| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... |
OMIM:618254 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... |
OMIM:614779 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601127 |
| Ciliary Dyskinesia, Primary, 3 |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent sinusitis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis |
OMIM:620032 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:300991 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis |
OMIM:615451 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... |
OMIM:617205 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Ciliary Dyskinesia, Primary, 17 |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia |
OMIM:614679 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Left Isomerism, Congeni... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 7 |
|
Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Dextrocardia |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... |
OMIM:615504 |
| Right Atrial Isomerism |
|
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... |
OMIM:208530 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... |
OMIM:617912 |
| Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 52 |
|
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... |
OMIM:620570 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... |
OMIM:616749 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema, Elevated pulmonary artery pressure |
OMIM:178400 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... |
OMIM:606217 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... |
OMIM:615482 |
| Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
| Ciliary Dyskinesia, Primary, 13 |
|
Recurrent sinusitis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis |
OMIM:613193 |
| Ciliary Dyskinesia, Primary, 24 |
|
Bronchiectasis, Situs inversus totalis, Recurrent sinusitis |
OMIM:615481 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... |
OMIM:605376 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul... |
OMIM:616037 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... |
OMIM:613854 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... |
OMIM:619702 |
| Ciliary Dyskinesia, Primary, 35 |
|
Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus |
OMIM:617092 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:620197 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ciliary Dyskinesia, Primary, 9 |
|
Bronchiectasis, Situs inversus totalis, Pneumonia, Recurrent sinusitis |
OMIM:612444 |
| Ciliary Dyskinesia, Primary, 51 |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:620438 |
| Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
| Conotruncal Heart Malformations |
|
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... |
OMIM:217095 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Situs inversus totalis, Dextrocardia |
OMIM:618063 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... |
OMIM:614429 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... |
ORPHA:244 |
| Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Situs inversus totalis |
OMIM:614017 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Atelectasis, Dextrocardia, Bronchiectasis, Aortic valve stenosis, Pulmona... |
OMIM:615067 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... |
ORPHA:1209 |
| Ciliary Dyskinesia, Primary, 32 |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Ch... |
OMIM:614935 |
| Ciliary Dyskinesia, Primary, 5 |
|
Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent respi... |
OMIM:608647 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic valve stenosis, Pa... |
OMIM:615382 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... |
OMIM:615444 |
| Scimitar Syndrome |
|
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte... |
ORPHA:185 |
| Ciliary Dyskinesia, Primary, 15 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... |
OMIM:613808 |
| Ciliary Dyskinesia, Primary, 18 |
|
Abdominal situs ambiguus, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory in... |
OMIM:613807 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
| Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia |
OMIM:606763 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... |
OMIM:615779 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Ciliary Dyskinesia, Primary, 12 |
|
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections |
OMIM:612650 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Meacham Syndrome |
|
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se... |
ORPHA:3097 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... |
OMIM:231060 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... |
OMIM:109730 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... |
OMIM:620294 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
| Ciliary Dyskinesia, Primary, 53 |
|
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... |
OMIM:620642 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Partial Atrioventricular Septal Defect |
|
Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme... |
ORPHA:1330 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Bronchiectasis, Situs inversus totalis |
OMIM:615434 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema, Pulmonary arterial hypertension |
OMIM:152900 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Bic... |
OMIM:618845 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Situs inversus totalis, Truncus arteriosus, Hypertrophic cardiomyopathy, ... |
OMIM:615415 |
| Dextrocardia |
|
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Congenital malformation of the grea... |
ORPHA:1666 |
| Preeclampsia/Eclampsia 1 |
