Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Gallbladder Disease 1 |
|
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... |
OMIM:600803 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis |
OMIM:114550 |
Low Phospholipid-Associated Cholelithiasis |
|
Hepatocellular carcinoma, Cholangitis, Liver abscess, Neoplasm of the liver, Intrahepatic cholest... |
ORPHA:69663 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase |
OMIM:300752 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reduced haptoglobin level, Hepatomegaly, Unconj... |
OMIM:266200 |
Biliary Atresia, Extrahepatic |
|
Jaundice, Extrahepatic biliary duct atresia, Bile duct proliferation, Atretic gallbladder, Hepato... |
OMIM:210500 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Pigment gallstones, Decreased glucosephosphate isomerase level, Cholecystitis, Cholelit... |
OMIM:613470 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Hyperbilirubinemia, Cholecystitis, Cholelithiasis, Splenomegaly |
OMIM:235700 |
Klatskin Tumor |
|
Extrahepatic cholestasis, Jaundice, Hepatomegaly, Cholangiocarcinoma |
ORPHA:99978 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration |
OMIM:614156 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Ch... |
OMIM:619662 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Cholestatic liver disease, Elevated hepatic transaminase |
OMIM:602114 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasi... |
ORPHA:100086 |
Gracile Syndrome |
|
Cholestasis, Increased serum iron, Increased serum pyruvate, Increased circulating ferritin conce... |
OMIM:603358 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, E... |
OMIM:602347 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... |
ORPHA:562639 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Elevated circula... |
OMIM:605479 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:620010 |
Glycogen Storage Disease Xii |
|
Jaundice, Reduced haptoglobin level, Muscle fiber splitting, Myopathy, Elevated circulating alani... |
OMIM:611881 |
Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cirrhosis, Decreased liver function, Cholelithiasis... |
ORPHA:79278 |
Benign Recurrent Intrahepatic Cholestasis |
|
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... |
ORPHA:65682 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Chol... |
ORPHA:79302 |
Nephronophthisis 19 |
|
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... |
OMIM:616217 |
Mirizzi Syndrome |
|
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Elevated ... |
ORPHA:521219 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Elevated circulating aspartate aminotransferase concentration, Intra... |
OMIM:613812 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly |
OMIM:224100 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas |
ORPHA:3032 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:260370 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Cholelithiasis, Hepatic failure, Eczema |
OMIM:177000 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic bri... |
OMIM:619658 |
Galactose Mutarotase Deficiency |
|
Cholestasis, Hypergalactosemia, Hepatomegaly, Abnormal circulating enzyme concentration or activi... |
ORPHA:570422 |
Budd-Chiari Syndrome |
|
Peritonitis, Acute hepatic failure, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Cirrho... |
ORPHA:131 |
Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hypertriglycerid... |
OMIM:613027 |
Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
Ppoma |
|
Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi... |
ORPHA:97278 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice |
OMIM:237500 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... |
OMIM:616828 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
Caroli Syndrome |
|
Cholangitis, Jaundice, Liver abscess, Intrahepatic cholestasis, Pancreatitis, Abnormality of the ... |
ORPHA:480520 |
Glycogen Storage Disease Vii |
|
Jaundice, Gout, Hyperuricemia, Increased circulating lactate dehydrogenase concentration, Increas... |
OMIM:232800 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Rhabdomyolysis, Cholestatic liver disease, Elevated hepatic transaminase, Elevated circulating cr... |
ORPHA:79095 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Jaundice, Skin rash, Elevated hepatic transaminase, Hyperbil... |
ORPHA:69665 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Conjugated hy... |
OMIM:211600 |
Disorder Of Bile Acid Synthesis |
|
Biliary tract abnormality, Cholestasis, Elevated hepatic transaminase, Abnormality of the liver |
ORPHA:79168 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
Parenteral Nutrition-Associated Cholestasis |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Conjugated hy... |
ORPHA:567983 |
Alpha-Thalassemia |
|
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly |
ORPHA:846 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Death in adolescence, Myopathy, Skeletal muscle atrophy, Death in infancy, Prolonged ne... |
OMIM:615512 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Cirrhosis, Increased serum iron, Incr... |
OMIM:231100 |
Grfoma |
|
Elevated circulating growth hormone concentration, Intermittent jaundice, Intrahepatic cholestasi... |
ORPHA:97261 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Unconjugated hy... |
ORPHA:79234 |
Familial Pancreatic Carcinoma |
|
Hepatosplenomegaly, Jaundice, Neoplasm of the liver, Elevated hepatic transaminase, Ovarian carci... |
ORPHA:1333 |
Somatostatinoma |
|
Gallbladder dysfunction, Elevated circulating growth hormone concentration, Intermittent jaundice... |
ORPHA:97283 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Shoulder girdle muscle weakness, Myopathy, Hand muscle weakness, Hepatomega... |
ORPHA:98908 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Stomatitis |
ORPHA:438274 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619868 |
Gracile Syndrome |
|
Death in early adulthood, Cholestasis, Decreased transferrin saturation, Cirrhosis, Increased cir... |
ORPHA:53693 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Colitis, Hepatomegaly, Hepatitis, Acne, Recurrent skin infec... |
