| Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Ciliary dy... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Left Isomerism, Atrioventricular canal defect, Un... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Situs inversus totalis, Dextrocardia, Recurrent sinusit... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 23 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615451 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... |
OMIM:615067 |
| Ciliary Dyskinesia, Primary, 27 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615504 |
| Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Chronic bronchitis, Heterotaxy, Wheezing, Situs inversus totalis, Cough, Ciliary ... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 28 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615505 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... |
OMIM:614874 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 26 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Situs inversus totalis, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis... |
OMIM:300991 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:614017 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Bronchiect... |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 17 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... |
OMIM:614679 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Ciliary Dyskinesia, Primary, 9 |
|
Cough, Situs inversus totalis, Chronic rhinitis, Recurrent sinusitis, Chronic sinusitis, Ciliary ... |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Recurrent lower respiratory tract inf... |
OMIM:618254 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Cilia... |
OMIM:612650 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Rig... |
OMIM:617577 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Situs inversus totalis, Dextrocardia, Abdominal situs inversus, Chronic sinusitis, Decreas... |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Situs inversus ... |
OMIM:608647 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, High palate, Situs inversus totalis, Upper airway obstruction, Microglossia... |
OMIM:612776 |
| Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Wheezing, Situs inversus totalis, Cough, Chronic sinusitis, Recurrent pneumon... |
OMIM:613808 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Ciliary Dyskinesia, Primary, 38 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... |
OMIM:618063 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis |
OMIM:620032 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Duodenal atresia, Primum atrial septal defect, Intestinal ... |
OMIM:619608 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... |
ORPHA:244 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Ciliary Dyskinesia, Primary, 35 |
|
Cough, Situs inversus totalis, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent res... |
OMIM:617092 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... |
OMIM:615382 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Gastroesophageal reflux, Atrial septal defect, Stroke, Ventricular septal d... |
OMIM:249270 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia, Restrictive ventila... |
OMIM:613686 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... |
ORPHA:1666 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fi... |
OMIM:208540 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Polysple... |
OMIM:306955 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinus... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... |
OMIM:616481 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... |
OMIM:609008 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Hepatomegaly, Atrial septal defect, Gastroesophageal reflux |
OMIM:619881 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... |
ORPHA:185 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Heterotaxy, Pulmonic stenosi... |
ORPHA:3426 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato... |
OMIM:612649 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Ciliary Dyskinesia, Primary, 21 |
|
Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal respiratory ... |
OMIM:615294 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... |
ORPHA:210122 |
| Catel-Manzke Syndrome |
|
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:616145 |
| Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Respiratory insufficiency, Dextrocardia, Duodenal stenosis,... |
ORPHA:1759 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent... |
OMIM:106700 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections |
OMIM:615872 |
| Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis |
OMIM:615434 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Cleft palate, Tracheomalacia, Situs inversus... |
OMIM:202650 |
| Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... |
OMIM:616726 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ... |
OMIM:617091 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... |
OMIM:267010 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Cleft palate, Tachypnea, Pneumothorax, Dextrocardia... |
ORPHA:2257 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Respiratory insufficiency, Ventricular septal defect, Respiratory failure, ... |
OMIM:253300 |
| Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Pulmonary hypopl... |
OMIM:617022 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... |
OMIM:619123 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... |
OMIM:601186 |
| Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Abnormal ciliary motility, Recurrent respirat... |
OMIM:610852 |
| Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia, Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Gastroesophageal reflux, Coarc... |
OMIM:600987 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Elevated circulating as... |
OMIM:614034 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia, Recurrent respiratory infections |
OMIM:312612 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... |
