| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Reduced C-peptide level, Pancreatic hypoplasia, Pancreatic apl... |
OMIM:260370 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia |
OMIM:246650 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... |
OMIM:243300 |
| Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
| Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... |
OMIM:615710 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Elevated circulating C-reactive prote... |
ORPHA:676 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis |
OMIM:619290 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... |
OMIM:167800 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries |
ORPHA:79084 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Chronic pancreatitis, Gout, Hyperuricemia, Hyperlipidemia, H... |
OMIM:232240 |
| Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Hepatic steatosis, Chol... |
ORPHA:98908 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating ... |
OMIM:619386 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hyperammonemia |
OMIM:620137 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypoalbuminemia |
OMIM:618805 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep... |
ORPHA:65682 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... |
OMIM:600803 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Chronic pancreatitis, Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... |
ORPHA:2470 |
| Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... |
OMIM:615947 |
| Mody |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Abnormal circu... |
ORPHA:552 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
| Morm Syndrome |
|
Aggressive behavior, Retinal atrophy, Hyperactivity, Retinal dystrophy |
ORPHA:75858 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent... |
OMIM:610199 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Hyperammonemia |
ORPHA:289916 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia |
OMIM:145980 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Hyperammonemia, Pancreatitis, Splenomegaly |
ORPHA:79312 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Peptic ulcer, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism |
OMIM:145981 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti... |
ORPHA:69663 |
| Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio... |
ORPHA:1666 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly |
ORPHA:435651 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Hyperammonemia |
ORPHA:27 |
| Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating L-alloisoleucine concentration, Pancreatitis, Elevated circulating branched ... |
OMIM:248600 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Acute Lung Injury |
|
Pneumonia, Increased circulating surfactant protein level, Acute pancreatitis, Elevated circulati... |
ORPHA:178320 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Has... |
ORPHA:64744 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... |
ORPHA:93111 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoamylasemia, Absent gallbladder, Reduced C-peptide level, High palate, Pancreatic aplasia |
ORPHA:556955 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased circulating carnitine concentration, Abnormal circulating carnitine concentration, Aspi... |
ORPHA:431361 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Splenomegaly, Hyperuricemia, Hyperlipidemia, Pancreati... |
OMIM:232220 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepat... |
ORPHA:247585 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis |
ORPHA:70578 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Elevated circulating creatinine concent... |
OMIM:137920 |
| Cach Syndrome |
|
Optic neuritis, Hepatosplenomegaly, Pancreatitis, Nonketotic hyperglycinemia |
ORPHA:135 |
| Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin r... |
ORPHA:99829 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly, Tubulointerstitial nephritis, Methyl... |
OMIM:251000 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level, Ovarian cyst |
OMIM:610475 |
| Familial Chylomicronemia Syndrome |
|
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... |
ORPHA:444490 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cryptorchidism, Cardiomegaly, Hepatoblastoma, Hepatomegaly, Macroglossia,... |
OMIM:130650 |
| Propionic Acidemia |
|
Eczematoid dermatitis, Hyperglycinemia, Hyperammonemia, Pancreatitis, Hepatomegaly |
OMIM:606054 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, Pancreatitis, Hype... |
ORPHA:79083 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pancreatitis, Pericarditis |
ORPHA:188 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Sple... |
OMIM:618935 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatome... |
ORPHA:2348 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Peptic ulcer, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath... |
OMIM:600740 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity |
OMIM:300928 |
| Mirizzi Syndrome |
|
Cholelithiasis, Hyperbilirubinemia, Pancreatitis, Abnormal ductus choledochus morphology, Gallbla... |
ORPHA:521219 |
| Shwachman-Diamond Syndrome |
|
Pneumonia, Hypoamylasemia, Pancreatic hypoplasia, Eczematoid dermatitis, Hypopituitarism, Exocrin... |
ORPHA:811 |
| Legionnaires Disease |
|
Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocarditis, Jaundi... |
ORPHA:549 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Reduced pancreatic beta cells, Pancreatic hypoplasia |
ORPHA:99885 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hepatic s... |
ORPHA:412 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... |
ORPHA:48818 |
| Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... |
OMIM:602782 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Hepatic steatosis, Pancreatitis, Hyperhomocystinemia, High palate |
OMIM:236200 |
| Microscopic Polyangiitis |
|
Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art... |
ORPHA:727 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Elevated carcinoma antigen 125 level, Pancreatitis, Jaundice, Ovarian neoplasm, Neoplasm of the p... |
ORPHA:370348 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Meconium ileus, Exocrine pancreatic insufficiency, Hepato... |
OMIM:219700 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Hypersplenism, Hyperbilirubinemia, Portal hypertension, Congenital hepa... |
ORPHA:480520 |
| Glycogen Storage Disease Ia |
|
Gout, Hyperlipidemia, Hyperuricemia, Pancreatitis, Hepatomegaly, Enlarged kidney, Hepatocellular ... |
OMIM:232200 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hyper... |
ORPHA:79086 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:614377 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intestinal... |
ORPHA:2255 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Iridocyclitis, Pancreatitis |
ORPHA:412057 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa... |
OMIM:619991 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Elevated circulating creatine... |
ORPHA:565612 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Rectal prolapse, Hypokalemia, Hyponatremia, Perito... |
ORPHA:90038 |
| Mccune-Albright Syndrome |
|
Hepatitis, Increased circulating prolactin concentration, Goiter, Cholestasis, Increased circulat... |
ORPHA:562 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Cryptorchidism, Superficial dermal ... |
ORPHA:83617 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Pancreatitis, Hypocalcemic seizures, Hyper... |
ORPHA:405 |
| Phenylketonuria |
|
Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, Aggres... |
OMIM:261600 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom... |
ORPHA:2552 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Celi... |
ORPHA:171 |
| Ebola Hemorrhagic Fever |
|
Maculopapular exanthema, Acute pancreatitis, Hepatitis |
ORPHA:319218 |
| Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High palate, Steatorrhea |
OMIM:617941 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:26791 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Elevated circulating C-reactive pro... |
ORPHA:449427 |
| Visceral Myopathy 1 |
|
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
| Seckel Syndrome 10 |
|
Elevated circulating luteinizing hormone level, Hepatic steatosis, Elevated circulating follicle ... |
OMIM:617253 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Absent gallbladder,... |
OMIM:600001 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Pancreatitis, Bilateral cryptorchidism |
OMIM:619471 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, High palate, Absent gallbladder, Pancreatic aplasia |
OMIM:618500 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Ch... |
OMIM:619487 |
| Congenital Syphilis |
|
Pneumonia, Keratitis, Hepatosplenomegaly, High palate, Synovitis, Pancreatitis, Myocarditis, Prol... |
ORPHA:499009 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... |
ORPHA:449395 |
| Pancreatoblastoma |
|
Pancreatic calcification, Jaundice |
ORPHA:677 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Hyperlipidemia, Abnormal in... |
ORPHA:1830 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Hypophosphatemia, Pancr... |
ORPHA:99880 |
| Pauci-Immune Glomerulonephritis |
|
Arteritis, Elevated circulating creatinine concentration, Scleritis, Pancreatitis, Glomerulonephr... |
ORPHA:93126 |
| Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Stomach cancer, Duodenal adenocarcinoma, Du... |
ORPHA:733 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level |
OMIM:218030 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Ulcerative colitis, Gout, Hepatic steatosis, ... |
ORPHA:79259 |
| Campomelia, Cumming Type |
|
Abnormal intestine morphology, Abnormality of the pancreas, Hepatomegaly, Pancreatic cysts, Cleft... |
ORPHA:1318 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... |
ORPHA:470 |
| Parathyroid Carcinoma |
|
Peptic ulcer, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ... |
ORPHA:143 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pan... |
ORPHA:280365 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration, Splenomega... |
OMIM:222700 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Colon cancer, Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituita... |
ORPHA:449563 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatic steatosis, Polycystic ovaries, Hypercholesterole... |
OMIM:151660 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c... |
OMIM:208500 |
| Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert... |
OMIM:267010 |
| Familial Mediterranean Fever |
|
Erysipelas, Oral leukoplakia, Splenomegaly, Skin rash, Orchitis, Intestinal obstruction, Peritoni... |
ORPHA:342 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, High palate, Annular pancreas, Eczematoid dermatitis |
OMIM:618162 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypothyroidism, Pancreati... |
OMIM:616263 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... |
OMIM:263200 |
| Zygomycosis |
|
Colon perforation, Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Ileitis, Pe... |
ORPHA:73263 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level, Adrenal hyperplasia, Glucocortocoid-insensitive p... |
ORPHA:231580 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperammonemia, Hyperuricemia, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Acute p... |
ORPHA:20 |
| Granulomatosis With Polyangiitis |
|
Otitis media, Skin rash, Intestinal obstruction, Increased inflammatory response, Prostatitis, Pa... |
ORPHA:900 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Recurrent otitis media, Splenomegaly, Increase... |
OMIM:618268 |
| Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hyperbilirubinemia, Villous atrophy, Punctate keratitis, Macro... |
OMIM:557000 |
| Behçet Disease |
|
Recurrent aphthous stomatitis, Splenomegaly, Orchitis, Increased inflammatory response, Myositis,... |
ORPHA:117 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Toxic Epidermal Necrolysis |
|
Conjunctivitis, Tracheoesophageal fistula, Pancreatitis, Intestinal perforation |
ORPHA:537 |
| Coccidioidomycosis |
|
Pneumonia, Folliculitis, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, ... |
ORPHA:228123 |
| Bone Marrow Failure Syndrome 3 |
|
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Cryptorchidism, Hyperechogenic pancreas... |
OMIM:617052 |
| Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis, Esophageal stricture |
ORPHA:36426 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Hypertensive retinopathy, Polydipsia, Decreased circulating renin level |
ORPHA:320 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration, Pyelonephri... |
ORPHA:730 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Hypocalcemia, Hyponatremia, Pancreatitis, Myocarditis, Septic arthritis, Hyperkalemia,... |
ORPHA:544482 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Ovarian neoplasm, Decreased circulating renin level, Glucocortocoid-insensitive prim... |
ORPHA:231632 |
| Bohring-Opitz Syndrome |
|
Supernumerary nipple, Intestinal malrotation, Bilateral cleft palate, Hyperechogenic pancreas, Un... |
OMIM:605039 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Pheochromocytoma, Pancreatic cysts, Neoplasm of the pancreas |
OMIM:193300 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Uveitis, Elevated circulating creatinine concentration, Hyperamylasemia, Skin ra... |
ORPHA:99826 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertriglyceridemia, Hepatomegal... |
OMIM:608594 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertriglyceridemia, Hepatomegal... |
OMIM:269700 |
| Pearson Syndrome |
|
Hypomagnesemia, Decreased response to growth hormone stimulation test, Exocrine pancreatic insuff... |
ORPHA:699 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatosplenomegaly,... |
ORPHA:3260 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Pancreatic fibrosis,... |
OMIM:263520 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
| Meckel Syndrome |
|
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, Congenital h... |
ORPHA:564 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Cardiomegaly, Pancrea... |
OMIM:620371 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ankyloglossia, Annular pancreas, Cleft palate |
ORPHA:488642 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, P... |
ORPHA:116 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... |
ORPHA:284 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Congenital adrenal hype... |
ORPHA:90793 |
| Melas |
|
Hypoparathyroidism, Recurrent pancreatitis, Hypothyroidism, Intestinal pseudo-obstruction |
ORPHA:550 |
| Scorpion Envenomation |
|
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... |
ORPHA:466677 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased testicular size, Decreased circulating renin level, Hyp... |
OMIM:202010 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Splenomegaly,... |
ORPHA:99827 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Pyloric stenosis |
OMIM:147791 |
| Distal Deletion 12Q |
|
High, narrow palate, Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenom... |
ORPHA:96149 |
| Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Annular pancreas, Cryptorchidism, Anteriorly placed anus |
OMIM:268400 |
| Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Tracheoesophageal fistula, Annular pancreas, Cryptorchidism |
OMIM:227646 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Pancreatic cysts, Enlarged kidney |
ORPHA:464329 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Annular pancreas, Cleft palate |
ORPHA:97297 |
| Fryns Syndrome |
|
Meckel diverticulum, Polysplenia, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, ... |
OMIM:229850 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Polycystic ovaries, Decreased circulating cortisol level, Hypo... |
ORPHA:90795 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of ... |
ORPHA:264450 |
| Jacobsen Syndrome |
|
Annular pancreas, Eczematoid dermatitis, Intestinal malrotation, Cryptorchidism, Ectopic anus, Ab... |
ORPHA:2308 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Furrowed tongue, Cryptorchidism, High palate, Duodenal atresia |
OMIM:616975 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Volvulus, Pyelonephritis, Pancreatic cysts, Cryptorchidism |
OMIM:301111 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Elevated circulating creatinine concentration, Abnormal retinal vascular morpholog... |
ORPHA:247691 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Annular pancreas, Meckel diverticulum, Duodenal atresia, In... |
OMIM:265380 |
| Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Hyperhidrosis, Myocarditis, Pancreatic c... |
ORPHA:892 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Left ventricular hypertrophy, Primary hyperaldosteronism, Decreased circulating reni... |
OMIM:615474 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level, Increased circulating cortisol level, Glucocortoc... |
ORPHA:231625 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Hepatic cysts, Ovarian cyst, Bifid tongue, ... |
OMIM:311200 |
| Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Anteriorly placed anus, Streak ova... |
ORPHA:798 |
| 1P36 Deletion Syndrome |
|
Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Cryptor... |
ORPHA:1606 |
| Orofaciodigital Syndrome Type 1 |
|
Tongue nodules, Exocrine pancreatic insufficiency, Hamartoma of tongue, High palate, Pancreatic c... |
ORPHA:2750 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre... |
OMIM:612716 |
| Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hepatic steatosi... |
ORPHA:64 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Anteriorly placed anus, Adrenal insufficiency, Cryptorchidism, Ovarian cyst, Polycystic ovaries, ... |
OMIM:201750 |