|
Edema, Hypertension |
OMIM:189800 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... |
OMIM:613751 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect |
OMIM:249270 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
| Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Aortic root aneurysm, Pulmonic stenosis, Mitral valve prolapse, Persisten... |
OMIM:609008 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... |
OMIM:618780 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Abnormal heart morpholo... |
ORPHA:99886 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Ventric... |
OMIM:619657 |
| Familial Isolated Dilated Cardiomyopathy |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... |
ORPHA:154 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis |
OMIM:612776 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... |
OMIM:607941 |
| Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia |
OMIM:202650 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Pneumonia |
OMIM:244400 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... |
OMIM:270100 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:618773 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Pulmonary artery atresia, Tetralogy of Fallot |
ORPHA:1908 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia |
OMIM:606176 |
| Double Outlet Right Ventricle |
|
Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta... |
ORPHA:3426 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... |
ORPHA:216694 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Recurrent respiratory infections, Patent foramen ovale, Pulmonary artery ... |
OMIM:618316 |
| Recombinant Chromosome 8 Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... |
OMIM:179613 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Mastocytosis, Cutaneous |
|
Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Aplasia of posterior communicating artery, Vertebral artery... |
OMIM:613686 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis |
OMIM:614833 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c... |
ORPHA:3304 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... |
OMIM:306955 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Ritscher-Schinzel Syndrome 1 |
|
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... |
OMIM:220210 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
| 16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... |
ORPHA:261243 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... |
OMIM:108900 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... |
OMIM:614954 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... |
OMIM:614980 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Aortic valve stenosis, Right ventricular hypertrophy, Patent ductus arter... |
OMIM:267010 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
| Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot |
OMIM:613630 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... |
ORPHA:860 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... |
ORPHA:99050 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis |
ORPHA:990 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr... |
ORPHA:1457 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... |
ORPHA:477817 |
| Ellis Van Creveld Syndrome |
|
Situs inversus totalis, Atrioventricular canal defect, Emphysema, Dextrocardia, Abnormal heart va... |
ORPHA:289 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... |
ORPHA:3384 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Pagod Syndrome |
|
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Pulmonary hypopl... |
ORPHA:991 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia |
OMIM:600649 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... |
ORPHA:99125 |
| Joubert Syndrome |
|
Situs inversus totalis |
ORPHA:475 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Aortic valve stenosis, Pulmonary hypoplasia, Patent ductus arteriosus, At... |
OMIM:208540 |
| Meacham Syndrome |
|
Congenital alveolar dysplasia, Transposition of the great arteries, Partial anomalous pulmonary v... |
OMIM:608978 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:2184 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia |
OMIM:618838 |
| Pericardial And Diaphragmatic Defect |
|
Pulmonary sequestration, Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmona... |
ORPHA:2847 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... |
ORPHA:2326 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... |
OMIM:265300 |
| Aortic Arch Interruption |
|
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... |
ORPHA:2299 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Pulmonary artery atr... |
OMIM:301056 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ... |
OMIM:108800 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus |
OMIM:614886 |
| Mody |
|
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... |
ORPHA:552 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric... |
ORPHA:371428 |
| Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... |
OMIM:604367 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Double outlet right ventr... |
OMIM:616652 |
| Cardiac Diverticulum |
|
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... |
ORPHA:1686 |
| Giant Cell Arteritis |
|
Recurrent pharyngitis, Vasculitis, Double outlet right ventricle with subpulmonary ventricular se... |
ORPHA:397 |
| Maternal Phenylketonuria |
|
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... |
ORPHA:2209 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Isomerism, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Pulm... |
OMIM:314390 |
| Marden-Walker Syndrome |
