Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Hypertension, Hypercholesterolemia, Premature coronary ... |
OMIM:608320 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Myocardial infarction, Premature coronary artery atheros... |
OMIM:604091 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissect... |
ORPHA:229 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke |
OMIM:616779 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Arterial stenosis, Cerebral artery atherosclerosis, Hypertensio... |
ORPHA:1192 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Myocardial infarction, Cardiomegaly, Carotid artery calcification,... |
OMIM:208000 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia |
OMIM:265150 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Diabetes mellitus, Subarachnoid hemorrhage,... |
ORPHA:36382 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... |
OMIM:135580 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong... |
OMIM:614473 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Stroke, Moyamoya phenomenon |
ORPHA:401945 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Decreased circulating... |
OMIM:203400 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension, Coronary artery atherosclerosis |
ORPHA:79084 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp... |
OMIM:615779 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia |
OMIM:178370 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Hy... |
ORPHA:90041 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Cerebral berry aneurysm |
OMIM:210050 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... |
OMIM:610600 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1354 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Sarcoidosis, Susceptibility To, 2 |
|
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:612387 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insufficiency, Abnormal aortic ... |
ORPHA:1166 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... |
ORPHA:254361 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Insulin-resistant diabetes melli... |
OMIM:608600 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... |
OMIM:601612 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... |
ORPHA:136 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Trimethylaminuria |
|
Splenomegaly, Hypertension, Tachycardia |
OMIM:602079 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Stroke-like episode,... |
OMIM:540000 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T... |
ORPHA:494424 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:177200 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Stroke, Abnormality of circulating cortisol level, Left ventricular hy... |
ORPHA:320 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Adrenal insufficiency, Increase... |
ORPHA:427 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... |
ORPHA:171876 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Ascending tubular aorta aneury... |
OMIM:219100 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618463 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Sitosterolemia 2 |
|
Tendon xanthomatosis, Premature coronary artery atherosclerosis |
OMIM:618666 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Coarctation of aorta |
OMIM:616069 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Premature coronar... |
ORPHA:140905 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Arterial tortuosity, Pneumothorax, Ascending tubular aorta aneurysm, Aortic root ane... |
OMIM:614816 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Moyamoya phenomenon |
OMIM:615750 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... |
ORPHA:225 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin |
OMIM:620321 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mell... |
ORPHA:412 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... |
OMIM:109730 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypercalcemia, Myoca... |
ORPHA:95409 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium |
OMIM:613759 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Polycystic Kidney Disease 5 |
|
Hypertension, Enlarged kidney, Hepatosplenomegaly |
OMIM:617610 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Stroke |
OMIM:613877 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... |
ORPHA:231632 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Hypoalbuminemia, Myocardial infarction |
ORPHA:54370 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... |
ORPHA:90791 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly |
OMIM:121300 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin l... |
OMIM:613677 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia |
ORPHA:526 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Emphysema, Abnormal... |
ORPHA:363618 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke |
OMIM:182410 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia |
ORPHA:306550 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... |
OMIM:612422 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Abnormal aortic morpho... |
ORPHA:1926 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery |
OMIM:600666 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... |
OMIM:620080 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... |
ORPHA:90795 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... |
ORPHA:90065 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hyperten... |
OMIM:615238 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Elevated diastolic blood pressure, Hypertension, E... |
ORPHA:275555 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Arterial occlus... |
ORPHA:289601 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... |
OMIM:607364 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Congestive heart failur... |
ORPHA:79083 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Emphysema, Small vessel vasculitis, Restrictive ventilatory defect, Cough, Pleural effus... |
