Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Recurrent pancreatitis, Splenomegaly |
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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Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis |
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 |
Gallbladder Disease 1 |
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Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... |
OMIM:600803 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Benign Recurrent Intrahepatic Cholestasis |
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Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... |
ORPHA:65682 |
Tropical Calcific Pancreatitis |
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Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
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Pancreatitis |
OMIM:618230 |
Combined Oxidative Phosphorylation Deficiency 52 |
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Adrenal insufficiency, Pancreatitis, Hepatic steatosis |
OMIM:619386 |
Low Phospholipid-Associated Cholelithiasis |
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Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... |
ORPHA:69663 |
Pancreatitis, Hereditary |
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Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst |
OMIM:167800 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
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Pancreatitis |
OMIM:620137 |
Citrullinemia, Type Ii, Adult-Onset |
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Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hepatomegaly, Pancreatitis, Hepatic steatosis |
OMIM:618805 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:79312 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Lipodystrophy, Familial Partial, Type 1 |
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Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Hyperparathyroidism 2 With Jaw Tumors |
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Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis |
OMIM:145001 |
Hereditary Chronic Pancreatitis |
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Pancreatic calcification, Jaundice, Recurrent pancreatitis |
ORPHA:676 |
Rat-Bite Fever |
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Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
Cach Syndrome |
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Optic neuritis, Hepatosplenomegaly, Pancreatitis |
ORPHA:135 |
Hyperlipoproteinemia, Type Id |
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Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hepatomegaly, Pancreatitis |
ORPHA:27 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
Microscopic Polyangiitis |
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Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... |
ORPHA:727 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh... |
OMIM:618935 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Cidec-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:435651 |
Legionnaires Disease |
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Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit... |
ORPHA:549 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Adult Acute Respiratory Distress Syndrome |
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Pneumonia, Pancreatitis |
ORPHA:70578 |
Propionic Acidemia |
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Hepatomegaly, Pancreatitis, Eczematoid dermatitis |
OMIM:606054 |
Systemic Capillary Leak Syndrome |
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Myocarditis, Pancreatitis, Pericarditis |
ORPHA:188 |
Microsporidiosis |
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Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit... |
ORPHA:2552 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:2348 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Hypothyroidism, Iridocyclitis, Pancreatitis |
ORPHA:412057 |
Pparg-Related Familial Partial Lipodystrophy |
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Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly |
ORPHA:79083 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level |
OMIM:610475 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
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Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Maple Syrup Urine Disease, Type Ia |
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Pancreatitis |
OMIM:248600 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis |
OMIM:251000 |
Acute Lung Injury |
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Pneumonia, Acute pancreatitis |
ORPHA:178320 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Pancreatitis, Hepatic steatosis |
OMIM:236200 |
Congenital Syphilis |
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Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Prolonged neonatal jaundice, Pancreatitis, M... |
ORPHA:499009 |
Mirizzi Syndrome |
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Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja... |
ORPHA:521219 |
Caroli Syndrome |
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Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm... |
ORPHA:480520 |
Primary Sclerosing Cholangitis |
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Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension... |
ORPHA:171 |
Citrullinemia Type Ii |
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Hepatic fibrosis, Hepatic steatosis, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:247585 |
Cystic Fibrosis |
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Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch... |
OMIM:219700 |
Schimke Immuno-Osseous Dysplasia |
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Minimal change glomerulonephritis, Abnormality of thyroid physiology, Pancreatitis |
ORPHA:1830 |
Familial Chylomicronemia Syndrome |
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Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ... |
ORPHA:444490 |
Glycogen Storage Disease Ib |
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Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepat... |
OMIM:232220 |
Aicardi-Goutieres Syndrome 9 |
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Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Chilblains, Hypothy... |
OMIM:619487 |
Zygomycosis |
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Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... |
ORPHA:73263 |
Mccune-Albright Syndrome |
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Increased circulating cortisol level, Increased circulating prolactin concentration, Hepatitis, C... |