OMIM:300635 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Splenomegaly |
ORPHA:848 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Erysipelas, Hepatomegaly, Elevated hepatic transami... |
OMIM:214900 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Cholestasis, Cholesterol gallstones, Hepatitis, Hypertri... |
ORPHA:209902 |
Isolated Biliary Atresia |
|
Hypopituitarism, Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegal... |
ORPHA:30391 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Hepatomegaly, Hepatitis, Increased circulating ferritin concentration, Cholelithiasis, ... |
OMIM:194380 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated h... |
ORPHA:79301 |
Caroli Disease |
|
Cholangitis, Jaundice, Liver abscess, Intrahepatic cholestasis, Cholestasis, Elevated circulating... |
ORPHA:53035 |
Cholangiocarcinoma |
|
Jaundice, Biliary tract neoplasm, Acholic stools |
ORPHA:70567 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly |
OMIM:182900 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Cir... |
OMIM:607765 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:618528 |
Lambert Syndrome |
|
Cholestasis, Jaundice, Intrahepatic biliary atresia |
ORPHA:1296 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic t... |
ORPHA:79303 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Increased circulating renin level, Hyperkalemia, Glucocortocoid-insensitive pr... |
ORPHA:171876 |
Rett Syndrome |
|
Increased serum pyruvate, Cholecystitis, Hyperammonemia, Skeletal muscle atrophy |
ORPHA:778 |
Vipoma |
|
Elevated circulating growth hormone concentration, Intermittent jaundice, Neoplasm of the liver, ... |
ORPHA:97282 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Hyperammonemia, Pancreatitis, Elevated circulating alanine aminotransfe... |
OMIM:603471 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Glucagonoma |
|
Elevated circulating growth hormone concentration, Intermittent jaundice, Stomatitis, Intrahepati... |
ORPHA:97280 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... |
OMIM:607626 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... |
ORPHA:565899 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Chronic sinusitis, Atopic dermatitis, Liver abscess, Skin rash, Arthritis, Recurrent... |
ORPHA:183675 |
Amyloidosis, Familial Visceral |
|
Cholestasis, Hepatomegaly, Splenomegaly, Skin rash |
OMIM:105200 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis, Recurrent sinusitis |
OMIM:614379 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Dietary Iron Overload Disease |
|
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... |
ORPHA:139507 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Cholestasis, Hepatomegaly, Fulminant hepatic failure |
OMIM:609060 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Splenomegaly |
ORPHA:444463 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Death in childhood, Jaundice, Hyperammonemia, Cholestasis, Hepatic bridgin... |
OMIM:618641 |
Zollinger-Ellison Syndrome |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Jaundice, Pi... |
ORPHA:913 |
Q Fever |
|
Hepatosplenomegaly, Myocarditis, Maculopapular exanthema, Endocarditis, Abnormality of the liver,... |
ORPHA:781 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemi... |
ORPHA:276152 |
Hereditary Hemorrhagic Telangiectasia |
|
Cirrhosis, Portal hypertension, Cholecystitis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Biliary cirrhosis, Asplenia, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly... |
OMIM:208540 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Death in infanc... |
OMIM:613404 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Sickle Cell Anemia |
|
Pigment gallstones, Cholestasis, Increased circulating lactate dehydrogenase concentration, Uncon... |
ORPHA:232 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Cholestasis, Elevated circulating alanine aminotransferase concentration, Skeletal muscle atrophy... |
OMIM:614300 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Hepatome... |
OMIM:214950 |
Nephronophthisis 18 |
|
Cholestasis, Portal fibrosis, Tubulointerstitial nephritis |
OMIM:615862 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Facial diplegia |
OMIM:160900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Jaundice, Cholestatic liver disease, Elevated hepatic transaminase, Death in infancy, Conjugated ... |
OMIM:208085 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Hepatic bridging fibrosis, Elevated circulating alanine aminotransferase conc... |
OMIM:613759 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase |
ORPHA:100077 |
Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Chronic hepatitis, Decreased circula... |
ORPHA:101330 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Biliary atresia, Absent gallbladder, Annu... |
OMIM:615710 |
Sialuria |
|
Hepatosplenomegaly, Cholelithiasis, Hepatomegaly, Elevated hepatic transaminase |
ORPHA:3166 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Hashimoto thyroiditis, Abnormality of the ductus choledochus, Hepatitis... |
ORPHA:436252 |
Immunodeficiency 56 |
|
Cholangitis, Hepatic failure, Cirrhosis, Recurrent otitis media, Recurrent pneumonia, Bronchiecta... |
OMIM:615207 |
Listeriosis |
|
Peritonitis, Myocarditis, Jaundice, Hepatic granulomatosis, Miscarriage, Liver abscess, Endocardi... |
ORPHA:533 |
Duodenal Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Intrahepatic cholestasis with episodic jaundic... |
ORPHA:100076 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Abnormality of the liver, Hypoparathyroid... |
ORPHA:231222 |
Gaisböck Syndrome |
|
Increased circulating renin level, Gout, Hyperuricemia, Hypercholesterolemia, Hyperproteinemia, H... |
ORPHA:90041 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Cholestasis, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pitu... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Cholestasis, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pitu... |
ORPHA:71526 |
Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Cholestasis, Bile duct proliferation, Right ventricular hypertrophy, Portal h... |
OMIM:267010 |
Cimdag Syndrome |
|
Death in early adulthood, Cholelithiasis, Hepatomegaly, Microvesicular hepatic steatosis |
OMIM:619273 |
Hereditary Spherocytosis |
|
Jaundice, Maculopapular exanthema, Gout, Hepatomegaly, Hyperbilirubinemia, Cholelithiasis, Spleno... |
ORPHA:822 |
Dehydrated Hereditary Stomatocytosis |
|
Abnormal blood potassium concentration, Intermittent jaundice, Increased circulating lactate dehy... |
ORPHA:3202 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Meckel Syndrome, Type 6 |
|
Bile duct proliferation, Hepatic fibrosis, Absent gallbladder, Cystic liver disease, Hepatic cysts |
OMIM:612284 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil... |
OMIM:614886 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Elevated circulating creatine kinase concentration |
OMIM:618775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatosplenomegaly, Hepatomegaly, Recurrent otitis media, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Glomerulonephriti... |
ORPHA:2137 |
Hereditary Elliptocytosis |
|
Jaundice, Prolonged neonatal jaundice, Hyperbilirubinemia, Cholelithiasis, Neonatal hyperbilirubi... |
ORPHA:288 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Hyperalaninemia, Elevated hepatic transaminase, Decreased liver function... |
OMIM:618329 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating creatine kinase concentratio... |
OMIM:611182 |
Macrophage Activation Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
ORPHA:158061 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Jaundice, Hashimoto thyroiditis, Fulminant hepatitis, Hepatomegaly, Elevated hepatic transaminase... |
OMIM:618549 |
Mednik Syndrome |
|
Death in childhood, Increased circulating very long-chain fatty acid concentration, Cholestasis, ... |
OMIM:609313 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc... |
ORPHA:64743 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice, Abnormality of the liver, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
Primary Biliary Cholangitis |
|
Hepatocellular carcinoma, Gastrointestinal inflammation, Jaundice, Abnormal circulating lipid con... |
ORPHA:186 |
North American Indian Childhood Cirrhosis |
|
Portal hypertension, Prolonged neonatal jaundice, Biliary cirrhosis |
OMIM:604901 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Camptodactyly, Cryptorchidism, Cholestasis, Death in infancy, Hepatomegaly, Neonatal death, Decre... |
OMIM:608104 |
Wilson Disease |
|
Acute hepatic failure, Acute hepatitis, Jaundice, Proximal muscle weakness in lower limbs, Hepato... |
ORPHA:905 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Rhabdomyolysis, Increased sarcoplasmic glycogen, Abnormal erythrocyte e... |
ORPHA:370 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Cholestatic liver disease, Intestinal inflammation, Hepatic fibrosis, Chilbla... |
OMIM:619858 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hyperkalemia, Hepatitis, Hyponatremia, Decreased circulating cortiso... |
ORPHA:199296 |
Enteric Anendocrinosis |
|
Portal hypertension, Cholestatic liver disease |
ORPHA:83620 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Isolated Sedoheptulokinase Deficiency |
|
Diastasis recti, Cholestatic liver disease, Cholestasis, Steatorrhea, Hepatitis, Portal hypertens... |
ORPHA:440713 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Decreased response to growth hormone stimulati... |
OMIM:609734 |
Nephronophthisis 16 |
|
Cholestasis, Periportal fibrosis |
OMIM:615382 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatomegaly, Abnormal biliary tract morphology, Cholelithiasis, Hepatosplenomegaly,... |
ORPHA:171 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Portal fibrosis, Hyperbi... |
OMIM:616278 |
Kawasaki Disease |
|
Myocarditis, Jaundice, Skin rash, Cheilitis, Arthritis, Hepatitis, Cholecystitis, Conjunctivitis,... |
ORPHA:2331 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Colitis, Infectious encephalitis, Viral hepatitis, Chroni... |
OMIM:209920 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Limb hypertonia, Hyperalaninemia, Neonatal death, Hyperprolinemia, Hepatic steatosis |
OMIM:615918 |
Familial Atrial Myxoma |
|
Cholestasis, Jaundice, Bacterial endocarditis |
ORPHA:615 |
Senior-Loken Syndrome 9 |
|
Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis |
OMIM:616629 |
Cerebrotendinous Xanthomatosis |
|
Lower limb muscle weakness, Tendon xanthomatosis, Abnormal circulating cholesterol concentration,... |
OMIM:213700 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stillbirth, Hepatic cysts, Malformation of... |
OMIM:615415 |
Sickle Cell Disease |
|
Jaundice, Splenic infarction, Hepatomegaly, Cholelithiasis, Splenomegaly |
OMIM:603903 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Adult-Onset Still Disease |
|
Myocarditis, Abnormal circulating lipid concentration, Skin rash, Hepatomegaly, Elevated hepatic ... |
ORPHA:829 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Neonatal death |
OMIM:614870 |
Trichohepatoenteric Syndrome 2 |
|
Chronic hepatitis, Hepatomegaly, Colitis, Cirrhosis, Decreased serum iron |
OMIM:614602 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Elevated hepatic transaminase, Pancreatic aplasia |
ORPHA:261265 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Keratoconjunctivitis, Asplenia, Chronic active hepatitis, Hypoparathyroidism, Chronic oral candid... |
OMIM:240300 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, My... |
OMIM:609015 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Jaundice, Cholestasis, Hypertyrosinemia, Elevated hepatic transaminase, Death in infancy, Cirrhos... |
OMIM:617156 |
Igg4-Related Kidney Disease |
|
Chronic sinusitis, Inflammatory abnormality of the skin, Abnormality of mesentery morphology, Dec... |
ORPHA:449395 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Abnormal liver function tests ... |
OMIM:147480 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Nephritis, Bile duct proliferation, Hepatic fibrosis, Death in infancy, Conjugated hype... |
OMIM:208500 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Jaundice, Increased serum bile acid concentration... |
OMIM:614972 |
Inflammatory Pseudotumor Of The Liver |
|
Biliary tract abnormality, Abnormal liver sonography, Elevated circulating aspartate aminotransfe... |