ORPHA:36412 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Pulmonary embolism, Venous insufficiency, Patent ductus arterio... |
ORPHA:90308 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hypertension, Hepatomegaly |
OMIM:105200 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... |
ORPHA:280356 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Angina pectoris, Premature coronary artery atheroscleros... |
ORPHA:425 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypomagnesemia, Ventricular tachycardia, Hypokalemia, Increased circulatin... |
OMIM:263800 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect |
OMIM:613870 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Abnormality of the pulmonary artery |
ORPHA:290 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalize... |
OMIM:614437 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Elevated circulating creatinine concentration |
OMIM:616733 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal... |
OMIM:300219 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... |
OMIM:617021 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... |
ORPHA:3342 |
Grange Syndrome |
|
Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,... |
OMIM:602531 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... |
ORPHA:168558 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... |
OMIM:604367 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Coar... |
OMIM:619178 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis |
OMIM:614432 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic... |
OMIM:613177 |
Familial Thrombocytosis |
|
Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Syncope, Cerebral ischemia... |
ORPHA:71493 |
Scimitar Syndrome |
|
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the di... |
ORPHA:185 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... |
OMIM:168000 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr... |
ORPHA:1349 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, ... |
ORPHA:85138 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... |
OMIM:615980 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Abnormal internal carotid artery morphology, Flexion contracture, Lower lim... |
ORPHA:365 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT,... |
ORPHA:333 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, Camptodactyly of finger |
ORPHA:896 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch... |
ORPHA:99050 |
Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... |
ORPHA:565612 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Decreased muscle mass, Patent ductus arteriosus, Hypoplastic ... |
ORPHA:2962 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm mo... |
ORPHA:2257 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiectasis, Restrictive ventilatory ... |
ORPHA:1572 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity, Pneumothorax, Recurre... |
ORPHA:90349 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... |
OMIM:619632 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Pal... |
ORPHA:94080 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... |
ORPHA:57777 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema, Asthma |
ORPHA:634 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Spontaneous pneumothorax, Descending aortic dissection, Emphysema, Dilat... |
ORPHA:558 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypokalemia, Hypotension |
OMIM:611489 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Flexion contracture, Hypoxemia, Ascending tubular aorta aneurysm, ... |
ORPHA:284979 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevat... |
OMIM:617253 |
Dextrocardia |
|
Abnormal lung lobation, Abnormality of the pulmonary artery, Congenital malformation of the great... |
ORPHA:1666 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteroni... |
ORPHA:89938 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Biventricular hypertrophy, Abnormal cir... |
ORPHA:101028 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Autoimmune hypoparathyroidism, Abnormal left ventricular function, Hypocal... |
ORPHA:36913 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Rhabdoid Tumor |
|
Hypertension, Hypercalcemia, Internal hemorrhage |
ORPHA:69077 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar ... |
OMIM:614034 |
Nephronophthisis 2 |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Hypertension... |
OMIM:602088 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Vascular dilatation, Cough |
ORPHA:2314 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Coach Syndrome 2 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:2516 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... |
OMIM:605373 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... |
ORPHA:371428 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... |
OMIM:600142 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent duct... |
OMIM:601005 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Pulmonary artery hypoplasia, Emphysema, Chronic ... |
OMIM:245150 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Hy... |
ORPHA:2348 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Atheroscler... |
ORPHA:79292 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no... |
OMIM:601678 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... |
OMIM:613751 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery |
ORPHA:1131 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Emphysema, Decreased muscle mass, Prominent veins on trunk |
ORPHA:357074 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... |
OMIM:613095 |
Riboflavin Transporter Deficiency |
|
Hypertension, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
East Syndrome |
|
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Stiff Skin Syndrome |
|
Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... |
ORPHA:2637 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... |
ORPHA:258 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly |
ORPHA:363400 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormal lung morphology, Abnorma... |
