Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Hypoglycemia |
OMIM:601820 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, I... |
OMIM:615710 |
Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Abnormality of the dentition, Type I diabetes mellitus, Recurrent upper respiratory tract infecti... |
OMIM:615952 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash, Hep... |
OMIM:612714 |
Variant Abeta2M Amyloidosis |
|
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Hepatic... |
ORPHA:314652 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea... |
OMIM:615935 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ... |
OMIM:167800 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:618752 |
Perlman Syndrome |
|
High, narrow palate, Wide nasal bridge, Abnormal pancreas morphology, Abnormal upper lip morpholo... |
ORPHA:2849 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Cryptorchidism, Death in infancy, Aganglionic megacolon, Hypoh... |
ORPHA:452 |
Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n... |
ORPHA:2315 |
Mody |
|
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... |
ORPHA:552 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption |
ORPHA:309108 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... |
ORPHA:79084 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Nasal polyposis,... |
ORPHA:2869 |
Igg4-Related Thyroid Disease |
|
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... |
ORPHA:64744 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis, Anorexia |
ORPHA:313906 |
Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Exocrine pancreatic insufficiency, Death in childhood, Death in infancy, Hyperechogenic... |
OMIM:617941 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis |
OMIM:211400 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Dysphagia |
OMIM:618230 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Anorexia, Cirrhosis, Pancreatitis, Acholic stools, Jau... |
ORPHA:65682 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... |
ORPHA:1333 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Polydipsia, Abnormality of endocrine pancreas physiology, Abnormality of exocri... |
ORPHA:93111 |
Rauch-Steindl Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Exocrine pancreatic insufficiency, Chro... |
OMIM:619695 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... |
ORPHA:79493 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Adrenal insufficiency, Hepatic steatosis, Death in infancy, Pancreatitis, Anorexia |
OMIM:619386 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Diarrhea, Vomiting, Hypoglycemia, Pancreatitis |
OMIM:620137 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Thin upper lip vermilion, Hyperechogenic pancreas, Abnormal li... |
ORPHA:456312 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Choanal atresia, Depressed nasal bridge, Pancreatic hypoplasia, Long philtrum, ... |
OMIM:610199 |
Lipase Deficiency, Combined |
|
Pancreatitis, Type II diabetes mellitus |
OMIM:246650 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Thin upper lip vermilion,... |
OMIM:616263 |
Benign Schwannoma |
|
Nasal polyposis, Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, A... |
ORPHA:252164 |
Matthew-Wood Syndrome |
|
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... |
ORPHA:2470 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Nasal polyposis, Bile duct polyp, Bloody diarrhe... |
OMIM:175200 |
Deeah Syndrome |
|
Narrow mouth, Cryptorchidism, Decreased circulating free T3, Chronic constipation, Death in child... |
OMIM:619004 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Type I diabetes mellitus, Long philtrum, Exocrine pancreatic insufficienc... |
OMIM:618500 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Vomiting, Exocrine pancreatic insufficiency, Villous atrophy, Death in ... |
OMIM:557000 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Pancreatic adenocarcinoma, Chronic ca... |
ORPHA:103918 |
Dextrocardia |
|
Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotatio... |
ORPHA:1666 |
Cystic Fibrosis |
|
Nasal polyposis, Biliary cirrhosis, Bronchiectasis, Recurrent pneumonia, Diarrhea, Exocrine pancr... |
OMIM:219700 |
Feingold Syndrome |
|
Depressed nasal bridge, Annular pancreas, Abnormality of the spleen, Anteverted nares, Orofacial ... |
ORPHA:1305 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Death in infancy, Convex nasal ridge, Diabete... |
OMIM:609069 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary adrenal ... |
OMIM:269200 |
Bone Marrow Failure Syndrome 3 |
|
Downturned corners of mouth, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Cryptorchi... |
OMIM:617052 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft upper lip, Bifid uvula, High palate, Nasal polyposis |
OMIM:155145 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency, Anal atresia |
OMIM:260450 |
Trichohepatoneurodevelopmental Syndrome |
|
Recurrent otitis media, Hepatomegaly, High palate, Patent ductus arteriosus, Cholelithiasis, Gast... |
OMIM:618268 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
Melioidosis |
|
Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen... |
ORPHA:31202 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Wide nasal bridge, Depressed nasal bridge, Vomiting,... |
OMIM:619418 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Oral ulcer, Pancreatitis, ... |
OMIM:232220 |
Pai Syndrome |
|
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up... |
ORPHA:1993 |
Orofaciodigital Syndrome Type 1 |
|
Open bite, High palate, Chronic otitis media, Accessory oral frenulum, Choanal atresia, Hamartoma... |
ORPHA:2750 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Shwachman-Diamond Syndrome |
|
Pneumonia, Carious teeth, Delayed eruption of teeth, Pancreatic hypoplasia, Eczematoid dermatitis... |
ORPHA:811 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Acne, Nasal polyposis, Microglossia, Thick lower lip vermilion, ... |
ORPHA:530 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... |
ORPHA:234 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the liver, Abnormality of ... |
ORPHA:85443 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Anorexia |
ORPHA:79312 |
Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... |
ORPHA:31205 |
Cach Syndrome |
|
Vomiting, Hepatosplenomegaly, Optic neuritis, Pancreatitis, Dysphagia |
ORPHA:135 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Liver abscess, Cholecystitis, Sclero... |
ORPHA:69663 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Chronic diarrhea, Pancreatitis, Hepatic steatosis |
OMIM:618805 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Pa... |
OMIM:145001 |
Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... |
OMIM:155310 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Advanced eruption of tee... |
ORPHA:2348 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Sple... |
OMIM:618935 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Renal Cysts And Diabetes Syndrome |
|
Glycosuria, Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insu... |
OMIM:137920 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc... |
OMIM:600803 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia,... |
ORPHA:2255 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycys... |
ORPHA:79083 |
Pearson Syndrome |
|
Glycosuria, Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficie... |
ORPHA:699 |
Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatom... |
ORPHA:435651 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Downturned corne... |
ORPHA:99885 |
Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Skin rash, Infectious en... |
ORPHA:779 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Absent gallbladd... |
ORPHA:556955 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Type II diabetes mellitus, Iridocyclitis, Pancreatitis, Hypothyroidism,... |
ORPHA:412057 |
Cystic Fibrosis |
|
Nasal polyposis, Gastroesophageal reflux, Bronchiectasis, Meconium ileus, Exocrine pancreatic ins... |
ORPHA:586 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Anteverted nares, Congenital pyloric atresia, Underdeveloped nasal alae, Neonatal death |
OMIM:612138 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Pancreatitis, Dental crowding, Hepatic steatosis |
OMIM:236200 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Primary hypercortisolism, Ovarian cyst, Pancreatitis, Agita... |
OMIM:610475 |
Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency |
OMIM:260400 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... |
ORPHA:1667 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Glycosuria, Exocrine pancreatic insufficiency, Glucose intolerance, Narrow mouth, Cirrhosis |
OMIM:616539 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnorm... |
ORPHA:3032 |
Congenital Syphilis |
|
Pneumonia, Uveitis, Diarrhea, Keratitis, Hypoglycemia, Hepatosplenomegaly, Synovitis, Rhinitis, M... |
ORPHA:499009 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abnormal cementum morpholog... |
ORPHA:733 |
Maple Syrup Urine Disease, Type Ia |
|
Vomiting, Pancreatitis, Hypoglycemia |
OMIM:248600 |
Microscopic Polyangiitis |
|
Epistaxis, Gastrointestinal hemorrhage, Uveitis, Diarrhea, Gastrointestinal infarctions, Episcler... |
ORPHA:727 |
Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Dysphagia |
ORPHA:449427 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomach cancer, Abnorma... |
ORPHA:2494 |
Schimke Immuno-Osseous Dysplasia |
|
Depressed nasal bridge, Minimal change glomerulonephritis, Broad nasal tip, Abnormality of thyroi... |
ORPHA:1830 |
Propionic Acidemia |
|
Vomiting, Eczematoid dermatitis, Hypoglycemia, Constipation, Pancreatitis, Hepatomegaly |
OMIM:606054 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Diarrhea, Vomiting, Abnormal eating behavior, Hepatic steatosis, Aggressive beh... |
ORPHA:247585 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... |
OMIM:208540 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, Steatorrhea, Colitis |
ORPHA:309031 |
Neurofibroma |
|
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract... |
