Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Lipase Deficiency, Combined |
|
Pancreatitis |
OMIM:246650 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis |
OMIM:619290 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Gallbladder Disease 1 |
|
Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Portal inflammation, Cholestasis, Bile duct ... |
OMIM:600803 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis |
ORPHA:79084 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification |
OMIM:167800 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Cholelithiasis, Hepatocellular carc... |
ORPHA:65682 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Pancreatic calcification, Recurrent pancreatitis |
ORPHA:676 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... |
ORPHA:103918 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Recurrent pancreatitis, Parathyroid adenoma, Pancreatic adenocarcinoma, Hy... |
OMIM:145001 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis,... |
OMIM:603471 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis |
OMIM:620137 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live... |
ORPHA:69663 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Hepatomegaly, Pancreatitis |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Hepatic steatosis, Adrenal insufficiency |
OMIM:619386 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Pancreatitis, Parathyroid adenoma, Hyperparathyroidism |
OMIM:145980 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:79312 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis |
ORPHA:435651 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis |
OMIM:615947 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... |
ORPHA:139507 |
Rat-Bite Fever |
|
Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymphadenitis, Per... |
ORPHA:31205 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid dermatitis, Recu... |
OMIM:618935 |
Microscopic Polyangiitis |
|
Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritonitis, Increased... |
ORPHA:727 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis |
ORPHA:70578 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
Legionnaires Disease |
|
Myocarditis, Jaundice, Pancreatitis, Pericarditis, Endocarditis, Splenomegaly, Hepatitis, Infecti... |
ORPHA:549 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pancreatitis, Ovarian cyst, Primary hypercortisolism, Increased circulating cortisol level |
OMIM:610475 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis |
ORPHA:2348 |
Propionic Acidemia |
|
Hepatomegaly, Pancreatitis, Eczematoid dermatitis |
OMIM:606054 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis |
ORPHA:79083 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Maple Syrup Urine Disease, Type Ia |
|
Pancreatitis |
OMIM:248600 |
Microsporidiosis |
|
Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia... |
ORPHA:2552 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Pancreatitis, Iridocyclitis |
ORPHA:412057 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:260370 |
Mirizzi Syndrome |
|
Jaundice, Pancreatitis, Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Abnormal... |
ORPHA:521219 |
Acute Lung Injury |
|
Pneumonia, Acute pancreatitis |
ORPHA:178320 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Pancreatitis, Tubulointerstitial nephritis |
OMIM:251000 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
Mccune-Albright Syndrome |
|
Hepatocellular adenoma, Pancreatitis, Cholestasis, Abnormal testis morphology, Hyperplasia of the... |
ORPHA:562 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ... |
ORPHA:64744 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Spleno... |
OMIM:232220 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pancreatitis, Hepatic steatosis |
OMIM:236200 |
Caroli Syndrome |
|
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs... |
ORPHA:480520 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Cystic Fibrosis |
|
Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent pneumonia, Hepatosplenomegaly... |
OMIM:219700 |
Familial Chylomicronemia Syndrome |
|
Perianal abscess, Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... |
ORPHA:444490 |
Primary Sclerosing Cholangitis |
|
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... |
ORPHA:171 |
Congenital Syphilis |
|
Myocarditis, Pancreatitis, Synovitis, Prolonged neonatal jaundice, Rhinitis, Hepatosplenomegaly, ... |
ORPHA:499009 |
Citrullinemia Type Ii |
|
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis |
ORPHA:247585 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
Peripheral Primitive Neuroectodermal Tumor |
|
Jaundice, Ovarian neoplasm, Neoplasm of the pancreas, Pancreatitis |
ORPHA:370348 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Acute pancreatitis, Chilblains, Portal hypertension, Hypothyroidism, Pericarditis, ... |
OMIM:619487 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Pancreatitis |
ORPHA:1830 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis, Polycystic ovaries, Hepatic steatosis |
ORPHA:79086 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
Zygomycosis |
|
Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Splenic abscess, Hep... |
ORPHA:73263 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Abnormality of the anterior pituitary, Sclerosing cholangitis, Arterit... |
ORPHA:449395 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... |
OMIM:208540 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism |
OMIM:600740 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hepatocellular carcinoma, Pancreatitis, Gout |
OMIM:232200 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Increased hepatic glycogen content, Periodont... |
ORPHA:79259 |
Coccidioidomycosis |
|
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Arthritis, Skin rash, Folliculitis, Per... |
ORPHA:228123 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... |
OMIM:615710 |
Behçet Disease |
|
Acne, Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Increased... |
ORPHA:117 |
Familial Mediterranean Fever |
|
Pancreatitis, Arthritis, Skin rash, Pericarditis, Erysipelas, Splenomegaly, Osteoarthritis, Perit... |
ORPHA:342 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis |
ORPHA:280365 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Acute pancreatitis, Hepatomegaly, Hepatic periportal necrosis |
ORPHA:26791 |
Igg4-Related Pachymeningitis |
|
Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Nephritis |
ORPHA:449427 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Arteritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, ... |
ORPHA:93126 |
Igg4-Related Ophthalmic Disease |
|
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Sialadenitis, Thyroiditis, Sinu... |