ORPHA:167635 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy... |
ORPHA:449291 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertension, Dilatation of... |
ORPHA:730 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... |
ORPHA:980 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... |
OMIM:214700 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeate... |
ORPHA:536467 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenos... |
OMIM:208050 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of aorta, Bronchiolitis, Emphys... |
ORPHA:90348 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Spontaneous pneumothorax, Chronic pulmonary obstruction, Ascending tubular aorta aneurysm, Aortic... |
OMIM:619825 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desquamative interstit... |
OMIM:265120 |
C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hepat... |
OMIM:151660 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Marfan Syndrome |
|
Decreased muscle mass, Emphysema, Pneumothorax, Flexion contracture, Ascending tubular aorta aneu... |
OMIM:154700 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart fa... |
OMIM:235200 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulm... |
ORPHA:1120 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... |
OMIM:241200 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveola... |
OMIM:601186 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
Hadziselimovic Syndrome |
|
Pulmonary artery atresia, Tetralogy of Fallot |
OMIM:612946 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Abnorm... |
ORPHA:206572 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Stroke |
OMIM:603903 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:230800 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnormal aortic morphology, Pulmona... |
ORPHA:991 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyro... |
ORPHA:525731 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mell... |
ORPHA:280365 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly |
OMIM:269920 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morphology, Congest... |
ORPHA:902 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... |
ORPHA:56 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Coarctation of aorta |
OMIM:620210 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Nephroblastoma |
|
Hypertension |
ORPHA:654 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventric... |
OMIM:259900 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu... |
ORPHA:247691 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficienc... |
ORPHA:542643 |
Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Hypertension, Delayed pubert... |
ORPHA:52 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ... |
ORPHA:3426 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Congestive heart ... |
OMIM:212140 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infiltr... |
OMIM:181000 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hyperlipi... |
ORPHA:1830 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous pulmonary venous ... |
OMIM:608978 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Camptodactyly of finger, Coarctation of aorta |
ORPHA:2876 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:276621 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... |
ORPHA:183 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldos... |
ORPHA:508 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... |
ORPHA:363705 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypokalemia, Hypotension |
ORPHA:330021 |
Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Vascular dilatation |
OMIM:216360 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia |
OMIM:619064 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Hypercholesterolemia, Familial, 1 |
|
Tendon xanthomatosis, Coronary artery atherosclerosis |
OMIM:143890 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Truncus arteriosus |
ORPHA:401935 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Elevated circulating thyroid-stimulating hormone concentration, Arteri... |
OMIM:242900 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnorm... |
ORPHA:79086 |
Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Abnormal lung lobation, Total anomalous pulmonary venous retu... |
OMIM:208530 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Right atrial enlarg... |
OMIM:614008 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot... |
OMIM:256550 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformati... |
ORPHA:1556 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal ... |
OMIM:269860 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... |
OMIM:619051 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury... |
ORPHA:449400 |
Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... |
ORPHA:284227 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Emphysema, Arterial tortuosity, Patent ductus ar... |
OMIM:619472 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic ca... |
OMIM:614702 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Transient isch... |
ORPHA:324 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture |
OMIM:619708 |
Noonan Syndrome With Multiple Lentigines |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Scapular winging, Abnormality of the pulmon... |
ORPHA:500 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Dilatation of t... |
OMIM:613658 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of propylene glycol in blood |
OMIM:215600 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... |
ORPHA:31204 |
Zygomycosis |
|
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Retinal arterial occlusio... |
ORPHA:73263 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Left atrial enlargem... |
OMIM:300280 |
Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia, Renal artery ste... |
OMIM:617913 |
Heterotaxy, Visceral, 7, Autosomal |
|
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... |
OMIM:616749 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... |
