Cholangiocarcinoma, Susceptibility To |
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Cholangiocarcinoma |
OMIM:615619 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Biliary Atresia, Extrahepatic |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Gallbladder Disease 4 |
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Cholelithiasis |
OMIM:611465 |
Dubin-Johnson Syndrome |
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Jaundice, Biliary tract abnormality |
OMIM:237500 |
Nephronophthisis 19 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Meckel Syndrome, Type 3 |
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Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Hyperbiliverdinemia |
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Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Ketamine-Induced Biliary Dilatation |
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Abnormal biliary tract morphology |
ORPHA:293807 |
Biliary Cirrhosis, Primary, 1 |
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Biliary cirrhosis |
OMIM:109720 |
Protoporphyria, Erythropoietic, X-Linked |
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Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
North American Indian Childhood Cirrhosis |
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Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Parenteral Nutrition-Associated Cholestasis |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Nphp3-Related Meckel-Like Syndrome |
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Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Congenital Respiratory-Biliary Fistula |
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Abnormality of the liver |
ORPHA:2040 |
Benign Recurrent Intrahepatic Cholestasis |
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Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Caroli Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Mirizzi Syndrome |
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Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Meckel Syndrome, Type 5 |
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Bile duct proliferation |
OMIM:611561 |
Meckel Syndrome, Type 7 |
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Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Autosomal Erythropoietic Protoporphyria |
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Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Dubin-Johnson Syndrome |
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Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Joubert Syndrome 6 |
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Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Gcgr-Related Hyperglucagonemia |
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Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Alpha-Thalassemia |
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Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Meckel Syndrome, Type 2 |
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Bile duct proliferation |
OMIM:603194 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Protoporphyria, Erythropoietic, 1 |
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Cholelithiasis, Hepatic failure |
OMIM:177000 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Pancreatic Colipase Deficiency |
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Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation |
OMIM:611134 |
Spherocytosis, Type 1 |
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Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Hardikar Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Caroli Disease |
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Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
D-Bifunctional Protein Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ... |
OMIM:261515 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Pyruvate Kinase Deficiency Of Red Cells |
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Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Martinez-Frias Syndrome |
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Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Cranioectodermal Dysplasia 2 |
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Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... |
OMIM:613610 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... |
OMIM:613658 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Liver Disease, Severe Congenital |
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Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... |
OMIM:619991 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess |
ORPHA:436252 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... |
OMIM:249000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Pancreatic hypoplasia |
ORPHA:83617 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus |
OMIM:619480 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Cyst of the ductus choledochus, Hypoplastic nipples |
ORPHA:480880 |