Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Chylous Ascites |
|
Ascites, Pancreatitis, Lymphedema |
ORPHA:1160 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea... |
OMIM:167800 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Oligohydramnios, Exocrine pancreatic insufficiency |
OMIM:260370 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Dehydration |
ORPHA:79312 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios |
ORPHA:1203 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Pedal edema, Pleural effusion, Pancreatitis, Pulmonary edema |
ORPHA:188 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Dehydration |
ORPHA:27 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... |
ORPHA:69663 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis, Pulmonary edema |
ORPHA:70578 |
Maple Syrup Urine Disease |
|
Pancreatitis, Cerebral edema |
OMIM:248600 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema |
OMIM:211890 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia, Edema |
ORPHA:178320 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Cach Syndrome |
|
Oligohydramnios, Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Edema, Splenomegaly, Cholestasis |
OMIM:105200 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis, Dehydration |
OMIM:251000 |
Propionic Acidemia |
|
Hepatomegaly, Eczema, Pancreatitis, Dehydration |
OMIM:606054 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Hepatoblastoma, Enlarged kidney |
OMIM:130650 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Ovarian cyst, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Yellow Fever |
|
Acute pancreatitis, Pancreatic hyperplasia, Skin rash, Jaundice |
ORPHA:99829 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... |
OMIM:615710 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension, Edema, Pericardi... |
OMIM:619487 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczema, Cirrhosis, Edema |
ORPHA:79278 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Hepat... |
OMIM:232220 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Ovarian neoplasm, Ascites, Pancreatitis |
ORPHA:370348 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis, Cerebr... |
ORPHA:247585 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczema, Edema |
OMIM:177000 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Pedal edema, Arthri... |
ORPHA:342 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Bronchiect... |
OMIM:219700 |
Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Pancreatic insufficiency, combined exocrine |
|
Anasarca, Exocrine pancreatic insufficiency |
OMIM:260450 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... |
ORPHA:171 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Oligohydramnios, Pancreatic aplasia |
ORPHA:261265 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... |
ORPHA:444490 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Gout, Hepatocellular carcinoma, Pancreatitis, Enlarged kidney |
OMIM:232200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ph... |
ORPHA:93111 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Panniculitis, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Visceral Myopathy 1 |
|
Pancreatitis, Polyhydramnios |
OMIM:155310 |
Zygomycosis |
|
Fasciitis, Sinusitis, Pericarditis, Gastritis, Periorbital edema, Pustule, Peritonitis, Myocardit... |
ORPHA:73263 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Cholangitis, Retroperitoneal fibrosis, Orchitis, Periorbital edema, A... |
ORPHA:449563 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... |
ORPHA:117 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Pancreatitis, Minimal change glomerulonephritis |
ORPHA:1830 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... |
ORPHA:449395 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulation in hepatocytes, Dehydration |
ORPHA:20 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Angioedema, Chronic hepa... |
ORPHA:3260 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypothyroidism, Hepatocellular adenoma, Gout, Polycystic ovaries, Enterocolitis, Ul... |
ORPHA:79259 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Acute colitis, Pancreatitis, Dehydration |
ORPHA:90038 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis |
ORPHA:26791 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Recurren... |
OMIM:618268 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Myositis, Edema, Splenomegaly, Panniculitis |
OMIM:619183 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Edema, Myocarditis, Pleural empyema, Septic arthritis, Pancreatitis, Acute colitis, Ge... |
ORPHA:544482 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Congen... |
OMIM:610199 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Periorbital edema, Prostatit... |
ORPHA:900 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hepatic steatosis, Elevated circulating follicle stimulating hormone level, E... |
OMIM:617253 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis |
ORPHA:565612 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Pancreatitis |
OMIM:619471 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o... |
ORPHA:733 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:99880 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... |
ORPHA:276152 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... |
OMIM:232240 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries |
OMIM:151660 |
Mody |
|
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency |
ORPHA:552 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:222700 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis |
ORPHA:537 |
Dextrocardia |
|
Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia |
ORPHA:1666 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Orchitis, Splenomegaly, Jaundice, Pericardial effusion, Epididy... |
ORPHA:99827 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Facial edema, Periorbital edema, Prostatitis, Enlarged lac... |
ORPHA:449432 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Jaundice, Uveitis, Dehydration, Arthr... |
ORPHA:99826 |
Melas |
|
Hypoparathyroidism, Hypothyroidism, Recurrent pancreatitis |
ORPHA:550 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Oligohydramnios, Congenital hypothyroidism, Pancreatic aplasia, Aplasia/Hypoplas... |
ORPHA:2255 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis |
OMIM:608594 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Hepatosp... |
ORPHA:470 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Dehydration |
ORPHA:99885 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
Scorpion Envenomation |
|
Acute pancreatitis, Edema, Myocarditis, Hyperhidrosis, Pulmonary edema |
ORPHA:466677 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis |
OMIM:269700 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:618500 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Chronic pancreatitis, Pineal cyst, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ... |
OMIM:602782 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Sinusitis, Skin rash, Decreased response to growth hormone stimulation test, Eczema... |
ORPHA:811 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Pancre... |
OMIM:619991 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Biliary tract abnormality, Gout, Exocrine pancreatic insufficiency |
OMIM:137920 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pleural effusion, Recurrent pancreatitis |
OMIM:606721 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... |
ORPHA:83617 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |