Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... |
OMIM:265400 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... |
OMIM:253700 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... |
OMIM:106700 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch morphology, Dextrotransposition of t... |
ORPHA:860 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Trimethylaminuria |
|
Hypertension, Tachycardia, Depression |
OMIM:602079 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... |
ORPHA:2414 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Facial palsy, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmona... |
OMIM:612387 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Spastic ataxia, Myopia |
OMIM:271320 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... |
ORPHA:324604 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... |
ORPHA:2041 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... |
ORPHA:563 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Myopia, Ataxia, Gait disturbance |
ORPHA:2572 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment |
OMIM:303700 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Confusion, Depression |
OMIM:121300 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Glaucoma, Primary Open Angle |
|
Myopia |
OMIM:137760 |
Myopia 18, Autosomal Recessive |
|
Myopia |
OMIM:255500 |
Myopia 9 |
|
Myopia |
OMIM:609258 |
Myopia 10 |
|
Myopia |
OMIM:609259 |
Myopia 7 |
|
Myopia |
OMIM:609256 |
Myopia 8 |
|
Myopia |
OMIM:609257 |
Myopia 15, Autosomal Dominant |
|
Myopia |
OMIM:612717 |
Myopia 1, X-Linked |
|
Myopia |
OMIM:310460 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pulmonary artery at... |
ORPHA:99050 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... |
ORPHA:185 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Foot joint contracture, Pulmonary fibrosis, Pulmonary arterial hypert... |
ORPHA:220402 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Choroideremia |
|
Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment |
ORPHA:180 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension |
OMIM:619003 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Glaucoma 1, Open Angle, A |
|
Myopia |
OMIM:137750 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Myopia |
OMIM:174310 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... |
ORPHA:70588 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Myopia |
OMIM:600510 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Cataract 12, Multiple Types |
|
Myopia |
OMIM:611597 |
Ã…land Islands Eye Disease |
|
Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, Astigmatism, Color vision... |
ORPHA:178333 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Achromatopsia |
|
Myopia, Abnormality of refraction, Central scotoma, Monochromacy, Reduced visual acuity, Hypermet... |
ORPHA:49382 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect |
OMIM:304020 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly |
OMIM:619751 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Hy... |
ORPHA:1457 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Myopia, Spastic gait |
ORPHA:320396 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... |
ORPHA:98764 |
5Q35 Microduplication Syndrome |
|
Myopia |
ORPHA:228415 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula... |
OMIM:601005 |
Cataract 42 |
|
Myopia |
OMIM:115900 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysp... |
ORPHA:79264 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insu... |
ORPHA:1166 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Heparin-Induced Thrombocytopenia |
|
Cerebral ischemia, Myocardial infarction, Pulmonary embolism |
ORPHA:3325 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Retinal Cone Dystrophy 3B |
|
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Astigmatism |
OMIM:610356 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Sveinsson Chorioretinal Atrophy |
|
Myopia, Astigmatism |
OMIM:108985 |
Cone-Rod Dystrophy 24 |
|
Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio... |
OMIM:620342 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... |
ORPHA:980 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... |
ORPHA:3077 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... |
ORPHA:2038 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Oguchi Disease |
|
Myopia, Abnormality of refraction, Diplopia, Visual field defect, Congenital stationary night bli... |
ORPHA:75382 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Ataxia |
OMIM:618970 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Congenital Stationary Night Blindness |
|
Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund... |
ORPHA:215 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrophic cardiomyop... |
ORPHA:276556 |
Manganese Poisoning |
|
Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Memory impairment, Irritabi... |
ORPHA:306682 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... |
OMIM:155100 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... |
ORPHA:98915 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Dysphagia |
OMIM:255100 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... |
ORPHA:199241 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... |
ORPHA:3384 |
Achromatopsia 3 |
|
Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe... |
OMIM:262300 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Agitation, Increased body weight, Progressive neurologic deterioration |
ORPHA:276608 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... |
OMIM:300887 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, R... |
ORPHA:171445 |
Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, Pulmonary arterial hyp... |
OMIM:212350 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrophic cardiomyop... |
ORPHA:276575 |
Huntington Disease |
|
Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, Ment... |
ORPHA:399 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Myopia, Central scotoma, Reduced visual acuity, Photophobia, Astigmatism, Visual impairment, Colo... |
OMIM:300476 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Hypertrophic cardiomyop... |
ORPHA:276580 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Respirat... |
ORPHA:90308 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Aland Island Eye Disease |
|
Myopia, Severely reduced visual acuity, Astigmatism |
OMIM:300600 |
Adams-Oliver Syndrome 5 |
|
Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Pulmonary arterial hypertension, ... |
OMIM:616028 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Myo... |
ORPHA:81 |
Retinal Capillary Malformation |
|
Myopia, Blindness, Photopsia, Amblyopia, Vitreous floaters, Anisometropia, Reduced visual acuity,... |
ORPHA:71213 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Large for gestational age, Syncope, Agitation, Palpitatio... |
ORPHA:324575 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Myopia, Spastic gait |
OMIM:613162 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Myopia, Visual impairment |
ORPHA:1574 |
Retinitis Pigmentosa 1 |
|
Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity |
OMIM:180100 |
Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto... |
OMIM:312600 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Dyspnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Hyper... |
OMIM:230800 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Myopia |
OMIM:614199 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Night Blindness, Congenital Stationary, Type 1C |
|
Congenital stationary night blindness, Myopia, Reduced visual acuity |
OMIM:613216 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder |
OMIM:615401 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Stiff-Person Syndrome |
|
Hypertension, Exaggerated startle response, Tachycardia, Depression |
OMIM:184850 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchie... |
OMIM:620233 |
Braddock Syndrome |
|
Congenital muscular torticollis, Neonatal respiratory distress, Pulmonary arterial hypertension, ... |
ORPHA:52047 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Retinitis Pigmentosa 3 |
|
Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my... |
OMIM:300029 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Hepato... |
ORPHA:75249 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Myopia, Broad-based gait, Ataxia, Inability to walk |
OMIM:616756 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Macular Dystrophy With Central Cone Involvement |
|
Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, High myopia, Visual impairment |
OMIM:616170 |
Polydactyly-Myopia Syndrome |
|
Myopia |
ORPHA:2917 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy |
ORPHA:335 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
Cone-Rod Dystrophy 20 |
|
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, High myopia, Tri... |
OMIM:615973 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Irritability, Hypertension, Agitation, Hypotension, Mental ... |
ORPHA:43116 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Night Blindness, Congenital Stationary, Type 1E |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia |
OMIM:614565 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... |
ORPHA:240094 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Myopia, Visual impairment |
OMIM:600790 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... |
OMIM:265380 |
Retinal Cone Dystrophy 3A |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
Wagner Vitreoretinopathy |
|
Visual loss, Myopia, Visual field defect |
OMIM:143200 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Apnea, Type 1 muscle fiber predominance, Right ve... |
OMIM:612949 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Camptodactyly of finger, Th... |
OMIM:607015 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Leukodystrophy, Hypomyelinating, 25 |
|
Blue sclerae, Gait ataxia |
OMIM:620243 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Flexion contracture, Recurrent upper respiratory tract infection... |
ORPHA:391372 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
16P11.2P12.2 Microduplication Syndrome |
|
Myopia |
ORPHA:261204 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
Perry Syndrome |
|
Akinesia, Frontotemporal dementia, Depression, Weight loss, Inappropriate behavior, Disinhibition... |
OMIM:168605 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, Pulmonary fib... |
ORPHA:220393 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Raynaud phenomenon,... |
ORPHA:206572 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Bornholm Eye Disease |
|
Deuteranopia, Amblyopia, High myopia, Astigmatism, Protanopia |
OMIM:300843 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Lethargy, Failure to thrive |
ORPHA:2089 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Tachypnea, Hypertension, Atrial septal defect, Pu... |
OMIM:613834 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Depression, Weight loss, Dementia, Agitation, Low frustration tolerance, S... |
ORPHA:411602 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... |
OMIM:613873 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Retinal Dystrophy And Obesity |
|
Myopia, Astigmatism, Reduced visual acuity, Visual impairment |
OMIM:616188 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Visual impairment |
ORPHA:75373 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... |
ORPHA:258 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... |
OMIM:608149 |
Acquired Methemoglobinemia |
|
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Unsteady gait, Type II diabetes mellitus |
OMIM:520000 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myopia, Inability to walk, Dysmetria, Gait ataxia, Visual impairment |
OMIM:617810 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Respiratory insufficiency, Hypertension, Second degr... |
OMIM:617021 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased p... |
ORPHA:70591 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ... |
ORPHA:363705 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Agitation |
OMIM:613870 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality... |
ORPHA:848 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit... |
OMIM:304700 |
Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Hypertension, Hypotension |
ORPHA:330021 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... |
OMIM:615285 |
Hypertryptophanemia |
|
Myopia, Visual impairment |
OMIM:600627 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Moderately reduced visual acuity, Visual acuity light perception with projection, ... |
ORPHA:2788 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Dysplastic aortic valve, Aortic ... |
ORPHA:3093 |
Myopia 23, Autosomal Recessive |
|
Reduced visual acuity, Visual impairment, High myopia |
OMIM:615431 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
Myopia 22, Autosomal Dominant |
|
Reduced visual acuity, High myopia |
OMIM:615420 |
Cone-Rod Dystrophy 18 |
|
Central scotoma, Reduced visual acuity, High myopia |
OMIM:615374 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocarditis, Dyspnea, Splenome... |
ORPHA:809 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Night Blindness, Congenital Stationary, Type 1F |
|
Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia |
OMIM:615058 |
Marchiafava-Bignami Disease |
|
Ataxia, Confusion, Aggressive behavior, Depression, Gait ataxia, Dementia, Abnormal emotion, Gait... |
ORPHA:221074 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atrial septal defect, Abnormality of the p... |
ORPHA:290 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm mo... |
ORPHA:2257 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:613759 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... |
ORPHA:86812 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Memory impairment, Tachycardia, Obesity |
OMIM:619737 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collateral... |
OMIM:620025 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea... |
ORPHA:31826 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Familial Thrombocytosis |
|
Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Syncope, Cerebral ischemia... |
ORPHA:71493 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Pulmonary arterial hypertension, Tachypnea, Coarctation of aorta |
OMIM:614857 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Tachycardia, Attention deficit hyperactivity disorder, Skin-picking, ... |
ORPHA:485405 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Polydipsia, Weight loss |
ORPHA:30925 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Unsteady gait, Decreased circulating antibody level, Gait disturbance, Abnormal platelet ... |
ORPHA:2585 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension |
OMIM:619059 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... |
OMIM:614921 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... |
OMIM:231200 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy... |
OMIM:613404 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Myopia |
OMIM:609508 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Aplasia/Hypopla... |
ORPHA:3309 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Myopia, Ataxia, Inability to walk, Hypermetropia, Astigmatism |
OMIM:619556 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... |
ORPHA:97214 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Blue sclerae |
ORPHA:66633 |
Lamb-Shaffer Syndrome |
|
Myopia |
OMIM:616803 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Dysphagia |
ORPHA:3299 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... |
OMIM:601399 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Cln3 Disease |
|
Ataxia, Aggressive behavior, Mental deterioration, Depression, T-wave inversion, Dementia, Bradyc... |
ORPHA:228346 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Bradycardia, Pulmonary arterial hypertension |
OMIM:619272 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im... |
ORPHA:247234 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Thrombocytopenia |
ORPHA:49827 |
Neuroectodermal Melanolysosomal Disease |
|
Myopia, Ataxia |
ORPHA:33445 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Myopia |
OMIM:300210 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val... |
OMIM:267010 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morpho... |
ORPHA:1666 |
Methanol Poisoning |
|
Confusion, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria... |
ORPHA:31825 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... |
ORPHA:90065 |
Mevalonic Aciduria |
|
Blue sclerae, Ataxia |
ORPHA:29 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
Mehmo Syndrome |
|
Inability to walk, Myopia, Difficulty walking, Gait ataxia |
OMIM:300148 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Tularemia |
|
Tachycardia, Increased circulating antibody level, Confusion, Thrombocytopenia |
ORPHA:3392 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Blue sclerae, Gait disturbance |
ORPHA:2840 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Confusion, Heart block, Capillary leak, Reduced left ventricular ejection fraction, ... |
ORPHA:542323 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... |
OMIM:208085 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
Cone-Rod Dystrophy 19 |
|
Reduced visual acuity, High myopia |
OMIM:615860 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Myopia, Ataxia |
ORPHA:3363 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Myopia, Visual impairment |
ORPHA:2786 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia |
OMIM:229700 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia |
OMIM:617243 |
Flynn-Aird Syndrome |
|
Myopia, Ataxia |
OMIM:136300 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis |
OMIM:605735 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Central Diabetes Insipidus |
|
Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive |
ORPHA:178029 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ataxia, Aggressive behavior, Dilated cardiomyopathy, Gait ataxia, Irritability |
OMIM:618321 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
High Altitude Pulmonary Edema |
|
Tachycardia, Anorexia |
ORPHA:330012 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Myopia, Astigmatism, Amblyopia |
OMIM:620021 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Myopia, Ataxia, Dysmetria |
OMIM:618688 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Atelectasis, Recurrent pneumo... |
OMIM:613177 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Mental deterioration, Dementia, Akinesia, Aggressive behavior |
OMIM:300894 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... |
OMIM:613845 |
Laron Syndrome |
|
Blue sclerae |
OMIM:262500 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... |
OMIM:187900 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Cellulitis, Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility |
OMIM:266265 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Dyschromatopsia, Progressive visual loss |
OMIM:264420 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Congestive heart failure, Hypertension, Irritability, Palpita... |
ORPHA:525731 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Progressive neurologic deterioration, Large for gestational age, Increased body weig... |
ORPHA:263455 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnorma... |
ORPHA:100924 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... |
ORPHA:210122 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Myopia, Ataxia |
ORPHA:833 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Depression |
OMIM:176000 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ... |
ORPHA:974 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory failure, Facial paralysis, Respiratory insufficiency |
OMIM:605711 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Van Bogaert-Hozay Syndrome |
|
Myopia, Astigmatism |
OMIM:277150 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Leukodystrophy, Hypomyelinating, 11 |
|
Myopia, Ataxia |
OMIM:616494 |
Acute Zonal Occult Outer Retinopathy |
|
Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Abnor... |
ORPHA:284454 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis |
ORPHA:1131 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Myopia, Difficulty walking |
OMIM:611890 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of... |
ORPHA:284227 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia |
ORPHA:368 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Broad-based gait, Blue sclerae, Reduced visual acuity |
OMIM:618707 |
Cataract-Microcornea Syndrome |
|
Myopia |
ORPHA:1377 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent foramen ovale, Proximal muscle weakness in lower limbs, Aortic root aneurysm, Atrial septa... |
ORPHA:280633 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cardiac arrest, Oral-pharyngeal dysphagia, Ventricular tachycardia, Gait ataxia, Gait dis... |
OMIM:616878 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Visual impairment, Nyctalopia |
OMIM:258870 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Blue sclerae |
OMIM:617051 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Acute Intermittent Porphyria |
|
Restlessness, Tachycardia, Confusion, Depression, Hypertension, Pseudobulbar paralysis, Mental de... |
ORPHA:79276 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s... |
OMIM:193400 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... |
ORPHA:505248 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Prolonged prothrombin time, Hypotension, Thrombocytopenia |
ORPHA:91547 |
Ophthalmoplegia, External, And Myopia |
|
Myopia |
OMIM:311000 |
Systemic Sclerosis |
|
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis... |
ORPHA:90291 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hypertension, Arteriosclerosis of small cere... |
ORPHA:1830 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
White Forelock With Malformations |
|
Myopia, Blue sclerae |
ORPHA:2475 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Double outlet right ventricle, Single ventric... |
OMIM:620294 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai... |
ORPHA:240071 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Myopia, Ataxia, Hypermetropia, Amblyopia |
ORPHA:370022 |
Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Myopia, Unsteady gait |
OMIM:617435 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Myopia |
OMIM:110150 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Myopia, Unsteady gait, Hypermetropia |
OMIM:618092 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... |
ORPHA:26793 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... |
OMIM:602668 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Abnormal myocardium morphology, Splenomegaly, Abnormal pulmon... |
ORPHA:77259 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Myopia, Unsteady gait |
OMIM:300614 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Grant Syndrome |
|
Blue sclerae |
OMIM:138930 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Joint hemorr... |
ORPHA:324636 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Irritability, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
Stickler Syndrome, Type Vi |
|
Moderate myopia, Astigmatism, High myopia |
OMIM:620022 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Hepatomegaly, Crackles, Raynaud phenomenon, Respiratory tract infection... |
ORPHA:79128 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal d... |
ORPHA:2519 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Gait disturbance |
OMIM:604484 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Dyspnea, Arteriosclerosis, Hypertension, Cerebral ischemia, Pulmonary ... |
OMIM:242900 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopia |
ORPHA:1369 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Hypertensive crisis, Pulmonary embolism, Hypertension, Agitation, Bradycardia, Hypot... |
ORPHA:94093 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Myopia 17, Autosomal Dominant |
|
High myopia |
OMIM:608367 |
Usher Syndrome Type 2 |
|
Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia |
ORPHA:231178 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia |
OMIM:606693 |
Aplasia Cutis Congenita, High Myopia, And Cone-Rod Dysfunction |
|
High myopia |