OMIM:266500 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... |
ORPHA:217085 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:618845 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... |
ORPHA:217093 |
15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta |
ORPHA:261183 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Ventricular septal defec... |
OMIM:614921 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Portal hypertension, Pericardial effusion, Hepatosplenomegaly, Hypert... |
OMIM:619487 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ascending aorta hypoplasia, Neonatal asphyxia, Patent ductus arteriosus, Ab... |
ORPHA:141127 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... |
ORPHA:29072 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Hypertension, Increased blood urea nitrogen, Delayed puberty, Enlarged kidney |
ORPHA:251004 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad... |
ORPHA:892 |
Bardet-Biedl Syndrome |
|
Hypertension, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Birk-Landau-Perez Syndrome |
|
Hypertension, Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Flexion contracture, Camptodactyly, Emphysema, Joint contracture of the hand |
OMIM:224690 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulm... |
ORPHA:3097 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Galloway-Mowat Syndrome 3 |
|
Hypertension, Hypoalbuminemia, Coarctation of aorta |
OMIM:617729 |
Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Large vessel vasculitis, Cough, Abnormal pattern of respiration, Vascular d... |
ORPHA:728 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Abno... |
ORPHA:79474 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli... |
ORPHA:85450 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... |
ORPHA:139411 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonary arter... |
OMIM:618316 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein... |
OMIM:615688 |
Oligomeganephronia |
|
Secundum atrial septal defect, Hypertension, Pulmonary venous occlusion, Elevated circulating cre... |
ORPHA:2260 |
Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp... |
ORPHA:465508 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Ab... |
ORPHA:565 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema |
ORPHA:289 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Hypomethioninemia, Hyperhomocystinemia |
ORPHA:2169 |
Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden cardiac death, Cardiomeg... |
OMIM:201475 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Diaphragmatic eventration, Aortopulmonary collateral arteries, Aor... |
OMIM:620025 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... |
ORPHA:394 |
Alport Syndrome |
|
Hypertension, Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Carotid artery stenosis, Elevated circulating sitosterol concentrati... |
OMIM:210250 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten... |
ORPHA:2847 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Senior-Boichis Syndrome |
|
Portal hypertension, Hepatosplenomegaly, Carotid artery dilatation, Hypertension, Increased total... |
ORPHA:84081 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Bone-marrow foam... |
ORPHA:275761 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Pulmonary artery hypoplasia, Asthma, Congenital diaphragmatic h... |
OMIM:616777 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:235400 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension |
ORPHA:134 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... |
OMIM:115310 |
Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Arrhythmia, Aortic valve stenosis |
OMIM:616298 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension |
OMIM:619758 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Tetra... |
OMIM:192430 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Absent pulmonary artery, Tetralogy of Fallot, Coarctation of aorta |
OMIM:600460 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... |
OMIM:611812 |
22Q11.2 Deletion Syndrome |
|
Retinal arteriolar tortuosity, Atelectasis, Patent ductus arteriosus, Asthma, Abnormal lung lobat... |
ORPHA:567 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, C... |
OMIM:617713 |
Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... |
ORPHA:31150 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Inappropri... |
ORPHA:79473 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Abnormal cerebral vasc... |
ORPHA:904 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi... |
ORPHA:1855 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Right aortic arch, Pulmonary artery hypoplasia, Double outlet right ventricle, Anomalous origin o... |
ORPHA:2326 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Elevated circulating C-reactive ... |
ORPHA:48435 |
Heterotaxy, Visceral, 6, Autosomal |
|
Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp... |
OMIM:614779 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Diffuse Cutaneous Systemic Sclerosis |
|
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... |
ORPHA:220393 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Hypokalemia, Increased circulating ACTH level, Pituitary adenoma |
OMIM:219090 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... |
ORPHA:435638 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Decreased muscle mass, Prominent veins on trunk, Emphysema, A... |
ORPHA:2834 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty, Enlarged kidney |
OMIM:232200 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Abnormal ao... |
ORPHA:251071 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Hypertension, Enlarged kidney |
OMIM:263200 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperammonemia, Hypertension, Arrhythmia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614052 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism, Transient hyperphenylalaninemia |
ORPHA:98808 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Precocious puberty, Arterial stenosis, Hypertension, Pheochr... |
ORPHA:636 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Adren... |
