Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Hh |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613252 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Neonatal death, Congestive heart failure |
OMIM:301021 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Cardiomyopathy, Dilated, 2A |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:611880 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular outflow tract o... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter... |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613694 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... |
OMIM:601493 |
Stuve-Wiedemann Syndrome 2 |
|
Stillbirth, Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, Intrauterine growt... |
OMIM:619751 |
Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... |
OMIM:613424 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... |
OMIM:613697 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Congestive heart failure |
OMIM:236750 |
Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure |
ORPHA:132 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure |
OMIM:192600 |
Cardiomyopathy, Dilated, 1Kk |
|
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:615248 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Intrauterine growth retardation, Congestive heart failure |
OMIM:616045 |
Sandhoff Disease |
|
Splenomegaly, Congestive heart failure |
ORPHA:796 |
Atransferrinemia |
|
Hypochromic anemia, Congestive heart failure |
OMIM:209300 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:618234 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... |
ORPHA:217607 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:1345 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... |
OMIM:613251 |
3-Methylglutaconic Aciduria, Type V |
|
Intrauterine growth retardation, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated card... |
OMIM:610198 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:615703 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure |
ORPHA:2022 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141179 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... |
OMIM:612098 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... |
OMIM:608751 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:225 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cardiomyopathy, Congestive heart failure |
OMIM:613313 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141184 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... |
OMIM:540000 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure |
OMIM:602390 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure |
OMIM:616794 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... |
ORPHA:3092 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Peripartum Cardiomyopathy |
|
Left bundle branch block, Abnormal T-wave, Anemia, Mitral regurgitation, Right ventricular failur... |
ORPHA:563 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Paroxysmal atrial tachycardia, Thrombocytopenia, Cardiac arrest, Congestive... |
ORPHA:49827 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Eosinophil... |
ORPHA:75566 |
X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly |
ORPHA:1131 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia, Congestive h... |
ORPHA:108 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Bradycardia, Congestive heart failure |
OMIM:619048 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... |
OMIM:618052 |
Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:206546 |
Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Microcytic anemia, Patent ductus arteriosus, Internal hemorrhage, Gastrointes... |
ORPHA:90308 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Right bundle bran... |
OMIM:255160 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:614473 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Congestive heart failure |
OMIM:618654 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Arrhythmia, Congestive heart failure |
ORPHA:157973 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... |
ORPHA:98909 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure |
ORPHA:163596 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure |
ORPHA:85446 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Arrhythmia, Cerebral ischemia, Patent ductus arteriosus, Right bundle branc... |
ORPHA:1880 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Arrhythmia, Hemolytic anemia, Congestive heart failure |
ORPHA:98375 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Congestive heart failure |
OMIM:269920 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypertension, Conges... |
ORPHA:2414 |
Aarskog-Scott Syndrome |
|
Umbilical hernia, Congestive heart failure |
ORPHA:915 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Left ventricular outflow tract obstruction, Tachycardia, Abnormal QRS complex, Hea... |
