| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
| 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 |
| Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... |
OMIM:613172 |
| Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol... |
OMIM:607482 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
| Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure |
OMIM:611879 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... |
ORPHA:99050 |
| Cardiomyopathy, Dilated, 1Ff |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure |
OMIM:613286 |
| Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... |
OMIM:185500 |
| Cardiomyopathy, Dilated, 1L |
|
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... |
OMIM:606685 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
| Cardiomyopathy, Dilated, 1K |
|
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure |
OMIM:605582 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... |
ORPHA:2847 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
| Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... |
OMIM:611880 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Stroke, Systol... |
ORPHA:99105 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Intrinsic hand muscle atrophy, Limb-girdle muscle weakness, F... |
ORPHA:98912 |
| Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Stroke, Atrioventricular canal defect... |
ORPHA:97214 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
| Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
| Familial Dilated Cardiomyopathy |
|
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... |
ORPHA:217607 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... |
ORPHA:422 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, P... |
ORPHA:563 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... |
OMIM:108770 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
| Cardiomyopathy, Dilated, 1U |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613694 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Stroke, Tricuspid regurgitation, Left ventricular hypertrophy, Atr... |
OMIM:614022 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... |
OMIM:613255 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... |
OMIM:605362 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Arteria lu... |
OMIM:212093 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
| Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function |
ORPHA:217622 |
| Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Alopecia |
OMIM:114580 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... |
OMIM:601419 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Polysple... |
OMIM:306955 |
| Cardiomyopathy, Dilated, 1V |
|
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... |
OMIM:613697 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... |
ORPHA:99106 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... |
OMIM:614676 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
| Pseudoxanthoma Elasticum |
|
Mitral stenosis, Angina pectoris, Intermittent claudication, Stroke, Restrictive cardiomyopathy, ... |
OMIM:264800 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Cardiomyopathy, Dilated, 2E |
|
Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... |
OMIM:613751 |
| Cardiomyopathy, Dilated, 1Bb |
|
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:612877 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
| Desminopathy |
|
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... |
ORPHA:98909 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... |
OMIM:600858 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Ventricular septal de... |
OMIM:620025 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Oligohydramnios, Cholestasis, Situs inver... |
OMIM:615415 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia |
ORPHA:3283 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Stroke, Systolic heart murmur, Ped... |
ORPHA:99103 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... |
OMIM:619461 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... |
OMIM:617336 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Patent ductus art... |
OMIM:618782 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure |
OMIM:614672 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic tr... |
OMIM:212138 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... |
OMIM:615616 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Myopathy, Congestive... |
OMIM:618234 |
| Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... |
ORPHA:3384 |
| Neonatal Lupus Erythematosus |
|
Atrioventricular block, Hepatomegaly, Splenomegaly, Hepatic failure, Arrhythmia, Elevated hepatic... |
ORPHA:398124 |
| Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Portal hypert... |
OMIM:616589 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... |
ORPHA:615 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... |
OMIM:615248 |
| Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
| Carvajal Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:65282 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... |
OMIM:608751 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holos... |
ORPHA:1677 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Stroke, Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Left ventricu... |
OMIM:619402 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... |
ORPHA:980 |
| Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:617222 |
| Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... |
ORPHA:206546 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Webbed neck, Truncus arteriosus |
OMIM:601355 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... |
ORPHA:99104 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... |
OMIM:616564 |
| Thymic Aplasia With Fetal Death |
|
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus |
OMIM:274210 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:616198 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... |
ORPHA:300751 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Dermal translucency, Arterial rupture, Atrial septal defect |
OMIM:619115 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Trunc... |
ORPHA:2516 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... |
ORPHA:168796 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradyc... |
OMIM:618815 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
| Winchester Syndrome |
|
Kyphosis, Corneal opacity, Hirsutism |
OMIM:277950 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:615440 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... |