ORPHA:449563 |
Matthew-Wood Syndrome |
|
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology |
ORPHA:2470 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cholangitis, Pancreatitis, Arthritis, Eczematoid dermatitis, Chronic hepatitis, ... |
ORPHA:3260 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Recurrent otitis media, Cholelithiasis, Hypoplastic nipples, Hypothyroidism, Exocri... |
OMIM:618268 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hepatic steatosis, Elevated circulating luteinizing hormone level, Elevated c... |
OMIM:617253 |
Familial Adenomatous Polyposis |
|
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Thyroiditis, Biliary tract ... |
ORPHA:733 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Bilateral cryptorchidism |
OMIM:619471 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Skin rash, ... |
ORPHA:900 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatitis, Testicular neoplasm, Primary hyperparathyroidism, Parathyroid adenoma, Abnormal par... |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Parathyroid carcinoma, Pancreatitis, Testicular neoplasm, Primary hyperparathyroidism, Abnormal p... |
ORPHA:143 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis, Splenomegaly, Hepatomegaly |
ORPHA:565612 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly |
ORPHA:20 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Pancreatitis, Peritonitis |
ORPHA:90038 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the lar... |
OMIM:232240 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Cryptorchidism, Pancreatitis, Splenic cyst |
OMIM:620371 |
Stevens-Johnson Syndrome |
|
Pancreatitis, Conjunctivitis |
ORPHA:36426 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ... |
ORPHA:449432 |
Toxic Epidermal Necrolysis |
|
Pancreatitis, Conjunctivitis |
ORPHA:537 |
Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Splenomegaly |
OMIM:610717 |
Lipodystrophy, Familial Partial, Type 2 |
|
Acute pancreatitis, Polycystic ovaries, Hepatomegaly, Hepatic steatosis |
OMIM:151660 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... |
ORPHA:456312 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:222700 |
Melas |
|
Hypothyroidism, Hypoparathyroidism, Recurrent pancreatitis |
ORPHA:550 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pancreatitis, Acute colitis, Septic arthritis, Pneumonia |
ORPHA:544482 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Cirrhosis, Pancreatitis, Hepatomegaly, Hep... |
ORPHA:470 |
Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Myocarditis, Jaundice, Hepatomegaly, Parotitis, Acute pancreatitis, Hyperhidro... |
ORPHA:99827 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis |
OMIM:608594 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
Marburg Hemorrhagic Fever |
|
Jaundice, Pancreatitis, Arthritis, Skin rash, Pericarditis, Orchitis, Maculopapular exanthema, Uv... |
ORPHA:99826 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Pineal cyst |
ORPHA:98908 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis |
OMIM:269700 |
Feingold Syndrome |
|
Annular pancreas, Abnormality of the spleen |
ORPHA:1305 |
Aceruloplasminemia |
|
Elevated hepatic iron concentration, Abnormal pancreas morphology |
ORPHA:48818 |
Bone Marrow Failure Syndrome 3 |
|
Hyperechogenic pancreas, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Cryptorchidism... |
OMIM:617052 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Polycystic liver disease, Bile duct proliferation, Nephritis, Hepatic fibrosis, Pancrea... |
OMIM:208500 |
Shwachman-Diamond Syndrome 2 |
|
Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Hepatomegaly |
OMIM:617941 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hypothyroidism, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fib... |
OMIM:616263 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hepatomegaly |
OMIM:200995 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Chronic pancreatitis, Adrenal insufficiency |
OMIM:307030 |
Scorpion Envenomation |
|
Myocarditis, Hyperhidrosis, Acute pancreatitis |
ORPHA:466677 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Arthr... |
ORPHA:93111 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Annular pancreas, Asplenia |
ORPHA:210122 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Allergic rhinitis, Eczematoid dermatitis |
OMIM:618162 |
Yellow Fever |
|
Skin rash, Jaundice, Acute pancreatitis, Pancreatic hyperplasia |
ORPHA:99829 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
Bohring-Opitz Syndrome |
|
Hyperechogenic pancreas, Supernumerary nipple |
OMIM:605039 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Punctate keratitis, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Panc... |
OMIM:557000 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Hypothyr... |
ORPHA:699 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Biliary tract abnormality, Pancreatic atrophy, Exocrine pancreatic insuffi... |
OMIM:137920 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis |
OMIM:606721 |
Meckel Syndrome |
|
Accessory spleen, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Cystic liver disease, Pa... |
ORPHA:564 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Hypothyroidism, Pseudohypoparathyroidism, Exocrine pa... |
ORPHA:116 |
Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism |
OMIM:147791 |
Alström Syndrome |
|
Primary hypothyroidism, Recurrent sinusitis, Splenomegaly, Decreased circulating T4 concentration... |
ORPHA:64 |
Distal Deletion 12Q |
|
Annular pancreas, Late onset atopic dermatitis, Biliary atresia, Unilateral cryptorchidism, Pitui... |
ORPHA:96149 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas |
ORPHA:488642 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Pancreatic fibrosis |
OMIM:263520 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Cryptorchidism |
OMIM:227646 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Cryptorchidism |
OMIM:268400 |
Trisomy 8P |
|
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:264450 |
Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis |
ORPHA:97297 |
Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Eczematoid dermatitis |
ORPHA:2308 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Cryptorchidism |
OMIM:616975 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Cryptorchidism, Polysplenia |
OMIM:229850 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Central hypothyroidism, Recurrent pneumonia, Hepatoblastoma, Streak ovary |
ORPHA:798 |
1P36 Deletion Syndrome |
|
Annular pancreas, Hypothyroidism, Abnormality of the spleen, Abnormality of the liver, Cryptorchi... |
ORPHA:1606 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Asplenia |
OMIM:265380 |