Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration |
OMIM:300752 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology |
ORPHA:438274 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Decreased liver function |
ORPHA:79278 |
Mirizzi Syndrome |
|
Cholelithiasis, Vomiting, Elevated circulating hepatic transaminase concentration, Jaundice, Panc... |
ORPHA:521219 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Vomiting, Hepatic fibrosis, Biliary cirrhosis, Cholesta... |
ORPHA:53035 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis |
OMIM:235700 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Hypercholesterolemia, Hypertr... |
ORPHA:209902 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice |
OMIM:266200 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Hematochezia, Giant cell hepatitis, Elevated circulating hepatic trans... |
ORPHA:79095 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Dysphagia |
OMIM:160900 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Diarrhea, Portal inflammation, Elevated circulating hepatic transaminas... |
OMIM:602347 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Vomiting, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:171876 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... |
OMIM:619849 |
Ppoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Cholelithiasis, Increased circul... |
ORPHA:97278 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Hep... |
OMIM:613812 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis, Vomiting |
OMIM:620646 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg... |
ORPHA:231222 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... |
ORPHA:79301 |
Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit... |
ORPHA:90003 |
Sialuria |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... |
ORPHA:3166 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... |
OMIM:617394 |
Glycogen Storage Disease Vii |
|
Jaundice, Cholelithiasis |
OMIM:232800 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... |
ORPHA:171 |
Grfoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Cholelithiasis, Increased circul... |
ORPHA:97261 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:131 |
Somatostatinoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Increased cir... |
ORPHA:97283 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... |
ORPHA:30391 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure |
OMIM:614886 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic active hepatitis, Hypoparathyroidism, Asplenia |
OMIM:240300 |
Mitchell-Riley Syndrome |
|
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atres... |
OMIM:615710 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy... |
ORPHA:77259 |
Alpha-Thalassemia |
|
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice |
ORPHA:846 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen... |
OMIM:611881 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:603903 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:615512 |
Cimdag Syndrome |
|
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis |
OMIM:619273 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Nausea, ... |
ORPHA:100086 |
Cerebrotendinous Xanthomatosis |
|
Xanthelasma, Diarrhea, Cholelithiasis, Pseudobulbar paralysis |
OMIM:213700 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... |
ORPHA:1414 |
Hereditary Spherocytosis |
|
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Cholelithiasis, Cryptorchidism |
OMIM:300534 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... |
OMIM:618268 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal... |
OMIM:601346 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Hereditary Elliptocytosis |
|
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:288 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis |
OMIM:618775 |
Acth Deficiency, Isolated |
|
Cholestasis, Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice |
ORPHA:232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Chronic constipation, Hepatomegaly |
OMIM:301066 |
North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Constipation |
ORPHA:464738 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnorma... |
ORPHA:2869 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Hyperlipidemia, Splenom... |
ORPHA:77293 |
Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Vomiting, Annular pancreas |
ORPHA:97297 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... |
OMIM:620367 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Jaundice, Cholelithiasis, Splenomegaly |
OMIM:263700 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
Metachromatic Leukodystrophy |
|
Hemobilia, Neoplasm of the gallbladder, Bowel incontinence, Abnormal gallbladder morphology |
ORPHA:512 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Cerebrotendinous Xanthomatosis |
|
Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea |
ORPHA:909 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Cirrhosis, Splenic ... |
ORPHA:355 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... |
ORPHA:562639 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Cholelithiasis, Cryptorchidism, Splenomegal... |
ORPHA:567 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Diarrhea, Elevated circulating hepatic transaminase concentration, Oral-pharyngea... |
ORPHA:273 |
Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis,... |
ORPHA:774 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Cho... |
ORPHA:69665 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Hepatomegaly |
ORPHA:83617 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas |
ORPHA:3376 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly |
ORPHA:2072 |
Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce... |
OMIM:607330 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism |
ORPHA:2075 |
Digeorge Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Parathyroid hypoplasia, Hepatic steatosis, Ovarian cyst,... |
OMIM:188400 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
8P Inverted Duplication/Deletion Syndrome |
|
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96092 |
Williams Syndrome |
|
Cholelithiasis, Gastroesophageal reflux, Cryptorchidism, Polycystic ovaries, Constipation |
ORPHA:904 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... |
ORPHA:98908 |
Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Pancreatic cysts, Bile d... |
OMIM:267010 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Bowel incontinence, Cholecystitis |
ORPHA:309271 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Trisomy 8P |
|
Aplasia/Hypoplasia of the gallbladder, Constipation, Annular pancreas, Cryptorchidism |
ORPHA:264450 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at... |
ORPHA:2255 |
Vacterl/Vater Association |
|
Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas |
ORPHA:887 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Alkaptonuria |
|
Black pigment gallstones |
ORPHA:56 |
Q Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... |
ORPHA:781 |
Hardikar Syndrome |
|
Hepatic fibrosis, Hepatic failure, Vomiting, Portal inflammation, Elevated circulating hepatic tr... |
OMIM:301068 |
Listeriosis |
|
Vomiting, Diarrhea, Cholecystitis, Nausea, Peritonitis, Hepatic granulomatosis, Splenic abscess, ... |
ORPHA:533 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Cholecystitis, Cholangitis, Liver abscess |
ORPHA:183675 |
Trisomy 10P |
|
Gastroesophageal reflux, Dysphagia, Absent gallbladder |
ORPHA:171929 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Gastrointestinal hemorrhage, Periportal fibrosis, Cholestasis, Hepatosplenomega... |
ORPHA:731 |
Rett Syndrome |
|
Cholecystitis |
ORPHA:778 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Gaisböck Syndrome |
|
Hypercholesterolemia, Cholecystitis, Hypertriglyceridemia |
ORPHA:90041 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Vomiting, Elevated circulating hepatic transaminase concentration, Micronodular ... |
OMIM:203700 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder |
OMIM:617925 |
Zttk Syndrome |
|
Chronic diarrhea, Absent gallbladder |
OMIM:617140 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d... |
OMIM:618329 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatic failure, Diarrhea, Parotitis, Cholecystitis, Splenomegaly, Orchitis, Hematemesis, Hemoper... |
ORPHA:99827 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder, Gastroesophageal reflux, Cryptorchidism |
ORPHA:818 |
Kawasaki Disease |
|
Jaundice, Diarrhea, Hepatitis, Cholecystitis |
ORPHA:2331 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Cryptorchidism, Abdominal situs inversus |
ORPHA:280 |
Igg4-Related Kidney Disease |
|
Decreased liver function, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing ... |
ORPHA:449395 |
Tetrasomy 9P |
|
Jaundice, Absent gallbladder, Cryptorchidism, Biliary atresia |
ORPHA:3310 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Gastroparesis, Absent gallbladder, Chronic diarrhea, Dysphagia |
ORPHA:500150 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Vomiting, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Decre... |
OMIM:613658 |
D-Bifunctional Protein Deficiency |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... |
OMIM:261515 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Polyc... |
OMIM:208500 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Vomiting, Gastroesophageal reflux, Increased hepatic echogenicity, Elevated circulating hepatic t... |
OMIM:619525 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ... |
ORPHA:733 |
Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
Liver Disease, Severe Congenital |
|
Intrahepatic cholestasis, Hepatic failure, Vomiting, Diarrhea, Portal inflammation, Elevated circ... |
OMIM:619991 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality |
OMIM:261540 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Gastroesophageal reflux, Biliary cirrhosis, Cholestasis, Elevated circulating a... |
OMIM:619534 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Cryptorchidism, Splenomegaly, Aspleni... |
OMIM:249000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
|
OMIM:174000 |