ORPHA:562 |
Dysbetalipoproteinemia |
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Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis |
ORPHA:412 |
Coccidioidomycosis |
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Pneumonia, Folliculitis, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, Abnormality... |
ORPHA:228123 |
Ebola Hemorrhagic Fever |
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Maculopapular exanthema, Acute pancreatitis, Hepatitis |
ORPHA:319218 |
Peripheral Primitive Neuroectodermal Tumor |
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Jaundice, Pancreatitis, Neoplasm of the pancreas |
ORPHA:370348 |
Igg4-Related Kidney Disease |
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Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Abn... |
ORPHA:449395 |
Behçet Disease |
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Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp... |
ORPHA:117 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Acute pancreatitis, Hepatic periportal necrosis |
ORPHA:26791 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Inflammation of the large intestine, Periodontitis, Gout, Hepatic steatosis, Increased hepatic gl... |
ORPHA:79259 |
Familial Mediterranean Fever |
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Erysipelas, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthrit... |
ORPHA:342 |
Hyperlipoproteinemia, Type I |
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Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma |
OMIM:232200 |
Acquired Generalized Lipodystrophy |
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Hepatic steatosis, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis |
ORPHA:79086 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Pancreatitis, Primary hyperparathyroidism |
OMIM:600740 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:280365 |
Igg4-Related Pachymeningitis |
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Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis |
ORPHA:449427 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Hepatosplenomegaly,... |
ORPHA:3260 |
Pauci-Immune Glomerulonephritis |
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Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ... |
ORPHA:93126 |
Nephronophthisis-Like Nephropathy 1 |
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Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Trichohepatoneurodevelopmental Syndrome |
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Cholelithiasis, Recurrent otitis media, Exocrine pancreatic insufficiency, Splenomegaly, Recurren... |
OMIM:618268 |
Granulomatosis With Polyangiitis |
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Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I... |
ORPHA:900 |
Seckel Syndrome 10 |
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Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:617253 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hepatomegaly, Jaundice, Acute pancreatitis, Lipid accumulation in hepatocytes |
ORPHA:20 |
Igg4-Related Ophthalmic Disease |
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Keratitis, Orchitis, Prostatitis, Pancreatitis, Sinusitis, Cholangitis, Thyroiditis, Retroperiton... |
ORPHA:449563 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Peritonitis, Pancreatitis, Acute colitis |
ORPHA:90038 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Hepatic sinusoidal dilatation, Pancreatitis, Splenic cyst |
OMIM:620371 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly |
ORPHA:565612 |
Familial Adenomatous Polyposis |
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Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, Hypothyroidism, Pancreatiti... |
ORPHA:733 |
Stevens-Johnson Syndrome |
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Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Toxic Epidermal Necrolysis |
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Conjunctivitis, Pancreatitis |
ORPHA:537 |
Glycogen Storage Disease Ic |
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Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Hepatomegaly, St... |
OMIM:232240 |
Bardet-Biedl Syndrome 20 |
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Pancreatitis |
OMIM:619471 |
Melas |
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Hypoparathyroidism, Recurrent pancreatitis, Hypothyroidism |
ORPHA:550 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis |
ORPHA:544482 |
Lysinuric Protein Intolerance |
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Hepatic amyloidosis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, H... |
ORPHA:470 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:222700 |
Visceral Myopathy 1 |
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Pancreatitis |
OMIM:155310 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism |
ORPHA:99880 |
Crimean-Congo Hemorrhagic Fever |
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Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,... |
ORPHA:99827 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism |
ORPHA:143 |
Neutral Lipid Storage Disease With Myopathy |
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Hepatomegaly, Splenomegaly, Chronic pancreatitis, Hepatic steatosis |
OMIM:610717 |
Marburg Hemorrhagic Fever |
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Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Jaundice, Maculopapular exanthema, Pericar... |
ORPHA:99826 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis |
OMIM:608594 |
Familial Hypocalciuric Hypercalcemia |
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Pancreatitis |
ORPHA:405 |
Neutral Lipid Storage Myopathy |
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Hepatomegaly, Chronic pancreatitis, Hepatic steatosis, Cholecystitis |
ORPHA:98908 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Splenomegaly, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acute pancreatitis |
OMIM:269700 |
Scorpion Envenomation |
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Myocarditis, Acute pancreatitis, Hyperhidrosis |
ORPHA:466677 |
Glycerol Kinase Deficiency |
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Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
Yellow Fever |
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Skin rash, Jaundice, Acute pancreatitis, Pancreatic hyperplasia |
ORPHA:99829 |
Lipodystrophy, Familial Partial, Type 7 |
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Recurrent pancreatitis |
OMIM:606721 |
Alström Syndrome |
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Hepatic fibrosis, Recurrent pneumonia, Hepatitis, Decreased response to growth hormone stimulatio... |
ORPHA:64 |