fiber merosin, Reduced ejection fraction, Respiratory ... |
ORPHA:258 |
Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Pericarditis, Myositis, Pleuritis, Pulmonary arterial hypertension, Sp... |
ORPHA:809 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Visual impairment |
ORPHA:75373 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia, Lethargy |
OMIM:229700 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Arthrogryposis multiplex congenita |
OMIM:613404 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Abnormality of the pulmonary artery, Atria... |
ORPHA:290 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertrophy, Epista... |
ORPHA:369929 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... |
OMIM:613838 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
Osteoporosis-Pseudoglioma Syndrome |
|
Moderately reduced visual acuity, Blue sclerae, Loss of ability to walk, Waddling gait, Congenita... |
ORPHA:2788 |
Exudative Vitreoretinopathy 6 |
|
Progressive visual loss, Myopia |
OMIM:616468 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Myopia, Hypermetropia, Ataxia, Inability to walk, Astigmatism, Attention deficit hyperactivity di... |
OMIM:619556 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Dysplastic aortic valve, Endocarditi... |
ORPHA:3093 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation,... |
ORPHA:96369 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Weight loss, Anxiety, Depression, Lethargy |
ORPHA:178029 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Arthrogryposis mu... |
OMIM:208085 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... |
ORPHA:848 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Aortic r... |
ORPHA:363618 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:613759 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Reduced visual acuity |
OMIM:602499 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Irritability, Mental deterioration, Anxiety, Hypotension |
ORPHA:43116 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Progressive visual loss, High myopia, Paracentral scotoma, Constriction of peripheral visual fiel... |
OMIM:210370 |
Bornholm Eye Disease |
|
Protanopia, Deuteranopia, Amblyopia, High myopia, Astigmatism |
OMIM:300843 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Myopia |
OMIM:609508 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myopia, Dysmetria, Inability to walk, Gait ataxia, Visual impairment |
OMIM:617810 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension |
OMIM:619059 |
Familial Thrombocytosis |
|
Syncope, Pulmonary arterial hypertension, Cerebral ischemia, Splenomegaly, Transient ischemic att... |
ORPHA:71493 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Abnormal hemidiaph... |
ORPHA:2257 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cough, Card... |
ORPHA:86812 |
Tetrasomy 5P |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arterial hypertension, Respirator... |
ORPHA:3309 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Scleroderma |
|
Right ventricular failure, Syncope, Myocarditis, Myopathy, Pericarditis, Pulmonary arterial hyper... |
ORPHA:801 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Porphyria, Acute Intermittent |
|
Hypertension, Anxiety, Depression, Tachycardia |
OMIM:176000 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... |
OMIM:601399 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Pulmonary arterial hypertension,... |
OMIM:614921 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Pulmonary arterial hypertension, Arterial occlusion, Myocardial infarction, Transien... |
ORPHA:464343 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Wheezing, Ventricular arrhythmia, Exerti... |
ORPHA:97214 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Myopia, Unsteady gait, Bradykinesia |
OMIM:617435 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Myopia, Reduced visual acuity, Visual impairment |
OMIM:268050 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggrega... |
OMIM:277480 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Astigmatism, Inability to walk, Myopia |
OMIM:617802 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171420 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Blue sclerae |
ORPHA:66633 |
Tako-Tsubo Cardiomyopathy |
|
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... |
ORPHA:66529 |
Lamb-Shaffer Syndrome |
|
Myopia |
OMIM:616803 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Myopia |
OMIM:300210 |
Neuroectodermal Melanolysosomal Disease |
|
Myopia, Ataxia |
ORPHA:33445 |
Meckel Syndrome, Type 7 |
|
Right ventricular hypertrophy, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, ... |
