Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava ... |
OMIM:613759 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... |
OMIM:615382 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... |
OMIM:615415 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... |
OMIM:605376 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... |
ORPHA:3032 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Hepatocel... |
ORPHA:369 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomeg... |
OMIM:618955 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... |
OMIM:607361 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent upper respiratory tract i... |
OMIM:618699 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... |
OMIM:619123 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... |
OMIM:231100 |
Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormality of the sple... |
ORPHA:1666 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyo... |
OMIM:613313 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Porphyria Cutanea Tarda, Type I |
|
Porphyrinuria, Hepatic fibrosis |
OMIM:176090 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Ventricular hypertrophy, Cardiomyo... |
OMIM:232400 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fibrosis |
ORPHA:446 |
Colonic Atresia |
|
Abnormality of mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... |
OMIM:619662 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic ... |
OMIM:231530 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Renal cyst, Meningocele, Bile duct proliferation |
OMIM:611134 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Absent gallbladder, Renal cyst, Hepatic fibrosis, Horsesho... |
OMIM:612284 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta |
OMIM:616145 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Death in infan... |
OMIM:201475 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... |
OMIM:616589 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Periportal fibrosis |
OMIM:213010 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibro... |
OMIM:619111 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Familial Visceral Myopathy |
|
Hydroureter, Abdominal situs inversus, Hyperparathyroidism, Vesicoureteral reflux, Megacystis |
ORPHA:2604 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... |
OMIM:616278 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Absent inner dynein arms, Abnormal axonemal organization of respi... |
OMIM:613807 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... |
OMIM:615630 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
Senior-Boichis Syndrome |
|
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... |
ORPHA:84081 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615482 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Splenomegaly |
OMIM:271500 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoacidur... |
OMIM:231680 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia |
OMIM:613686 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr... |
ORPHA:3156 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Argininosuccinic aciduria, Elevated circulating alanine a... |
OMIM:603471 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Hepatic ... |
OMIM:619858 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure |
ORPHA:466794 |
Coach Syndrome 1 |
|
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephronophthisis, Cirrhosis, Unila... |
OMIM:216360 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic ki... |
OMIM:616629 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... |
OMIM:614876 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventric... |
OMIM:301068 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Dark yellow urine, Splenomegaly, Cir... |
ORPHA:30391 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegal... |
OMIM:606003 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Hepatic foam cells, Splenomegaly, Hepatic failure, Cirrhosis, ... |
OMIM:278000 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Death in childhood, Renal cyst, Hepatic fibrosis, Proxi... |
OMIM:602579 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Atrial septal defect, Abnormality of the kidney, Abnormality ... |
ORPHA:280 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Polycystic liver disease, Pancreatic fibrosis, Renal cyst, Hep... |
OMIM:208500 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst, Meningocele |
OMIM:603194 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Elevated hepatic transamina... |
ORPHA:79230 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615067 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... |
ORPHA:370 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... |
ORPHA:53035 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Abnormal tricuspid valve morphology, Hepatomegaly |
ORPHA:1759 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Atrial septal defect, Renal tubu... |
OMIM:610205 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Interstitial cardiac... |
OMIM:613426 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia |
OMIM:221950 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Heterotaxy, Pulmonic stenosis, Coarctation... |
ORPHA:3426 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Spontaneo... |
ORPHA:731 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus |
ORPHA:2062 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cholestasis, Patent ductus arteriosus, Perimembranous ven... |
OMIM:608104 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Vascul... |
ORPHA:2924 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Abnormality of the ki... |
ORPHA:480520 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... |
ORPHA:99094 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Patent ductus arteriosus |
ORPHA:2863 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Renal cyst, Hepatomegaly |
OMIM:614870 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth... |
OMIM:618329 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Congenital hepatic fibrosis, Renal insufficiency, Displacement of the urethr... |
ORPHA:2377 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice |
ORPHA:79234 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Ethylmalonic aciduria, 3-Methylglutaric aciduria, Acute p... |
ORPHA:26791 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,... |
OMIM:604387 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect |
OMIM:617877 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Death in childhood, Cholestasis, Elevated hepa... |
OMIM:618641 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Situs inve... |
OMIM:613095 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Renal cyst, Stillbirth |
OMIM:263630 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Abnormal lung lobation, Polycystic kidney dysplasia, Pulmonary hypoplasia, A... |
OMIM:263210 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Pulmonary cyst, Multiple... |
ORPHA:400 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Dextrocardia |