ORPHA:51608 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension |
OMIM:174000 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Digeorge Syndrome |
|
Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Chronic pulmonary obstruction, Asthma... |
OMIM:188400 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis |
ORPHA:209902 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
Caudal Regression Syndrome |
|
Hypertension, Maternal diabetes |
ORPHA:3027 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... |
ORPHA:286 |
Sarcoidosis |
|
Facial palsy, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronch... |
ORPHA:797 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Elevated circulating creatinine concentration, Hyperk... |
ORPHA:340 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Patent ductus arteriosus, Coarctation of aorta, Pulmonary artery a... |
OMIM:618164 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty, Enlarge... |
OMIM:232220 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension |
OMIM:256700 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:619149 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Congenital lobar overinflation, Coarctation of aorta |
OMIM:600987 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus after birth at term... |
ORPHA:500150 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... |
ORPHA:268 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hypertension, Hyperkalemia |
ORPHA:97362 |
Hardikar Syndrome |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Portal hyp... |
OMIM:301068 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Pulmonary artery hypoplasia, Camptodactyly of finger, Camptodactyly |
OMIM:300963 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hyp... |
ORPHA:93473 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism |
ORPHA:567546 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmonary arteriovenous malformation... |
OMIM:610655 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of the m... |
OMIM:268800 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Tetralogy of Fallot, H... |
ORPHA:210122 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertension, D... |
ORPHA:330015 |
Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Tetralogy of Fallot |
ORPHA:1908 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hematemesis, Increased circulating ferritin concentration, Pericardial effusion, Va... |
OMIM:615846 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect |
ORPHA:411709 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypertension, Hypophosphatemia |
OMIM:104200 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... |
ORPHA:555877 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Familial Dysautonomia |
|
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Spider hemangioma, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty, Pu... |
OMIM:232240 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Aort... |
ORPHA:805 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... |
OMIM:611962 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
Xfe Progeroid Syndrome |
|
Hypertension, Hypoalbuminemia |
OMIM:610965 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta |
OMIM:300514 |
Wagro Syndrome |
|
Hypertension |
OMIM:612469 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension |
OMIM:613159 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dex... |
OMIM:270100 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Hypotension |
ORPHA:93256 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis |
OMIM:162200 |
Giant Cell Arteritis |
|
Epistaxis, Abnormal pleura morphology, Cough, Recurrent pharyngitis, Vasculitis, Aortic dissectio... |
ORPHA:397 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:608836 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Coarctation ... |
ORPHA:1692 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Diastasis recti, Pulmonary artery stenosis, Hypoplastic aortic arc... |
OMIM:265380 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root aneur... |
OMIM:617602 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Diabetes mellitus, Hypertriglyceridemia, Carotid artery stenosis, Pericardial effusion, Prominent... |
ORPHA:536532 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Stroke-like e... |
OMIM:105210 |
Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Pulmonary arterial hypertension, Tetralogy of Fallot, Arteriovenous mal... |
ORPHA:974 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Hypertension, Male hypogonadism, Increased blood urea nitrogen |
ORPHA:90321 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Precocious puberty, Reno... |
ORPHA:97685 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... |
ORPHA:228308 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Decreased serum iron, Hypertension, Stroke, Budd-Chiar... |
ORPHA:447 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decrea... |
OMIM:615947 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro... |
ORPHA:58 |
Noonan Syndrome 9 |
|
Coarctation of aorta |
OMIM:616559 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Arthrogryposis multiplex congenita, Double outlet right ventricle |
OMIM:301056 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Hypertension, Hypogonadism, Left ventricular h... |
OMIM:209900 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic morphology, Pul... |
ORPHA:2059 |
Blau Syndrome |
|
Pericarditis, Splenomegaly, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertensio... |
ORPHA:90340 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilate... |
OMIM:619573 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... |
OMIM:619329 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Patent ductus arteriosus |
OMIM:620113 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Papillorenal Syndrome |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:120330 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:139210 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hyperammonemia, Coarctation of aorta... |