OMIM:267010 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Respiratory insufficiency, Mitral regurgitation, Pulmonary arterial hypertension, P... |
OMIM:612541 |
Night Blindness, Congenital Stationary, Type 1A |
|
Myopia, Hemeralopia, High myopia, Congenital stationary night blindness |
OMIM:310500 |
Ataxia-Pancytopenia Syndrome |
|
Gait disturbance, Abnormal platelet function, Decreased circulating antibody level, Ataxia, Unste... |
ORPHA:2585 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
Bernard-Soulier Syndrome |
|
Epistaxis, Impaired ristocetin-induced platelet aggregation, Gastrointestinal hemorrhage, Prolong... |
OMIM:231200 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Myopia, Visual impairment |
ORPHA:2786 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
Dextrocardia |
|
Dextrocardia, Abnormal pulmonary situs morphology, Abnormal lung lobation, Situs inversus totalis... |
ORPHA:1666 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Myopia, Inability to walk, Difficulty walking |
OMIM:611890 |
Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
Myopia 23, Autosomal Recessive |
|
High myopia, Reduced visual acuity, Visual impairment |
OMIM:615431 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory in... |
OMIM:613845 |
Cardiac Diverticulum |
|
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... |
ORPHA:1686 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia |
OMIM:619272 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Dystonia, Myopia |
OMIM:617873 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation |
OMIM:605735 |
Mehmo Syndrome |
|
Myopia, Inability to walk, Gait ataxia, Difficulty walking |
OMIM:300148 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Neonatal respiratory distress, Pulmonary arterial hypertension, Respir... |
ORPHA:209905 |
Laron Syndrome |
|
Blue sclerae |
OMIM:262500 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Weight loss, Tachycardia |
OMIM:613239 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Weight loss, Tachycardia |
OMIM:188580 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Leber Congenital Amaurosis 15 |
|
Myopia, Hypermetropia, Visual impairment, Constriction of peripheral visual field, Color vision d... |
OMIM:613843 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Epistaxis, Imp... |
OMIM:139090 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Blue sclerae |
OMIM:166230 |
Retinitis Pigmentosa 75 |
|
Myopia, Nyctalopia, Peripheral visual field loss, Mixed astigmatism |
OMIM:617023 |
Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Mevalonic Aciduria |
|
Ataxia, Blue sclerae |
ORPHA:29 |
Flynn-Aird Syndrome |
|
Myopia, Ataxia |
OMIM:136300 |
Developmental And Epileptic Encephalopathy 66 |
|
Astigmatism, Hypermetropia, Myopia, Broad-based gait |
OMIM:618067 |
Tetanus |
|
Hypertension, Dysphagia, Bradycardia, Tachycardia |
ORPHA:3299 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Ventricular tachycardia, Cardiomyopathy, Irritability, Arrhythmia, Hypotension |
ORPHA:159 |
Stuve-Wiedemann Syndrome 1 |
|
Respiratory insufficiency, Flexion contracture of toe, Pulmonary arterial medial hypertrophy, Apn... |
OMIM:601559 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Gait disturbance, Blue sclerae |
ORPHA:2840 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Gastrointestinal hemorrhage, Tetralogy of Fallot, Abnormal pulmo... |
ORPHA:974 |
Van Bogaert-Hozay Syndrome |
|
Myopia, Astigmatism |
OMIM:277150 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Pulmonary arterial hypertension, Congestive heart failure, Sleep apnea |
OMIM:616482 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Pulmonary arteri... |
ORPHA:210122 |
Hereditary Hemorrhagic Telangiectasia |
|
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... |
ORPHA:774 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Thrombocytopenia, Lethargy |
ORPHA:49827 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Myopia, Attention deficit hyperactivity disorder |
ORPHA:444002 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Neuroleptic Malignant Syndrome |
|
Hypertension, Dysphagia, Thrombocytosis, Thrombocytopenia, Hypertensive crisis, Tachycardia, Brad... |
ORPHA:94093 |
Tempi Syndrome |
|
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Tra... |
ORPHA:284227 |
Myotonic Dystrophy 2 |
|
Palpitations, Decreased circulating IgG level, Tachycardia, Decreased circulating total IgM |
OMIM:602668 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Small for gestational age, Ventricular tachycardia... |
ORPHA:26793 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Progressive visual loss, Myopia, Dyschromatopsia |
OMIM:264420 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hypertension, Atrial fibrillation, Polyphagia, Polydipsia, Palpitations, Failure to ... |
ORPHA:525731 |