Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... |
ORPHA:79302 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... |
OMIM:619662 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Cyanosis And Hepatic Disease |
|
Hepatitis |
OMIM:219400 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:60 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... |
ORPHA:30391 |
Complement Component 4B Deficiency |
|
Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:614379 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Neoplasm of the pancreas |
ORPHA:438274 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferation, Pancreatic cysts, ... |
OMIM:267010 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Splenomegaly, Recurrent skin infections, Inflammation of the... |
OMIM:300635 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Splenomegaly |
ORPHA:444463 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase |
OMIM:300752 |
Meckel Syndrome, Type 6 |
|
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
ORPHA:567983 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Jaundice, Splenomegaly |
OMIM:224100 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... |
ORPHA:562639 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Hashimoto thyr... |
OMIM:618549 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Intrahepat... |
OMIM:605479 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... |
OMIM:615207 |
Immune Deficiency Disease |
|
Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Macrovesicular hepatic steatosis, Elevated gamma-glutamyltransferase le... |
OMIM:618329 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abno... |
ORPHA:79303 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Hardikar Syndrome |
|
Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... |
OMIM:301068 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase concentration, ... |
ORPHA:521219 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Arthritis, Elevated hepatic transam... |
ORPHA:905 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice |
OMIM:194380 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice |
ORPHA:79234 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly |
ORPHA:848 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferati... |
OMIM:208500 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... |
ORPHA:480520 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... |
OMIM:261515 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Parotitis, Abnormality of the spleen, Acute infecti... |
ORPHA:31202 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Eczema, Cirrhosis |
ORPHA:79278 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... |
ORPHA:79095 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Hepatitis, Recurrent pneumonia, Pneum... |
ORPHA:169160 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin... |
OMIM:611182 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Recurrent pneumonia, Chol... |
OMIM:613610 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... |
ORPHA:101330 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Sp... |
OMIM:619525 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Decreased glucosephosphate isomerase level, Splenomegaly, Cholecystitis, Pigment ... |
OMIM:613470 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Neoplasm, Skin rash, Chronic otitis media, Arthritis, Hepatitis, Recurr... |
ORPHA:47 |
Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Elevated cir... |
ORPHA:158061 |
Primary Biliary Cholangitis |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatocellul... |
ORPHA:186 |
Alpha-Thalassemia |
|
Cholelithiasis, Splenomegaly, Myelodysplasia, Jaundice, Hypersplenism |
ORPHA:846 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczema, Hepatic failure |
OMIM:177000 |
Adult-Onset Still Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic transaminase, Hep... |
ORPHA:829 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Elevated hepati... |
ORPHA:139402 |
Bare Lymphocyte Syndrome, Type Ii |
|
Colitis, Viral hepatitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Infectiou... |
OMIM:209920 |
Lichen Planopilaris |
|
Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Keratoconjunctivitis, H... |
OMIM:269200 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:222800 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Chronic hepatitis, Colitis, Hepatomegaly |
OMIM:614602 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatase concentration, Ma... |
ORPHA:39812 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Decreased liver function, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Portal hypertens... |
OMIM:613658 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormality, Portal hypert... |
ORPHA:1414 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Jau... |
OMIM:613404 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... |
ORPHA:731 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing ch... |
OMIM:308230 |
Neurofibroma |
|
Abnormal biliary tract morphology, Symmetric spinal nerve root neurofibromas, Facial neoplasm, Pl... |
ORPHA:252183 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:235700 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Keratoconjunctivitis sicca, Abnormality o... |
ORPHA:91138 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia, Elevated gamma-glu... |
OMIM:208085 |
Griscelli Syndrome |
|
Hepatitis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:381 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atop... |
ORPHA:183675 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Cholestatic liver disease, Portal hypertension, Cholestasis |
ORPHA:440713 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Intrahepatic bile duct dil... |
OMIM:619534 |
Cirrhosis, Familial |
|
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Jaundice, Biliary cirrhosis |
OMIM:215600 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Hepatitis, Portal hypertension... |
ORPHA:228426 |
Meckel Syndrome, Type 1 |
|
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... |
OMIM:249000 |
Congenital Enterovirus Infection |
|
Skin rash, Hepatic failure, Myocarditis, Cholestasis, Hepatitis, Infectious encephalitis |
ORPHA:292 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Hematological neoplasm, Hepatitis, Infectious encephalitis, ... |
ORPHA:1163 |
Legionnaires Disease |
|
Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Perica... |
ORPHA:549 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Acute hepatitis, Hepatomegaly |
OMIM:238970 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Myositis |
ORPHA:565899 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Jaundice, Splenomegaly |
OMIM:182900 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Iridocyclitis, Rheumatoid arthritis, Atrophic gastritis, Hepatitis, Tubulointerstitial n... |
ORPHA:227990 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Gallbladder Neuroendocrine Tumor |
|
Elevated alkaline phosphatase of hepatic origin, Extrahepatic cholestasis, Neuroendocrine neoplas... |
ORPHA:100086 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Iridocyclitis, Rheumatoid arthritis, Atrophic gastritis, Autoimmune hypoparathyroidism, ... |
ORPHA:227982 |
Q Fever |
|
Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi... |
ORPHA:781 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Enterovi... |
OMIM:307200 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma |
OMIM:304790 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneumonia, Rhinit... |
ORPHA:2552 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Avian Influenza |
|
Myelitis, Increased circulating lactate dehydrogenase concentration, Elevated hepatic transaminas... |
ORPHA:454836 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi... |
ORPHA:36234 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice, Reduced red cell pyruvate ki... |
OMIM:266200 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Iridocyclitis, Chronic active hepatitis, Chronic oral candidi... |
OMIM:240300 |
Mccune-Albright Syndrome |
|
Elevated circulating growth hormone concentration, Pancreatitis, Benign gastrointestinal tract tu... |
ORPHA:562 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice, Gout |
OMIM:232800 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Splenomegaly, Hepatitis, Hashimoto thyroiditis, Portal hypertension, Hypersplenism |
OMIM:613385 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Basal cell carcinoma, Uveitis, Hypersplenism, T-ce... |
ORPHA:3261 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Splenomegaly, Inflammatory... |
ORPHA:37042 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl... |
ORPHA:572 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis |
ORPHA:586 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Hashimoto thyroiditis, Abnormality of th... |
ORPHA:436252 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Myositis |
ORPHA:589 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Ne... |
OMIM:203800 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Splenomegaly, Cirrhosis, Chronic hepatitis, Hepatocellular carcinoma, Hepatos... |
ORPHA:231226 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Hepatomegaly, Splenomegaly, Hepatic failure, Fulminant hepatitis, Lymphoma, Inf... |
OMIM:308240 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Skin rash, Enchondroma, Juvenile rheumatoi... |
ORPHA:1855 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Splenomegaly |
ORPHA:584 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Skin rash, Cheilitis |
ORPHA:1334 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated alkaline phosphatase of hepatic origin, Neoplasm of the liver, Hepatomegaly, Intrahepati... |
ORPHA:100085 |
Simple Cryoglobulinemia |
|
B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Membranoproliferative glomerulonep... |
ORPHA:91139 |
Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure... |
OMIM:277900 |
Relapsing Polychondritis |
|
Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Recurrent apht... |
ORPHA:728 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Elevated circulating alk... |
ORPHA:400 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... |
OMIM:619991 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enterocolitis, Hypoplasia of the thymus, T-cell lymphoma, Psoriasiform dermatitis, Interface hepa... |
OMIM:243150 |
Rift Valley Fever |
|
Skin rash, Elevated hepatic transaminase, Hepatitis, Uveitis, Infectious encephalitis, Jaundice |
ORPHA:319251 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Aplasia of the thymus, Chronic otitis... |
ORPHA:83471 |
Agammaglobulinemia, X-Linked |
|
Prostatitis, Pyoderma, Enteroviral hepatitis, Hepatocellular carcinoma, Recurrent sinusitis, Epid... |
OMIM:300755 |
Grfoma |
|
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97261 |
Zygomycosis |
|
Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ... |
ORPHA:73263 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Enterocolitis, Oropharyngeal squamous cell carcinoma, Eczem... |
ORPHA:391487 |
Ppoma |
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Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97278 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Decreased liver function, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatitis |
ORPHA:415 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Hepatomegaly, Eczema, Pancreatic hypoplasia, Superficial dermal perivascular infl... |
ORPHA:83617 |
Idiopathic Hypereosinophilic Syndrome |
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Colitis, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly, Myeloproliferative dis... |
ORPHA:3260 |
Late-Onset Isolated Acth Deficiency |
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Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Pituitary adenoma, Hepatitis, Hashimo... |
ORPHA:199299 |
Kawasaki Disease |
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Cheilitis, Conjunctivitis, Skin rash, Myocarditis, Cholecystitis, Arthritis, Hepatitis, Pericardi... |
ORPHA:2331 |
Acute Disseminated Encephalomyelitis |
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Myelitis, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis |
ORPHA:83597 |
Aicardi-Goutieres Syndrome 7 |
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Hepatomegaly, Skin rash, Splenomegaly, Atopic dermatitis, Chilblains, Arthritis, Hepatitis, Pneum... |
OMIM:615846 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Hypoparathyroidism, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhos... |
ORPHA:231222 |
Primary Sjögren Syndrome |
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Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Lymphoproliferative... |
ORPHA:289390 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Uterine neoplasm, Multiple gastric polyps, Breast carcinoma, Ovarian cy... |
OMIM:175200 |
Immunodeficiency 82 With Systemic Inflammation |
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Crohn's disease, B-cell lymphoma, Colitis, Gastritis, Osteomyelitis, Skin rash, Splenomegaly, Rec... |