ORPHA:90003 |
Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Abnormality of the diaphragm,... |
ORPHA:400 |
Congenital Enterovirus Infection |
|
Myocarditis, Hyperammonemia, Skin rash, Cholestasis, Hepatitis, Infectious encephalitis, Hepatic ... |
ORPHA:292 |
Cirrhosis, Familial |
|
Jaundice, Fulminant hepatitis, Cirrhosis, Micronodular cirrhosis, Biliary cirrhosis, Increased le... |
OMIM:215600 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis |
OMIM:618955 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function |
OMIM:238970 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... |
ORPHA:247598 |
Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Elevated circulating aspartate aminotransferase concentration, Chronic hepatitis,... |
OMIM:614921 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Hyper... |
ORPHA:264580 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Cholestasis, Hepatomegaly, Elevated hepatic transaminase, Ci... |
OMIM:614576 |
Argininemia |
|
Hyperammonemia, Cholestasis, Hepatomegaly, Portal fibrosis, Hyperargininemia, Micronodular cirrhosis |
OMIM:207800 |
Avian Influenza |
|
Rhabdomyolysis, Miscarriage, Elevated hepatic transaminase, Increased circulating lactate dehydro... |
ORPHA:454836 |
Griscelli Syndrome |
|
Jaundice, Abnormal circulating lipid concentration, Hepatomegaly, Hepatitis, Splenomegaly |
ORPHA:381 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Death in childhood, Intermittent jaundice, Intrahepatic cholestasis, He... |
OMIM:601847 |
Distal Duplication 5Q |
|
Eczema, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Metachromatic Leukodystrophy |
|
Hemobilia, Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology... |
ORPHA:512 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:615630 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Jaundice, Increased circulating very long-chain fatty acid concentration, Elevated circulating as... |
OMIM:614887 |
Autosomal Agammaglobulinemia |
|
Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron... |
ORPHA:33110 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Acute hepatitis, Jaundice, Gastrointestinal inflammation, Inflammatory abnorm... |
ORPHA:39812 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Morbilliform rash, Jaundice, Orchitis, Hepatomegaly, Increased circulating lactate d... |
ORPHA:99827 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... |
ORPHA:66628 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperthreoninemia, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase conce... |
OMIM:605814 |
Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... |
OMIM:611548 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Cholangitis, Jaundice, Cholestasis, Congenital hepatic fibrosis, Hepatic fibr... |
ORPHA:731 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Chronic hepatitis, Hepatomegaly, Enteroviral encephalitis, Cirrhosis, Splenomegaly, H... |
OMIM:308230 |
D-Bifunctional Protein Deficiency |
|
Increased circulating very long-chain fatty acid concentration, Cholestasis, Decreased muscle mas... |
OMIM:261515 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Decreased testicular size, Cryptorchidism, Lower limb hypertonia, F... |
OMIM:300534 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Cholestasis, Hepatic fibrosis, Elevated hepatic transaminase, Esophagitis, He... |
ORPHA:541423 |
Interstitial Lung And Liver Disease |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Eleva... |
OMIM:615486 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Chronic oral candidiasis, Hepatitis, Recurrent pneumonia, Pneumonia, Otitis m... |
ORPHA:169160 |
Neonatal Lupus Erythematosus |
|
Malar rash, Maculopapular exanthema, Abnormality of the liver, Cholestasis, Skin rash, Hepatomega... |
ORPHA:398124 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Hepatitis, Sin... |
ORPHA:47 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Elevated circulati... |
OMIM:610199 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Elevated circulating aspartate aminotransferase concentration, Cholestasis,... |
OMIM:300972 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated circulating ... |
OMIM:614924 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... |
ORPHA:179494 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Pancreatic aplasia, Elevated circulating alanine aminotransferase concentrati... |
OMIM:618500 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Splenomegaly, Vira... |
ORPHA:91138 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology |
ORPHA:2470 |
Reynolds Syndrome |
|
Jaundice, Calcinosis, Cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Hype... |
OMIM:613471 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Cholestatic liver disease, Maculopapular exanthema, Skin rash, Hepatomegaly, Elevated h... |
ORPHA:540 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Inflammation of the large intestine, Cholestasis, Hepatic fibrosis, Hepatomegaly... |
OMIM:615895 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Cholangitis, Jaundice, Pyelonephritis, Cholestasis, Portal inflammation, Bile... |
OMIM:301068 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Hyp... |
OMIM:235555 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatosplenomegaly, Acute hepatic failure, Cholangitis, Camptodactyly, Cirrhosis, Hepatitis, Port... |
ORPHA:228426 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Nodular goiter |
ORPHA:1332 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Osteootohepatoenteric Syndrome |
|
Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Hypokalemia, Portal fibrosis, Increas... |
OMIM:619377 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Neoplasm of th... |
ORPHA:77293 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease |
OMIM:610205 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegal... |
OMIM:243300 |
Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Cholestasis, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepa... |
ORPHA:84081 |
Aa Amyloidosis |
|
Cholestasis, Hepatomegaly |
ORPHA:85445 |
Genitopalatocardiac Syndrome |
|
Abnormality of the gallbladder, Abnormality of mesentery morphology, Cryptorchidism, Congenital d... |
ORPHA:2075 |
Legionnaires Disease |
|
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Hyponatremia, Hepatitis, Infectious encephalit... |
ORPHA:549 |
Fucosidosis |
|
Decreased muscle mass, Abnormality of the gallbladder, Hepatomegaly |
ORPHA:349 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Elevated hepatic transaminase, Periportal fibrosis, Conjugated hyperbil... |
OMIM:619484 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Skin rash, Decreased circulating beta-2-microglobulin level, Sinusitis, Rhini... |
ORPHA:572 |
Porphyria, Congenital Erythropoietic |
|
Jaundice, Hepatomegaly, Joint contracture of the hand, Cholelithiasis, Conjunctivitis, Splenomegaly |
OMIM:263700 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Triploidy |
|
Macroglossia, Cryptorchidism, Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallb... |
ORPHA:3376 |
Secondary Short Bowel Syndrome |
|
Abnormal blood ion concentration, Cholestasis, Steatorrhea, Low plasma citrulline, Enterocolitis |
ORPHA:95427 |
Melioidosis |
|
Liver abscess, Abnormal parotid gland morphology, Osteoarthritis, Parotitis, Hepatitis, Septic ar... |
ORPHA:31202 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Keratoconjunctivitis, Asplenia, Chronic hepatitis, Steatorrhea, Chronic mucocutaneous candidiasis... |
OMIM:269200 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cholestatic liver disease, Hepatomegaly |
ORPHA:5 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Small hypothenar eminence, Contractures of... |
ORPHA:96092 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Enlarged polyc... |
ORPHA:2869 |
Trichohepatoneurodevelopmental Syndrome |
|
Macroglossia, Recurrent pancreatitis, Distal arthrogryposis, Hypoplastic nipples, Steatorrhea, He... |
OMIM:618268 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Anterior pituitary agenesis, Biliar... |
ORPHA:2255 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Jaundice, Bile duct proliferation, Hepatomegaly, Elevated hepatic transami... |
OMIM:203700 |
Mccune-Albright Syndrome |
|
Goiter, Elevated circulating growth hormone concentration, Hypophosphatemia, Hepatocellular adeno... |
ORPHA:562 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Diffuse hepatic steatosis, Left ventricular hypertrophy, Cholestasis, Hypoparathy... |
ORPHA:746 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Myocarditis, Tubulointerstitial nephritis, Skin rash, Elevated hepatic tra... |
ORPHA:139402 |
Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... |
OMIM:619834 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia, Congenital diaphragmatic hernia |
ORPHA:1335 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormal liver parenchyma morphology, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperecho... |
ORPHA:456312 |
Kennedy Disease |
|
Abnormal circulating lipid concentration, Testicular atrophy, Decreased fertility, Erectile dysfu... |
ORPHA:481 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cholestasis, Bile duct proliferation, Elevated hepatic transaminase, Cirrhosis, Unconjugated hype... |
OMIM:613658 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Hepatomegaly, Cryptorchidism, Neonatal death |
OMIM:613730 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... |
ORPHA:171851 |
Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Myositis, Arthritis, Elevated circulatin... |
ORPHA:36234 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Hepatocellular carcinoma, Intrahepatic cholestasis, Cirrhosis, Portal hypertension, Hepatic failure |
OMIM:615878 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
Donohue Syndrome |
|
Cholestasis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Skeletal muscle atrophy, Ovaria... |
OMIM:246200 |
Wilson Disease |
|
Hypouricemia, Hypoparathyroidism, Hepatomegaly, Osteoarthritis, Acute hepatic failure, Elevated c... |
OMIM:277900 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Annular pancreas, Asplenia |
ORPHA:210122 |
Alstrom Syndrome |
|
Hyperuricemia, Chronic active hepatitis, Tubulointerstitial nephritis, Multinodular goiter, Hepat... |
OMIM:203800 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... |
OMIM:619203 |
Microsporidiosis |
|
Peritonitis, Myocarditis, Abnormality of the spleen, Endocarditis, Lymphadenitis, Sinusitis, Kera... |
ORPHA:2552 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Elevated circulating aspartate aminotr... |
OMIM:256810 |
Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Abnormal circulating lipid concentration, Acne |
ORPHA:3191 |
Autoimmune Polyendocrinopathy Type 4 |
|
Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubulointerstitial nephritis, Keratoconj... |
ORPHA:227990 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Autoimmune Polyendocrinopathy Type 3 |
|
Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubulointerstitial nephritis, Keratoconj... |
ORPHA:227982 |
Lathosterolosis |
|
Hepatosplenomegaly, Intrahepatic cholestasis, Elevated hepatic transaminase, Hyperbilirubinemia, ... |
OMIM:607330 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Hypopituitarism, Chronic hepatitis, Hypop... |
ORPHA:231226 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... |
ORPHA:168563 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Left ventricular hypertrophy, Cholestasis, Bile duct proliferation, Hepatomegaly, El... |
OMIM:613610 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Arthritis, Hepatitis, Eczema, Erythroderma |
OMIM:304790 |
Aspergillosis |
|
Hepatitis, Sinusitis, Infectious encephalitis, Bronchiectasis, Osteomyelitis, Pneumonia, Keratitis |
ORPHA:1163 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Hepatomegaly, Infectious encephalitis, Elevated circulating C-reactive prote... |
OMIM:308240 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... |
ORPHA:37042 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
OMIM:614841 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619525 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Torticollis, Unilateral facial palsy |
OMIM:619480 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Camptodactyly, Hashimoto thyroiditis, Hepatomegaly, Hepatitis, Portal hypertension, Hypersplenism... |
OMIM:613385 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Abnormal circulating citrulline concentration, Hepatomegaly, Elevated hepatic tra... |
ORPHA:415 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Neoplasm of the liver, Biliary tract obstruction, Intrahepatic cholestasis... |
ORPHA:100085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Rhabdomyolysis, Tubulointerstitial nephritis, Cholestasis, Hypertyrosinemia, Elevate... |
OMIM:124000 |
Rift Valley Fever |
|
Miscarriage, Jaundice, Skin rash, Uveitis, Elevated hepatic transaminase, Hepatitis, Infectious e... |
ORPHA:319251 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Liver Disease, Severe Congenital |
|
Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Hepatomegaly,... |
OMIM:619991 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Hepatomegaly, Splenomegaly |
OMIM:610539 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Hypocalcemia |
OMIM:300712 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Neonatal death, Decreased l... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Neonatal death, Decreased l... |
OMIM:618839 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:615723 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Recurrent pneumonia, Contracture of the proximal interphalangeal joint of the 3rd... |
ORPHA:464738 |
Alagille Syndrome |
|
Cholestasis, Reduced number of intrahepatic bile ducts, Hepatomegaly, Cryptorchidism |
ORPHA:52 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries, Abnormal circulating lipid concentration, Hepatic steatosis |
OMIM:608709 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Jaundice, Cryptorchidism, Elevated circulating phytanic acid concentration, D... |
OMIM:614866 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Elevated hepatic transaminase, Abnormality of exocrine pancreas physiology, Hepatic ste... |
ORPHA:93111 |
Shigellosis |
|
Peritonitis, Myocarditis, Abnormal blood ion concentration, Rhabdomyolysis, Cholestasis, Acute co... |
ORPHA:810 |
Fetal Gaucher Disease |
|
Death in infancy, Hepatomegaly, Neonatal death, Stillbirth, Abnormality of the spleen, Flexion co... |
ORPHA:85212 |
Congenital Tufting Enteropathy |
|
Steatorrhea, Cholestatic liver disease, Arthritis, Punctate keratitis |
ORPHA:92050 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating creatine kinase... |
OMIM:615980 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia |
OMIM:615272 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Superficial dermal perivascular inflammatory infiltrate, Cryptorchidism, C... |
ORPHA:83617 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hashimoto thyroiditis, Hypoparathyroidism, Decreased circulating cortisol level, H... |
ORPHA:199299 |
Ebola Hemorrhagic Fever |
|
Hepatitis, Acute pancreatitis, Maculopapular exanthema |
ORPHA:319218 |
Nephronophthisis 13 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:614377 |
Myasthenia Gravis |
|
Hepatitis, Myositis, Rheumatoid arthritis, Hashimoto thyroiditis |
ORPHA:589 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in childhood, Interface hepatitis, Hypoplasia of the thymus, Death in infancy, Psoriasiform... |
OMIM:243150 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Cheilitis, Skin rash |
ORPHA:1334 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, C... |
OMIM:618999 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hepatomegaly, Prolonged neonatal jaundice, Conjugated hyperbilirubinemia, Elevated c... |
OMIM:619534 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating aspartate aminotransferase concentration, Steatorrhea, Elevated circulating ... |
OMIM:615558 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Sinusitis, Recurren... |
OMIM:307200 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Neonatal death |
OMIM:617925 |
Bohring-Opitz Syndrome |
|
Bilateral wrist flexion contracture, Lower limb hypertonia, Congenital contracture, Cholelithiasi... |
ORPHA:97297 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia |
ORPHA:163979 |
Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... |
OMIM:615300 |
Trichohepatoenteric Syndrome 1 |
|
Jaundice, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hypermethioninemia, Cirrhosis, Increased s... |
OMIM:222470 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Splenomegaly |
ORPHA:584 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Weakness of facial musculature, Hepatomegaly, Prolonged neonatal jaund... |
OMIM:619418 |
Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Cryptorchidism, Abnormality of t... |
ORPHA:887 |
Irida Syndrome |
|
Decreased circulating copper concentration, Intrahepatic cholestasis |
ORPHA:209981 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Rhabdomyolysis, Decreased liver function, Neonatal death |
OMIM:602199 |
46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Primary amenorrhea, Decrea... |
ORPHA:243 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... |
OMIM:618841 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic otitis media, Eczematoid dermatitis, Hypocalcemic tetany, Atypical or prolonged hepatitis... |
ORPHA:83471 |
Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Cholestasis, Recurrent otitis media, Bronchiectasis, Hepatomegaly |
OMIM:620233 |
Immunodeficiency 87 And Autoimmunity |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:619573 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Death in childhood, Hypoplasia of the thymus, Jaundice, Cryptorchidism, Camptodactyly, Hepatomega... |
OMIM:214110 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Multiple joint contractures, Annular pancreas |
ORPHA:264450 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Cryptorchidism, Asplenia, Bile duct proliferation, Accessory spleen, Spl... |
OMIM:249000 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypocholesterolemia, Hepatomegaly, Neonatal death |
OMIM:618810 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatosplenomegaly, Bacterial endocarditis, Hepatic fibrosis, Abnormality of the spleen, Cholelit... |
ORPHA:2072 |
Leptospirosis |
|
Rhabdomyolysis, Jaundice, Optic neuritis, Skin rash, Uveitis, Hyperproteinemia, Hepatomegaly, Hep... |
ORPHA:509 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Skin rash, Limb hypertonia, Hepatomegaly, Arthritis, Hepatitis, Chilblains, At... |
OMIM:615846 |
Cerebrotendinous Xanthomatosis |
|
Tendon xanthomatosis, Abnormality of the Achilles tendon, Distal amyotrophy, Prolonged neonatal j... |
ORPHA:909 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Spondyloenchondrodysplasia |
|
Skin rash, Juvenile rheumatoid arthritis, Decreased response to growth hormone stimulation test, ... |
ORPHA:1855 |
Trisomy 10P |
|
Decreased muscle mass, Absent gallbladder, Camptodactyly |
ORPHA:171929 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Myopathy, Death in infancy, Hepatomegaly, Neonatal death, Stillbirth, Hepatic... |
OMIM:614922 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Cholestasis, Elevated hepatic transaminase, Prolonged neonatal jaundice... |
OMIM:118450 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic acid concentration, ... |
OMIM:618156 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Skin rash, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinem... |
ORPHA:79284 |
Steinert Myotonic Dystrophy |
|
Secondary hyperparathyroidism, Testicular atrophy, Shoulder girdle muscle weakness, Facial dipleg... |
ORPHA:273 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Acute Disseminated Encephalomyelitis |
|
Myelitis, Optic neuritis, Viral hepatitis, Herpes simplex encephalitis |
ORPHA:83597 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Frasier Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, G... |
ORPHA:347 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Cholangitis, Inflammatory abnormality of the skin, Chronic hepatitis, Pancrea... |
ORPHA:3260 |
Relapsing Polychondritis |
|
Myocarditis, Keratitis, Chondritis, Recurrent aphthous stomatitis, Scleritis, Uveitis, Arthritis,... |
ORPHA:728 |
Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Glomerulonephritis, Inflammatory abnormality of the skin, Orchitis... |
ORPHA:48435 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Aplasia of the left hemidiaphragm, Biliary atresia, Congenital diaphragmat... |
OMIM:600001 |
Gaucher Disease |
|
Death in infancy, Hepatomegaly, Cirrhosis, Osteoarthritis, Hepatitis, Osteomyelitis, Elevated cir... |
ORPHA:355 |
Mody |
|
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency |
ORPHA:552 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... |
ORPHA:2235 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Recurrent otitis media, Recurrent pneumonia, Inf... |
OMIM:300755 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Hepatomegaly, Elevated circulating glutaric acid concentration, Neonatal death, Hepatic... |
OMIM:231680 |
Digeorge Syndrome |
|
Hypoplasia of the thymus, Parathyroid hypoplasia, Parathyroid agenesis, Seborrheic dermatitis, Re... |
OMIM:188400 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... |
ORPHA:3464 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen |
ORPHA:1666 |
Gaucher Disease Type 1 |
|
Biliary tract obstruction, Hepatomegaly, Osteoarthritis, Cirrhosis, Hypersplenism, Splenomegaly |
ORPHA:77259 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
Immunodeficiency 82 With Systemic Inflammation |
|
Skin rash, Colitis, Arthritis, Gastritis, Hepatitis, Recurrent otitis media, Pustular rash, Recur... |
OMIM:619381 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia, Hepatomegaly |
OMIM:266510 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Decreased response to growt... |
ORPHA:485405 |
Primary Sjögren Syndrome |
|
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Tubulointerstiti... |
ORPHA:289390 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... |
ORPHA:3130 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Alveolar Echinococcosis |
|
Cholangitis, Jaundice, Biliary cirrhosis, Abnormality of the diaphragm, Liver abscess, Abnormal s... |
ORPHA:284 |
Simple Cryoglobulinemia |
|
Arthritis, Membranoproliferative glomerulonephritis, Nephritis, Pericarditis, Viral hepatitis |
ORPHA:91139 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin-resistant diab... |
ORPHA:2298 |
Acute Liver Failure |
|
Jaundice, Hyperammonemia, Skin rash, Elevated hepatic transaminase, Hepatitis, Hepatic periportal... |
ORPHA:90062 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... |
OMIM:194072 |
Peutz-Jeghers Syndrome |
|
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, ... |
OMIM:175200 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Hepatomegaly, Periportal fibrosis, Neonatal death, Portal hypertension, Pancrea... |
OMIM:263200 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Hypoplastic nipples |
ORPHA:480880 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Glomerulonephritis, Recurrent aphthous stomatitis, Uveitis, Hepatomegal... |
ORPHA:3261 |
Zygomycosis |
|
Peritonitis, Myocarditis, Endocarditis, Pancreatitis, Colitis, Gastritis, Hepatitis, Sinusitis, I... |
ORPHA:73263 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Chronic otitis media, Cryptorchidism, Hypoparathyroidism, Arthritis, Ac... |
ORPHA:567 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Hepatosplenomegaly, Inflammatory abnormality of the skin, Hepatitis, Infectious encephalitis, Bro... |
ORPHA:391487 |
Neurofibroma |
|
Abnormal biliary tract morphology, Recurrent otitis media, Enlargement of parotid gland |
ORPHA:252183 |
Chylomicron Retention Disease |
|
Steatorrhea, Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hypertriglyc... |
ORPHA:71 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
Occipital Horn Syndrome |
|
Cholestasis, Jaundice, Hepatitis, Esophagitis |
ORPHA:198 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hypothyroidism |
OMIM:610883 |
Familial Adenomatous Polyposis |
|
Goiter, Biliary tract obstruction, Pancreatitis, Hepatoblastoma, Cholangiocarcinoma, Pancreatic a... |
ORPHA:733 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... |
ORPHA:2232 |
Zttk Syndrome |
|
Flexion contracture, Absent gallbladder |
OMIM:617140 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hepatic fibrosis, Hypoplasia of penis |