OMIM:616037 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Myoglobinuria, Elevated hepatic transaminase, Dicarboxylic aciduria, Dilat... |
ORPHA:71212 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricular septal defect, Jaundice |
ORPHA:1296 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Atrioventricular canal defect, Elevated circulating aspartate aminotransferase conc... |
OMIM:619534 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... |
OMIM:619487 |
Mirizzi Syndrome |
|
Cholelithiasis, Dark urine, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga... |
ORPHA:521219 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, Cholestasis, Hepato... |
ORPHA:264580 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa... |
OMIM:613550 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Elevated hepatic trans... |
ORPHA:562639 |
Mpi-Cdg |
|
Decreased liver function, Hepatic fibrosis, Hepatomegaly, Portal hypertension |
ORPHA:79319 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembranou... |
ORPHA:363444 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:110 |
Lambert Syndrome |
|
Hypospadias, Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Mungan Syndrome |
|
Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Aminoaciduria, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotran... |
OMIM:615486 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... |
ORPHA:1505 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly, Vascular dilatation |
OMIM:614859 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Death in childhood, Neonatal death, Cholestasis, Hepatic fibrosis, Death in infancy |
OMIM:609313 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Abdominal situs inversus |
ORPHA:2108 |
Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Isomerism, Transposition of the great arteries, Atrioventricular canal defect |
OMIM:314390 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Peripheral pulmonary artery stenosis, Atrial septal defect, Hepatomegaly, ... |
ORPHA:84064 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Duplicated colle... |
ORPHA:541423 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Tetralogy of Fallot, Absent gallbladder, Abnormal localization of kidne... |
ORPHA:3186 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism |
OMIM:613730 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase |
OMIM:300752 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Decreased liver function, Patent ductus arteriosus |
OMIM:617021 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... |
OMIM:614377 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycystic kidney dysp... |
OMIM:610199 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Hepatomegaly, Death in childhood, Stroke-like episode, Elevated hepatic trans... |
OMIM:212065 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas |
ORPHA:438274 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Left ventricular hypertrophy, Cholestasis, Elev... |
OMIM:613610 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Green urine, Cholestasis |
OMIM:614156 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Renpenning Syndrome |
|
Hypospadias, Decreased testicular size, Heterotaxy |
ORPHA:3242 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Hepatic fibrosis, Renal hypoplasia, Pulmona... |
OMIM:614091 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Dilated cardiomyopathy, H... |
OMIM:615895 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal cyst, Bile duct pro... |
OMIM:261515 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hyperoxaluria |
OMIM:601539 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:617044 |
Donohue Syndrome |
|
Ovarian cyst, Cholestasis, Long penis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis |
OMIM:246200 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619481 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Recurrent respiratory in... |
OMIM:618278 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Accessory spleen, Hepatopulmonary... |
OMIM:618280 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hepatic fibrosis, ... |
OMIM:619377 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pul... |
OMIM:200995 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:264480 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy |
OMIM:249270 |
Meckel Syndrome 14 |
|
Single ventricle, Polycystic kidney dysplasia, Hepatic fibrosis, Pulmonary hypoplasia, Pneumothorax |
OMIM:619879 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal... |
OMIM:173900 |
Fanconi Anemia, Complementation Group O |
|
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Cryptorchidism, Stage ... |
OMIM:613390 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hepatic failure, Pulmonic stenosis, Splenomegaly, Cirrhosis, Hypospadias, Tetralogy... |
OMIM:222470 |
Primary Biliary Cholangitis |
|
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis, Portal hyperte... |
ORPHA:186 |
Porphyria Cutanea Tarda |
|
Porphyrinuria, Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma,... |
ORPHA:101330 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Ventricular s... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated circulating aspart... |
OMIM:619525 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... |
OMIM:300972 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, Renal cyst, Renal insu... |
OMIM:615993 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Abnormalit... |
ORPHA:1414 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Perimembranous ventric... |
OMIM:158170 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia, Meningocele, Congenital hepatic fibrosis |
ORPHA:2031 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Splenomegaly, Renal agenesis, Abnormality of the ureter, Acce... |
OMIM:249000 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Hepatic fibrosis, Pulmonary fibrosis, Urethral stricture |
OMIM:613989 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Joubert Syndrome With Hepatic Defect |
|
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Multi... |
ORPHA:1454 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Arima Syndrome |
|
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... |
OMIM:243910 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
Transketolase Deficiency |
|
Hepatomegaly, Atrial septal defect, Abnormal coronary artery course, Increased level of ribose in... |
ORPHA:488618 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Primary Pulmonary Hypoplasia |
|
Dextrocardia, Secundum atrial septal defect, Abnormal pulmonary artery morphology |
ORPHA:2257 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Tetralogy of Fallot, Ventricular septal defect, A... |
ORPHA:1166 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Peritoneal abscess, Ventricular septal defect, Hepatitis, Abnormality o... |
ORPHA:436252 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect |
OMIM:618929 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormality of the liver |
ORPHA:234 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