OMIM:265380 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Cleft palate, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Situs inv... |
ORPHA:1908 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
| Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Immoti... |
OMIM:242680 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Microglossia, Respiratory distress |
ORPHA:990 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Dextrocardia, Anal atresia, Patent ductus arteriosus |
ORPHA:2863 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Cleft palate |
OMIM:221950 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Hepatic cysts, Situs inversus totalis, Dextrocardia, Jaundice |
OMIM:613095 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Apn... |
ORPHA:99125 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular s... |
OMIM:617877 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
| Mungan Syndrome |
|
Barrett esophagus, Pulmonic stenosis, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstructio... |
OMIM:611376 |
| Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Stroke-like episode, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... |
ORPHA:980 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia |
OMIM:215520 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Elevated pulmonary artery pressure, Abnormal... |
ORPHA:99094 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... |
OMIM:314390 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cholestasis, Patent ductus arteriosus, Protein-losing enteropathy, Anemia, Thromboc... |
OMIM:608104 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Splenogonadal fusion, Biliary tract abn... |
OMIM:156810 |
| Mosaic Trisomy 9 |
|
Atrial septal defect, Abnormal liver lobulation, Endocardial fibroelastosis, Ventricular septal d... |
ORPHA:99776 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Situs inversus totalis, Abnormal pattern of respiration, Aganglionic m... |
ORPHA:475 |
| Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre... |
OMIM:618699 |
| Sandestig-Stefanova Syndrome |
|
High palate, Respiratory failure, Perimembranous ventricular septal defect, Muscular ventricular ... |
OMIM:618804 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system physiology, Immotile... |
OMIM:242670 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... |
ORPHA:2326 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Asthma, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Pyloric stenosis |
OMIM:614262 |
| Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Recurrent upper respiratory tract inf... |
ORPHA:95430 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonary artery stenosis, ... |
OMIM:600001 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Accessory spleen, Hepatopulmonary... |
OMIM:618280 |
| Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus |
OMIM:147770 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Anal atresia, Atrial septal defect, Velopharyngeal insufficiency, Muscular ventricular septal def... |
ORPHA:363444 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia, Recurrent respiratory infections |
ORPHA:1882 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Hepatomegaly, Jaundice, Glossoptosis |
OMIM:614876 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... |
OMIM:601612 |
| Ellis Van Creveld Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Situs inversus to... |
ORPHA:289 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Respiratory insufficiency due to muscle weakness |
OMIM:616816 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Pagod Syndrome |
|
Hypoplastic left heart, Abnormality of the spleen, Situs inversus totalis, Pulmonary artery hypop... |
ORPHA:991 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia |
ORPHA:391646 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... |
OMIM:614300 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... |
ORPHA:3405 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Respiratory insufficiency, Tetralogy of Fallot, Ventricular septal defect, Abnormal... |
ORPHA:1166 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Thrombocytopenia, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:617021 |
| Renpenning Syndrome |
|
Anal atresia, High, narrow palate, Cleft palate, Heterotaxy |
ORPHA:3242 |
| Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Double aortic arch, Tetralogy of Fallot, Pulmonary arter... |
OMIM:192430 |
| Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
| Transaldolase Deficiency |
|
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Coarctation of aorta, Biventricular hypertro... |
ORPHA:101028 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Tr... |
ORPHA:1505 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... |
ORPHA:1667 |
| Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... |
ORPHA:1727 |
| Chromosome 9P Deletion Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Ventricular septal defect,... |
OMIM:158170 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Atrial septal defect, Hepatic failure, Elevated he... |
OMIM:614886 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Feingold Syndrome 1 |
|
Annular pancreas, Accessory spleen, Patent ductus arteriosus, Polysplenia, Asplenia |
OMIM:164280 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Respiratory insufficiency, Respiratory failure, Truncus arteriosus |
OMIM:228940 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Sleep apnea, Atrial septal defect, Hiatus hernia, Gastroesophageal reflux, Persistence of hemoglo... |
OMIM:619769 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal d... |
OMIM:264480 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Pulmonary veno... |
ORPHA:3092 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Macrocytic anemia, Ventricular septal defect, D... |
OMIM:614294 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cleft palate, Glossoptosis |