OMIM:605676 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... |
OMIM:163800 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure |
ORPHA:871 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Hypertrophic cardiomyopa... |
OMIM:619705 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Calcification of the aorta, Mitral valve calcificati... |
OMIM:231005 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... |
OMIM:612863 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... |
OMIM:619343 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... |
OMIM:601705 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... |
ORPHA:3426 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Pallor, Paroxysmal atrial tachycardia, Ventricular septal defect, C... |
ORPHA:49827 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... |
ORPHA:99095 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Pro... |
ORPHA:57777 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... |
OMIM:255160 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... |
OMIM:613313 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Atrial septal defect, Peripheral arteriovenous fistula, Hydrops fetalis, Pulmonary ... |
ORPHA:90308 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... |
OMIM:617294 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Conges... |
OMIM:602390 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
| Ebstein Anomaly |
|
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... |
OMIM:224700 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... |
ORPHA:231736 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Atrial septal defect, Tachycardia, Arrhythmia, Exercise-induced rhabdomyolysis, Ven... |
ORPHA:26793 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... |
OMIM:616501 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... |
OMIM:619897 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Keutel Syndrome |
|
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... |
ORPHA:85202 |
| Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... |
ORPHA:75249 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Pulmonary edema, Orthostat... |
ORPHA:330001 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctat... |
OMIM:605275 |
| Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo... |
OMIM:610205 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Elevated hepatic transa... |
OMIM:212140 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, S... |
ORPHA:85451 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Camptodactyly of finger, Coarctation of aorta, Tetralogy o... |
ORPHA:2008 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
| Galactosialidosis |
|
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column |
ORPHA:351 |
| Geleophysic Dysplasia 2 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, Mitral valve pr... |
OMIM:614185 |
| Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... |
ORPHA:1596 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Abnormal cardiac septum morphology, Aortic regurgitation, Pulmonary artery stenosis, Mitral atresia |
ORPHA:140952 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:610840 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:607829 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure |
ORPHA:225 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Tricuspid regurgitation, Cutis laxa, Mitral regurgitation, Short chordae t... |
OMIM:314400 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Shoulder girdle muscle weakness, EMG: myopathic abnormalities, Palpitation... |
ORPHA:263297 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98863 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Alopecia |
OMIM:212835 |
| Tietz Syndrome |
|
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... |
ORPHA:42665 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Decreased liver function, Abnormal enzyme/coenzyme activity, Hypertrop... |
ORPHA:70472 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... |
OMIM:120200 |
| Dk1-Cdg |
|
Abnormal enzyme/coenzyme activity, Arrhythmia, Cardiomyocyte hypertrophy, Elevated hepatic transa... |
ORPHA:91131 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... |
OMIM:265380 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation, Pulmonic ste... |
OMIM:617506 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Hepatomegaly, Flexion contracture, Camptodactyly of finger, ... |
ORPHA:1194 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... |
OMIM:608758 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
| Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, ... |
OMIM:609029 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Left-to-right shunt, Muscular ventricular septal defect, Camptodactyly, Pat... |
ORPHA:363444 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Multilobula... |
OMIM:601186 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
| Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Diaphragmatic eventration, ... |
ORPHA:66634 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Parc Syndrome |
|
Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... |
ORPHA:137675 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, Elevated hepatic tra... |
OMIM:235200 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated car... |
OMIM:610198 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Bive... |
OMIM:261740 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect |
ORPHA:75389 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Polymyositis |
|
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Elevated aldola... |
ORPHA:732 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, Flexion contracture, He... |
ORPHA:367 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Bacterial endocarditis, Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atrial arrhyt... |
OMIM:310300 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Congenital diaphragmatic hernia, Atri... |
ORPHA:251071 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia, Conotruncal defect, Atrioventricular canal defect |
ORPHA:40366 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Joint contracture of the hand, Pulmonic sten... |
OMIM:179613 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... |
OMIM:613838 |
| Pseudo-Torch Syndrome 2 |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Elevated hepatic tra... |
OMIM:617397 |
| Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia, Pulmonary a... |
OMIM:208050 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... |