OMIM:601075 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Myopia, Dysmetria, Gait ataxia, Difficulty walking, Visual impairment |
ORPHA:529665 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Mildly reduced visual acuity, High myopia, Vitreous floaters |
OMIM:614292 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... |
OMIM:616449 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... |
OMIM:614185 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Brittle Cornea Syndrome 2 |
|
Myopia, Blue sclerae, Gait disturbance |
OMIM:614170 |
4H Leukodystrophy |
|
Myopia, Ataxia, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
ORPHA:289494 |
Myopia 6 |
|
High myopia |
OMIM:608908 |
Myopia 19, Autosomal Dominant |
|
High myopia |
OMIM:613969 |
Myopia 24, Autosomal Dominant |
|
High myopia |
OMIM:615946 |
Myopia 21, Autosomal Dominant |
|
High myopia |
OMIM:614167 |
Myopia 26, X-Linked, Female-Limited |
|
High myopia |
OMIM:301010 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contracture, Recurrent up... |
OMIM:253200 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia |
OMIM:609286 |
Parietal Foramina 1 |
|
Blue sclerae |
OMIM:168500 |
Retinitis Pigmentosa 75 |
|
Myopia, Nyctalopia, Peripheral visual field loss, Mixed astigmatism |
OMIM:617023 |
Deafness And Myopia |
|
High myopia |
OMIM:221200 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Myopia |
ORPHA:2743 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Myopia, Visual impairment |
ORPHA:1067 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Emotional lability, Orthostatic hypotension, Tachycardia, Hypertension |
OMIM:223900 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... |
ORPHA:221 |
Retinitis Pigmentosa 51 |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment |
OMIM:613464 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia, Dysphagia, Failure to thriv... |
OMIM:613327 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Hepatomegaly, Mitral valve calcification, Abnormal heart valve ... |
ORPHA:77261 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thromboc... |
OMIM:603585 |
Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Progressive visual loss, Progressive ... |
ORPHA:414 |
Albinism, Oculocutaneous, Type Ii |
|
Myopia, Reduced visual acuity, Visual impairment |
OMIM:203200 |
Grubben-De Cock-Borghgraef Syndrome |
|
Blue sclerae |
ORPHA:2101 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Dyspnea, Flexion contracture, Right atrial enlargement, Right bundle bra... |
OMIM:614008 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Hepatomegaly, Cor triatriatum, Secundum atrial septal defect, S... |
OMIM:612541 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomeg... |
OMIM:602782 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Myopia |
ORPHA:96183 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Palpitations, Hypotension, ... |
OMIM:263800 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:600376 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Myopia, Ataxia, Unsteady gait, Difficulty walking |
ORPHA:464282 |
Epiphyseal Dysplasia Of Femoral Head, Myopia, And Deafness |
|
High myopia |
OMIM:226950 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Myopia, Astigmatism |
OMIM:248000 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Myopathic Ehlers-Danlos Syndrome |
|
Myopia, Blue sclerae, Tip-toe gait |
ORPHA:536516 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Myopia |
ORPHA:126 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggreg... |
OMIM:153670 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss |
OMIM:613239 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Stickler Syndrome Type 2 |
|
Myopia |
ORPHA:90654 |
Pagod Syndrome |
|
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h... |
ORPHA:991 |
Postencephalitic Parkinsonism |
|
Abnormal aggressive, impulsive or violent behavior, Dysphagia, Akinesia, Depression |
ORPHA:97349 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Loss of ambulation, Myopia |
ORPHA:370968 |
Autosomal Recessive Stickler Syndrome |
|
Myopia, Astigmatism, Amblyopia |
ORPHA:250984 |
Hereditary Methemoglobinemia |
|
Athetosis, Blue sclerae |
ORPHA:621 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve... |
ORPHA:99827 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Respir... |
OMIM:254940 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop... |
OMIM:618986 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia, Failure to thrive in infancy |
ORPHA:264675 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Dyspnea, Pulmonary arterial hypertension, Congenital contracture, Atrial septal defect |
ORPHA:261279 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Facial hy... |
ORPHA:308552 |
Brittle Cornea Syndrome 1 |
|
Visual loss, Myopia, Blue sclerae |
OMIM:229200 |
Mgat2-Cdg |
|
Failure to thrive, Decreased circulating antibody level, Reflex asystolic syncope, Arrhythmia, De... |
ORPHA:79329 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Myopia, Gait disturbance, Visual impairment |
ORPHA:272 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresi... |
OMIM:612946 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Folinic Acid-Responsive Seizures |
|
Myopia, Broad-based gait, Ataxia, Difficulty walking |
ORPHA:79097 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, V... |
ORPHA:36913 |
Corticobasal Syndrome |
|
Memory impairment, Dementia, Gait disturbance, Akinesia |
ORPHA:454887 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Myopia, Hypermetropia |
OMIM:619595 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pulmonary int... |
OMIM:181000 |
Night Blindness, Congenital Stationary, Type 1B |
|
Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness |
OMIM:257270 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Mitral valve prolapse, Coarctation of aorta, Atrial septal defe... |
ORPHA:93932 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Myopia |
ORPHA:444002 |
Optic Atrophy 11 |
|
Myopia, Ataxia, Amblyopia, Gait apraxia, Dysmetria, Hypermetropia, Athetosis, Visual impairment |
OMIM:617302 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig... |
ORPHA:1302 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... |
ORPHA:90060 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restrictive ventilatory d... |
ORPHA:2905 |
Cholera |
|
Irritability, Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Intellectual Developmental Disorder, X-Linked 92 |
|
High myopia |
OMIM:300851 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopia |
ORPHA:300179 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Confusion, Hematemesis, Capillary leak, Intracranial hemorrhage, M... |
ORPHA:340 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... |
OMIM:616482 |
Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Mild myopia, Photophobia, Severely reduced visual acuity... |
OMIM:300424 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia |
ORPHA:139411 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Myopia |
OMIM:613151 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Congestiv... |
ORPHA:466677 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Myopia, Ataxia, Visual loss, Reduced visual acuity, Dysmetria, Progressive visual loss, Loss of a... |
OMIM:615491 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Respiratory insufficienc... |
OMIM:601559 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Myopia |
OMIM:613155 |
Bardet-Biedl Syndrome 21 |
|
Myopia, Blindness, Constriction of peripheral visual field |
OMIM:617406 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Developmental And Epileptic Encephalopathy 66 |
|
Myopia, Broad-based gait, Astigmatism, Hypermetropia |
OMIM:618067 |
Harel-Yoon Syndrome |
|
Inability to walk, Myopia, Ataxia |
OMIM:617183 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pul... |
OMIM:601186 |
Myopia 3, Autosomal Dominant |
|
High myopia |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
High myopia |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
High myopia |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
High myopia |
OMIM:617238 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Chromosome 16Q12 Duplication Syndrome |
|
Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly |
OMIM:619649 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Inability to walk, High myopia, Athetosis, Blue sclerae |
ORPHA:357058 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Blue sclerae |
OMIM:259410 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Pontocerebellar Hypoplasia, Type 1F |
|
Blue sclerae |
OMIM:619304 |
Myopia 27, Autosomal Dominant |
|
High myopia |
OMIM:618827 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Tachycardia |
ORPHA:348 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Myopia, Nyctalopia |
ORPHA:1390 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Myopia |
ORPHA:2325 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Pulmonary a... |
ORPHA:231222 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Myopia, Gait ataxia |
OMIM:618800 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart murmur, C... |
ORPHA:3426 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Xp22.3 Microdeletion Syndrome |
|
Myopia |
ORPHA:1643 |
X-Linked Intellectual Disability, Najm Type |
|
Myopia, Gait disturbance, Visual impairment |
ORPHA:163937 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Blue sclerae, Limb ataxia, Truncal ataxia |
OMIM:617101 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:215600 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Loss of ambulation, Myopia, Ataxia, Dysmetria |
OMIM:607694 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Thrombocytopenia |
OMIM:141000 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Anorexia, Cachexia, Myo... |
ORPHA:3452 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,... |
OMIM:210370 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Tachycardia, Small for gestational age |
OMIM:609152 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... |
OMIM:614075 |
Usher Syndrome |
|
Myopia, Blindness, Ataxia, Nyctalopia, Visual field defect, Astigmatism, Progressive visual loss,... |
ORPHA:886 |
Myopia 28, Autosomal Recessive |
|
High myopia |
OMIM:619781 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
Ogden Syndrome |
|
Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... |
OMIM:300855 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Scleromyxedema |
|
Transient ischemic attack, Raynaud phenomenon, Abnormal lung morphology, Abnormal skeletal muscle... |
ORPHA:167635 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated... |
ORPHA:550 |
Graft Versus Host Disease |
|
Irritability, Tachycardia, Failure to thrive |
ORPHA:39812 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Myopia |
OMIM:203550 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Myopia, Amblyopia, Cerebral visual impairment, Reduced visual acuity, Hypermetropia, Visual field... |
ORPHA:401777 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension |
OMIM:620029 |
Silver-Russell Syndrome 2 |
|
Blue sclerae |
OMIM:618905 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Inability to walk, Myopia, Blue sclerae, Gait ataxia |
OMIM:619383 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Double outlet right ventricle, Pulmo... |
ORPHA:163956 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Visual loss, Myopia |
ORPHA:77300 |
Leber Congenital Amaurosis 15 |
|
Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia... |
OMIM:613843 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Aceruloplasminemia |
|
Ataxia, Akinesia, Congestive heart failure, Limb ataxia, Gait ataxia, Cognitive impairment, Memor... |
ORPHA:48818 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Sjögren-Larsson Syndrome |
|
Photophobia, Myopia |
ORPHA:816 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Myopia |
OMIM:132450 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Neutropeni... |
ORPHA:101096 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Blue sclerae |
ORPHA:2324 |
Sinus Node Disease And Myopia |
|
High myopia |
OMIM:182190 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Confusion, Myocarditis, Capillary leak, Hypotension, Thrombocytopenia |