Dpm1-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Jaundice, Splenomegaly |
OMIM:224100 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic tr... |
ORPHA:79303 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Arteriovenous malformation, Cirrhosis, Tetralogy of Fallot, ... |
ORPHA:974 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Venous insufficiency, Elevated h... |
ORPHA:88673 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung, Nodular goiter, Abnormal liv... |
ORPHA:1332 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Rena... |
OMIM:614866 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... |
OMIM:612946 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... |
ORPHA:79240 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatos... |
ORPHA:231226 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia, Coronary artery fist... |
OMIM:614294 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:228940 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Atrial septal defect, Cholestatic liver disease, Renal tubular acidosis, Ri... |
OMIM:208085 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... |
ORPHA:244 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Micropenis, Pancreatic fibrosis, Ventricular septal defect, Polycystic kidn... |
OMIM:263520 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Hepatomegaly, Micropenis, Pancreatic hypoplasia, Pulmonary hypoplasia, Biliary hy... |
ORPHA:83617 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Criss-Cross Heart |
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Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Citrullinemia Type Ii |
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Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic fibr... |
ORPHA:247585 |
Distal Trisomy 5Q |
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Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Li-Campeau Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale |
OMIM:619189 |
Tetraamelia Syndrome 2 |
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Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
46,Xx Sex Reversal 5 |
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Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
Farber Disease |
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Cherry red spot of the macula, Hepatic failure, Nodular pattern on pulmonary HRCT, Hepatosplenome... |
ORPHA:333 |
Primary Non-Essential Cutis Verticis Gyrata |
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Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
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Decreased liver function, Polycystic kidney dysplasia, Dilatation of the cerebral artery, Hepatic... |
OMIM:600666 |
Williams Syndrome |
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Cholelithiasis, Abnormal cardiac septum morphology, Stroke, Abnormal carotid artery morphology, D... |
ORPHA:904 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
ORPHA:231214 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... |
ORPHA:401935 |
Gallbladder Disease 4 |
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Cholelithiasis |
OMIM:611465 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Ventricular septal defect, Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Meacham Syndrome |
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Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
Congenital Disorder Of Glycosylation, Type Il |
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Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia... |
OMIM:608776 |
Microphthalmia, Syndromic 12 |
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Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
Alveolar Echinococcosis |
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Abnormality of bladder morphology, Decreased liver function, Pulmonary cyst, Abnormal pericardium... |
ORPHA:284 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Aortic atherosclerotic lesion, Macrovesicular hepatic steatosis, Cholestasis, Accelerated atheros... |
ORPHA:209902 |
Bardet-Biedl Syndrome 10 |
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Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Alpha-Thalassemia |
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Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly |
ORPHA:846 |
Timothy Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... |
OMIM:601005 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
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Situs inversus totalis |
OMIM:300991 |
Congenital Heart Defects, Multiple Types, 7 |
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Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Chromosome 1P36 Deletion Syndrome, Proximal |
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Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Partia... |
OMIM:619343 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Decreased liver function, Cirrhosis, Recurrent urinary tract infections, Cholestasis, Abnormal pu... |
OMIM:613658 |
Methimazole Embryofetopathy |
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Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Fetal Trimethadione Syndrome |
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Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:1913 |
Truncus Arteriosus |
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Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Prune Belly Syndrome |
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Urogenital sinus anomaly, Atrial septal defect, Abnormality of the ureter, Recurrent urinary trac... |
ORPHA:2970 |
Fixed Subaortic Stenosis |
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Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Ventricular septal defect, Atrial septal defect, Stroke |
ORPHA:49827 |
Renal Tubular Dysgenesis |
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Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Pulmonary hypopla... |
ORPHA:3033 |
Mosaic Trisomy 9 |
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Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Multiple renal cysts, Endoc... |
ORPHA:99776 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Hepatomegaly, Aminoaciduria, Hypoplasia of the thymus, Death in childhood, Intrahepatic biliary d... |
OMIM:214110 |
Congenital Rubella Syndrome |
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Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Patent ductus arteri... |
ORPHA:290 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
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Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
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Renal cyst, Hepatic cysts |
OMIM:617874 |
Genitopalatocardiac Syndrome |
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Abnormal cardiac septum morphology, Hypospadias, Multicystic kidney dysplasia, Abnormality of the... |
ORPHA:2075 |
Bardet-Biedl Syndrome 1 |