ORPHA:66529 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... |
ORPHA:70591 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy |
ORPHA:369847 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Ventricular septal defect, Bradycardia, Persistent left superior vena cava, Hyper... |
OMIM:618775 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... |
ORPHA:228410 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Periorbital edema, Edema, Achalasia,... |
ORPHA:3386 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Tetralogy o... |
ORPHA:163956 |
| Atrial Standstill 2 |
|
Atrial arrhythmia, Stroke, Atrial standstill, Palpitations, Absent P wave, Vascular dilatation, A... |
OMIM:615745 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... |
ORPHA:363705 |
| Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Hydrops fetalis, Recurrent lower res... |
OMIM:253250 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertrichosis, Anterior c... |
OMIM:117850 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
| X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Aortic root aneurysm |
ORPHA:96201 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... |
ORPHA:34217 |
| Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy |
OMIM:300376 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompaction, Left... |
OMIM:619167 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... |
OMIM:620067 |
| Familial Dyskinesia And Facial Myokymia |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
ORPHA:324588 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block |
OMIM:192605 |
| Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Macroglossia, Atrioventricular canal defect,... |
OMIM:190685 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... |
ORPHA:542306 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| De Barsy Syndrome |
|
Prominent veins on trunk, Cutis laxa, Recurrent sinopulmonary infections, Excessive wrinkled skin... |
ORPHA:2962 |
| Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Flexion contracture of ... |
ORPHA:2712 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... |
OMIM:618280 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:264480 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnio... |
ORPHA:163596 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Cardiom... |
OMIM:609286 |
| Familial Cutaneous Collagenoma |
|
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure |
ORPHA:53296 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
| Emanuel Syndrome |
|
Multiple joint contractures, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmati... |
ORPHA:96170 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
OMIM:600001 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small thenar eminence, Camptodactyly, Mitral valve prolapse, Small... |
OMIM:211960 |
| Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure |
ORPHA:132 |
| Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation |
ORPHA:499 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Cherry red spot of the macula,... |
OMIM:230500 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Ventricular septal defect, Second degree atrioventricular block, Ventric... |
ORPHA:369929 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Stroke, Hepatic failure, Elevated hepatic transaminase, Dilated... |
OMIM:611126 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Patent ductus arteriosus, Coarctation of aorta |
OMIM:617260 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Muscular ventricular septal defect, Cholestasis, Ventricular septal defect, Double outlet right v... |
OMIM:619503 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... |
ORPHA:1055 |
| Ogden Syndrome |
|
Torticollis, Arrhythmia, Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis |
ORPHA:276432 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Sparse body hair, Abnormal eyelash morphology, Melanocyt... |
ORPHA:1008 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Refsum Disease, Classic |
|
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
| Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
| Neuroocular Syndrome |
|
Blue irides, Short uvula, Microcornea, Hypoplasia of the fovea, Downslanted palpebral fissures, L... |
OMIM:619539 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Microcornea, De... |
OMIM:300166 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
| Faciocardiorenal Syndrome |
|
Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Muscular dystrophy, Retinal deta... |
OMIM:614643 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... |
ORPHA:324410 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... |
OMIM:614876 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse, ... |
OMIM:616166 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... |
ORPHA:500533 |
| Morquio Syndrome C |
|
Corneal opacity, Platyspondyly |
OMIM:252300 |
| Geleophysic Dysplasia 1 |
|
Mitral stenosis, Aortic valve stenosis, Joint contracture of the hand, Tricuspid stenosis, Campto... |
OMIM:231050 |
| Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal defect |
OMIM:618804 |
| African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
| Woolly Hair |
|
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... |
ORPHA:170 |
| Noonan Syndrome 3 |
|
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... |
OMIM:609942 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonary artery aneurysm, Ascending aortic dissecti... |
OMIM:609192 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Hypertension, Congestive heart failure |
OMIM:614473 |
| Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... |
OMIM:310200 |
| Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
| Mitral Valve Prolapse 1 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:157700 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Refsum Disease |
|
Splenomegaly, Dry skin, Heart block, Skeletal muscle atrophy, Cardiomyopathy |
ORPHA:773 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hy... |
OMIM:611812 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Arrhythmia, Mitral valve prolapse, Thin skin, Gastrointestinal hemorrhage, Skeletal muscl... |
ORPHA:230839 |
| Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, Retinal detachment, C... |
ORPHA:2714 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... |
ORPHA:1349 |
| Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Peripheral pulmonary artery stenosis, Cutis laxa, Mitral regurgitation, Redundant... |
ORPHA:90348 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... |