ORPHA:36234 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Myopia, Ataxia, Dysmetria, Gait ataxia, High myopia, Dysdiadochokinesis |
OMIM:614381 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hyperten... |
ORPHA:464738 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis |
ORPHA:403 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Blindness, Ataxia, Inability to walk, Visual loss, Reduced visual acuity, Astigmatism, Ga... |
ORPHA:168491 |
Muscle-Eye-Brain Disease |
|
Myopia, Gait disturbance, Visual impairment |
ORPHA:588 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
High myopia |
OMIM:301076 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia... |
OMIM:617591 |
Osteogenesis Imperfecta, Type Xiv |
|
Blue sclerae |
OMIM:615066 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Ataxia, Hypertension, Gait disturbance |
ORPHA:1764 |
Sepsis In Premature Infants |
|
Tachycardia, Small for gestational age, Bradycardia, Hypotension, Decreased body weight, Thromboc... |
ORPHA:90051 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Blue sclerae, Truncal ataxia, Gait ataxia |
OMIM:616817 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Blue sclerae |
ORPHA:457365 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Depression |
OMIM:604928 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Flynn-Aird Syndrome |
|
Myopia, Ataxia, Visual impairment |
ORPHA:2047 |
Retinitis Pigmentosa 72 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia |
OMIM:616469 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Facial palsy, Atrial septal defect, Pulmonary arterial hyperten... |
OMIM:620186 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ... |
OMIM:610338 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... |
OMIM:234200 |
Microcoria, Congenital |
|
Myopia |
OMIM:156600 |
Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Myopia, Amblyopia, Hypermetropia, Astigmatism, Visual impairment |
ORPHA:284169 |
Periventricular Nodular Heterotopia 7 |
|
Myopia, Ataxia, Cerebral visual impairment |
OMIM:617201 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Blue sclerae |
ORPHA:157965 |
Developmental And Epileptic Encephalopathy 28 |
|
Blue sclerae |
OMIM:616211 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Myopia, Myopic astigmatism, Reduced visual acuity, Hypermetropia, Astigmatism |
OMIM:152950 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Pulmonary arter... |
OMIM:618454 |
Stickler Syndrome Type 1 |
|
Visual loss, Myopia |
ORPHA:90653 |
Hermansky-Pudlak Syndrome 8 |
|
Myopia, Myopic astigmatism, Moderate hypermetropia, Reduced visual acuity, Hypermetropia, High my... |
OMIM:614077 |
Desanto-Shinawi Syndrome |
|
Myopia, Astigmatism |
OMIM:616708 |
Poretti-Boltshauser Syndrome |
|
Myopia, Amblyopia |
OMIM:615960 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Split-Hand/Foot Malformation 3 |
|
Myopia |
OMIM:246560 |
Leukodystrophy, Hypomyelinating, 2 |
|
Choreoathetosis, Myopia, Ataxia |
OMIM:608804 |
Pontocerebellar Hypoplasia, Type 8 |
|
Myopia, Cerebral visual impairment, Hypermetropia, Gait ataxia, Astigmatism |
OMIM:614961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Inability to walk, Myopia |
OMIM:613156 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Blue sclerae |
ORPHA:2772 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Myopia, Blue sclerae, Reduced visual acuity, Visual impairment |
OMIM:177850 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Blue sclerae, Gait disturbance, Gait imbalance, Difficulty walking, Visual impairment |
ORPHA:488627 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen... |
ORPHA:667 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Myopia, Astigmatism |
OMIM:615761 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Lef... |
OMIM:212093 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Stickler Syndrome, Type Iv |
|
Astigmatism, High myopia |
OMIM:614134 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia |
OMIM:609454 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia |
ORPHA:251274 |
Marshall-Smith Syndrome |
|
Apnea, Ventricular septal defect, Dysplastic aortic valve, Recurrent upper respiratory tract infe... |
OMIM:602535 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... |
OMIM:613179 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Myopia |
OMIM:618522 |
Stiff Skin Syndrome |
|
Myopia |
OMIM:184900 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Confusion, Anorexia, Aggressive behavior, Hypovolemia, Capillar... |
ORPHA:99826 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Umbi... |
OMIM:617237 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... |
ORPHA:401935 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra... |
ORPHA:391487 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Confusion, Obesity, Depression, Choreoathetosis, Irritability, Hypertensio... |
ORPHA:79443 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Weight loss, Syncope, Hypotension, Abnormal mast cell morphology, Thrombocytopenia |
ORPHA:98849 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopia, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
Grant Syndrome |
|
Blue sclerae |
ORPHA:2097 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Blue sclerae |
ORPHA:231137 |
Night Blindness, Congenital Stationary, Type 1A |
|
Hemeralopia, Congenital stationary night blindness, High myopia |
OMIM:310500 |
Viss Syndrome |
|
Epidural hemorrhage, Right ventricular dilatation, Atrial septal defect, Emphysema, Patent forame... |
OMIM:619472 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Subvalvular aortic stenosis |
ORPHA:65286 |
Ochoa Syndrome |
|
Hypertension, Polydipsia |
ORPHA:2704 |
Combined Oxidative Phosphorylation Deficiency 35 |
|
Myopia |
OMIM:617873 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Waddling gait, Blue sclerae |
OMIM:612350 |
Pseudodiastrophic Dysplasia |
|
Blue sclerae |
OMIM:264180 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... |
ORPHA:3226 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, ... |
ORPHA:169160 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Mit... |
ORPHA:314585 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Right aorti... |
ORPHA:2326 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Osteogenesis Imperfecta, Type Ix |
|
Blue sclerae |
OMIM:259440 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalac... |
OMIM:234100 |
Desbuquois Syndrome |
|
Blue sclerae |
ORPHA:1425 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
Cranioectodermal Dysplasia |
|
Myopia, High hypermetropia |
ORPHA:1515 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Unsteady gait, Gait disturbance |
OMIM:601455 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Jaw claudication, Depression, Weight loss, Syncope, Bradycardia |
ORPHA:221098 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Waddling gait, Myopia, Antalgic gait |
ORPHA:166011 |
Osteogenesis Imperfecta, Type Xix |
|
Blue sclerae |
OMIM:301014 |
Osteogenesis Imperfecta, Type V |
|
Blue sclerae |
OMIM:610967 |
Jaberi-Elahi Syndrome |
|
Myopia, Broad-based gait, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, Visual impa... |
OMIM:617988 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... |
ORPHA:3427 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular... |
ORPHA:466791 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Myopia, Cerebral visual impairment, Amblyopia, Inability to walk, Unsteady gait, Hypermetropia, A... |
OMIM:618493 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, Respiratory insuff... |
ORPHA:800 |
Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Myopia, Blindness |
OMIM:615181 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Bardet-Biedl Syndrome 19 |
|
Myopia |
OMIM:615996 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage... |
ORPHA:464 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... |
ORPHA:355 |
X-Linked Recessive Ocular Albinism |
|
Photophobia, Myopia, Astigmatism, Visual impairment |
ORPHA:54 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Myopia |
ORPHA:2196 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Polydipsia, Palpitations, Epistaxis |
ORPHA:231580 |
Albinism, Oculocutaneous, Type Ia |
|
Myopia, Abnormality of refraction, Reduced visual acuity, Photophobia, Astigmatism, Visual impair... |
OMIM:203100 |
Stickler Syndrome, Type Ii |
|
Myopia |
OMIM:604841 |
Osteogenesis Imperfecta, Type Xv |
|
Blue sclerae |
OMIM:615220 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Gait disturbance |
ORPHA:2971 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Bidirectional shunt... |
OMIM:619351 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio... |
OMIM:619573 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Asthma, Abnormal heart morphology, Macroglos... |
ORPHA:444077 |
Microphthalmia, Isolated, With Corectopia |
|
Myopia |
OMIM:156900 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Aortic valve... |
ORPHA:740 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Photophobia, Myopia, Nyctalopia, Visual loss |
ORPHA:5 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98855 |
Lymphatic Malformation 13 |
|
Mitral regurgitation, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale... |
OMIM:620244 |
Congenital Myopathy 20 |
|
Blue sclerae |
OMIM:620310 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Ventricular hypertrophy, Medial calcification of large arteries, Transient ... |
ORPHA:51608 |
Lysosomal Acid Lipase Deficiency |
|
Precocious atherosclerosis, Bone-marrow foam cells, Hypovolemia, Hepatosplenomegaly, Hypotension,... |
ORPHA:275761 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Portal hypertension, Wheezing, Respiratory insufficiency, Co... |
OMIM:620005 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Gaucher Disease, Perinatal Lethal |
|
Progressive neurologic deterioration, Akinesia, Dysphagia, Decreased body weight, Thrombocytopenia |
OMIM:608013 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Spider hemangioma, Recurrent upper respiratory tract infections, Hypertension, Pulm... |
OMIM:232240 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h... |
ORPHA:79282 |
Trigeminal Neuralgia |
|
Allodynia, Depression |
ORPHA:221091 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... |
ORPHA:60025 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Myopia, Ataxia, Inability to walk, Dysmetria, Astigmatism |
OMIM:619576 |
Insulin-Resistance Syndrome Type B |
|
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Increased body... |
ORPHA:2298 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Blue sclerae |
ORPHA:391408 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98853 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia |
OMIM:601104 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Myopia |
OMIM:615433 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Cornelia De Lange Syndrome 5 |
|
Myopia |
OMIM:300882 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Congenital diaphr... |
OMIM:312870 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Myopia, Spastic gait, Gait ataxia |
ORPHA:496790 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Weight loss |
ORPHA:71273 |
Frontoocular Syndrome |
|
Myopia |
OMIM:605321 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Imbalanced hemoglob... |
ORPHA:330015 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Myopia, Ataxia, Dysmetria |
ORPHA:447896 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Polydipsia, Failure to thrive |
OMIM:125800 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Hyperglycemia |
OMIM:615954 |
Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, In... |
ORPHA:86309 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Failure to thrive |
OMIM:304800 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Blue sclerae |
OMIM:615539 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl... |
ORPHA:274 |
Cardiofaciocutaneous Syndrome 2 |
|
Myopia |
OMIM:615278 |
Phakomatosis Pigmentovascularis |
|
Blue sclerae |
ORPHA:2875 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Blue sclerae |
OMIM:619638 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Myopic astigmatism, Myopia |
OMIM:617802 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypoxemia, Pulmonary arterial hypertension, Recurrent respiratory infections |