|
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Abnormal anatomic location of th... |
ORPHA:2461 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal vena cava morphology, Patent foramen ovale, Mitral stenosis, Tetralogy of Fallot, Patent... |
ORPHA:163956 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:1913 |
| Criss-Cross Heart |
|
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... |
ORPHA:1461 |
| Aneurysm Of Sinus Of Valsalva |
|
Edema, Congestive heart failure, Aortic regurgitation, Heart murmur |
ORPHA:1054 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... |
ORPHA:261183 |
| Down Syndrome |
|
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Patent foramen ovale, E... |
OMIM:190685 |
| Absence Of The Pulmonary Artery |
|
Pulmonary edema, Recurrent respiratory infections, Patent foramen ovale, Truncus arteriosus, Abno... |
ORPHA:980 |
| Thoracoabdominal Syndrome |
|
Ectopia cordis, Transposition of the great arteries, Pulmonary hypoplasia, Patent ductus arteriosus |
OMIM:313850 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
| Diabetic Embryopathy |
|
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality... |
ORPHA:1926 |
| Renpenning Syndrome 1 |
|
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot |
OMIM:309500 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... |
OMIM:619910 |
| Carpenter Syndrome 2 |
|
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios... |
OMIM:614976 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Bilateral lung agenesis, Hypoplastic left atrium, ... |
OMIM:601186 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary stenosis, Aortic valve... |
OMIM:618164 |
| Isotretinoin-Like Syndrome |
|
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... |
ORPHA:2306 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... |
OMIM:617478 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Situs inversus totalis, Atrioventricular canal defect, Inlet ventricular septal defect, Dextrocar... |
OMIM:619534 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis |
OMIM:615812 |
| Distal Deletion 15Q |
|
Abnormal aortic arch morphology, Coarctation of aorta, Double outlet right ventricle with doubly ... |
ORPHA:1596 |
| Congenital Tracheomalacia |
|
Pneumothorax, Pneumonia, Partial anomalous pulmonary venous return, Emphysema, Right aortic arch,... |
ORPHA:95430 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Enlarged ovaries, Enlarged... |
ORPHA:2298 |
| 22Q11.2 Duplication Syndrome |
|
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... |
ORPHA:1727 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Transposition of the great arteries, Pulmonary artery stenosis, Tetralogy of Fallot, Double outle... |
OMIM:280000 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:618223 |
| 8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Transposition of the great arteries, Abnormal aortic morphology, H... |
ORPHA:251071 |
| Frank-Ter Haar Syndrome |
|
Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v... |
OMIM:249420 |
| Meckel Syndrome |
|
Situs inversus totalis |
ORPHA:564 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Holoprosencephaly 13, X-Linked |
|
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
| Kawasaki Disease |
|
Myocarditis, Abnormal pulmonary interstitial morphology, Recurrent pharyngitis, Vasculitis, Ascen... |
ORPHA:2331 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... |
OMIM:619472 |
| Ring Chromosome 7 Syndrome |
|
Situs inversus totalis |
ORPHA:1449 |
| Cardiac-Urogenital Syndrome |
|
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Interrupted aortic arch, Sci... |
OMIM:618280 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Microphthalmia, Syndromic 2 |
|
Dextrocardia, Hypoplastic aortic arch, Pulmonic stenosis, Aortic valve stenosis, Mitral valve pro... |
OMIM:300166 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... |
OMIM:600001 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia |
OMIM:619895 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries |
OMIM:617877 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Hypopla... |
OMIM:619503 |
| Carpenter Syndrome 1 |
|
Transposition of the great arteries, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteri... |
OMIM:201000 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
| Holt-Oram Syndrome |
|
Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal... |
OMIM:142900 |
| Johanson-Blizzard Syndrome |
|
Situs inversus totalis, Atrial septal defect, Vascular dilatation, Dilated cardiomyopathy, Ventri... |
OMIM:243800 |
| Charge Syndrome |
|
Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Pulmonic stenosis, Secundu... |
OMIM:214800 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... |
ORPHA:2255 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot |
ORPHA:1780 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... |
OMIM:253800 |
| Doors Syndrome |
|
Double outlet right ventricle, Aspiration pneumonia |
ORPHA:79500 |
| Chime Syndrome |
|
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... |
ORPHA:3474 |
| Restrictive Dermopathy |
|
Transposition of the great arteries, Dextrocardia, Ascending tubular aorta aneurysm, Pulmonary hy... |
ORPHA:1662 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... |
OMIM:612474 |
| Neu-Laxova Syndrome 1 |
|
Transposition of the great arteries, Patent foramen ovale, Pulmonary hypoplasia, Patent ductus ar... |
OMIM:256520 |
| Vater/Vacterl Association |
|
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Patent ductu... |
OMIM:192350 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Transposition of the great arteries, Cardiomyopathy, Total anomalous pulm... |
OMIM:312870 |
