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 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
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 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
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 |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis |
OMIM:615451 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 27 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:615504 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Abnor... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Ciliary Dyskinesia, Primary, 28 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... |
OMIM:620570 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardi... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:615481 |
Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... |
OMIM:605376 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... |
OMIM:616037 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Abdominal situs inversus, Situs inversus totalis, Dextrocardia |
OMIM:619607 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis |
OMIM:617092 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:620438 |
Ciliary Dyskinesia, Primary, 26 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Primary Ciliary Dyskinesia |
|
Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abno... |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... |
OMIM:615067 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... |
OMIM:608647 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... |
OMIM:615444 |
Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... |
ORPHA:185 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 18 |
|
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurrent respirator... |
OMIM:613807 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis |
OMIM:612650 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Conot... |
ORPHA:3097 |
Genitopalatocardiac Syndrome |
|
Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent ... |
OMIM:620642 |
Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... |
OMIM:615415 |
Dextrocardia |
|
Abnormality of abdominal situs, Abnormal lung lobation, Abnormal heart morphology, Situs inversus... |
ORPHA:1666 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema |
OMIM:189800 |
Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial septal defect |
OMIM:249270 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... |
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 |
Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia, Transient neonata... |
ORPHA:99886 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
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 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... |
ORPHA:154 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis |
OMIM:612776 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia |
OMIM:202650 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis |
OMIM:244400 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrioventricular canal defect,... |
OMIM:270100 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Nephronophthisis 2 |
|
Situs inversus totalis, Pulmonary hypoplasia |
OMIM:602088 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion |
OMIM:618773 |
Aminopterin/Methotrexate Embryofetopathy |
|
Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect |
ORPHA:1908 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus |
OMIM:606176 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Tetralogy of Fallot, Heterotaxy, Truncus arteriosus, Ventricular septal d... |
ORPHA:3426 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
Recombinant Chromosome 8 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... |
OMIM:179613 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Edema |
OMIM:154800 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, U... |
OMIM:613686 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis |
OMIM:614833 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Ri... |
OMIM:267010 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Bilateral trilobed lung |
OMIM:613630 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... |
ORPHA:99050 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis |
ORPHA:990 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs inversus totalis... |
ORPHA:289 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy |
OMIM:600649 |
Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... |
ORPHA:991 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... |
ORPHA:99125 |
Joubert Syndrome |
|
Situs inversus totalis |
ORPHA:475 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial septal defect, Patent ductus arteriosus, Pu... |
OMIM:208540 |
Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Congenital alve... |
OMIM:608978 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia |
OMIM:618838 |
Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit... |
ORPHA:2847 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... |
ORPHA:2326 |
Aortic Arch Interruption |
|
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ... |
ORPHA:2299 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Pulmonary artery atresia, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... |
OMIM:301056 |
Atrial Septal Defect 1 |
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Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect |
OMIM:614886 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hematochezia, Dehydration, Edema |
ORPHA:103910 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Edema |
OMIM:612097 |
Mody |
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Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... |
ORPHA:552 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... |
ORPHA:371428 |
Isolated Cleft Lip |
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Situs inversus totalis |
ORPHA:199302 |
Lipodystrophy, Familial Partial, Type 3 |
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Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Yuan-Harel-Lupski Syndrome |
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Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... |
OMIM:616652 |
Cardiac Diverticulum |
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Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Edema |
OMIM:610158 |
Giant Cell Arteritis |
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Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... |
ORPHA:397 |
Maternal Phenylketonuria |
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Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Atrioventricular canal defect, Persistent left superior vena cava, Transposition of the great art... |
OMIM:314390 |
Marden-Walker Syndrome |
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Abnormal anatomic location of the heart, Situs inversus totalis, Dextrocardia, Ventricular septal... |
ORPHA:2461 |
Cardiogenic Shock |
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Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... |
ORPHA:97292 |
X-Linked Intellectual Disability, Nascimento Type |