ORPHA:2282 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Parachute mitr... |
OMIM:618316 |
Cystinosis |
|
Portal hypertension, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Myopia, Unsteady gait, Astigmatism, Gait ataxia |
OMIM:618109 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Blue sclerae |
ORPHA:464288 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Myopia, Astigmatism, Hypermetropia, Cerebral visual impairment |
OMIM:616875 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific... |
ORPHA:2072 |
Laron Syndrome |
|
Blue sclerae |
ORPHA:633 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Blue sclerae |
OMIM:619286 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Dementia, Akinesia |
OMIM:616840 |
Aplasia Cutis-Myopia Syndrome |
|
High myopia |
ORPHA:1117 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Addictive alcohol use, Confusion, Hypotension |
ORPHA:36238 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal... |
OMIM:612289 |
Hyperekplexia 2 |
|
Myopia, Astigmatism |
OMIM:614619 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Myopia, Ataxia, Hypermetropia |
ORPHA:369891 |
Congenital Ptosis |
|
Myopia, Amblyopia, Abnormality of refraction, Anisometropia, Reduced visual acuity, Hypermetropia... |
ORPHA:91411 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Atri... |
ORPHA:98863 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Myopia, Blue sclerae |
OMIM:130000 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Stickler Syndrome, Type V |
|
High myopia |
OMIM:614284 |
Plague |
|
Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Arrhythmia, Delirium |
ORPHA:707 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Myopia |
ORPHA:1259 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Ataxia, Dilated cardiomyopathy, Depression, Gait ataxia, Reduced left ventri... |
ORPHA:254892 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Camptoda... |
OMIM:143095 |
Acute Lung Injury |
|
Shock, Addictive alcohol use, Diffuse alveolar hemorrhage |
ORPHA:178320 |
Schaaf-Yang Syndrome |
|
Inability to walk, Myopia |
OMIM:615547 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia |
OMIM:615812 |
Mirizzi Syndrome |
|
Tachycardia, Anorexia |
ORPHA:521219 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Ast... |
OMIM:616777 |
Diastrophic Dysplasia |
|
Blue sclerae |
ORPHA:628 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Interphalangeal joint contracture of fi... |
ORPHA:96334 |
Donnai-Barrow Syndrome |
|
Myopia, Progressive visual loss |
ORPHA:2143 |
Rere-Related Neurodevelopmental Syndrome |
|
Myopia, Astigmatism, Anisometropia, Cerebral visual impairment |
ORPHA:494344 |
Brittle Cornea Syndrome |
|
Visual loss, Blue sclerae, Gait disturbance, High myopia |
ORPHA:90354 |
Weill-Marchesani Syndrome |
|
Visual loss, High myopia |
ORPHA:3449 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Astigmatism, Dystonic gait, Cerebral visual impairment |
ORPHA:480898 |
Houge-Janssens Syndrome 1 |
|
Myopia, Gait ataxia |
OMIM:616355 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Myopia, Nyctalopia, High myopia |
OMIM:617763 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Gastrocutaneous Syndrome |
|
Myopia |
OMIM:137270 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Scapular winging, Bicuspid aortic valve, Myocardial infarction,... |
OMIM:150230 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Blue sclerae, Hypermetropia |
OMIM:612582 |
Donohue Syndrome |
|
Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglycemia, Postprandial hyp... |
OMIM:246200 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Myopia |
OMIM:615458 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... |
OMIM:606721 |
Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Astigmatism, Visual impairment, Bl... |
ORPHA:566 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism |
ORPHA:745 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Blue sclerae |
OMIM:619120 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Degcags Syndrome |
|
Atrial septal defect, Tachycardia, Hepatomegaly, Ventricular septal defect, Pneumonia, Asthma, He... |
OMIM:619488 |
Van Den Bosch Syndrome |
|
High myopia |
ORPHA:3417 |
Necrotizing Enterocolitis |
|
Lethargy, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... |
ORPHA:2686 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Myopia |
OMIM:613153 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia |
OMIM:619769 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Myopia, Reduced visual acuity, Hypermetropia, Nonprogressive visual loss, Achromatopsia |
OMIM:614800 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Myopia, Nyctalopia, Unsteady gait, Blurred vision, Reduced visual acuity, Peripheral visual field... |
ORPHA:364055 |
Cohen Syndrome |
|
Myopia, Nyctalopia, Reduced visual acuity, Visual impairment |
OMIM:216550 |
Boudin-Mortier Syndrome |
|
Myopia, Difficulty walking |
OMIM:619543 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... |
ORPHA:443811 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Myopia, Ataxia |
OMIM:618430 |
Achondrogenesis Type 2 |
|
Myopia |
ORPHA:93296 |
B4Galt1-Cdg |
|
Myopia, High myopia |
ORPHA:79332 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia, Anorexia, Decreased body weight |
ORPHA:51890 |
Short Stature-Micrognathia Syndrome |
|
Myopia, Astigmatism, Ataxia, Gait ataxia |
OMIM:617164 |
Lattice Corneal Dystrophy Type I |
|
Visual loss, High myopia, Photophobia, Slow decrease in visual acuity, Astigmatism |
ORPHA:98964 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Polydipsia |
OMIM:613677 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
Icf Syndrome |
|
Anemia, Umbilical hernia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... |
OMIM:619534 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Blau Syndrome |
|
Pericarditis, Camptodactyly of finger, Facial palsy, Dyspnea, Splenomegaly, Large vessel vasculit... |
ORPHA:90340 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Tricuspid valve prolapse, Mitr... |
OMIM:309350 |
Juvenile Glaucoma |
|
Central scotoma, Peripheral visual field loss, High myopia, Visual impairment, Glaucomatous visua... |
ORPHA:98977 |
Mucolipidosis Iii Gamma |
|
Myopia |
OMIM:252605 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocyto... |
OMIM:615934 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
Cataract 21, Multiple Types |
|
High myopia |
OMIM:610202 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Ascending aorta hypoplasia, Neonatal asphyxia, A... |
ORPHA:141127 |
Ctcf-Related Neurodevelopmental Disorder |
|
Coarctation of aorta, Mitral regurgitation, Joint contracture of the 5th finger, Atrial septal de... |
ORPHA:363611 |
Craniosynostosis 2 |
|
Myopia, Hypermetropia, Visual field defect |
OMIM:604757 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Constriction of peripheral visual field, Blindness, Nyctalopia, Visual impairment |
OMIM:300578 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Akinesia, Aggressive behavior, Myocarditis, Congestive heart failure,... |
ORPHA:3385 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism... |
OMIM:270100 |
Spondylo-Ocular Syndrome |
|
Visual loss, Myopia |
ORPHA:85194 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Pseudoxanthoma Elasticum |
|
Myopia, Metamorphopsia, Blue sclerae, Visual impairment |
ORPHA:758 |
Silver-Russell Syndrome 1 |
|
Blue sclerae |
OMIM:180860 |
Acute Promyelocytic Leukemia |
|
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Weight loss, Addictive alcohol use, Thrombocyto... |
ORPHA:520 |
Steinert Myotonic Dystrophy |
|
Short attention span, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfu... |
ORPHA:273 |
Weill-Marchesani Syndrome 3 |
|
High myopia |
OMIM:614819 |
Chédiak-Higashi Syndrome |
|
Ataxia, Epistaxis, Inability to walk, Increased proportion of CD25+ mast cells, Gait disturbance,... |
ORPHA:167 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Myopia |
ORPHA:3236 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Low-to-normal blood pressure, Polydipsia, Failure to thrive, Impaired ... |
OMIM:241200 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Polydipsia, Failure to thrive |
ORPHA:320 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Reduced visual acuity |
OMIM:602499 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Myopia, Hypermetropia |
OMIM:251750 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Myopia |
ORPHA:1856 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Congestive heart failure, Aortic valve calci... |
ORPHA:79474 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia |
ORPHA:199343 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... |
ORPHA:276 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Hypovolemia, Anorexia |
ORPHA:223 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Myopia |
ORPHA:2634 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Schuurs-Hoeijmakers Syndrome |
|
Myopia |
OMIM:615009 |
Tetrasomy 9P |
|
Myositis, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Raynaud phenomenon, A... |
ORPHA:3310 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Myopia |
ORPHA:313892 |
Lowry-Maclean Syndrome |
|
Visual loss, Blue sclerae |
ORPHA:2409 |
Renal Coloboma Syndrome |
|
Myopia, Visual impairment |
ORPHA:1475 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Athetosis, Myopia |
OMIM:219150 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
High hypermetropia, Ataxia, Visual impairment, High myopia |
OMIM:619260 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Failure to thrive, Small for gestational age, Akinesia |
OMIM:619147 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, P... |
OMIM:301056 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Blue sclerae |
OMIM:620250 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Hypertension, Dysdiadochokinesis, Polydipsia |
OMIM:612780 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormal... |
OMIM:602450 |
Angelman Syndrome |
|
Myopia, Progressive gait ataxia, Ataxia, Broad-based gait |
OMIM:105830 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc... |
OMIM:612852 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Myopia, Blue sclerae, Hypermetropia, Impaired tandem gait |
ORPHA:1900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
High myopia |
OMIM:613157 |
Angelman Syndrome |
|
Myopia, Broad-based gait, Ataxia, Amblyopia, Inability to walk, Hypermetropia, Astigmatism |
ORPHA:72 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism |
ORPHA:743 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
Nephronophthisis 1 |
|
Hypertension, Polydipsia |
OMIM:256100 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Myopia, Hemianopia, Hypermetropia |
ORPHA:404440 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Myopia |
OMIM:255800 |
Wiedemann-Steiner Syndrome |
|
Broad-based gait, Blue sclerae |
OMIM:605130 |
White-Sutton Syndrome |
|
Waddling gait, Myopia, Mild myopia, Hypermetropia, Astigmatism, Visual impairment |
OMIM:616364 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Blue sclerae |
OMIM:605282 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutropenia, Ly... |
ORPHA:508542 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Blue sclerae |
OMIM:619115 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Chromosome 9P Deletion Syndrome |
|
Myopia, Blue sclerae |
OMIM:158170 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Dentinogenesis Imperfecta |
|
Blue sclerae |
ORPHA:49042 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Double outlet right ventricle, Coarctation of aort... |
OMIM:618164 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal lung morphology, Renovascular hypertension... |
ORPHA:97685 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Myopia |
ORPHA:2180 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Myopia, Blue sclerae |
OMIM:225410 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol... |
OMIM:269880 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Recurrent lower respiratory tract infections, Budd-Chiari syndrome, Pulmonary embolism |
OMIM:226300 |
Sitosterolemia 1 |
|
Giant platelets, Impaired platelet aggregation, Thrombocytopenia |
OMIM:210250 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Renal Hypoplasia |
|
