Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase |
OMIM:306000 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... |
OMIM:232700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... |
OMIM:614480 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridem... |
ORPHA:75234 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... |
OMIM:605814 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... |
OMIM:607765 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Vomiting, Hypercholesterolemia, Hypoalbuminemia, Diarrhea, Prote... |
OMIM:615863 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615238 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
Chylomicron Retention Disease |
|
Vomiting, Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL c... |
OMIM:246700 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Hyper... |
OMIM:616829 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... |
OMIM:607616 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia |
ORPHA:436182 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia |
OMIM:613877 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... |
OMIM:214900 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... |
OMIM:610717 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... |
OMIM:612526 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... |
OMIM:603471 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hypertriglyceridemia |
OMIM:608898 |
Chylomicron Retention Disease |
|
Vomiting, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steato... |
ORPHA:71 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... |
OMIM:616828 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
High palate, Hypertriglyceridemia |
OMIM:618010 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hypertensi... |
OMIM:278000 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... |
ORPHA:209902 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Increased circulating... |
OMIM:300635 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Hypercholesterolemia, ... |
OMIM:619662 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... |
OMIM:603552 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Vomiting, Nausea, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterole... |
OMIM:238600 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Constipation |
OMIM:301033 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceride... |
OMIM:613101 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Congenital Short Bowel Syndrome |
|
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... |
OMIM:615237 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration |
OMIM:616834 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Ataxia With Vitamin E Deficiency |
|
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Volvulus, M... |
ORPHA:95427 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia |
OMIM:606721 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Vomiting, Hepatic fibrosis, Hepatocellular carcinoma, Esophageal v... |
ORPHA:370 |
Pancreatic Lipase Deficiency |
|
Hypolipidemia, Steatorrhea, Fat malabsorption |
OMIM:614338 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic failure, Hypoalbumi... |
OMIM:602579 |
Temple Syndrome |
|
High palate, Cleft palate, Bifid uvula, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Acholic stools, Biliary tract abnormality, Splenomegaly, Cirrhosis,... |
ORPHA:1414 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:79085 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomitin... |
ORPHA:247585 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption |
ORPHA:309108 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Malabsorption, Splenomegaly, Hypocalcemia |
ORPHA:100025 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... |
OMIM:214950 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid ... |
ORPHA:567983 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen conte... |
ORPHA:369 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Vomiting, Nausea, Hepatic fibrosis, Esophageal varix, Elevated cir... |
ORPHA:264580 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:435651 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elevated hepatic tr... |
OMIM:619013 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased prealbumin level, Vomiting, Celiac disease, Hypocholesterolemia, Incre... |
ORPHA:90363 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hyperthreonin... |
ORPHA:247598 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... |
ORPHA:79302 |
Somatostatinoma |
|
Hepatomegaly, Hypercalcemia, Gallbladder dysfunction, Increased circulating cortisol level, Neopl... |
ORPHA:97283 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... |
ORPHA:158057 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hyperuricemia, Cirrhosis, Hepatic steatosis, Hypertrigly... |
OMIM:604367 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Perianal abscess, ... |
ORPHA:444490 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice |
OMIM:237500 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Splenom... |
ORPHA:131 |
Mpi-Cdg |
|
Portal hypertension, Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastroin... |
ORPHA:79319 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... |