ORPHA:860 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Cardiac Valvular Dysplasia, X-Linked |
|
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure |
OMIM:314400 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Low-output congestive heart failure |
ORPHA:91130 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
ST segment depression, Cerebral hemorrhage, Leukocytosis, Cerebral ischemia, Syncope, Prolonged Q... |
ORPHA:90065 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure |
OMIM:300886 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:70472 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure |
ORPHA:90037 |
Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... |
ORPHA:99106 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... |
ORPHA:99103 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Familial Cutaneous Collagenoma |
|
Angina pectoris, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Abnormal autonomic nervous system physiology, Cystic hygroma, Branchial ... |
ORPHA:453499 |
Barth Syndrome |
|
Granulocytopenia, Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic v... |
OMIM:302060 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Systolic heart murm... |
ORPHA:99095 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... |
ORPHA:330001 |
Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure |
ORPHA:261519 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:1194 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... |
ORPHA:1329 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Congestive heart failure |
OMIM:253250 |
Cirrhotic Cardiomyopathy |
|
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... |
ORPHA:57777 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... |
ORPHA:439 |
Polymyositis |
|
Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atrioventricular conduction, Dilated card... |
ORPHA:732 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Left bundle branch block, Congestive heart failure, Sudden cardiac death, Syncope, Ventricular fi... |
OMIM:115197 |
Holoprosencephaly |
|
Hydrocephalus, Holoprosencephaly, Short neck, Optic atrophy, Spinal dysraphism, Branchial anomaly... |
ORPHA:2162 |
Aorto-Ventricular Tunnel |
|
Congestive heart failure, Heart murmur |
ORPHA:3400 |
Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Sinus tachycardia, Splenomegaly, Palpitatio... |
ORPHA:525731 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:606703 |
Aortic Arch Interruption |
|
Intermittent claudication, Blood pressure substantially higher in arms than legs, Tricuspid regur... |
ORPHA:2299 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur |
ORPHA:615 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Congestive heart failure |
OMIM:235200 |
Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Anemia, Abnormal proportion of naive CD4 T cells, Cerebral ischemia, Thrombocytopeni... |
ORPHA:1830 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Heart murmur, Syncope,... |
ORPHA:275766 |
Pseudoxanthoma Elasticum |
|
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... |
OMIM:264800 |
Fabry Disease |
|
Angina pectoris, Anemia, Arrhythmia, Myocardial infarction, Hypertension, Transient ischemic atta... |
OMIM:301500 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Splenomegaly, Leukopenia, Patent ductus arteriosus, Neutropenia, Ane... |
OMIM:617303 |
Dk1-Cdg |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:91131 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Congestive he... |
ORPHA:90033 |
American Trypanosomiasis |
|
Splenomegaly, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart failure |
ORPHA:3386 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure |
ORPHA:3077 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:212140 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Arrhythmia, Patent ductus arteriosus, Gastrointestin... |
ORPHA:363705 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... |
OMIM:115250 |
Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:266500 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Congestive heart failure |
ORPHA:2505 |
Immune-Mediated Necrotizing Myopathy |
|
Palpitations, Raynaud phenomenon, Myocarditis, Congestive heart failure |
ORPHA:206569 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Congestive heart failure |
OMIM:176670 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Congestive heart failure |
ORPHA:52430 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Cardiomyopathy, Congestive heart failure |
OMIM:616866 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... |
ORPHA:774 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Branchial fistula, Optic disc coloboma, Patent ductus arteriosus, Webbed neck, Low... |
ORPHA:261337 |
Gm1-Gangliosidosis, Type I |
|
Vacuolated lymphocytes, Splenomegaly, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Intrau... |