ORPHA:1388 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Tracheomalacia, Persistenc... |
OMIM:612561 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Atrial septal defect, Cleft palate, Ventricular septal defect, Histiocytoid cardiom... |
OMIM:309801 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, V... |
OMIM:612946 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Velopharyngeal insufficiency |
ORPHA:199302 |
| Marden-Walker Syndrome |
|
Cleft palate, Abnormal anatomic location of the heart, Bifid uvula, Ventricular septal defect, De... |
ORPHA:2461 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Dextrocardia, Coarctation of aorta, Atrioventricular canal defect |
OMIM:618929 |
| Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Malabsorption, Anal atresia, Exocrine pancreatic insufficienc... |
ORPHA:2315 |
| Halperin-Birk Syndrome |
|
High palate, Pseudobulbar paralysis, Gastroesophageal reflux, Aspiration, Perimembranous ventricu... |
OMIM:618651 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Lymphopenia, Aspiration pneumonia, Intracranial hemorrhage, Leukopenia, ... |
OMIM:617053 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Meckel Syndrome |
|
Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Situs inversus totalis, Cysti... |
ORPHA:564 |
| Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Splenomegaly, Accessory spleen, Coarctation of aorta, Malform... |
OMIM:249000 |
| Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:3033 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Bronchitis, Patent ductus arteriosus, Patent fora... |
OMIM:601005 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, High, narrow palate |
ORPHA:2515 |
| Marden-Walker Syndrome |
|
High palate, High, narrow palate, Cleft palate, Pyloric stenosis, Dextrocardia, Pulmonary hypopla... |
OMIM:248700 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Hepatic fibrosis, Esophageal varix, Portal hypertension,... |
OMIM:616589 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... |
OMIM:269200 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Cleft palate, Abnormal aortic valve morphology, Py... |
ORPHA:261197 |
| Apert Syndrome |
|
Ectopic anus, Narrow palate, Cleft palate, Bifid uvula, Ventricular septal defect, Pyloric stenos... |
OMIM:101200 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Tracheoesop... |
ORPHA:141127 |
| Mass Syndrome |
|
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect, Duodenal atresia, Interrupted inferior vena cava with azygous continua... |
OMIM:618846 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, High palate |
ORPHA:261120 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Cleft palate, Abnormal lung lobation, Ventricular septal defect, Abnormal ao... |
ORPHA:2516 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Hepatomegaly, Pulmonic stenosis, Leukopenia, Pulmonary artery atre... |
OMIM:301056 |
| Colonic Atresia |
|
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... |
ORPHA:1198 |
| Phaver Syndrome |
|
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia |
ORPHA:2876 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Atrioventricular canal defect, Cholestasis, Ventricular septal defect, Cor triatria... |
OMIM:619534 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Apnea, Hypertrophic cardiomyopathy, Respiratory failure |
OMIM:616277 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Anal atresia, Atrial septal defect |
ORPHA:3469 |
| Alg3-Cdg |
|
Decreased liver function, Coarctation of the descending aortic arch, Pulmonary hypoplasia, Cardio... |
ORPHA:79321 |
| Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Intestinal malrotation, Pulmonary artery atresia, Ventricular septal defect... |
ORPHA:401935 |
| Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot,... |
ORPHA:2209 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia |
OMIM:135580 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Abnormal lung morphology, Venous insuffic... |
ORPHA:33276 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Joubert Syndrome With Ocular Defect |
|
Apnea, Cleft palate, Dextrocardia, Abnormal pattern of respiration, Aganglionic megacolon |
ORPHA:220493 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Noonan Syndrome 12 |
|
Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Anteriorly placed anus, Thrombocytop... |
OMIM:618624 |
| Proteus Syndrome |
|
Lymphangioma, Venous malformation, Splenomegaly |
OMIM:176920 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus |
OMIM:601355 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Gastroesophageal reflux, Macroglossia, Reduced alpha/beta synthesis ratio, Hypochromic microcytic... |
OMIM:301040 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
| Transaldolase Deficiency |
|
Asthma, Atrial septal defect, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepa... |
OMIM:606003 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cleft palate, Recurrent viral upper respiratory ... |
OMIM:616898 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Chronic active hepatitis, Asplenia |
OMIM:240300 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Ectopic anus, Hypoplastic left heart, Cleft palate |
ORPHA:2476 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology |
ORPHA:96092 |
| Ogden Syndrome |
|
High palate, Apnea, Ventricular septal defect, Pulmonary hypoplasia, Jaundice, Cardiomegaly, Peri... |
OMIM:300855 |
| Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium |
OMIM:615524 |
| Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Coarctation of aorta, Ventricular septal defect, Esophageal atresia, A... |
ORPHA:1923 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Partial di... |
ORPHA:2847 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Patent ductus arteri... |
ORPHA:290 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Pulmonic st... |
ORPHA:2255 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, High palate, Cleft palate, Ventricular septal defect, Leukemia, High, narro... |