Hypertension, Polydipsia, Small for gestational age |
ORPHA:93101 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Blue sclerae |
OMIM:617412 |
Alpha-Mannosidosis, Adult Form |
|
Myopia, Ataxia |
ORPHA:309288 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... |
ORPHA:3472 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Myopia |
OMIM:610543 |
Smith-Magenis Syndrome |
|
Myopia, Gait disturbance |
ORPHA:819 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Myopia, Blindness |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Myopia, Ataxia, Hypermetropia, Astigmatism, Visual impairment |
OMIM:156200 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity, Cognitive impairment |
OMIM:615994 |
Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Decreased body weight, Hypoplastic sple... |
OMIM:617053 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Diplopia, Limb ataxia, High myopia, Truncal ataxia, Visual impairment |
OMIM:105210 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Myopia, Ataxia |
ORPHA:562528 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
|
Myopia, Hypermetropia |
ORPHA:404473 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Myopia |
OMIM:251450 |
Osteogenesis Imperfecta, Type Ii |
|
Blue sclerae |
OMIM:166210 |
Hypophosphatasia, Infantile |
|
Blue sclerae |
OMIM:241500 |
Joint Laxity, Short Stature, And Myopia |
|
High myopia |
OMIM:617662 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Myopia, Blue sclerae, Astigmatism |
ORPHA:2953 |
Saul-Wilson Syndrome |
|
Nyctalopia, Blue sclerae |
OMIM:618150 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Myopia |
ORPHA:163649 |
Cri-Du-Chat Syndrome |
|
Myopia, Difficulty walking |
OMIM:123450 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ataxia, Cerebral visual impairment, Inability to walk, Blue sclerae, Gait imbalance |
ORPHA:488642 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Temtamy Syndrome |
|
Myopia |
OMIM:218340 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Hyperglycemia, Diabetes mellitus, Weight loss |
ORPHA:465508 |
Mevalonic Aciduria |
|
Progressive cerebellar ataxia, Blue sclerae, Ataxia |
OMIM:610377 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Telangiectasia, Hematochezia, Mitral valve prola... |
OMIM:175050 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Myopia |
ORPHA:1970 |
De Barsy Syndrome |
|
Athetosis, Blue sclerae, Progressive cerebellar ataxia, High myopia |
ORPHA:2962 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Myopia, Ataxia, Inability to walk, Athetosis, Difficulty walking, Truncal ataxia |
OMIM:615356 |
Noonan Syndrome 6 |
|
Myopia |
OMIM:613224 |
Megalocornea-Intellectual Disability Syndrome |
|
Myopia, Astigmatism, Ataxia |
ORPHA:2479 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Myopia |
ORPHA:93346 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Myopia |
OMIM:184250 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Myopia, Ataxia |
ORPHA:411543 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Cataract 6, Multiple Types |
|
Myopia |
OMIM:116600 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... |
ORPHA:2088 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Myopia, Broad-based gait, Ataxia |
ORPHA:438216 |
Fountain Syndrome |
|
Myopia, Visual impairment |
ORPHA:3219 |
Arthrogryposis Multiplex Congenita 5 |
|
Cardiac arrest, Akinesia |
OMIM:618947 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Myopia, Shuffling gait, Hypermetropia |
OMIM:300534 |
Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
ORPHA:1908 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Blue sclerae |
OMIM:612940 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:615688 |
Exudative Vitreoretinopathy 6 |
|
Myopia, Reduced visual acuity, Progressive visual loss |
OMIM:616468 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Cardiofaciocutaneous Syndrome 4 |
|
Myopia |
OMIM:615280 |
Kniest Dysplasia |
|
Myopia, Gait disturbance |
OMIM:156550 |
Osteogenesis Imperfecta, Type Xiii |
|
Blue sclerae |
OMIM:614856 |
Emanuel Syndrome |
|
Myopia, Astigmatism, Hypermetropia |
ORPHA:96170 |
Nizon-Isidor Syndrome |
|
Myopia, Hypermetropia |
OMIM:618872 |
Marshall-Smith Syndrome |
|
Blue sclerae |
ORPHA:561 |
Cole-Carpenter Syndrome 2 |
|
Blue sclerae |
OMIM:616294 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic he... |
ORPHA:2092 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Myopia |
ORPHA:1496 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Athetosis, Blue sclerae |
OMIM:614438 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Ataxia, Weight loss |
ORPHA:134 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myopia, Visual impairment |
OMIM:236200 |
Mesomelia-Synostoses Syndrome |
|
Myopia |
ORPHA:2496 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Gastrocutaneous Syndrome |
|
Myopia |
ORPHA:2069 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Respiratory tract infection, Pulmonary embolism |
ORPHA:567548 |
Distal Deletion 10Q |
|
Myopia, Unsteady gait, Ataxia, Astigmatism |
ORPHA:96148 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Flexion contracture, Depression, Self-injurious behavior, Anemia |
ORPHA:847 |
Pycnodysostosis |
|
Abnormality of refraction, Blue sclerae |
ORPHA:763 |
Emanuel Syndrome |
|
Myopia, Astigmatism |
OMIM:609029 |
Senior-Boichis Syndrome |
|
Portal hypertension, Aggressive behavior, Hypertension, Agitation, Attention deficit hyperactivit... |
ORPHA:84081 |
Marfanoid Habitus With Situs Inversus |
|
Myopia |
OMIM:609008 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu... |
OMIM:102700 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Myopia |
OMIM:619074 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Myopia |
ORPHA:3218 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Fanconi Anemia, Complementation Group I |
|
Myopia, Astigmatism |
OMIM:609053 |
Paganini-Miozzo Syndrome |
|
High myopia |
OMIM:301025 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Myopia |
ORPHA:73272 |
Neuhauser Syndrome |
|
Myopia, Ataxia |
OMIM:249310 |
Osteogenesis Imperfecta, Type Xviii |
|
Blue sclerae |
OMIM:617952 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Hepatomegaly |
ORPHA:2785 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery hypoplasia, Camptodactyly, A... |
OMIM:300963 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Blue sclerae, Hypermetropia, Amblyopia |
OMIM:245600 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Blue sclerae |
OMIM:619122 |
Char Syndrome |
|
Myopia |
ORPHA:46627 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Myopia, Blue sclerae |
OMIM:614557 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Myopia |
OMIM:614376 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Myopia, Visual field defect |
ORPHA:293967 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Myopia |
OMIM:618914 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Photophobia, Myopia |
OMIM:242150 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Osteogenesis Imperfecta, Type Xi |
|
Blue sclerae |
OMIM:610968 |
Bardet-Biedl Syndrome 1 |
|
Myopia, Ataxia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Astigmatism, Gai... |
OMIM:209900 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Myopia |
ORPHA:3068 |
Beaulieu-Boycott-Innes Syndrome |
|
Myopia |
OMIM:613680 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Photophobia, High myopia |
OMIM:614457 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... |
ORPHA:3260 |
19P13.12 Microdeletion Syndrome |
|
Myopia |
ORPHA:254346 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Blue sclerae |
ORPHA:363417 |
Opsismodysplasia |
|
Blue sclerae |
ORPHA:2746 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ... |
OMIM:620066 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, S... |
ORPHA:358 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Myopia, Nyctalopia, Ring scotoma |
OMIM:616959 |
Oculodentodigital Dysplasia |
|
Myopia, Ataxia, Abnormality of vision, Gait disturbance, High hypermetropia, Visual impairment |
ORPHA:2710 |
Pauci-Immune Glomerulonephritis |
|
Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small vessel vasculitis, Pul... |
ORPHA:93126 |
Goldberg-Shprintzen Syndrome |
|
Blue sclerae, Hypermetropia |
OMIM:609460 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Hypertension, Pulmona... |
OMIM:245150 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Ataxia, Cardiomyopathy, Dementia, Polydipsia |
ORPHA:3463 |
Kury-Isidor Syndrome |
|
Astigmatism, High myopia |
OMIM:619762 |
White-Sutton Syndrome |
|
Myopia, Blindness, Hypermetropia, Astigmatism, Visual impairment |
ORPHA:468678 |
Stickler Syndrome, Type I |
|
Myopia, Blindness |
OMIM:108300 |
Cartilage-Hair Hypoplasia |
|
Myopia, Blue sclerae, Visual impairment, High hypermetropia |
ORPHA:175 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm... |
OMIM:192430 |
Down Syndrome |
|
Myopia, Gait disturbance |
ORPHA:870 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormality of vision, Athetosis, Myopia, Ataxia |
ORPHA:2719 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Pulmonary embolism |
OMIM:185000 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Weight loss, Dysphagia, Polydipsia, Thrombocyt... |
ORPHA:537 |
16Q24.3 Microdeletion Syndrome |
|
Myopia, Astigmatism, Visual impairment |
ORPHA:261250 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Myopia |
ORPHA:85321 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Myopia |
ORPHA:1307 |
Silver-Russell Syndrome |
|
Blue sclerae |
ORPHA:813 |
Oligomeganephronia |
|
Hypertension, Polydipsia, Small for gestational age |
ORPHA:2260 |
Osteogenesis Imperfecta, Type Xvi |
|
Blue sclerae |
OMIM:616229 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Isolated Osteopoikilosis |
|
Addictive alcohol use |
ORPHA:166119 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Reduced visual acuity, High myopia |
OMIM:305390 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Weight loss, Dementia, Dysphagia, Slender build, Allodynia |
OMIM:603041 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... |
ORPHA:1692 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Myopia, Astigmatism, Reduced visual acuity |
OMIM:618727 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion |
ORPHA:567546 |
Cole-Carpenter Syndrome |
|
Blue sclerae |
ORPHA:2050 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Cog1-Cdg |
|
Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly |
ORPHA:263508 |
Otospondylomegaepiphyseal Dysplasia |
|
Mild myopia, Hypermetropia, High myopia |
ORPHA:1427 |
Marshall Syndrome |
|
Myopia, Visual impairment, Amblyopia |
ORPHA:560 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Glycosuria, Hyperglycemia, Fai... |
ORPHA:99885 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Umbilical hern... |
OMIM:301040 |
Ataxia-Telangiectasia |
|
Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Acute lymphoblastic leuk... |
OMIM:208900 |
Acrocraniofacial Dysostosis |
|
Myopia |
ORPHA:949 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Myopia |
ORPHA:2707 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Blue sclerae |
OMIM:130080 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Obesity |
ORPHA:1772 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Myopia |
OMIM:219200 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Desbuquois Dysplasia 2 |
|
Blue sclerae |
OMIM:615777 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Myopia, Gait disturbance |
ORPHA:500055 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Osteogenesis Imperfecta, Type Xx |
|
Blue sclerae |
OMIM:618644 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:613355 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Myopia, Amblyopia, Hypermetropia, Abnormality of vision, Astigmatism, Gait disturbance |
ORPHA:464311 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Blue sclerae |
OMIM:615560 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Gapo Syndrome |
|
Myopia, Visual impairment |
ORPHA:2067 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction,... |
ORPHA:117 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Blue sclerae |
OMIM:619743 |
Pitt-Hopkins Syndrome |
|
Myopia, Astigmatism, Gait ataxia |
OMIM:610954 |
Peters Plus Syndrome |
|
Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal cardiac septum morphology,... |
ORPHA:709 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, High myopia |
OMIM:220500 |
Noonan Syndrome |
|
Arrhythmia, Abnormal platelet function |
ORPHA:648 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... |
ORPHA:280365 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Blue sclerae |
OMIM:615349 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Myopia |
OMIM:183900 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
Ectopia Lentis Et Pupillae |
|
High myopia |
OMIM:225200 |
Kabuki Syndrome 2 |
|
Blue sclerae |
OMIM:300867 |
Erdheim-Chester Disease |
|
Congestive heart failure, Polydipsia, Ataxia, Weight loss |
ORPHA:35687 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Myopia, Myopic astigmatism |
ORPHA:230851 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Myopia, Astigmatism, Hypermetropia |
OMIM:300968 |
49,Xxxxy Syndrome |
|
Myopia |
ORPHA:96264 |
48,Xxxy Syndrome |
|
Recurrent respiratory infections, Asthma, Pulmonary embolism |
ORPHA:96263 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Myopia, Blue sclerae |
ORPHA:536467 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent foramen ovale |
OMIM:620113 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Myopia, Ataxia, Gait imbalance, Gait disturbance |
OMIM:300966 |
Microphthalmia With Brain And Digit Anomalies |
|
Myopia |
ORPHA:139471 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353281 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Myopia, Blindness, Blue sclerae |
OMIM:225400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ataxia, High myopia, Hypermetropia, Gait ataxia |
OMIM:300998 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
High myopia |
OMIM:620070 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Myopia, Visual impairment, Astigmatism, Hypermetropia |
OMIM:616078 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Myopia |
ORPHA:1005 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:609069 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Myopia, Amblyopia, Hypermetropia, Astigmatism, Gait disturbance, Visual impairment |
ORPHA:464306 |
Osteogenesis Imperfecta, Type Iv |
|
Blue sclerae |
OMIM:166220 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Myopia |
ORPHA:94068 |
Alport Syndrome 2, Autosomal Recessive |
|
Myopia |
OMIM:203780 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Myopia, Blue sclerae, High hypermetropia |
ORPHA:536471 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Myopia, Ataxia, Hypermetropia |
OMIM:300661 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Cardiofaciocutaneous Syndrome 1 |
|
Myopia, Progressive visual loss, Cerebral visual impairment |
OMIM:115150 |
8P Inverted Duplication/Deletion Syndrome |
|
Blue sclerae |
ORPHA:96092 |
Hermansky-Pudlak Syndrome |
|
Myopia, Amblyopia, Photophobia, Astigmatism, Visual impairment |
ORPHA:79430 |
Bohring-Opitz Syndrome |
|
Myopia |
OMIM:605039 |
Contractural Arachnodactyly, Congenital |
|
Myopia |
OMIM:121050 |
Alkaptonuria |
|
Abnormality of vision, Blue sclerae |
ORPHA:56 |
Rin2 Syndrome |
|
High myopia |
ORPHA:217335 |
Mucopolysaccharidosis Type 3 |
|
Myopia, Blindness, Constriction of peripheral visual field, Ataxia, Nyctalopia, Gait disturbance,... |
ORPHA:581 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
High myopia |
ORPHA:440354 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Emphysema, Aortic root aneurysm, Bradycardia, Pulmonary artery a... |
OMIM:614437 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Camptodactyly, Pulmo... |
OMIM:616894 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Myopia, Hypermetropia |
OMIM:253800 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Myopia, Blue sclerae, Difficulty walking |
ORPHA:536545 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Myopia, Astigmatism, Hypermetropia, Cerebral visual impairment |
ORPHA:369837 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Lethargy, Myopia |
ORPHA:398069 |
Panhypophysitis |
|
Orthostatic hypotension, Polydipsia |
ORPHA:95513 |
Monosomy 18Q |
|
Choreoathetosis, Myopia |
ORPHA:1600 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Myopia |
ORPHA:93316 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Lymphopenia, Anemia |
ORPHA:935 |
Trisomy 8P |
|
Blue sclerae, Astigmatism, Hypermetropia |
ORPHA:264450 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity |
ORPHA:3157 |
Cowden Syndrome 5 |
|
Myopia |
OMIM:615108 |
Trichothiodystrophy |
|
Photophobia, Myopia, Astigmatism, Gait ataxia |
ORPHA:33364 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypermetropia, High myopia |
OMIM:619103 |
Osteogenesis Imperfecta, Type X |
|
Blue sclerae |
OMIM:613848 |
Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... |
OMIM:154700 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
Acromelic Frontonasal Dysplasia |
|
Myopia |
ORPHA:1827 |
Osteootohepatoenteric Syndrome |
|
Blue sclerae |
OMIM:619377 |
Xylt1-Cdg |
|
Myopia |
ORPHA:370930 |
Neonatal Marfan Syndrome |
|
Blue sclerae, High myopia |
ORPHA:284979 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Moderate myopia, Amblyopia |
OMIM:619758 |
Legius Syndrome |
|
Short attention span, Hyperactivity, Paroxysmal atrial tachycardia, Cognitive impairment, Pulmoni... |
ORPHA:137605 |
Cowden Syndrome 6 |
|
Myopia |
OMIM:615109 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Ataxia, Tip-toe gait, Hyperglycemia, Failure to thrive |
ORPHA:3008 |
Osteogenesis Imperfecta, Type I |
|
Blue sclerae |
OMIM:166200 |
Pitt-Hopkins Syndrome |
|
Myopia, Astigmatism, Ataxia, Gait ataxia |
ORPHA:2896 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Myopia |
OMIM:257850 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Myopia, Tip-toe gait |
OMIM:618050 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Myopia, Astigmatism |
OMIM:248190 |
1P21.3 Microdeletion Syndrome |
|
Abnormality of vision, Myopia, Astigmatism |
ORPHA:293948 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis,... |
OMIM:614609 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Myopia |
OMIM:612394 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta |
OMIM:600460 |
Loeys-Dietz Syndrome 5 |
|
Blue sclerae |
OMIM:615582 |
Hypomagnesemia 3, Renal |
|
Myopia, Astigmatism, Hypermetropia |
OMIM:248250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Myopia, Hypermetropia |
OMIM:613150 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Obesity, Depression, Self-injurious behavior, Compulsive behaviors, Impaired... |
ORPHA:293987 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Alpha-Mannosidosis, Infantile Form |
|
Myopia, Astigmatism, Ataxia, Hypermetropia |
ORPHA:309282 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Arterial Tortuosity Syndrome |
|
Myopia, Astigmatism |
OMIM:208050 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of vision, Myopia |
ORPHA:1340 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Visual loss, Myopia |
ORPHA:397715 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
Cowden Syndrome 1 |
|
Myopia |
OMIM:158350 |
Prader-Willi Syndrome Due To Translocation |
|
Myopia, Hypermetropia, Cerebral visual impairment |
ORPHA:177907 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympho... |
ORPHA:1572 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Myopia, Astigmatism |
ORPHA:1675 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Blue sclerae |
ORPHA:1236 |
Prader-Willi Syndrome |
|
Myopia, Hypermetropia |
OMIM:176270 |
Proteus-Like Syndrome |
|
Myopia |
ORPHA:2969 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Blue sclerae, Hypermetropia |
OMIM:130070 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Abnormality of vision, Myopia, Astigmatism, Cerebral visual impairment |
ORPHA:466943 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
High myopia |
OMIM:619685 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... |
ORPHA:91347 |
Cohen Syndrome |
|
Myopia |
ORPHA:193 |
Arima Syndrome |
|
Hypertension, Polydipsia, Ataxia |
OMIM:243910 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Blue sclerae |
OMIM:616539 |
Kaufman Oculocerebrofacial Syndrome |
|
Myopia, Astigmatism |
OMIM:244450 |
Cardiac-Urogenital Syndrome |
|
Prolonged bleeding time, Tachycardia |
OMIM:618280 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Fasting hypoglycemia, Glycosuria |
OMIM:227810 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Myopia, Blue sclerae |
OMIM:271640 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... |
ORPHA:558 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial... |
OMIM:216340 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... |
ORPHA:394 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Flexion contr... |
ORPHA:261537 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Myopia |
OMIM:610759 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... |
ORPHA:797 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Blue sclerae |
OMIM:616728 |
Donnai-Barrow Syndrome |
|
Progressive visual loss, High myopia |
OMIM:222448 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Ataxia, Mild myopia, Cerebral visual impairment |
ORPHA:412069 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... |
ORPHA:261552 |
Knobloch Syndrome |
|
Visual loss, Myopia, Progressive visual loss |
ORPHA:1571 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Myopia, Astigmatism, Difficulty walking |
OMIM:619482 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Myopia, Blue sclerae, Astigmatism |
OMIM:601776 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Failure to thrive |
OMIM:239200 |
Cataract 16, Multiple Types |
|
High myopia |
OMIM:613763 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Myopia, Myopic astigmatism, Amblyopia |
OMIM:301066 |
Marshall Syndrome |
|
Myopia |
OMIM:154780 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Myopia |
OMIM:182212 |
Parathyroid Carcinoma |
|
Shortened QT interval, Polydipsia, Weight loss, Dysphagia |
ORPHA:143 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myopia, Astigmatism, Hypermetropia |
OMIM:607721 |
Tarp Syndrome |
|
Myopia, Broad-based gait |
ORPHA:2886 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Myopia, Astigmatism |
ORPHA:536532 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Cognitive impairment, Polydipsia,... |
ORPHA:731 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Myopia, Blindness, Amblyopia, Visual loss, Abnormality of vision |
ORPHA:2526 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Myopia, Visual impairment, Difficulty walking |
OMIM:618748 |
Osteogenesis Imperfecta |
|
Ataxia, Blue sclerae, Gait disturbance, Loss of ambulation, Visual impairment |
ORPHA:666 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Myopia, Ataxia |
OMIM:609136 |
Familial Chylomicronemia Syndrome |
|
Hepatosplenomegaly, Precocious atherosclerosis, Pulmonary embolism |
ORPHA:444490 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Myopia, Broad-based gait, Ataxia, Hypermetropia, Astigmatism, Gait disturbance |
ORPHA:268261 |
Autosomal Recessive Robinow Syndrome |
|
Blue sclerae |
ORPHA:1507 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Myopia |
OMIM:184253 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Ataxia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive |
OMIM:124000 |
Weill-Marchesani Syndrome 4 |
|
High myopia |
OMIM:613195 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
High myopia |
ORPHA:370997 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive, Cognitive impairment |
ORPHA:411629 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Inability to walk, Myopia, Hypermetropia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Inability to walk, Myopia, Hypermetropia |
ORPHA:352665 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Myopia |
ORPHA:521445 |
Macs Syndrome |
|
High myopia |
OMIM:613075 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353277 |
Cornelia De Lange Syndrome 1 |
|
Myopia, Astigmatism |
OMIM:122470 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced visual acuity, High myopia |
OMIM:616914 |
20Q11.2 Microduplication Syndrome |
|
High myopia |
ORPHA:363659 |
Arterial Tortuosity Syndrome |
|
Myopia |
ORPHA:3342 |
Arboleda-Tham Syndrome |
|
Myopia, Amblyopia, Cerebral visual impairment, Astigmatism, Gait imbalance |