OMIM:220111 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aorta, Pulmonary hypoplasia, S... |
ORPHA:1708 |
Schuurs-Hoeijmakers Syndrome |
|
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve |
OMIM:615009 |
Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atelectasis, Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:534 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Air... |
ORPHA:99106 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Thyroiditis, Hypertension, Pulmona... |
ORPHA:79259 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
Myhre Syndrome |
|
Precocious puberty, Hypertension, Abnormal cardiac septum morphology, Hypogonadism |
ORPHA:2588 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:500159 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Au-Kline Syndrome |
|
Hypertension, Aortic root aneurysm |
OMIM:616580 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Denys-Drash Syndrome |
|
Hypertension, Enlarged kidney |
OMIM:194080 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... |
OMIM:620306 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypertension, Hyperbilirubinemia, Atrial se... |
OMIM:613610 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... |
ORPHA:99226 |
Turner Syndrome |
|
Aortic arch aneurysm, Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocard... |
ORPHA:881 |
Sotos Syndrome |
|
Hip contracture, Ankle flexion contracture, Small cell lung carcinoma, Patent ductus arteriosus, ... |
ORPHA:821 |
Pauci-Immune Glomerulonephritis |
|
Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Cough, Small vessel vasculitis, Pul... |
ORPHA:93126 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Congenital diaphragmatic hernia, Camptodactyly of finger, Patent ductus arterios... |
ORPHA:2092 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Spontaneous pneumothorax, Arterial tortuosity, Descending thoracic aorta an... |
OMIM:610168 |
Orofaciodigital Syndrome I |
|
Hypertension, Vascular dilatation, Abnormal heart morphology |
OMIM:311200 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
Cockayne Syndrome A |
|
Hepatomegaly, Splenomegaly, Hypertension, Thymic hormone decreased, Hypogonadism, Arrhythmia, Per... |
OMIM:216400 |
2Q37 Microdeletion Syndrome |
|
Tracheomalacia, Abnormal aortic morphology, Congenital diaphragmatic hernia |
ORPHA:1001 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyro... |
ORPHA:653 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid h... |
ORPHA:139417 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Hypertension |
ORPHA:2036 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Pulmonary arteriovenous malformation, Hypertension... |
OMIM:606721 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertens... |
ORPHA:544482 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens... |
OMIM:602535 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Precocious puberty, Splenomegaly, Patent ductus arterios... |
OMIM:270400 |
Noonan Syndrome 10 |
|
Left ventricular hypertrophy, Pleural effusion, Patent ductus arteriosus, Coarctation of aorta |
OMIM:616564 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root ... |
ORPHA:90324 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Bronchitis, Episodic respiratory distress... |
ORPHA:1199 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
ORPHA:329224 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cerebral arteriovenous malformation, Venous varicosities of celiac and mesenteric vessels, Gastro... |
OMIM:187300 |
Hallermann-Streiff Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea, Rhabdomyosarcoma, Abnormal lung lobation, Coarctation of aorta, Abnormal aortic morphology... |
ORPHA:1052 |
Cockayne Syndrome |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Retinal hemorrhage, Absence of pubertal developmen... |
ORPHA:191 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Bicuspid aortic valve, Hypercalcemia, Portal hypertension, Ventricular septal ... |
OMIM:194050 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... |
ORPHA:3472 |
Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Respiratory insufficienc... |
OMIM:601559 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Respiratory failure requiring assisted ventilation, Progressive pulmonary function impairment, Ab... |
ORPHA:77293 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Loeys-Dietz Syndrome 1 |
|
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... |
OMIM:609192 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Pierson Syndrome |
|
Hypertension, Hypoproteinemia, Retinal hemorrhage |
OMIM:609049 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Portal hypertension, Splenomegaly, Hepatosplenomegaly,... |
ORPHA:731 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia |
ORPHA:2203 |
Orofaciodigital Syndrome Type 1 |
|
Hypertension, Vascular dilatation |
ORPHA:2750 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:618838 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery |
ORPHA:709 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Cardiac myxoma, Congestive heart failure |
OMIM:181270 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Hypertension... |
OMIM:210710 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... |
OMIM:121050 |
Unilateral Polymicrogyria |
|
Epistaxis, Stroke, Apnea, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Arima Syndrome |
|
Hypertension, Hepatomegaly |
OMIM:243910 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Abnormal lung morphology, Tendon xanthomatosis, Distal amyotrophy, Ab... |
ORPHA:909 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Aortic aneurysm,... |
ORPHA:51 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Pulmonary artery atresia, Patent ductus arteriosus, Camptodactyly |
OMIM:616894 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Congestive heart failure, De... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension, Neonatal hyperbilirubinemia |
OMIM:300896 |
Coffin-Siris Syndrome 4 |
|
Pulmonary artery atresia, Macroglossia, Patent ductus arteriosus |