ORPHA:110 |
Cystic Fibrosis |
|
Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Steatorrhea, Hepatomegaly, Cirrhosis, Recurr... |
OMIM:219700 |
Tetrasomy 9P |
|
Jaundice, Cryptorchidism, Arthritis, Biliary atresia, Absent gallbladder, Myositis, Pericarditis |
ORPHA:3310 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Pancreatic hypoplasia, Retroperitoneal fibrosis, Hepatomegaly, Decreased resp... |
OMIM:602782 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Diabetes insipidus, Abetalipoproteinemia, Elevated circu... |
ORPHA:96180 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal liver lobulation, Cryptorchidism, Asplenia |
ORPHA:99776 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Polycystic ovaries, Hepatomegaly, Cirrhosis, Hyperinsul... |
ORPHA:79086 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholangitis, Hepatosplenomegaly, Macroglossia, Cholestasis, Congenital hepatic fibrosis, Hepatome... |
OMIM:266920 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Elevated hepatic transaminase, Biliary tract abnormality, Exocrine pancrea... |
OMIM:137920 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic calcification, Pancreatic pseudocyst |
OMIM:167800 |
Tropical Pancreatitis |
|
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... |
ORPHA:103918 |
Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Hypopituitarism, Hepatomegaly, Decreased response to growth hormone stimul... |
ORPHA:811 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Steatorrhea, Hepatic fibrosis, Hepatomegaly, Elevated hepatic tr... |
OMIM:212065 |
Wolf-Hirschhorn Syndrome |
|
Chronic otitis media, Cryptorchidism, Congenital diaphragmatic hernia, Abnormality of the gallbla... |
ORPHA:280 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... |
ORPHA:1772 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells |
ORPHA:99885 |
Sarcoidosis |
|
Hypercalcemia, Erythema nodosum, Maculopapular exanthema, Abnormal liver parenchyma morphology, T... |
ORPHA:797 |
Williams Syndrome |
|
Death in early adulthood, Chronic otitis media, Abnormal circulating lipid concentration, Cryptor... |
ORPHA:904 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Abnormal circulating lipid concentration |
ORPHA:36382 |
Abetalipoproteinemia |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hepatic fibrosis, Hepatomegaly, Elevated he... |
ORPHA:14 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Maculopapular exanthema, Skin rash, Fulminant hepatitis, Elevated hepatic transamina... |
ORPHA:319213 |
Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, Abnormality of the gallbladder, Cryptorchidism, Congenital diaphra... |
ORPHA:818 |
X-Linked Lymphoproliferative Disease |
|
Hepatosplenomegaly, Myocarditis, Inflammation of the large intestine, Fulminant hepatitis, Elevat... |
ORPHA:2442 |
Peters-Plus Syndrome |
|
Biliary tract abnormality, Diastasis recti, Cryptorchidism, Bilobate gallbladder |
OMIM:261540 |
Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Cryptorchidism, Elevated 7-dehydrocholesterol, Hepatomegaly, Death in ... |
OMIM:270400 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypercholesterolemia... |
ORPHA:567548 |
Cat Eye Syndrome |
|
Biliary atresia |
OMIM:115470 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder |
ORPHA:500150 |
Alg12-Cdg |
|
Cryptorchidism, Micropenis, Recurrent hypoglycemia, Elevated hepatic transaminase, Hypospadias, H... |
ORPHA:79324 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... |
ORPHA:99413 |
Turner Syndrome |
|
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... |
ORPHA:881 |
Mosaic Monosomy X |
|
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... |
ORPHA:99228 |
Monosomy X |
|
Gastrointestinal inflammation, Cholestatic liver disease, Inflammation of the large intestine, Ha... |
ORPHA:99226 |
Degcags Syndrome |
|
Hepatosplenomegaly, Cryptorchidism, Abnormal spleen morphology, Cholestasis, Hepatomegaly, Hyperb... |
OMIM:619488 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... |
ORPHA:572333 |
Stiff Skin Syndrome |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatosplenomegaly, Chronic otitis media, Flexion contracture, Cryptorchidism, Atopic dermatitis,... |
OMIM:619503 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma |
ORPHA:425 |
Overlap Myositis |
|
Diabetes mellitus, Abnormal circulating lipid concentration, Elevated hepatic transaminase, Eleva... |
ORPHA:206572 |
Alström Syndrome |
|
Hepatomegaly, Elevated circulating thyroid-stimulating hormone concentration, Elevated gamma-glut... |
ORPHA:64 |
Kaufman Oculocerebrofacial Syndrome |
|
Clitoral hypertrophy, Hypocholesterolemia, Hypoplastic labia majora |
OMIM:244450 |
Secondary Intestinal Lymphangiectasia |
|
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... |
ORPHA:90363 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Hypoplastic nipples, Hepatomegaly, Periportal fibrosis, Bicornuate uteru... |
ORPHA:79328 |
Leopard Syndrome 1 |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... |
OMIM:151100 |
Tangier Disease |
|
Hepatosplenomegaly, Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Hepatic steatosis, Azotemia |
OMIM:619321 |
Pmm2-Cdg |
|
Elevated circulating growth hormone concentration, Decreased testicular size, Aspiration pneumoni... |
ORPHA:79318 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Cryptorchidism, Hypospadias |
OMIM:223370 |
Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Hepatomegaly, Polysplenia, Biliary atresia, Abdominal situs inversus |
OMIM:306955 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Cryptorchidism, Micropenis, Clitoral hypertrophy, Urogenital sinus anomaly, Chordee, Streak ovary... |
OMIM:618820 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Retrope... |
ORPHA:449432 |
Schinzel-Giedion Syndrome |
|
Micropenis, Central hypothyroidism, Hepatoblastoma, Streak ovary, Annular pancreas, Hypospadias |
ORPHA:798 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cryptorchidism, Hepatomegaly, Hepatoblastoma |
OMIM:130650 |
Yellow Fever |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ala... |
ORPHA:99829 |
Vesicoureteral Reflux 3 |
|
|
OMIM:613674 |