OMIM:616268 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia |
ORPHA:440713 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Myopia, Broad-based gait, Amblyopia, Hypermetropia, Gait ataxia |
ORPHA:513456 |
Alström Syndrome |
|
Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, ... |
ORPHA:64 |
Martin-Probst Syndrome |
|
Myopia |
OMIM:300519 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Myopia, Hypermetropia, Amblyopia |
ORPHA:508498 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Myopia |
ORPHA:86818 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Apert Syndrome |
|
Myopia |
OMIM:101200 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Myopia, Visual impairment |
ORPHA:93315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Myopia, Blindness |
OMIM:236670 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Polydipsia, Dysphagia |
ORPHA:99880 |
Shprintzen-Goldberg Syndrome |
|
Myopia |
ORPHA:2462 |
Dubowitz Syndrome |
|
Myopia |
ORPHA:235 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive, Hypovolemia |
ORPHA:411634 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Myopia, Broad-based gait, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Astigmatism |
OMIM:614756 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Broad-based gait, High myopia |
OMIM:309583 |
Dehydrated Hereditary Stomatocytosis |
|
Splenomegaly, Pulmonary venous hypertension |
ORPHA:3202 |
Alport Syndrome 1, X-Linked |
|
Myopia |
OMIM:301050 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Frontometaphyseal Dysplasia 2 |
|
Blue sclerae |
OMIM:617137 |
Deeah Syndrome |
|
Myopia, Hypermetropia |
OMIM:619004 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Myopia, Cerebral visual impairment, Hypermetropia, Blue sclerae, Progressive visual loss |
ORPHA:500150 |
Kabuki Syndrome |
|
Blue sclerae |
ORPHA:2322 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Myopia |
ORPHA:1018 |
Acromelic Frontonasal Dysostosis |
|
Myopia |
OMIM:603671 |
Alport Syndrome 3A, Autosomal Dominant |
|
Myopia |
OMIM:104200 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Moderate myopia, Reduced visual acuity, Visual impairment, High myopia |
OMIM:601552 |
Hallermann-Streiff Syndrome |
|
Myopia, Visual impairment |
ORPHA:2108 |
Kniest Dysplasia |
|
High myopia |
ORPHA:485 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use |
ORPHA:101330 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis... |
ORPHA:2968 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
High myopia |
OMIM:616538 |
Papillorenal Syndrome |
|
Reduced visual acuity, High myopia |
OMIM:120330 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Moderate myopia |
ORPHA:555877 |
Autosomal Dominant Robinow Syndrome |
|
Blue sclerae |
ORPHA:3107 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Hypermetropia, Blue sclerae, Falls, Tip-toe gait |
OMIM:619503 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Blue sclerae |
ORPHA:477993 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Myopia, Amblyopia, Reduced visual acuity, Hypermetropia, Visual field defect, Astigmatism, Blurre... |
OMIM:175780 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High myopia |
ORPHA:357074 |
Wiedemann-Rautenstrauch Syndrome |
|
Myopia, Ataxia, Hypermetropia, Blue sclerae, Truncal ataxia |
ORPHA:3455 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Myopia |
ORPHA:1101 |
Roberts Syndrome |
|
Blue sclerae |
ORPHA:3103 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Dec... |
ORPHA:508 |
Meier-Gorlin Syndrome 7 |
|
Myopia |
OMIM:617063 |
Short Stature With Microcephaly And Distinctive Facies |
|
High myopia |
OMIM:615789 |
Coffin-Siris Syndrome |
|
Myopia, Visual impairment |
ORPHA:1465 |
Helix Syndrome |
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Polydipsia |
OMIM:617671 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Small for gestational age, Hypoglycemia, Ataxia, Dysmetria, Truncal ataxia, Hyperglycemia, Failur... |
OMIM:220111 |
Neurofibromatosis Type 1 |
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Abnormality of vision, Myopia, Ataxia, Visual impairment |
ORPHA:636 |
Spondyloperipheral Dysplasia |
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High myopia |
OMIM:271700 |
Cystinosis, Nephropathic |
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Failure to thrive in infancy, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, We... |
OMIM:219800 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Moderate myopia, Ataxia, Mild myopia, Hypermetropia, Tip-toe gait |
OMIM:619950 |
Weill-Marchesani Syndrome 1 |
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Blindness, High myopia |
OMIM:277600 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
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Myopia |
ORPHA:140952 |
Proximal Renal Tubular Acidosis |
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Polydipsia, Failure to thrive, Hypovolemia |
ORPHA:47159 |
Hajdu-Cheney Syndrome |
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Myopia |
ORPHA:955 |
Hamamy Syndrome |
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High myopia |
OMIM:611174 |
X-Linked Intellectual Disability, Snyder Type |
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Inability to walk, Unsteady gait, High myopia |
ORPHA:3063 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Myopia, Hypermetropia |
OMIM:309590 |
Sturge-Weber Syndrome |
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Conjunctival telangiectasia, Pulmonary embolism |
ORPHA:3205 |
Ablepharon Macrostomia Syndrome |
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Myopia, Visual impairment |
ORPHA:920 |
Fibromuscular Dysplasia, Multifocal |
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Blue sclerae |
OMIM:619329 |
Senior-Loken Syndrome 1 |
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Polydipsia |
OMIM:266900 |
Cowden Syndrome |
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Myopia, Ataxia |
ORPHA:201 |
Wiedemann-Rautenstrauch Syndrome |
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Blue sclerae, Truncal ataxia |
OMIM:264090 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Inability to walk, Myopia, Ataxia |
ORPHA:459070 |
17Q24.2 Microdeletion Syndrome |
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Myopia |
ORPHA:529962 |
Weill-Marchesani Syndrome 2 |
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Blindness, Astigmatism, High myopia |
OMIM:608328 |
Hunter-Macdonald Syndrome |
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Myopia |
OMIM:611962 |
Cranioectodermal Dysplasia 1 |
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Myopia |
OMIM:218330 |
Cohen-Gibson Syndrome |
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Myopia, Gait disturbance |
OMIM:617561 |
Distal Renal Tubular Acidosis |
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Polydipsia, Failure to thrive |
ORPHA:18 |
Stickler Syndrome |
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Myopia, Blindness, Astigmatism, Visual impairment |
ORPHA:828 |
Shwachman-Diamond Syndrome 2 |
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High myopia |
OMIM:617941 |
Bohring-Opitz Syndrome |
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Inability to walk, High myopia |
ORPHA:97297 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Diabetes mellitus, Hyperglycemia, Failure to thrive, Glycosuria |
OMIM:600001 |
Thyrotoxic Periodic Paralysis |
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Postprandial hyperglycemia, Obesity, Weight loss |
ORPHA:79102 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Epistaxis, Hypertension, Pulmonary venous hypertension, Enlarged kidney |
ORPHA:79259 |
Zimmermann-Laband Syndrome 1 |
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Myopia |
OMIM:135500 |
Campomelic Dysplasia |
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Myopia |
OMIM:114290 |
Coffin-Siris Syndrome 1 |
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Myopia, Astigmatism, Visual impairment, Gait ataxia |
OMIM:135900 |
Loeys-Dietz Syndrome 1 |
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Blue sclerae |
OMIM:609192 |
Carpenter Syndrome 2 |
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Blue sclerae |
OMIM:614976 |
Williams Syndrome |
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Myopia, Ataxia, Dysmetria, Gait disturbance, Gait imbalance, High hypermetropia, Visual impairment |
ORPHA:904 |
Cardiospondylocarpofacial Syndrome |
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Blue sclerae |
OMIM:157800 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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High myopia, Difficulty walking, Gait ataxia |
ORPHA:457359 |
Baller-Gerold Syndrome |
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Myopia, Astigmatism, High myopia |
OMIM:218600 |
Mesomelia-Synostoses Syndrome |
|
Myopia |
OMIM:600383 |
Knobloch Syndrome 2 |
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High myopia, Vitreous floaters |
OMIM:618458 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Polydipsia, Failure to thrive |
OMIM:602522 |
Proteus Syndrome |
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Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Spl... |
ORPHA:744 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Hypermetropia, Myopia, Astigmatism, Difficulty walking |
ORPHA:480880 |
Coffin-Siris Syndrome 12 |
|
Myopia, Hypermetropia |
OMIM:619325 |
Osteogenesis Imperfecta, Type Vii |
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Blue sclerae |
OMIM:610682 |
Alagille Syndrome 1 |
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Myopia |
OMIM:118450 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Polydipsia |
ORPHA:93111 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
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High myopia |
OMIM:300707 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Knobloch Syndrome 1 |
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Ataxia, Visual impairment, High myopia |
OMIM:267750 |
Charge Syndrome |
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Atrial septal defect, Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial ... |
OMIM:214800 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Myopia, Visual impairment, Hypermetropia |
OMIM:607872 |
Loeys-Dietz Syndrome 2 |
|
Blue sclerae |
OMIM:610168 |
Poland Syndrome |
|
Myopia |
ORPHA:2911 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Photophobia, Myopia, Astigmatism |
ORPHA:2273 |
Loeys-Dietz Syndrome |
|
Blue sclerae |
ORPHA:60030 |
Neuroocular Syndrome |
|
Myopia, Hypermetropia, Amblyopia |
OMIM:619539 |
Kabuki Syndrome 1 |
|
Blue sclerae |
OMIM:147920 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myopia |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myopia |
ORPHA:99228 |
Monosomy X |
|
Myopia |
ORPHA:99226 |
Turner Syndrome |
|
Myopia |
ORPHA:881 |
Wrinkly Skin Syndrome |
|
Blue sclerae |
OMIM:278250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia |
OMIM:253280 |
Doors Syndrome |
|
Myopia |
ORPHA:79500 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chiari syndrome |
ORPHA:447 |
Cornelia De Lange Syndrome |
|
Myopia |
ORPHA:199 |
Noonan Syndrome 1 |
|
Myopia |
OMIM:163950 |
Pierson Syndrome |
|
Blindness, High myopia |
OMIM:609049 |
Peters-Plus Syndrome |
|
Myopia |
OMIM:261540 |
Mowat-Wilson Syndrome |
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Myopia, Broad-based gait, Ataxia, Inability to walk, Astigmatism |
ORPHA:2152 |
Roberts-Sc Phocomelia Syndrome |
|
Blue sclerae |
OMIM:268300 |
Microphthalmia, Syndromic 6 |
|
Myopia, Blindness |
OMIM:607932 |
Sotos Syndrome |
|
Myopia, Astigmatism, Hypermetropia |
ORPHA:821 |
Vascular Ehlers-Danlos Syndrome |
|
Blue sclerae |
ORPHA:286 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Myopia |
OMIM:182250 |
Wrinkly Skin Syndrome |
|
Progressive cerebellar ataxia, High myopia |
ORPHA:2834 |
Branchiooculofacial Syndrome |
|
Myopia |
OMIM:113620 |
Pallister-Killian Syndrome |
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Inability to walk, Myopia, Visual impairment |
OMIM:601803 |
Pmm2-Cdg |
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Myopia, Ataxia |
ORPHA:79318 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy |
ORPHA:363549 |