Cardiomyopathy, Dilated, 1R |
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Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Cardiomyopathy, Dilated, 2D |
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Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Lambert Syndrome |
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Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
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Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... |
OMIM:601493 |
Left Ventricular Noncompaction 10 |
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Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... |
OMIM:612158 |
Left Ventricular Noncompaction 8 |
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Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Cardiomyopathy, Familial Hypertrophic, 26 |
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Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
Isolated Right Ventricular Hypoplasia |
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Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Cardiomyopathy, Dilated, 1Gg |
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Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
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Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... |
OMIM:619424 |
Familial Isolated Restrictive Cardiomyopathy |
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Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, R... |
ORPHA:75249 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Congenital Gerbode Defect |
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Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... |
OMIM:115197 |
Left Ventricular Noncompaction 1 |
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Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... |
OMIM:604169 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Cirrhotic Cardiomyopathy |
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Right atrial enlargement, Abnormal bleeding, Third heart sound, Left ventricular diastolic dysfun... |
ORPHA:57777 |
Atrial Fibrillation, Familial, 10 |
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Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Atrial Septal Defect, Coronary Sinus Type |
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Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
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Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Atrial Septal Defect, Ostium Primum Type |
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Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
Familial Dilated Cardiomyopathy |
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Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... |
ORPHA:217607 |
Coronary Arterial Fistula |
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Angina pectoris, Abnormal heart morphology, Abnormal left ventricular function, Bacterial endocar... |
ORPHA:2041 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Right atrial enlargement, Tricuspid regurgitation, Right ventricular hypertrophy, Atrial septal d... |
ORPHA:1677 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
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Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... |
ORPHA:422 |
Atrial Septal Defect, Ostium Secundum Type |
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Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
X-Linked Mandibulofacial Dysostosis |
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Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Branchial anomaly, Webbed neck |
ORPHA:1131 |
Adams-Oliver Syndrome 5 |
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Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Patent foramen ovale,... |
OMIM:616028 |
Atrial Standstill |
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Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Atrial Septal Defect, Sinus Venosus Type |
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Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... |
ORPHA:99105 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
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Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... |
OMIM:615616 |
Cardiomyopathy, Dilated, 1D |
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Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Endocardial fibroelas... |
OMIM:619313 |
Congenital Factor X Deficiency |
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Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Congenital Fibrinogen Deficiency |
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Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
Peripartum Cardiomyopathy |
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Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
Sick Sinus Syndrome 2 |
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Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
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Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Klippel-Trénaunay Syndrome |
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Atrial septal defect, Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gastroint... |
ORPHA:90308 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Macroglossia, Atrioventricular canal defect, Ventric... |
ORPHA:453499 |
Long Qt Syndrome 15 |
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Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... |
OMIM:616249 |
Chronic Thromboembolic Pulmonary Hypertension |
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Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... |
ORPHA:70591 |
Cardiomyopathy, Dilated, 1S |
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Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... |
OMIM:613426 |
Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Distal 22Q11.2 Microdeletion Syndrome |
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Atrial septal defect, Short stature, Branchial fistula, Camptodactyly of finger, Ventricular sept... |
ORPHA:261330 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Severe postnatal growth retardation, Camptodactyly, Knee flexion contracture, Branchial cyst, Ank... |
ORPHA:435938 |
Oligomeganephronia |
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Branchial cyst, Hypertension, Secundum atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:2260 |
Naxos Disease |
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Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
Nestor-Guillermo Progeria Syndrome |
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Growth delay, Right atrial enlargement, Flexion contracture, Short stature, Mitral regurgitation,... |
OMIM:614008 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventr... |
OMIM:619705 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... |
OMIM:612863 |
Holoprosencephaly |
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Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, Short neck, Arrhythmia, Tet... |
ORPHA:2162 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Bicuspid aortic valve, Atrial septal defect, Macroglossia, Type 1 muscle fiber atrophy, Ventricul... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Bicuspid aortic valve, Atrial septal defect, Macroglossia, Type 1 muscle fiber atrophy, Ventricul... |
ORPHA:352665 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
Branchiootic Syndrome 1 |
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Branchial fistula |
OMIM:602588 |
Distal 22Q11.2 Microduplication Syndrome |
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Tricuspid valve prolapse, Tricuspid regurgitation, Macroglossia, Camptodactyly of toe, Branchial ... |
ORPHA:261337 |
Branchiootorenal Syndrome 1 |
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Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Crimean-Congo Hemorrhagic Fever |
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Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
Acquired Purpura Fulminans |
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Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
Bor Syndrome |
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Branchial cyst, Facial palsy |
ORPHA:107 |
Branchiootic Syndrome |
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Branchial fistula, Facial palsy |
ORPHA:52429 |
Rhabdoid Tumor |
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Hypertension, Internal hemorrhage |
ORPHA:69077 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly |
ORPHA:466950 |
Wiskott-Aldrich Syndrome |
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Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... |
ORPHA:906 |
8Q24.3 Microdeletion Syndrome |
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Atrioventricular canal defect, Short stature, Short neck, Spina bifida occulta, Ventricular septa... |
ORPHA:508488 |
Hemorrhagic Fever-Renal Syndrome |
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Melena, Petechiae, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, ... |
ORPHA:340 |
Marburg Hemorrhagic Fever |
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Petechiae, Excessive bleeding after a venipuncture, Bruising susceptibility, Abnormal bleeding, H... |
ORPHA:99826 |
Treacher-Collins Syndrome |
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Branchial fistula, Encephalocele |
ORPHA:861 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension |
ORPHA:247257 |
Branchiooculofacial Syndrome |
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Short neck, Elbow flexion contracture, Branchial anomaly, Postnatal growth retardation, Facial pa... |
OMIM:113620 |
Witteveen-Kolk Syndrome |
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Congenital diaphragmatic hernia, Short stature, Intracranial hemorrhage, Branchial fistula, Contr... |
OMIM:613406 |
Craniofacial Microsomia |
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Hypoplasia of facial musculature, Tetralogy of Fallot, Ventricular septal defect, Branchial anoma... |
OMIM:164210 |
Hellp Syndrome |
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Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
Superficial Siderosis |
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Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Lower limb muscle w... |
ORPHA:247245 |
Yellow Fever |
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Supraventricular arrhythmia, Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleed... |
ORPHA:99829 |
Tuberous Sclerosis Complex |
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Hypertension, Cardiac rhabdomyoma, Internal hemorrhage |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
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Telangiectasia of the skin, Bruising susceptibility, Short stature, Abnormal bleeding, Aplasia/Hy... |
ORPHA:286 |
Hepatocellular Carcinoma |
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Internal hemorrhage, Budd-Chiari syndrome, Portal hypertension, Hypotension |
ORPHA:88673 |
Metacarpal 4-5 Fusion |
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OMIM:309630 |