OMIM:180849 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Atrial septal defect, Hypoxemia, C... |
OMIM:610978 |
| Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Peripheral arteriovenous fistula, Hepatomegaly, Respiratory insufficiency, ... |
ORPHA:90308 |
| 15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... |
OMIM:130090 |
| Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
| Distal Trisomy 5Q |
|
Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
| Kawasaki Disease |
|
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... |
ORPHA:2331 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Pulmonic s... |
OMIM:610205 |
| Czeizel-Losonci Syndrome |
|
High palate, Dextrocardia, Tracheoesophageal fistula, Pulmonary hypoplasia |
ORPHA:2437 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
| Diabetic Embryopathy |
|
Tetralogy of Fallot, Abnormality of the pancreas, Ventricular septal defect, Abnormality of the p... |
ORPHA:1926 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:619189 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Le... |
OMIM:243150 |
| Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot |
OMIM:613630 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis |
OMIM:618021 |
| Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Myeloprolifer... |
OMIM:190685 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy o... |
ORPHA:163956 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Stroke, Anomalous branches of internal carotid artery, Ventricular septal d... |
ORPHA:363705 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Coarctat... |
ORPHA:508498 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Ectopic anus, Cleft palate |
ORPHA:94066 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:2184 |
| Renpenning Syndrome 1 |
|
High palate, Anal atresia, Atrial septal defect, Cleft palate, Tetralogy of Fallot, Ventricular s... |
OMIM:309500 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Atrial septal defect, Stroke, Ventricular septal defect, Thrombocytopenia |
ORPHA:49827 |
| Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
| Prune Belly Syndrome |
|
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Tetralogy of Fall... |
ORPHA:2970 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
| Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
| Fryns Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Pulmona... |
ORPHA:2059 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus,... |
OMIM:618223 |
| Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Apnea, Anemia, Hypertrophic cardiomyopathy |
ORPHA:255241 |
| Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
| Knobloch Syndrome |
|
Pyloric stenosis, Dextrocardia, Lymphangioma, Patent ductus arteriosus |
ORPHA:1571 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy |
OMIM:614676 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Abnormal aortic morphology |
ORPHA:3222 |
| Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, T... |
ORPHA:904 |
| Charge Syndrome |
|
Double outlet right ventricle, Anal atresia, Duodenal atresia, Secundum atrial septal defect, Atr... |
OMIM:214800 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Cholelithiasis, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, B lym... |
ORPHA:83617 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
| Johanson-Blizzard Syndrome |
|
Anal atresia, Malabsorption, Exocrine pancreatic insufficiency, Atrial septal defect, Cholestasis... |
OMIM:243800 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Mitral valve prolapse, Hepatic cysts |
OMIM:173900 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
| Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia, Patent ductus arteriosus, Transposition of the great arteries, Ectopia cordis |
OMIM:313850 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Cat Eye Syndrome |
|
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... |
OMIM:115470 |
| Keutel Syndrome |
|
Ventricular septal defect, Recurrent sinusitis, Pulmonary artery stenosis, Pulmonary arterial hyp... |
ORPHA:85202 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Gastroesophageal reflux |
ORPHA:228399 |
| Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompaction cardiomyopathy... |
OMIM:616651 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... |
OMIM:619910 |
| 20Q13.33 Microdeletion Syndrome |
|
Hypoplastic aortic arch, Abnormal cardiac ventricle morphology, Atrial septal defect, Dilation of... |
ORPHA:261311 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... |
ORPHA:91387 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613458 |
| Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... |
ORPHA:1596 |
| Distal Tetrasomy 15Q |
|
Atrial septal defect, Pulmonary hypoplasia, Patent ductus arteriosus, Hypoplastic aortic arch, Ab... |
ORPHA:314588 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Splenomegaly, Anemia, ... |
ORPHA:699 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricular septal defect,... |
OMIM:615355 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema, Atrial septal defect, Anemia, Varicose veins, Pericardial ... |
OMIM:617300 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Gastroesophageal reflux, Respiratory insufficiency, Ventricular se... |
OMIM:619909 |
| Digeorge Syndrome |
|
Cholelithiasis, Splenomegaly, Hypoplasia of the thymus, Tetralogy of Fallot, Thrombocytopenia, Ve... |
OMIM:188400 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Hypoplasia of lymphatic vessels, Varicose veins, Venous insufficiency, Abnormal lymphatic vessel ... |
ORPHA:568051 |
| Esophageal Atresia |
|
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pyloric... |
ORPHA:1199 |
| Tyshchenko Syndrome |
|
High palate, Sleep apnea, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate,... |
OMIM:615102 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Calcification of the aor... |
OMIM:231005 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Right atrial enlargement, Pulmonary edema, Myofiber disarray, Stroke, Muscu... |
OMIM:115197 |
| Loeys-Dietz Syndrome 6 |