OMIM:615710 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Nausea, Hepatocellular carcinoma, Elevated circulating ... |
ORPHA:79240 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia |
ORPHA:363400 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... |
ORPHA:79168 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Malabsorption, Cholestatic liver disease, Chronic diarrhea, Abnormal s... |
ORPHA:92050 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentratio... |
OMIM:232400 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Macroglossia, Hypercholesterolemia, Hepatic steatosis, Cirrhosis, Hypertriglyceride... |
ORPHA:528 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... |
ORPHA:412 |
Analbuminemia |
|
Hypercholesterolemia, Elevated circulating transferrin concentration, Increased LDL cholesterol c... |
OMIM:616000 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatos... |
ORPHA:435660 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... |
ORPHA:158061 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... |
ORPHA:567548 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia |
OMIM:615381 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Increased circulating farnesol concentration, Elevated circulating methylsuc... |
OMIM:618156 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Vomiting, Gastrointestinal infar... |
ORPHA:2869 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly |
OMIM:618398 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Episodic vomiting |
OMIM:307030 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly |
OMIM:618810 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Potocki-Lupski Syndrome |
|
Oral-pharyngeal dysphagia, Hypocholesterolemia, High palate, Gastroesophageal reflux |
OMIM:610883 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Alg6-Cdg |
|
Macroglossia, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration,... |
ORPHA:79320 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... |
ORPHA:2088 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Fatal liver failure in infancy, Intermittent d... |
ORPHA:263501 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... |
OMIM:267700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Decreased liver function, Cholestatic liver disease, Increased circul... |
ORPHA:540 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Vomiting, Decreased liver function, Cholestasis, Hypoalbuminemia, Diarrhea, Protein... |
OMIM:608104 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:235700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:266200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Hepatic failure, E... |
OMIM:613812 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... |
OMIM:210500 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Xanthelasma, Increased LDL cholesterol concentration |
OMIM:144010 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Malabsorption, Chronic diarrhea, Abnormal small intestinal mucosa morphology, D... |
ORPHA:103907 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Abnormality of the gastrointestinal tract |
ORPHA:2089 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia, Constipation |
OMIM:182290 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
Hypercholanemia, Familial 1 |
|
Increased serum bile acid concentration, Steatorrhea, Fat malabsorption |
OMIM:607748 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:650 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration, Vomiting, Mala... |
ORPHA:2070 |
Sitosterolemia 1 |
|
Elevated circulating sitosterol concentration, Splenomegaly, Hypercholesterolemia, Abnormality of... |
OMIM:210250 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Hepatomegaly, Dysphagia, Elevated circulating creatine kinase concentration, Sp... |
OMIM:613327 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Colitis, Hepatitis, Decreased serum iron, Cirrhosis, Diarrhea |
OMIM:614602 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Vomiting, Hypocholestero... |
ORPHA:14 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Vomiting, Hypocholesterolemia, Hepatic steatosis, Hypoalbuminemia... |
OMIM:212065 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, De... |
ORPHA:96180 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis |
OMIM:300752 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Vomiting, Esophag... |
ORPHA:275761 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Increased level of gal... |
ORPHA:79237 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatic steatos... |
OMIM:255120 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertrigl... |
ORPHA:79083 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia |
ORPHA:2348 |
Refractory Celiac Disease |
|
Jejunitis, Hypoproteinemia, Villous atrophy, Hypophosphatemia, Malabsorption, Hypocalcemia, Chron... |
ORPHA:398063 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... |
OMIM:616278 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Villous atrophy, Malabsorption, Decreased circulating cortisol level |
OMIM:600955 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Alg1-Cdg |
|
Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal tract, Hypoalbumi... |
ORPHA:79327 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Diarrhea, Hypertriglyceridemia, Hypoplastic spleen |