OMIM:619381 |
Sialuria |
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Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly |
ORPHA:3166 |
Glycogen Storage Disease Xii |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Increased circulating lactate dehydrog... |
OMIM:611881 |
Myotonic Dystrophy 1 |
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Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Generalized Pseudohypoaldosteronism Type 1 |
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Cholelithiasis, Atopic dermatitis, Osteomyelitis, Pustule |
ORPHA:171876 |
Postinfectious Vasculitis |
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Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Viral hepatitis, Membrano... |
ORPHA:48435 |
Leptospirosis |
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Optic neuritis, Hepatomegaly, Skin rash, Hepatitis, Uveitis, Elevated serum transaminases during ... |
ORPHA:509 |
Acute Liver Failure |
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Hepatocellular necrosis, Skin rash, Elevated hepatic transaminase, Hepatitis, Hepatic periportal ... |
ORPHA:90062 |
Hereditary Spherocytosis |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Gout, Jaundice |
ORPHA:822 |
Occipital Horn Syndrome |
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Exostoses, Cholestasis, Hepatitis, Esophagitis, Jaundice |
ORPHA:198 |
Gaucher Disease |
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Osteomyelitis, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoarthritis, Hepatitis |
ORPHA:355 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Cholelithiasis, Elevated hepatic transaminase, Hepatic failure |
OMIM:614886 |
Hereditary Elliptocytosis |
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Cholelithiasis, Jaundice, Splenomegaly, Prolonged neonatal jaundice |
ORPHA:288 |
Sickle Cell Anemia |
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Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:603903 |
Hereditary Hemorrhagic Telangiectasia |
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Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Intestinal polyposis, Portal hypertens... |
ORPHA:774 |
Triosephosphate Isomerase Deficiency |
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Cholelithiasis, Splenomegaly, Cholecystitis, Prolonged neonatal jaundice, Jaundice |
OMIM:615512 |
Cimdag Syndrome |
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Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Dehydrated Hereditary Stomatocytosis |
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Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Intermittent jaundice,... |
ORPHA:3202 |
Trichohepatoneurodevelopmental Syndrome |
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Cholelithiasis, Decreased liver function, Hepatomegaly, Elevated circulating alkaline phosphatase... |
OMIM:618268 |
Metachromatic Leukodystrophy |
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Abnormal gallbladder morphology, Hemobilia, Abnormal enzyme/coenzyme activity, Neoplasm of the ga... |
ORPHA:512 |
Distal Trisomy 5Q |
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Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Eczema |
ORPHA:96097 |
X-Linked Lymphoproliferative Disease |
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Decreased liver function, Burkitt lymphoma, Colitis, B-cell lymphoma, Nephritis, Splenomegaly, He... |
ORPHA:2442 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Cholelithiasis, Cryptorchidism, Decreased testicular size |
OMIM:300534 |
Lujo Hemorrhagic Fever |
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Skin rash, Maculopapular exanthema, Fulminant hepatitis, Myocarditis, Increased circulating lacta... |
ORPHA:319213 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Cholelithiasis |
OMIM:618775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media |
OMIM:301066 |
Lathosterolosis |
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Elevated circulating alkaline phosphatase concentration, Hepatosplenomegaly, Elevated hepatic tra... |
OMIM:607330 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Hepa... |
ORPHA:77293 |
Alström Syndrome |
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Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Otitis media, Hyoplasia o... |
ORPHA:64 |
8P Inverted Duplication/Deletion Syndrome |
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Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96092 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Cyst of the ductus choledochus |
OMIM:619480 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Cholelithiasis, Recurrent pneumonia |
ORPHA:464738 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis |
OMIM:213700 |
Porphyria, Congenital Erythropoietic |
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Cholelithiasis, Conjunctivitis, Splenomegaly |
OMIM:263700 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Nephroblastoma, Medulloblastoma |
ORPHA:97297 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Neoplasm, Cyst of the ductus choledochus, Hypoplastic nipples |
ORPHA:480880 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... |
ORPHA:273 |
Trisomy 8P |
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Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism, Neuroblastoma |
ORPHA:264450 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cholelithiasis, Bacterial endocarditis, Splenomegaly, Hepatosplenomegaly, Abnormality of the sple... |
ORPHA:2072 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Exocrine pancreatic insufficiency, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Ap... |
ORPHA:2255 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Hypoparathyroidism, Splenomegaly, Hypoplasia of the thymus, Chronic otitis media,... |
ORPHA:567 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Abnormal enzyme/coenzyme activity, Prolonged neonatal jaundice |
ORPHA:909 |
Digeorge Syndrome |
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Hydrocele testis, Cholelithiasis, Recurrent otitis media, Splenomegaly, Ovarian cyst, Hypoplasia ... |
OMIM:188400 |
Williams Syndrome |
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Cholelithiasis, Polycystic ovaries, Cryptorchidism, Chronic otitis media |
ORPHA:904 |
Peters-Plus Syndrome |
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Cryptorchidism, Bilobate gallbladder, Biliary tract abnormality |
OMIM:261540 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
|
OMIM:617308 |