Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Congenital Pancreatic Cyst |
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Jaundice, Pancreatitis |
ORPHA:313906 |
Lipase Deficiency, Combined |
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Pancreatitis |
OMIM:246650 |
Mahvash Disease |
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Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Chylous Ascites |
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Pancreatitis |
ORPHA:1160 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Gallbladder Disease 1 |
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Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Tropical Calcific Pancreatitis |
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Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Benign Recurrent Intrahepatic Cholestasis |
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Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
Pancreatitis, Hereditary |
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Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
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Pancreatitis |
OMIM:618230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
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Pancreatitis |
OMIM:620137 |
Citrullinemia, Type Ii, Adult-Onset |
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Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Hereditary Chronic Pancreatitis |
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Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hepatomegaly, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Low Phospholipid-Associated Cholelithiasis |
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Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... |
ORPHA:69663 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
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Abnormality of the pancreatic islet cells |
OMIM:606762 |
Hyperparathyroidism 2 With Jaw Tumors |
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Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma |
OMIM:145001 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Lipodystrophy, Familial Partial, Type 1 |
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Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Splenomegaly, Hepatomegaly, Pancreatitis |
ORPHA:79312 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hepatomegaly, Pancreatitis |
ORPHA:27 |
Cidec-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Adult Acute Respiratory Distress Syndrome |
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Pancreatitis, Pneumonia |
ORPHA:70578 |
Rat-Bite Fever |
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Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Maple Syrup Urine Disease |
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Pancreatitis |
OMIM:248600 |
Cach Syndrome |
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Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, U... |
OMIM:618935 |
Microscopic Polyangiitis |
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Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Propionic Acidemia |
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Hepatomegaly, Eczema, Pancreatitis |
OMIM:606054 |
Systemic Capillary Leak Syndrome |
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Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
Legionnaires Disease |
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Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
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Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly |
OMIM:251000 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Acute Lung Injury |
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Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Mirizzi Syndrome |
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Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Iridocyclitis, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Pancreatic Agenesis 2 |
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Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Microsporidiosis |
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Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... |
ORPHA:2552 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Caroli Syndrome |
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Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Hepat... |
OMIM:232220 |
Familial Chylomicronemia Syndrome |
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Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... |
ORPHA:444490 |
Dysbetalipoproteinemia |
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Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Hypothyroidism |
ORPHA:412 |
Citrullinemia Type Ii |
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Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis |
ORPHA:247585 |
Nephronophthisis-Like Nephropathy 1 |
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Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Peripheral Primitive Neuroectodermal Tumor |
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Neoplasm of the pancreas, Jaundice, Pancreatitis |
ORPHA:370348 |
Cystic Fibrosis |
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Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
Primary Sclerosing Cholangitis |
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Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... |
ORPHA:171 |
Mccune-Albright Syndrome |
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Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... |
ORPHA:562 |
Aicardi-Goutieres Syndrome 9 |
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Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertensio... |
OMIM:619487 |
Ebola Hemorrhagic Fever |
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Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Acute pancreatitis, Panniculitis, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Schimke Immuno-Osseous Dysplasia |
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Pancreatitis, Abnormality of thyroid physiology, Minimal change glomerulonephritis |
ORPHA:1830 |
Familial Mediterranean Fever |
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Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma |
OMIM:232200 |
Igg4-Related Pachymeningitis |
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Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Zygomycosis |
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Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... |
ORPHA:73263 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis |
ORPHA:26791 |
Behçet Disease |
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Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Coccidioidomycosis |
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Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatic steatosis, Hepatomegaly, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis,... |
ORPHA:79259 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Seckel Syndrome 10 |
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Acute pancreatitis, Hepatic steatosis, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis |
ORPHA:565612 |
Pauci-Immune Glomerulonephritis |
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Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Igg4-Related Kidney Disease |
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Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... |
ORPHA:449395 |
Visceral Myopathy 1 |
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Pancreatitis |
OMIM:155310 |
Bardet-Biedl Syndrome 20 |
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Pancreatitis |
OMIM:619471 |
Trichohepatoneurodevelopmental Syndrome |
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Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... |
OMIM:618268 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat... |
ORPHA:3260 |
Granulomatosis With Polyangiitis |
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Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ... |
ORPHA:900 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Keratitis, Retroperitoneal fibrosis, Orchitis, Thyroiditis, Prostatitis, ... |
ORPHA:449563 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hepatomegaly, Acute pancreatitis, Lipid accumulation in hepatocytes, Jaundice |
ORPHA:20 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Peritonitis, Pancreatitis, Acute colitis |
ORPHA:90038 |
Familial Adenomatous Polyposis |
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Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... |
OMIM:232240 |
Stevens-Johnson Syndrome |
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Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Toxic Epidermal Necrolysis |
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Conjunctivitis, Pancreatitis |
ORPHA:537 |
Lysinuric Protein Intolerance |
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Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:222700 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:99880 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:143 |
Melas |
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Hypoparathyroidism, Hypothyroidism, Recurrent pancreatitis |
ORPHA:550 |
Familial Hypocalciuric Hypercalcemia |
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Pancreatitis |
ORPHA:405 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Hepatosp... |
ORPHA:470 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
OMIM:608594 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Erythema nodosum, Splenomegaly, Jaundice, Epididymitis, Myocard... |
ORPHA:99827 |
Marburg Hemorrhagic Fever |
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Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Jaundice, Uveitis, Arthritis, Pancrea... |
ORPHA:99826 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
OMIM:269700 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Elevated circulating growth hormone concentration, Insulinoma, Extrahepatic ... |
ORPHA:276152 |
Neutral Lipid Storage Myopathy |
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Hepatomegaly, Hepatic steatosis, Cholecystitis, Chronic pancreatitis |
ORPHA:98908 |
Scorpion Envenomation |
|
Myocarditis, Acute pancreatitis, Hyperhidrosis |
ORPHA:466677 |
Yellow Fever |
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Acute pancreatitis, Pancreatic hyperplasia, Skin rash, Jaundice |
ORPHA:99829 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis |
OMIM:606721 |
Alström Syndrome |
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Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... |
ORPHA:64 |