OMIM:619313 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, High palate |
ORPHA:254531 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... |
ORPHA:98907 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Increased total bilirubin, Splenomegaly, Increased c... |
OMIM:603553 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Hepatic steatosis, Acute pancr... |
ORPHA:79086 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Secretory diar... |
OMIM:618183 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G... |
OMIM:619350 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Villous atrophy, Portal fibrosis, Hepatic fibrosis, Ileoileal i... |
OMIM:619377 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, A... |
OMIM:151660 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia |
ORPHA:31150 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia |
OMIM:617885 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Cholecystitis, Incre... |
ORPHA:90041 |
Mandibuloacral Dysplasia |
|
High palate, Increased circulating free fatty acid level, Hypercholesterolemia, Abnormal tongue m... |
ORPHA:2457 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, High palate, Vomiting, Macronodular cirrhosis, Sp... |
OMIM:619418 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Acth Deficiency, Isolated |
|
Jaundice, Cholestasis, Decreased circulating cortisol level |
OMIM:201400 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly |
ORPHA:79477 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Vomiting, Microvillus inclusions, Microvillar PAS-positive secretory granules, S... |
OMIM:619445 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Transient hyperlipidemia, Hepatomegaly, Hepatic failure |
ORPHA:156 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Villous atrophy, Splenomegaly, Increased circulating ferritin concentration, Ent... |
OMIM:616050 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, E... |
OMIM:602347 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Vomiting, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hypomagnesemia, Ham... |
OMIM:175500 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Hyperuricemia, H... |
OMIM:203800 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Abnormal intestine morphology, Decreased circulating copper concentrati... |
ORPHA:171851 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
Diarrhea 2, With Microvillus Atrophy |
|
Protracted diarrhea, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Lysinuric Protein Intolerance |
|
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... |
ORPHA:470 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol ... |
ORPHA:77293 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Villous atrophy, Elevated circulating C-reactive protein concentratio... |
OMIM:619573 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Chronic diarrhea, Hy... |
OMIM:300972 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Chronic panc... |
ORPHA:98908 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Abnormality of the intrahepatic bile duct, Hypertriglyceridemia |
ORPHA:363618 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice |
OMIM:605479 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, Jejunal atresi... |
OMIM:601346 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, High palate, Cleft palate, Bifid uvula, Hypercholesterolemia |
ORPHA:96184 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen con... |
ORPHA:79259 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, High palate, Cleft palate, Hypoalbuminemia |
OMIM:616730 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Vomiting, Nausea, Hepatic fibrosis, Esophageal var... |
ORPHA:53035 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Abnormality of the pancreas, Increased serum bile acid concentration, Cholecy... |
ORPHA:69665 |
Smith-Magenis Syndrome |
|
Cleft palate, Hypercholesterolemia, Hypertriglyceridemia, Gastroesophageal reflux, Constipation |
ORPHA:819 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Seckel Syndrome 10 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:617253 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dysphagia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevated alp... |
ORPHA:64753 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Gastroesophageal reflux |
OMIM:256300 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hyperproteinemia, Splenomegaly, Increased circulating ferritin concentration, Hyper... |
ORPHA:158048 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Hypercholesterolemia, Cirrhosis, Hypertr... |
OMIM:118450 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Erythrocytosis, Familial, 8 |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:222800 |
Gallbladder Neuroendocrine Tumor |
|
Nausea, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasis, Cholecystiti... |
ORPHA:100086 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Intestinal malrotation, Hypoalbuminemia, Elevated hepatic tran... |
ORPHA:79324 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Villous atrophy, Biliary tract abnormality, Protracted diarrhea, Malabsorption, Vira... |
OMIM:209920 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption |
OMIM:200100 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Pancreatitis, Splenomegaly, Hepatic steato... |
ORPHA:280365 |
Triploidy |
|
Hepatomegaly, Cleft palate, Abnormality of the gallbladder, Macroglossia, Intestinal malrotation,... |
ORPHA:3376 |
Primary Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:90970 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, High palate, Intestinal malrotation, Constipation |
OMIM:244450 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea |
OMIM:613217 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the ... |
ORPHA:90362 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Cleft palate, Aganglionic megacolon, Vomiting, Elevated 7-dehydrocholesterol, H... |
OMIM:270400 |
Glycogen Storage Disease Xii |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:611881 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... |
OMIM:608594 |
H Syndrome |
|
Hepatosplenomegaly, Malabsorption, Hypertriglyceridemia |
ORPHA:168569 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... |
ORPHA:731 |
Vascular Hyalinosis |
|
Diarrhea, Protein-losing enteropathy, Malabsorption, Hematochezia |
OMIM:277175 |
Microtriplication 11Q24.1 |
|
Cleft palate, Hyperlipidemia |
ORPHA:289522 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Vomiting, Intestinal pseudo-obstruction, Congenital shortened small intestine, ... |
OMIM:300048 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, High palate, Cleft palate |
OMIM:618348 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... |
OMIM:269700 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Celiac dis... |
ORPHA:186 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Hyperuricemia, Intermittent... |
OMIM:232200 |
Mirizzi Syndrome |
|
Gallbladder perforation, Vomiting, Nausea, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Chol... |
ORPHA:521219 |
Methanol Poisoning |
|
Vomiting, Diarrhea, Hyperlipidemia |
ORPHA:31825 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Diarrhea, Villous atrophy |
OMIM:614162 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Macroglossia, Abnormal circulating thyroglobulin level, Hypercholest... |
ORPHA:90674 |
Rett Syndrome |
|
Hyperammonemia, Increased serum pyruvate, Cholecystitis |
ORPHA:778 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Dysphagia, High palate, Bifid uvula |
OMIM:249310 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
X-Linked Lymphoproliferative Disease |
|
Inflammation of the large intestine, Hepatic necrosis, Fulminant hepatitis, Splenomegaly, Decreas... |
ORPHA:2442 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hypoproteinemia, Cleft palate, High palate, Splenomegaly, Pancreatic lymphangiectas... |
OMIM:235255 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Macroglossia, Splenomegaly, Hypocalcemia, Protein-losing enteropathy |
OMIM:618440 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Splenomegaly, Decreased liver function, Increased circulating ferr... |
ORPHA:167 |
Spherocytosis, Type 1 |
|
Jaundice, Hyperbilirubinemia, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Pancreatitis, Hyperuricemia, Xanthelasma,... |
OMIM:232220 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Vomiting, Nausea |
ORPHA:90065 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Pancreatitis, Elevated hepatic transaminase |
OMIM:619471 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hyperlipidemia, Elevated ci... |
ORPHA:157 |
Vacterl/Vater Association |
|
Cleft palate, Abnormality of the gallbladder, Anal atresia, Abnormality of the pancreas, Anorecta... |
ORPHA:887 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Genitopalatocardiac Syndrome |
|
Cleft palate, Abnormality of the gallbladder, Abnormality of mesentery morphology |
ORPHA:2075 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula |
OMIM:223320 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, High, narrow palate, Decreased plasma free carnitine, Hyperl... |
ORPHA:228308 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hepatomegaly, Abnormality of iron homeostasis, Villous atrophy, Hepatic fib... |
OMIM:222470 |
Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circ... |
ORPHA:90291 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Hypercalcemia, Morphological abnormality of the gastrointestinal tract, Hype... |
ORPHA:369837 |
Hereditary Hemorrhagic Telangiectasia |
|
Esophageal varix, Cholelithiasis, Cirrhosis, Gastrointestinal hemorrhage, Intestinal polyposis, H... |
ORPHA:774 |
Scleroderma |
|
Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circulating cre... |
ORPHA:801 |
Colonic Atresia |
|
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... |
ORPHA:1198 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, High palate |
ORPHA:2479 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Diarrhea, Small in... |
ORPHA:2929 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... |
ORPHA:512 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Hypoproteinemia, High palate, Splenomegaly, Hepatosplenomegaly, Pancreatic lymphang... |
ORPHA:1655 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Melena, Intussusception, Gas... |
ORPHA:79076 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Hepatoblastoma, Hyperuricemia, Xanthelasm... |
OMIM:232240 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Narrow palate, High palate, Hypertriglyceridemia |
ORPHA:536532 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:615512 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, High palate, Macrovesicular hepatic steatosis, Hypertriglyceridemia, Elevated hemog... |
OMIM:619127 |
Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Gastropa... |
OMIM:155310 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... |
ORPHA:210122 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Protein-losing enteropathy |
ORPHA:95428 |
Familial Multiple Lipomatosis |
|
Functional intestinal obstruction, Hyperlipidemia |
ORPHA:199276 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Ileal ulcer |
OMIM:616744 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Cleft palate, Hyperlipidemia |
ORPHA:254346 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Vomiting, Bifid uvula, Diarrhea |
OMIM:601110 |
Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Macroglossia, Splenomegaly, Parotitis, Hyp... |
OMIM:256040 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperlipidemia, Increased circulating cortisol level, Paradoxical increased cortisol secretion on... |
ORPHA:189427 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea, Villous atrophy, Duodenitis |
OMIM:614328 |
Mungan Syndrome |
|
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction |
OMIM:611376 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Celiac disease, Chronic gastritis, Cholecystitis, Viral hepatitis, Liver abscess |
ORPHA:183675 |
Syndromic Diarrhea |
|
Hepatomegaly, Bloody diarrhea, Abnormality of iron homeostasis, Villous atrophy, Hepatic fibrosis... |
ORPHA:84064 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Diarrhea, Increased blood urea nitrogen, Hyperlipi... |
OMIM:235400 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Meckel diverticulum |
ORPHA:163961 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Chronic diarrhea, Hepatitis, Ileus, Villous atrophy |
OMIM:304790 |
Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Hyperlipidemia, Increased circulating cortisol level, Paradoxical increased cortisol secretion on... |
ORPHA:189439 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Pancreatitis, S... |
ORPHA:565612 |
Q Fever |
|
Hepatomegaly, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomegaly, Cholecystiti... |
ORPHA:781 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Abnormality of the gastrointestina... |
ORPHA:439232 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cleft palate, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Chronic constipation |
OMIM:301066 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormal intestine morphology, Pancreatitis, Hyperlipidemia |
ORPHA:1830 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Aganglionic megacolon, Cleft palate, Abnormality of the gallbladder, Elevated 7... |
ORPHA:818 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Hyperlipidemia |
OMIM:608612 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hypoplasia o... |
OMIM:200995 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Intestinal lymphangiectasia, Narrow palate, Hypoalbuminemia, Protein-losing ente... |
OMIM:235510 |
Aromatase Deficiency |
|
Hepatic steatosis, Hyperlipidemia |
ORPHA:91 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Peritoneal abscess, Hepatitis, Gastrointestinal atresia, Intestinal malrotation,... |
ORPHA:436252 |
Igg4-Related Kidney Disease |
|
Abnormality of mesentery morphology, Retroperitoneal fibrosis, Elevated circulating creatinine co... |
ORPHA:449395 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Listeriosis |
|
Splenic abscess, Vomiting, Peritonitis, Nausea, Liver abscess, Cholecystitis, Hepatic granulomato... |
ORPHA:533 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Esophageal varix, Splenomegaly, Increased circulating ferritin concentration, Conjugated hyperbil... |
OMIM:619534 |
Netherton Syndrome |
|
Abnormal intestine morphology, Intestinal atresia, Villous atrophy |
OMIM:256500 |
Homozygous Familial Hypercholesterolemia |
|
Hypercholesterolemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia |
ORPHA:391665 |
Immunodeficiency 85 And Autoimmunity |
|
Chronic diarrhea, Villous atrophy, Vomiting |
OMIM:619510 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Hypoamylasemia, Increased serum bile acid concentration, Ste... |
ORPHA:811 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Melena, Splenomegaly, Parotitis... |
ORPHA:99827 |
Dextrocardia |
|
Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal s... |
ORPHA:1666 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Calcinosis, Hyperlipidemia |
OMIM:248370 |
Wiedemann-Rautenstrauch Syndrome |
|
Dysphagia, Hypertriglyceridemia |
OMIM:264090 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Hyperlipidemia |
ORPHA:90153 |
X-Linked Non-Syndromic Intellectual Disability |
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Pyloric stenosis, Meckel diverticulum |
ORPHA:777 |
Harrod Syndrome |
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Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... |
OMIM:601095 |
Zygomycosis |
|
Colon perforation, Splenic abscess, Vomiting, Nausea, Peritonitis, Colitis, Hematemesis, Hepatiti... |
ORPHA:73263 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Neoplasm of the small intestine |