OMIM:614609 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st... |
ORPHA:2306 |
Renal Dysplasia |
|
Hypertension, Enlarged kidney |
ORPHA:93108 |
Cockayne Syndrome B |
|
Splenomegaly, Hypertension, Arrhythmia, Hepatomegaly |
OMIM:133540 |
Squalene Synthase Deficiency |
|
Bicuspid aortic valve |
OMIM:618156 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension |
ORPHA:536 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Arteria lusoria, Left aortic arch with cervical origin of the right sub... |
OMIM:212093 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... |
OMIM:613795 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Hypertension, Hepatosplenomegaly |
OMIM:266920 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Congestive... |
OMIM:252500 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... |
ORPHA:2396 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arteri... |
ORPHA:60030 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly, Mucosal telangiectasiae |
ORPHA:2463 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abno... |
ORPHA:2162 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Pulmonary artery sling, Flexion contracture, Tetralogy of Fallot, Coarctation of aorta, Camptodac... |
ORPHA:261537 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... |
ORPHA:42775 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... |
OMIM:245600 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Autosomal Recessive Robinow Syndrome |
|
Recurrent respiratory infections, Abnormal aortic morphology, Camptodactyly of finger, Tetralogy ... |
ORPHA:1507 |
Kleefstra Syndrome |
|
Ventricular septal defect, Arrhythmia, Tetralogy of Fallot, Bicuspid aortic valve |
ORPHA:261494 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Tetralogy of Fallot, Coarc... |
ORPHA:261552 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:610759 |
Igg4-Related Kidney Disease |
|
Abnormal lung morphology, Interstitial pneumonitis, Abnormal aortic morphology, Arteritis, Pleuri... |
ORPHA:449395 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:610443 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve |
ORPHA:96169 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... |
ORPHA:581 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve |
OMIM:618529 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Inappropriate antidiuretic ... |
ORPHA:79330 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:130720 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper... |
OMIM:130650 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... |
ORPHA:453499 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Valvular pulmonary stenosis, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale |
OMIM:300707 |
Syndromic Diarrhea |
|
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:84064 |
Fucosidosis |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Cardiomegaly |
OMIM:230000 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly |
ORPHA:97297 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrial septal defect, Hypertension, Corneal neovascularization |
OMIM:308205 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim... |
ORPHA:508498 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
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Aortic valve stenosis, Bicuspid aortic valve, Mitral regurgitation |
OMIM:613563 |
Gaucher Disease, Perinatal Lethal |
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Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Juvenile Polyposis Syndrome |
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Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistaxis, Pulmonary arteriovenous m... |
ORPHA:2929 |
Fanconi Anemia |
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Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... |
ORPHA:84 |
Distal Deletion 15Q |
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Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca... |
ORPHA:116 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Charge Syndrome |
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Overriding aorta, Facial palsy, Patent ductus arteriosus, Right aortic arch, Pulmonary artery atr... |
OMIM:214800 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Frontometaphyseal Dysplasia 2 |
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Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:617137 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... |
ORPHA:363958 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Bicuspid aortic valve |
OMIM:271640 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:352665 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... |
ORPHA:353281 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,... |
OMIM:619475 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:613355 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Pulmonary artery dilatation, Recurrent respiratory infections, Patent ductus arteriosus, Asthma, ... |
OMIM:619534 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Prolonged QT interval, Tachycardia, Bicuspid aortic valve |
ORPHA:1772 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Abnormal heart morphology, ... |
OMIM:612289 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... |
OMIM:612474 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... |
ORPHA:353277 |
Cranioectodermal Dysplasia 1 |
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Bicuspid aortic valve |
OMIM:218330 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A... |
ORPHA:438213 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... |
OMIM:607872 |
Trichorhinophalangeal Syndrome, Type Ii |
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Partial anomalous pulmonary venous return, Bicuspid aortic valve, Myocardial infarction, Right ve... |
OMIM:150230 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Abnormal heart morphology, Abnormal cardiac septum morphology, Pulmonic st... |
ORPHA:2152 |
Microphthalmia, Syndromic 1 |
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Bicuspid aortic valve |
OMIM:309800 |