|
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... |
OMIM:619656 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Atrial septal defect, Gastroesophageal reflux, Atrioventricular canal defect, Tetra... |
OMIM:600123 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Hyperventilation, Normochromic anemi... |
OMIM:618775 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... |
ORPHA:1600 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial sept... |
OMIM:608406 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Aganglionic megacolon |
OMIM:613870 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, High palate |
OMIM:314320 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
| 3C Syndrome |
|
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... |
ORPHA:7 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... |
OMIM:615550 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, High palate |
ORPHA:3369 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Tracheobronchomalacia, Patent ductus arteriosus... |
ORPHA:500159 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Exocrine pancreatic insufficiency, Ventricular septal defect, Patent ductus arteri... |
ORPHA:452 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Intestinal malrotation, Coarctation of aorta, Ve... |
OMIM:617602 |
| Emanuel Syndrome |
|
High palate, Anal atresia, Aortic valve stenosis, Atrial septal defect, Cleft palate, Gastroesoph... |
OMIM:609029 |
| Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Tracheoesophageal fistula, Aplastic anemia, Coarctation of aorta, Abnormal lung... |
OMIM:300514 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
| Thymic Carcinoma |
|
Abnormal vena cava morphology, Mediastinal lymphadenopathy, Neoplasm of the thymus |
ORPHA:99868 |
| Pseudoaminopterin Syndrome |
|
Patent foramen ovale, Asplenia |
ORPHA:221120 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
| Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
| Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Malrotation of small bowel, Pulmonary hypoplasia |
ORPHA:139466 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Hypoplastic left heart, Abnormal aortic morphology |
ORPHA:2001 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure |
OMIM:607598 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Lymphangioma, Venous insufficiency |
ORPHA:137608 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Anal atresia, Ectopic anus, Cleft palate |
ORPHA:2345 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Abdominal aortic aneurysm, Aortic arch aneurysm, Aortic root aneurysm, Cor... |
OMIM:617168 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Tetral... |
ORPHA:251071 |
| Kagami-Ogata Syndrome |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular septal defect, P... |
OMIM:608149 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Pulmonary hypoplasia |
OMIM:207620 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus, Pyloric stenosis |
OMIM:218350 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent duc... |
OMIM:618142 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Inflammation of the large intestine,... |
OMIM:614576 |
| Carpenter Syndrome 2 |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Situs inversus totalis, De... |
OMIM:614976 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate |
OMIM:214300 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Ventricular septal defe... |
OMIM:619472 |
| Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis |
ORPHA:3449 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Arteria lusoria, Mitral valve prola... |
OMIM:212093 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Ve... |
OMIM:300166 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
| Mcdonough Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Furrow... |
OMIM:248950 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Tracheobronchomalacia, Patent ductus arteriosus... |
OMIM:617751 |
| Chops Syndrome |
|
Sleep apnea, Anomalous pulmonary venous return, Gastroesophageal reflux, High, narrow palate, Tra... |
OMIM:616368 |
| Pentalogy Of Cantrell |
|
Atrial septal defect, Abnormal pericardium morphology, Tetralogy of Fallot, Ventricular septal de... |
ORPHA:1335 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Ventri... |
OMIM:619343 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Abnormal pulmonary valve morphology, Cholelithiasis, Atrial septal defect, Spl... |
ORPHA:567 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Leukemia |
OMIM:602501 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Subdural hemorrhage, Cerebral hemorrhage, Dextrocardia, Aortic aneurysm, A... |
ORPHA:536545 |
| Transketolase Deficiency |
|
Atrial septal defect, Hepatomegaly, Abnormal coronary artery course, Ventricular septal defect, P... |
ORPHA:488618 |
| Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
| De Barsy Syndrome |
|
Prominent veins on trunk, Recurrent sinopulmonary infections, Ventricular septal defect, Patent d... |
ORPHA:2962 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, High palate, Patent ductus arteriosus, Patent foramen ovale |
OMIM:613457 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Cervical lymp... |
OMIM:602782 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Cleft palate, Intestinal malrotation, Ventricular ... |
ORPHA:457193 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Ventricular septal defect, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
| Emanuel Syndrome |
|
High palate, Anal atresia, Ectopic anus, Aortic valve stenosis, Atrial septal defect, Cleft palat... |
ORPHA:96170 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Protruding tongue, Atrial septal defect |
OMIM:300963 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Respiratory insufficiency, Anteriorly placed anus |
ORPHA:1488 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Bifid uvula, C... |
OMIM:614921 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Pulmonary hypoplasia, Respiratory failure, Respiratory distress |