ORPHA:79474 |
Immunodeficiency 82 With Systemic Inflammation |
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Duodenal ulcer, Villous atrophy, Elevated circulating C-reactive protein concentration, Vomiting,... |
OMIM:619381 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Inflammation of the large intestine, Villous atrophy, Splenomegaly, Chronic diarrhea, Colitis |
OMIM:614700 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Intestinal pseudo-obstruction, Cholelithiasis, Hypercholesterolemi... |
ORPHA:273 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Chronic diarrhea, Hepatosplenomegaly, Villous atrophy |
OMIM:606367 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Colonic diverticula, Small bowel diverticula |
OMIM:223330 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Matthew-Wood Syndrome |
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Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology, Annular pancreas |
ORPHA:2470 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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High palate, Cleft palate, Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, C... |
OMIM:601776 |
Kawasaki Disease |
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Hepatitis, Glossitis, Cholecystitis, Diarrhea, Jaundice |
ORPHA:2331 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Cleft palate, Abnormality of mesentery morphology, Malrotation of small bowel, Const... |
ORPHA:2953 |
Wolf-Hirschhorn Syndrome |
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Cleft palate, Abdominal situs inversus, Abnormality of the gallbladder |
ORPHA:280 |
Wiedemann-Rautenstrauch Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Submucous cleft soft palate |
ORPHA:3455 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Morphological abnormality of the gastrointestinal tract |
ORPHA:2847 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypokalemia, Hypophosphatemia, Malabsorption, Hypercholesterolemia, Narrow palate, ... |
ORPHA:534 |
Alg9-Cdg |
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Hepatomegaly, Villous atrophy, Vomiting, Hepatic cysts, Bifid uvula, Diarrhea, Gastroesophageal r... |
ORPHA:79328 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Meckel diverticulum |
OMIM:602613 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Abnormal intestine morphology, Villous atrophy, Hepatitis, Hepatosplenomegaly, Esophageal carcino... |
ORPHA:391487 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Celiac disease, Hyperlipidemia, Gastrointestinal dysmotility, Elevated hepatic tran... |
ORPHA:293987 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... |
OMIM:309000 |
Down Syndrome |
|
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Protruding tongue |
OMIM:190685 |
Trisomy 8P |
|
Cleft palate, Annular pancreas, Aplasia/Hypoplasia of the gallbladder, Bifid uvula, Malrotation o... |
ORPHA:264450 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Cleft palate, Meckel diverticulum, Duodenal atresia, Asplenia, Annular pancreas, Congenital short... |
OMIM:265380 |
Alström Syndrome |
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Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Esophageal varix, Hepatitis, Pancreatitis, Spleno... |
ORPHA:64 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... |
ORPHA:99413 |
Turner Syndrome |
|
High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... |
ORPHA:881 |
Mosaic Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, High palate, Hepatic fibrosis, Hyperlip... |
ORPHA:99226 |
Whim Syndrome |
|
Abnormality of the small intestine, Parotitis |
ORPHA:51636 |
Fryns Syndrome |
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Ectopic pancreatic tissue, Aganglionic megacolon, Cleft palate, Duodenal atresia, Meckel divertic... |
OMIM:229850 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Achalasia, Malabsorption, Hyperlipidemia |
ORPHA:324 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... |
ORPHA:141127 |
Fanconi Anemia |
|
Aganglionic megacolon, Cleft palate, High palate, Duodenal stenosis, Meckel diverticulum, Anal at... |
ORPHA:84 |
Tarp Syndrome |
|
Abnormal duodenum morphology, Tongue nodules, Cleft palate, Glossoptosis |
ORPHA:2886 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Meckel diverticulum, Pancreatic cysts |
OMIM:274000 |
Fraser Syndrome 1 |
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Abnormality of the anus, Cleft palate, Abnormality of the small intestine |
OMIM:219000 |
Storm Syndrome |
|
Fat malabsorption |
OMIM:185069 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
ORPHA:3464 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Malrotation of small bowel, Accessory spleen, Biliary tract abnormality, Gastroesop... |
OMIM:194190 |
Mosaic Trisomy 16 |
|
Anteriorly placed anus, Meckel diverticulum, Abnormality of the gastrointestinal tract |
ORPHA:1708 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Cleft palate, Meckel diverticulum, Exaggerated median tongue furrow, Macroglossia, ... |
OMIM:312870 |
Viss Syndrome |
|
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... |
OMIM:619472 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Small bowel diverticula |
ORPHA:90349 |
Autosomal Dominant Cutis Laxa |
|
Small bowel diverticula, Vomiting |
ORPHA:90348 |