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Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Mitr... |
ORPHA:163956 |
Fetal Trimethadione Syndrome |
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Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa... |
ORPHA:1913 |
Criss-Cross Heart |
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Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
Aneurysm Of Sinus Of Valsalva |
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Aortic regurgitation, Heart murmur, Edema, Congestive heart failure |
ORPHA:1054 |
15Q11.2 Microdeletion Syndrome |
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Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
Down Syndrome |
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Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
Absence Of The Pulmonary Artery |
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Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal heart morpholo... |
ORPHA:980 |
Thoracoabdominal Syndrome |
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Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia |
OMIM:313850 |
Wolcott-Rallison Syndrome |
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Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
Diabetic Embryopathy |
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Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... |
ORPHA:1926 |
Renpenning Syndrome 1 |
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Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect, Ventricular septal defect |
OMIM:309500 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... |
OMIM:619910 |
Carpenter Syndrome 2 |
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Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ... |
OMIM:614976 |
Microphthalmia, Syndromic 9 |
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Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... |
OMIM:601186 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... |
OMIM:618164 |
Isotretinoin-Like Syndrome |
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Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
Isotretinoin Embryopathy-Like Syndrome |
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Conotruncal defect |
OMIM:243440 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... |
OMIM:617478 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Primum atrial septal defect, Unbalanced atrioventricular canal defect, Secundum atrial septal def... |
OMIM:619534 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis |
OMIM:615812 |
Distal Deletion 15Q |
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Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... |
ORPHA:1596 |
Congenital Tracheomalacia |
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Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... |
ORPHA:95430 |
Insulin-Resistance Syndrome Type B |
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Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... |
ORPHA:2298 |
22Q11.2 Duplication Syndrome |
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Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ... |
ORPHA:1727 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary a... |
OMIM:280000 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis |
OMIM:618223 |
8P23.1 Microdeletion Syndrome |
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Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
Frank-Ter Haar Syndrome |
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Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... |
OMIM:249420 |
Meckel Syndrome |
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Situs inversus totalis |
ORPHA:564 |
Congenital Tricuspid Valve Dysplasia |
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Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Holoprosencephaly 13, X-Linked |
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Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
Kawasaki Disease |
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Vasculitis, Abnormal pulmonary interstitial morphology, Double outlet right ventricle with subpul... |
ORPHA:2331 |
Viss Syndrome |
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Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
Ring Chromosome 7 Syndrome |
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Situs inversus totalis |
ORPHA:1449 |
Cardiac-Urogenital Syndrome |
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Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... |
OMIM:618280 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
Microphthalmia, Syndromic 2 |
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Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... |
OMIM:300166 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
Holoprosencephaly 14 |
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Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
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 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Vent... |
OMIM:619503 |
Carpenter Syndrome 1 |
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Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... |
OMIM:201000 |
Ververi-Brady Syndrome |
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Transposition of the great arteries |
OMIM:617982 |
Holt-Oram Syndrome |
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Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric... |
OMIM:142900 |
Charge Syndrome |
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Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... |
OMIM:214800 |
Johanson-Blizzard Syndrome |
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Dilated cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Vascular dilatation, A... |
OMIM:243800 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... |
ORPHA:2255 |
Thakker-Donnai Syndrome |
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Tetralogy of Fallot, Transposition of the great arteries, Ventricular septal defect |
ORPHA:1780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... |
OMIM:253800 |
Doors Syndrome |
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Double outlet right ventricle, Aspiration pneumonia |
ORPHA:79500 |
Chime Syndrome |
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Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... |
ORPHA:3474 |
Restrictive Dermopathy |
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Pulmonary hypoplasia, Transposition of the great arteries, Atrial septal defect, Dextrocardia, Pa... |
ORPHA:1662 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... |
OMIM:612474 |
Neu-Laxova Syndrome 1 |
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Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Patent duct... |
OMIM:256520 |
Vater/Vacterl Association |
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Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s... |
OMIM:192350 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Right ventricula... |
OMIM:312870 |