OMIM:617895 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, High palate |
OMIM:619995 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Coarctation of aor... |
OMIM:617506 |
| Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... |
OMIM:249420 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatoblastoma, Gastritis, Peripheral pulmo... |
ORPHA:84064 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Abnormal pulmonary valve morphology, Bicuspid aortic valve, Aortic valve stenosis, Pulmonic steno... |
ORPHA:261537 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valve pr... |
OMIM:175050 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Atrial septal defect, Episodic tachypnea, Hepatomegaly, Tachypnea, Ventricu... |
ORPHA:26793 |
| Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Varicose ... |
OMIM:153400 |
| Noonan Syndrome 10 |
|
Mitral stenosis, High palate, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrop... |
OMIM:616564 |
| Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Hypoplastic left heart, Ventricular septal defect, Patent ductus a... |
OMIM:301043 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
| Tetraamelia Syndrome 1 |
|
Pulmonary hypoplasia, Asplenia, Peripheral pulmonary vessel aplasia |
OMIM:273395 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, High palate, Cleft palate |
OMIM:609654 |
| Tetrasomy 9P |
|
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Cleft palate, ... |
ORPHA:3310 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Recurrent lower respiratory tr... |
OMIM:612541 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Cleft palate, Right ventricular hypertrophy, Ventricular septal defect, Pat... |
OMIM:614261 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect, Cleft palate |
ORPHA:398156 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Cleft palate, Tetralogy of Fall... |
OMIM:612562 |
| Braddock-Carey Syndrome 1 |
|
Cleft palate, Ventricular septal defect, Anteriorly placed anus, Aortic valve prolapse, Thrombocy... |
OMIM:619980 |
| Seckel Syndrome 9 |
|
Asthma, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Recurrent r... |
OMIM:616777 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pulmonary valve morphology, Bicuspid aortic valve, Aortic valve stenosis, Pulmonic steno... |
ORPHA:261552 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, High palate, Tetralogy of Fallot |
ORPHA:3306 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary interstitial morphology, Mac... |
ORPHA:227990 |
| Mowat-Wilson Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Aortic valve stenosis, Pulmonic stenos... |
ORPHA:2152 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:2519 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Intestinal malrotation, Tetralogy of Fallot |
ORPHA:2328 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Cholestasis, Ventricular septal defect, Hepatic fibrosis |
OMIM:615630 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of mesentery morphology |
ORPHA:2256 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... |
ORPHA:391641 |
| Hardikar Syndrome |
|
Hepatomegaly, Cholestasis, Ventricular septal defect, Esophageal varix, Prolonged neonatal jaundi... |
OMIM:301068 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Biventricular hypertrophy, Patent forame... |
OMIM:615474 |
| Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, High palate, Cleft palate, Obstructive sleep apnea |
OMIM:617164 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Coarctation of aorta, Elevated hepatic transaminase, Interrupted aortic arch, Paten... |
ORPHA:17 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Single coronary artery origin, Abnormality of the gastrointestinal tract, C... |
ORPHA:1708 |
| Pelger-Huet Anomaly |
|
Median cleft palate, Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormalit... |
OMIM:169400 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Right aortic arch |
ORPHA:513456 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Conotruncal defect, Atrioventricular canal defect |
ORPHA:40366 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect |
ORPHA:75389 |
| Ring Chromosome 7 Syndrome |
|
Situs inversus totalis, Median cleft palate, Bifid uvula, Cleft palate |
ORPHA:1449 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Absent gallbladder, Patent ductus arteriosus, In... |
OMIM:300712 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage |
ORPHA:624 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Interrupted aortic arch, A... |
ORPHA:2396 |
| 3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Ventricular septal de... |
ORPHA:435638 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:329224 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Aortic valve atresia, Double outlet right ventricle |
OMIM:619895 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Bifid uvula, Tetralogy of Fallot, Coarctation of aorta, Ventricular septal ... |
OMIM:617159 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Pulmonary lymphangiectasia, Ventricular se... |
OMIM:235255 |
| Erythrocytosis, Familial, 2 |
|
Stroke, Increased hematocrit, Cerebral hemorrhage, Increased red blood cell mass, Increased hemog... |
OMIM:263400 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neo... |
ORPHA:97289 |
| Milroy Disease |
|
Abnormal venous morphology, Varicose veins |
ORPHA:79452 |
| Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Macroglossia, Cherry red spot of the macula, Aspiration pneumonia, Splen... |
ORPHA:354 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Intracranial hemorrhage, Thrombocytopenia, Ventricular septal defect, Absen... |
ORPHA:163979 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
| Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618870 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sleep apnea, Duodenal atresia, Atrial septal defect, Coarctation of aorta, Abnormal lung lobation... |
OMIM:614114 |
| Autoimmune Polyendocrinopathy Type 3 |
|