OMIM:230500 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely reduced left ventricular ej... |
ORPHA:444013 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611126 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Congestive heart failure |
ORPHA:500533 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Atrial flutter, Congestive ... |
ORPHA:324410 |
Muscular Dystrophy, Duchenne Type |
|
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure |
OMIM:310200 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Eosinophilia, Myocarditis, Vasculitis, Myocardial infarction... |
ORPHA:183 |
Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Patent ductus arteriosus, Umbilical hernia, Congestive heart failure |
OMIM:601808 |
Mucopolysaccharidosis, Type Ii |
|
Hepatosplenomegaly, Splenomegaly, Umbilical hernia, Congestive heart failure |
OMIM:309900 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Sudden cardiac death, Thrombocytopenia, Dilated cardiomyopathy, Hypertroph... |
ORPHA:99901 |
Gm1 Gangliosidosis |
|
Splenomegaly, Hepatosplenomegaly, Patent ductus arteriosus, Cardiomyopathy, Congestive heart failure |
ORPHA:354 |
Cardiac Diverticulum |
|
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... |
ORPHA:1686 |
Leigh Syndrome With Cardiomyopathy |
|
Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ... |
ORPHA:70474 |
Primary Lipodystrophy |
|
Angina pectoris, Splenomegaly, Hypertension, Cardiomyopathy, Congestive heart failure |
ORPHA:90970 |
Classic Multiminicore Myopathy |
|
Right ventricular failure, Congestive heart failure |
ORPHA:324604 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616482 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Optic nerve hypoplasia, Cystic hygroma, Branchial anomaly, Increased nuc... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Optic nerve hypoplasia, Cystic hygroma, Branchial anomaly, Increased nuc... |
ORPHA:352665 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus |
ORPHA:261330 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertrophic cardiomyopathy, Splenomegaly, Congestive heart failure |
ORPHA:79083 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Splenomegaly, Arrhythmia, Portal hypertension, Cardiomyopathy, Congestive heart failure, Elevated... |
ORPHA:465508 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Hepatosplenomegaly, T... |
ORPHA:505248 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... |
OMIM:613426 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Arrhythmia, Cardiomyopathy, Congestive heart failure |
ORPHA:26791 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy... |
ORPHA:508542 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertrophic cardiomyopathy, Splenomegaly, Congestive heart failure |
ORPHA:2348 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
Osteogenesis Imperfecta, Type Ii |
|
Pulmonary insufficiency, Congestive heart failure |
OMIM:166210 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormality of neutrophils, Gast... |
ORPHA:33226 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Chronic hemolytic anemia, N... |
OMIM:615512 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Dilated cardiomyopathy, Portal hypertension, Congestive heart failure |
ORPHA:367 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aortic regurgitation, Dilated cardio... |
ORPHA:2326 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Neutropenia, Thrombocytopenia, Intrauterine growth retardation, Congestive heart failure |
OMIM:616271 |
Aorta Coarctation |
|
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Congestive heart failure |
ORPHA:1457 |
Ethylene Glycol Poisoning |
|
Tachycardia, Hypotension, Shock, Renal tubular epithelial necrosis, Hypertension, Atrial fibrilla... |
ORPHA:31826 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Eosinophilia, Retinal hemorrhage, Spina bifida occulta, Cerebral isch... |
ORPHA:464 |
Treacher-Collins Syndrome |
|
Branchial fistula, Patent ductus arteriosus, Encephalocele |
ORPHA:861 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Vasculitis, Myocardial infarction, Chronic lymphatic leukemia, Gastrointestin... |
ORPHA:91139 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231222 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Leukocytosis, Splenomegaly, Hematochezia, Dilated cardiomyopathy, Anemia, Cardiomyopathy, Congest... |
OMIM:615895 |
Microscopic Polyangiitis |
|
Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart fa... |
ORPHA:727 |
Colchicine Poisoning |
|
Leukocytosis, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive he... |
ORPHA:31824 |
Monosomy 18Q |
|
Aortic valve stenosis, Left-to-right shunt, Mitral regurgitation, Patent ductus arteriosus, Conge... |
ORPHA:1600 |
African Iron Overload |
|
Hepatic periportal necrosis, Congestive heart failure |
ORPHA:139507 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, Cardiomyopathy, Congestive heart failure |
ORPHA:746 |
Congenital Generalized Lipodystrophy |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
ORPHA:528 |
Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Patent ductus art... |
ORPHA:980 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... |
ORPHA:231226 |
Avian Influenza |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Congestive heart failure |
ORPHA:454836 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Abnormal T-wave, Myeloproliferative disorder, ... |
ORPHA:70591 |
Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Patent ductus arteriosus, Umbilic... |
OMIM:608328 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Pulmonary arterial hypertension, Congestive heart failure, Hypertensi... |
ORPHA:220393 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Congestive heart failure, Heart murmur |
ORPHA:3309 |
Atrioventricular Septal Defect 3 |
|
Midsystolic murmur, First degree atrioventricular block, Hypertension, Pulmonary arterial hyperte... |
OMIM:600309 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial rupture, Umbilical hernia, Congestive heart failure |
ORPHA:1900 |
Friedreich Ataxia |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure |
OMIM:229300 |
Hyperkalemic Periodic Paralysis |
|
Arrhythmia, Congestive heart failure |
ORPHA:682 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Anemia, Constrictive pericarditis, Congestive heart failure |
ORPHA:67 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231214 |
Mitochondrial Trifunctional Protein Deficiency |
|
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure |
OMIM:609015 |
Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Mitral regurgitation, Myelopathy, Heart murmur, Aortic regurgitation, Umbilical her... |
OMIM:252500 |
Werner Syndrome |
|
Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure |
ORPHA:902 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left ventricular outflow tract obstruction, Left-to-right shunt, Heart murmur, Patent ductus arte... |
ORPHA:99050 |
Laubry-Pezzi Syndrome |
|
Right ventricular outlet tract obstruction, Palpitations, Elevated pulmonary artery pressure, Aor... |
ORPHA:99094 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Gastrointestinal hemorrhage, Anemia, Hypertension, Congestive heart failure |
ORPHA:85450 |
Leigh Syndrome |
|
Neutropenia, Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Congestive hea... |
ORPHA:506 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171300 |
Martsolf Syndrome 1 |
|
Cardiac arrest, Cardiomyopathy, Congestive heart failure |
OMIM:212720 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Splenomegaly, Ventricular arrhythmia, Abnormal atrioventricular cond... |
ORPHA:280365 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Neutrophilia, Vasculitis in the skin, Raynaud phenomenon, Splenomega... |
ORPHA:3260 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Junctional ectopic tac... |
ORPHA:137675 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Intrauterine growth retardation, Splenomegaly, Congestive heart failure |
OMIM:608779 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Intrauterine growth retardation, Congestive heart failure |
OMIM:619355 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Aceruloplasminemia |
|
Refractory anemia, Hypochromic microcytic anemia, Congestive heart failure |
ORPHA:48818 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Anemia... |
ORPHA:324 |
Alstrom Syndrome |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure |
OMIM:203800 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Hypertens... |
ORPHA:3342 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Congestive heart failure |
OMIM:208000 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... |
OMIM:620066 |
Scorpion Envenomation |
|
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... |
ORPHA:466677 |
Vici Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Dilated cardiomyopathy, Cardiomyopathy, Cong... |
OMIM:242840 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
Capillary Malformation-Arteriovenous Malformation |
|
High-output congestive heart failure, Cerebral ischemia, Telangiectasia, Epistaxis, Congestive he... |
ORPHA:137667 |
Scimitar Syndrome |
|
Left-to-right shunt, Patent ductus arteriosus, Heart block, Pulmonary arterial hypertension, Trun... |
ORPHA:185 |
Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Splenomegaly, Congestive heart failure |
ORPHA:579 |
Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Congenital hypoplastic anemia, Tricuspid stenosis, Thrombocytosis, Neut... |
OMIM:105650 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... |
ORPHA:391487 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure |
OMIM:617403 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur |
ORPHA:1054 |
Seckel Syndrome 10 |
|
Elevated hemoglobin A1c, Hypertension, Congestive heart failure |