OMIM:126320 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypert... |
OMIM:617021 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... |
OMIM:178600 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
| Mucopolysaccharidosis, Type Vi |
|
Mitral stenosis, Tricuspid regurgitation, Flexion contracture, Macroglossia, Mitral regurgitation... |
OMIM:253200 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Peritonitis, Hypotension, Shock, Edema, Ascites, Bradycardia |
ORPHA:391673 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, ... |
ORPHA:79083 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Mitral regurgitation, Tetralogy of Fallot, Ventricular septal defect, Mitra... |
OMIM:612561 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin |
OMIM:302000 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... |
OMIM:613795 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Arrhythmia, Chole... |
OMIM:609015 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal mu... |
ORPHA:2348 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure |
OMIM:606703 |
| Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... |
ORPHA:206569 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Alg9-Cdg |
|
Torticollis, Hypoplasia of the musculature, Hepatomegaly, Periportal fibrosis, Atrial septal defe... |
ORPHA:79328 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Acute hepatic failure, EMG: myopathic abnormalities, Sudden cardiac death,... |
ORPHA:99901 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
| Hamamy Syndrome |
|
Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septal defect, Mitral regur... |
OMIM:611174 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Fingernail dysplasia, Abnor... |
ORPHA:2325 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... |
OMIM:253300 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... |
ORPHA:275766 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, EMG: myopathic abnormalities, Rimmed vac... |
ORPHA:52430 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Weakness of facial musculature, Abnormal atrioventricular conduction, Limb muscle weakness, Skele... |
ORPHA:329336 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Death in childhood, Rod-cone dystrophy |
OMIM:609055 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Mitral regurgitation, Ventricular septal defect, Aortic reg... |
OMIM:123700 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
| Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Spontaneous pneumothorax, Arterial tortuosity, M... |
OMIM:610168 |
| Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
| Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Death in childhood, Uveal ectropion, Retinal detachment,... |
OMIM:609049 |
| Liver Disease, Severe Congenital |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic heart murmur, Pancreat... |
OMIM:619991 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
| Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Hypert... |
ORPHA:324 |
| Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy |
OMIM:530000 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Stickler Syndrome Type 2 |
|
Corneal opacity, Cleft palate, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor... |
ORPHA:90654 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... |
OMIM:115195 |
| Grange Syndrome |
|
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... |
ORPHA:79094 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Fabry Disease |
|
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... |
OMIM:301500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Decreased circulating IgA level, Hirsutism, Decreased circulating IgG level, Decreased ... |
OMIM:300861 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate, Leukocoria |
OMIM:257910 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Joint swelling, Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Splenomegaly, Cirrhosis,... |
ORPHA:465508 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Alopecia universalis, Corneal opacity, Sparse hair, Subungual hyperkeratosis, Opa... |
OMIM:614594 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Foot dorsiflexor weakness |
OMIM:617087 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... |
ORPHA:444013 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
| Flynn-Aird Syndrome |
|
Kyphoscoliosis, Alopecia of scalp, Cataract, Alopecia |
OMIM:136300 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
| Optic Atrophy 8 |
|
Mitral valve prolapse, Mitral regurgitation |
OMIM:616648 |
| Clouston Syndrome |
|
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Slow-growing hair, Abse... |
OMIM:129500 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Hirsutism, Cataract |
ORPHA:85288 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Pulmo... |
ORPHA:2326 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
ORPHA:2255 |
| Neonatal Marfan Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Flexion... |
ORPHA:284979 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, Arrhythmia, Cholesta... |
ORPHA:746 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Bundle branch block, Webbe... |
ORPHA:500 |
| Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Pulmonary hypoplasia, Complete atrioventricular canal defect, Atrial s... |
OMIM:617063 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Abnormal left ventricular function, Hepatomegaly, Pulmonic stenosi... |
OMIM:301056 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Abnormal carotid artery morphology, Myocarditis, Myocardial infarctio... |
ORPHA:3342 |
| Neurofibromatosis Type 2 |
|
Remnants of the hyaloid vascular system, Neuroma, Bilateral vestibular schwannoma, Facial palsy, ... |
ORPHA:637 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
| Primary Lipodystrophy |
|
Angina pectoris, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Type IV athe... |
ORPHA:90970 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Alopecia, M... |
ORPHA:79397 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Elevated circulating alkaline phosphatase concentration, Mitral regurgitation, M... |
OMIM:606631 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Tricuspid regurgitation, Left ventricular hypertroph... |
OMIM:612289 |
| Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... |
ORPHA:1120 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Pa... |
ORPHA:96167 |
| Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Pigmentary retinopathy, Long eyelashes, Long eyebrows, Central heterochromia |
OMIM:275400 |
| Marie Unna Hereditary Hypotrichosis |
|