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Micropenis, Left ventricular hypertrophy, Abnormality of the kidney, Biliary tract abnormality, H... |
OMIM:209900 |
Senior-Loken Syndrome 8 |
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Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... |
OMIM:616307 |
Axial Osteomalacia |
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Polycystic liver disease, Renal cyst |
OMIM:109130 |
Microgastria-Limb Reduction Defects Association |
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Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Splenogonada... |
OMIM:156810 |
Sickle Cell Anemia |
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Cholelithiasis, Hepatomegaly, Stroke, Splenomegaly, Hematuria, Renal insufficiency, Jaundice, Car... |
OMIM:603903 |
Developmental And Epileptic Encephalopathy 102 |
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Situs inversus totalis, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
Meckel Syndrome, Type 10 |
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Hypospadias, Renal cyst, Malformation of the hepatic ductal plate, Micropenis |
OMIM:614175 |
Congenital Alveolar Capillary Dysplasia |
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Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... |
ORPHA:210122 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
Marfanoid Habitus With Situs Inversus |
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Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Persisten... |
OMIM:609008 |
X-Linked Lymphoproliferative Disease |
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Decreased liver function, Nephritis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Fulminant... |
ORPHA:2442 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Klippel-Trénaunay Syndrome |
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Atrial septal defect, Peripheral arteriovenous fistula, Hepatomegaly, Patent ductus arteriosus, A... |
ORPHA:90308 |
Short-Rib Thoracic Dysplasia 12 |
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Hepatomegaly, Periportal fibrosis, Splenomegaly, Cystic renal dysplasia, Neonatal death, Hypoplas... |
OMIM:269860 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Double outlet right ventricle, Cholelithiasis, Renal tubular dysfunction, Atrial septal defect, H... |
OMIM:614886 |
Chromosome 15Q14 Deletion Syndrome |
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Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
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Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
Diamond-Blackfan Anemia 6 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... |
OMIM:612561 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
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Ventricular septal defect |
OMIM:616901 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Exocrine pancreatic insufficiency, Atrial septal defect, Accessory spleen, Elevated hepatic trans... |
OMIM:620005 |
Protoporphyria, Erythropoietic, 1 |
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Cholelithiasis, Hepatic failure |
OMIM:177000 |
Hypoplastic Left Heart Syndrome 2 |
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Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Johanson-Blizzard Syndrome |
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Dextrocardia, Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Abnormality ... |
ORPHA:2315 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Microvesicular hepatic steatosis, Stroke, Precocious atherosclerosis, H... |
ORPHA:275761 |
Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Cholelithiasis, Aortic valve calcification, Splenomegaly, Calcification o... |
ORPHA:2072 |
Meckel Syndrome |
|
Urethral atresia, Pancreatic fibrosis, Accessory spleen, Ureteral duplication, Multicystic kidney... |
ORPHA:564 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Abnormal pericardium morphology, Renal agenesis, Hypospadias, Tetralogy of ... |
ORPHA:1335 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2476 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Neph... |
ORPHA:445038 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:613458 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Coarctat... |
ORPHA:508498 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Hepatomegaly, Death in infancy |
OMIM:614862 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Chronic kidney disease, Hepatomegaly, Hepatic failure, Stage 1 chronic kid... |
OMIM:218330 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:618624 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Ovarian cyst, Hepatic cysts, Polycystic kidney dysplasia, Hepatic fibrosis, Pro... |
OMIM:311200 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice, Exercise-induced myoglobinuria |
OMIM:232800 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Heterotaxy |
OMIM:618846 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Pulmonary fibrosis |
OMIM:224230 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hematuria, Abnormal pulmonary interstitial morphology, Bil... |
ORPHA:77259 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Nephronophthisis, Reduced renal corticomedullary differentiation, Hepatosplenomegal... |
OMIM:266920 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Tetralogy of Fallot, Abnormal heart morphology |
ORPHA:96092 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Cat Eye Syndrome |
|
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Pulmonic stenosis, Biliary atres... |
OMIM:115470 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Atrial septal defect, Periportal fibrosis, Hepatomegaly, Ureteral hypopl... |
ORPHA:79328 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Ventricular septal defect, Persistent left superior vena cava, Hypertrophic cardi... |
OMIM:618775 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
Apert Syndrome |
|
Ventricular septal defect, Overriding aorta |
OMIM:101200 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Atrial septal defect, Abnormal aortic valve morphology, Abnormal heart morphology |
ORPHA:261197 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice |
OMIM:613470 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Renal cyst, Decreased liver function, Multiple renal cysts |
OMIM:614883 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... |
OMIM:619656 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality... |
ORPHA:887 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Primum atrial septal defect |
OMIM:615272 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Pulmonary h... |
OMIM:608022 |
Diabetic Embryopathy |
|
Abnormality of the pancreas, Tetralogy of Fallot, Ventricular septal defect, Transposition of the... |
ORPHA:1926 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Pulmonary fibrosis, Recurrent respiratory infect... |
ORPHA:586 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Polysplenia, Primum atrial septal defect, Situs inversus t... |
OMIM:619608 |
Acute Liver Failure |
|