Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Fat malabsorption, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome... |
ORPHA:79301 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... |
ORPHA:3032 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Zollinger-Ellison syndrome, Abnormal biliary tract morp... |
ORPHA:438274 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... |
ORPHA:79095 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Cholelithiasis |
ORPHA:3166 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97278 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large... |
ORPHA:171 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Dysphagia |
OMIM:160900 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal... |
OMIM:600001 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Intestinal malrotation, Malformation of ... |
OMIM:208540 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros... |
OMIM:201475 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97261 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Intestinal ... |
ORPHA:2255 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Atrial septal defect, Cholelithiasis, Double outlet right ventricl... |
OMIM:614886 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft palate, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis... |
OMIM:612284 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly |
ORPHA:858 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary t... |
ORPHA:1414 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi... |
OMIM:235200 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pol... |
ORPHA:1335 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholel... |
OMIM:240300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, High palate, Cardiomegaly |
OMIM:269920 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Primum atrial septal defect |
OMIM:615272 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice |
OMIM:232800 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Hepatic cysts, Mitral valve prolapse |
OMIM:173900 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Cholecy... |
ORPHA:774 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Distal Duplication 5Q |
|
Cryptorchidism, Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Cryptorchidism, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia ... |
ORPHA:96092 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia |
OMIM:253250 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Steatorrhea, Macroglossia, Recurrent pancr... |
OMIM:618268 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Biliary cirrhosis, Cholestasis, He... |
OMIM:267010 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Steator... |
ORPHA:79303 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Cholestasis |
ORPHA:232 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Furrowed tongue, High palate, Cholelithiasis, Decreased testicular size |
OMIM:300534 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Steinfeld Syndrome |
|
Absent gallbladder, Median cleft lip and palate, Bifid uvula, Abnormal heart morphology |
OMIM:184705 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Triploidy |
|
Hepatomegaly, Intestinal malrotation, Cryptorchidism, Abnormality of the pancreas, Abnormality of... |
ORPHA:3376 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Malrotation of small bowel, Abnormal left v... |
ORPHA:264450 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Furrowed tongue, Atrial septal defe... |
ORPHA:464738 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Goiter, Pituit... |
ORPHA:733 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Cholelithiasis |
OMIM:263700 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... |
ORPHA:465508 |
Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea... |
ORPHA:42 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Neoplasm of the liver... |
ORPHA:77293 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Aortic valve calcification, ... |
ORPHA:2072 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Complete atrioventricular canal... |
OMIM:617925 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cleft palate, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary va... |
ORPHA:567 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Cirrh... |
OMIM:215600 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Bile duct proliferation, Cleft palate |
OMIM:611134 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Colitis |
OMIM:209920 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Pseudobulbar paralysis |
OMIM:213700 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper... |
OMIM:617713 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cleft palate, Perimembranous... |
ORPHA:83617 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Cleft palate, Atrial septal defect |
OMIM:300712 |
Trisomy 10P |
|
Absent gallbladder, Abnormal heart morphology, Gastroesophageal reflux, High palate, Rectovaginal... |
ORPHA:171929 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Gastrointestinal atresia, Hepatitis, Intestina... |
ORPHA:436252 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate, Abno... |
ORPHA:2075 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, High palate, Pancreatic aplasia |
ORPHA:556955 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Cleft palate |
OMIM:611561 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Cleft palate, Atrial septal defect |
ORPHA:163979 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Sandhoff Disease |
|
Macroglossia, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inf... |
ORPHA:186 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Macroglo... |
ORPHA:308552 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Hepatosplenomegaly... |
OMIM:607330 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Intestinal pseudo-obstruction, Decreased response to growth hormon... |
ORPHA:273 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly |
ORPHA:391428 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Cryptorchidism, Anorectal anomaly, Abnormality of the gallbladder, T... |
ORPHA:887 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, High, narrow palate, Hepatic calcification, Cardiomyopathy, Abnormal ... |
ORPHA:228308 |
Williams Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Gastroesophageal reflux, Atrial septal defe... |
ORPHA:904 |
Zttk Syndrome |
|
Absent gallbladder, Ventricular septal defect, Submucous cleft hard palate, High palate, Atrial s... |
OMIM:617140 |
Digeorge Syndrome |
|
Parathyroid agenesis, Ventricular septal defect, Splenomegaly, High, narrow palate, Cleft palate,... |
OMIM:188400 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Dextrocardia, Cryptorchidism, Jaundice, Biliary atresia, Cleft ... |
ORPHA:3310 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal atrial septum morphology, Prolonged neonatal jaundice |
ORPHA:909 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... |
ORPHA:100086 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Atrial septal defe... |
ORPHA:79330 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Beck-Fahrner Syndrome |
|
High palate, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Cardiomegaly |
OMIM:616897 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Hepatic failure |
OMIM:608013 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... |
OMIM:617022 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... |
OMIM:602782 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, Cirrhosis, Steatorrh... |
ORPHA:14 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly |
OMIM:232300 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Mitr... |
ORPHA:93932 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Protein-losing enteropathy, Elevated hepati... |
OMIM:619991 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Macroglossia, High palate |
ORPHA:96191 |
Developmental And Epileptic Encephalopathy 95 |
|
Macroglossia, Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, High palate, Anal atresia |
ORPHA:96176 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Submucous cleft soft palate, Gastrointestinal dysmotility, Cleft palate, Abno... |
ORPHA:500150 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... |
OMIM:613610 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly |
OMIM:230000 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ... |
OMIM:261515 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Malabsorption, Splenomegaly, Macroglossia, Abnormal aortic valve morp... |
ORPHA:581 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia,... |
OMIM:130650 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Peters-Plus Syndrome |
|
Ventricular septal defect, Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality, Cleft... |
OMIM:261540 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:619525 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Intestinal malrotation, Portal hypertension, Esophageal varix, Cho... |
OMIM:613658 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, Atrial septal defect, L... |
OMIM:245600 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries |
ORPHA:137675 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Macroglo... |
ORPHA:365 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... |
OMIM:300967 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... |
OMIM:249000 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Cardiomegaly |
ORPHA:2463 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... |
ORPHA:116 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Pyloric stenosis, Abnormality o... |
ORPHA:818 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Cardiomegaly, Hepatosplenomegaly, Prolonged neonatal jaundice, Hyp... |
ORPHA:51 |
Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Abnormality of the gallbladder, Cleft palate, Ab... |
ORPHA:280 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis |
ORPHA:109 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Parotitis |
OMIM:256040 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cryptorchidism, High, narrow palate, Pyloric stenosis, C... |
ORPHA:3472 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |