Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
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 |
|
Transient neonatal diabetes mellitus, Type II 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 |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Lipedema |
|
Edema |
OMIM:614103 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis |
OMIM:615451 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom... |
OMIM:605376 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615505 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615500 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... |
OMIM:608647 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... |
ORPHA:3097 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... |
OMIM:613808 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:612650 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Aortic valve stenosis, Pulmon... |
OMIM:615415 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormal lung lobation, Abnormal heart morphology, Abnormal... |
ORPHA:1666 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema |
OMIM:189800 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... |
ORPHA:99886 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect |
OMIM:619608 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis |
OMIM:612776 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis |
OMIM:202650 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Aminopterin/Methotrexate Embryofetopathy |
|
Pulmonary artery atresia, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
ORPHA:1908 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ... |
OMIM:270100 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop... |
ORPHA:3426 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Mastocytosis, Cutaneous |
|
Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu... |
OMIM:618316 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus... |
OMIM:613686 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aortic valve stenosis, Ri... |
OMIM:267010 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot |
OMIM:613630 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis |
ORPHA:990 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Pagod Syndrome |
|
Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morphology, Hypoplastic left... |
ORPHA:991 |
Joubert Syndrome |
|
Situs inversus totalis |
ORPHA:475 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Hypoketotic hypoglycemia |
OMIM:600649 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, Atrial septal defect, Aor... |
OMIM:208540 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Edema, Dehydration |
ORPHA:103910 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... |
OMIM:301056 |
Isolated Cleft Lip |
|
Situs inversus totalis |
ORPHA:199302 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle |
OMIM:614886 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Edema |
OMIM:612097 |
Mody |
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Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... |
ORPHA:552 |
Yuan-Harel-Lupski Syndrome |
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Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... |
OMIM:616652 |
Lipodystrophy, Familial Partial, Type 3 |
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Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Lymphangiectasia, Pulmonary, Congenital |
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Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Familial Renal Glucosuria |
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Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Edema |
OMIM:610158 |
Cardiac Diverticulum |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Maternal Phenylketonuria |
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Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Hypoplastic left hear... |
ORPHA:2209 |
Giant Cell Arteritis |
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Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Vasculitis, Aortic dissection, D... |
ORPHA:397 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Dextrocardia, Isomerism, Pulmonary hypoplasia, Transposition of the great arteries, Atrioventricu... |
OMIM:314390 |
Marden-Walker Syndrome |
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Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th... |
ORPHA:2461 |
Criss-Cross Heart |
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Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Fetal Trimethadione Syndrome |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... |
ORPHA:163956 |
Down Syndrome |
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Ventricular septal defect, Complete atrioventricular canal defect, Pulmonary artery stenosis, Pat... |
OMIM:190685 |
15Q11.2 Microdeletion Syndrome |
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Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
Wolcott-Rallison Syndrome |
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Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Thoracoabdominal Syndrome |
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Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of the great arteries, Ectopia cordis |
OMIM:313850 |
Aneurysm Of Sinus Of Valsalva |
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Aortic regurgitation, Congestive heart failure, Heart murmur, Edema |
ORPHA:1054 |
Diabetic Embryopathy |
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Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... |
ORPHA:1926 |
Absence Of The Pulmonary Artery |
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Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Renpenning Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis |
OMIM:309500 |
Carpenter Syndrome 2 |
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Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... |
OMIM:614976 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Kawasaki Disease |
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Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Ab... |
ORPHA:2331 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Coronary artery stenosis, Type II diabetes mellitus |
OMIM:615812 |
Isotretinoin Embryopathy-Like Syndrome |
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Conotruncal defect |
OMIM:243440 |
Microphthalmia, Syndromic 9 |
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Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l... |
OMIM:601186 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Pulmonary artery dilatation, Recurrent respiratory infections, Cor triatriatum, Ventricular septa... |
OMIM:619534 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Distal Deletion 15Q |
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Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Insulin-Resistance Syndrome Type B |
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Enlarged ovaries, Enlarged polycystic ovaries, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis |
OMIM:618223 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... |
OMIM:280000 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
8P23.1 Microdeletion Syndrome |
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Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... |
ORPHA:251071 |
Isotretinoin-Like Syndrome |
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Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Frank-Ter Haar Syndrome |
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Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
Meckel Syndrome |
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Situs inversus totalis |
ORPHA:564 |
Congenital Tracheomalacia |
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Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
Holoprosencephaly 13, X-Linked |
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Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Ring Chromosome 7 Syndrome |
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Situs inversus totalis |
ORPHA:1449 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Cardiac-Urogenital Syndrome |
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Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Viss Syndrome |
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Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
OMIM:600001 |
Microphthalmia, Syndromic 2 |
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Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... |
OMIM:300166 |
Holoprosencephaly 14 |
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Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
Carpenter Syndrome 1 |
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Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... |
OMIM:201000 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... |
OMIM:619503 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... |
ORPHA:96147 |
Ververi-Brady Syndrome |
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Transposition of the great arteries |
OMIM:617982 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Atrial septal defect, ... |
OMIM:243800 |
Charge Syndrome |
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Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... |
OMIM:214800 |
Acitretin/Etretinate Embryopathy |
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Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... |
ORPHA:2255 |
Thakker-Donnai Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
Doors Syndrome |
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Double outlet right ventricle, Aspiration pneumonia |
ORPHA:79500 |
Chime Syndrome |
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Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Restrictive Dermopathy |
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Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr... |
ORPHA:1662 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Neu-Laxova Syndrome 1 |
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Ventricular septal defect, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of the g... |
OMIM:256520 |
Vater/Vacterl Association |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr... |
OMIM:192350 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cardiomyopathy, Tota... |
OMIM:312870 |