OMIM:617253 |
Carney Complex, Type 1 |
|
Congestive heart failure |
OMIM:160980 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Hypertension, Congestive he... |
ORPHA:363618 |
Abetalipoproteinemia |
|
Anemia, Reticulocytosis, Acanthocytosis, Congestive heart failure |
ORPHA:14 |
Branchiooculofacial Syndrome |
|
Short neck, Branchial anomaly, Facial palsy, Intrauterine growth retardation, Low posterior hairline |
OMIM:113620 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Intrauterine growth retardation, Supravalvular aortic sten... |
ORPHA:90349 |
Autosomal Dominant Hypocalcemia |
|
Arrhythmia, Hypotension, Congestive heart failure |
ORPHA:428 |
Listeriosis |
|
Splenic abscess, Myocarditis, Pericarditis, Hepatic granulomatosis, Granulomatosis, Arteritis, Co... |
ORPHA:533 |
Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis, Congestive heart failure |
OMIM:231050 |
Erdheim-Chester Disease |
|
Anemia, Congestive heart failure |
ORPHA:35687 |
Cutis Laxa, Autosomal Dominant 1 |
|
Mitral regurgitation, Aortic regurgitation, Congestive heart failure |
OMIM:123700 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Con... |
ORPHA:91347 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Low-output conge... |
ORPHA:308552 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Arterial rupture, Congestive heart failure |
OMIM:225400 |
African Trypanosomiasis |
|
Splenomegaly, Hepatosplenomegaly, Myelopathy, Arrhythmia, Myocarditis, Third degree atrioventricu... |
ORPHA:3385 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Vacuolated lymphocytes, Splenomegaly, Palpitations, Arrhythmia, Low-output conge... |
ORPHA:565612 |
Parkes Weber Syndrome |
|
Bounding pulse, Myelopathy, Subarachnoid hemorrhage, High-output congestive heart failure |
ORPHA:90307 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Congestive heart failure |
ORPHA:444077 |
Primary Sclerosing Cholangitis |
|
Splenomegaly, Palmar telangiectasia, Hepatosplenomegaly, Spider hemangioma, Portal hypertension, ... |
ORPHA:171 |
Craniofacial Microsomia |
|
Patent ductus arteriosus, Hydrocephalus, Occipital encephalocele, Branchial anomaly |
OMIM:164210 |
Marfan Syndrome |
|
Congestive heart failure, Meningocele |
ORPHA:558 |
Kawasaki Disease |
|
Leukocytosis, Arrhythmia, Vasculitis, Myocarditis, Pericarditis, Congestive heart failure |
ORPHA:2331 |
Angioosteohypertrophic Syndrome |
|
Telangiectasia of the skin, Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart fai... |
ORPHA:2346 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Heart murmur, Aortic regurgitation, Intrauterine growth retardation, Congestive heart failure |
OMIM:619475 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Bilateral polymicrogyria, Intrauterine growth retardation |
OMIM:613406 |
Williams Syndrome |
|
Supravalvular aortic stenosis, Pulmonic stenosis, Mitral regurgitation, Sudden cardiac death, Spi... |
ORPHA:904 |
Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... |
ORPHA:423 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:73224 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Short neck, Spina bifida occulta, Patent ductus arteriosus, Branchial cys... |
ORPHA:508488 |
Hallermann-Streiff Syndrome |
|
Congestive heart failure |
ORPHA:2108 |
Friedreich Ataxia And Congenital Glaucoma |
|
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Concentric hypertrophic card... |
OMIM:229310 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Arrhythmia, Microcytic anemia, Thrombocytopenia, Congestive heart failure |
OMIM:256040 |
Autosomal Dominant Cutis Laxa |
|
Mitral regurgitation, Aortic regurgitation, Intrauterine growth retardation, Congestive heart fai... |
ORPHA:90348 |
Marfan Syndrome |
|
Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure |
OMIM:154700 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
High-output congestive heart failure, Cerebral hemorrhage, Right-to-left shunt, Subarachnoid hemo... |
OMIM:610655 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy |
OMIM:601992 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Aortic valve stenosis, Hypertension, Congestive heart failure |
ORPHA:79474 |
Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Congestive heart failure |
ORPHA:98908 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy |
OMIM:302900 |
Carney Complex |
|
Hypertension, Congestive heart failure |
ORPHA:1359 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tricuspid regurgitation, Mitral regurgitation, Right ventricular failure, Tachycardia, Patent duc... |
ORPHA:99125 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Congestive heart failure |
OMIM:182250 |
Alström Syndrome |
|
Abnormal coronary artery physiology, Splenomegaly, Hepatosplenomegaly, Dilated cardiomyopathy, Po... |
ORPHA:64 |
Tetralogy Of Fallot |
|
Intrauterine growth retardation |
ORPHA:3303 |
Hemangioma, Capillary Infantile |
|
|
OMIM:602089 |