ORPHA:252183 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage... |
ORPHA:73263 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Pancreatic hypoplasia, Glycosuria, Intestinal malrotation, Hypergl... |
OMIM:600001 |
Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambiguus, Chronic sinusitis... |
OMIM:617092 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
Mehmo Syndrome |
|
Cleft lip, Broad nasal tip, Long philtrum, Widely spaced teeth, Decreased response to growth horm... |
OMIM:300148 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Dysphagia, Melena, Nausea, Maculopapu... |
ORPHA:319218 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Retroperitoneal fibrosis, Sialadenitis, Orchitis, Prostatitis, Abnormality of the ante... |
ORPHA:449563 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Depressed nasal bridge, Exocrine pancreatic insufficiency, De... |
OMIM:620005 |
Legionnaires Disease |
|
Diarrhea, Hepatitis, Anorexia, Splenomegaly, Infectious encephalitis, Pancreatitis, Recurrent pha... |
ORPHA:549 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Anorexia, Endocardit... |
ORPHA:2552 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... |
ORPHA:157798 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Wide nasal bridge, Cholelithiasis, Pancreatic hypoplasia, Underdeveloped nasal alae, Eczematoid d... |
ORPHA:83617 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
17Q12 Microdeletion Syndrome |
|
Diabetes mellitus, Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Hypoglycemia, Pancreatitis, Hepatomegaly, Tubulointerstitial nephritis |
OMIM:251000 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Bronchiectasis, Polysplenia, Nasal congestion, Intestinal malrotation, Recurrent... |
ORPHA:244 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... |
ORPHA:79078 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Colonic stenosis... |
ORPHA:90038 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormal intestine morphology, Hepatomegaly, Pancreatic cysts, Cleft palate, Ab... |
ORPHA:1318 |
Mirizzi Syndrome |
|
Cholelithiasis, Vomiting, Anorexia, Nausea, Pancreatitis, Abnormal ductus choledochus morphology,... |
ORPHA:521219 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Dental malocclusion, Hepatitis, Increased circulating prolactin concentr... |
ORPHA:562 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism |
OMIM:600740 |
Microphthalmia, Syndromic 12 |
|
Wide nasal bridge, Broad nasal tip, Intestinal malrotation, Cryptorchidism, Neonatal death, Cleft... |
OMIM:615524 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis, Diabetic ketoacidosis |
ORPHA:70578 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Carious teeth, Periodontitis, Diarrhea, Hepatic steatosis, O... |
ORPHA:79259 |
Atelosteogenesis Type I |
|
Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology |
ORPHA:1190 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino... |
ORPHA:144 |
Beckwith-Wiedemann Syndrome |
|
Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Cryptorchidism, Ps... |
ORPHA:116 |
Familial Mediterranean Fever |
|
Diarrhea, Oral leukoplakia, Erysipelas, Gastrointestinal infarctions, Splenomegaly, Intestinal ob... |
ORPHA:342 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Cholestasis, Exocrine pancreatic i... |
OMIM:300972 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm... |
ORPHA:480520 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Gout, Pancreatitis, Fasting hypoglycemia, Hepatomegaly, Intermittent diarrhea, Hepa... |
OMIM:232200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Vomiting, Hypoglycemia, Hepatic periportal necrosis, Dysphagia, Hepatomeg... |
ORPHA:26791 |
Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... |
OMIM:619991 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pancreatitis, Anorexia, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas |
ORPHA:370348 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Polydipsia, Tracheoesophageal fistula, Pancreatitis, Conjunctivitis,... |
ORPHA:537 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Abn... |
ORPHA:449395 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Splenomegaly, Iridocyclitis, Arthr... |
OMIM:181000 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol... |
ORPHA:79086 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Diarrhea, Vomiting, Hypoglycemia, Hyperinsulinemia, Abnormal intestine morphology |
OMIM:606528 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Polydipsia, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Constipatio... |
ORPHA:99880 |
Bohring-Opitz Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Cleft upper lip, Supernumerar... |
OMIM:605039 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia, Cryptorchidism, Abnormal palate morphology |
ORPHA:2022 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Diarrhea, Pancreatitis, Pericarditis |
ORPHA:188 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hepatosplenomegaly, Hepatic steatosis, Perianal abscess, Recurrent pancreatit... |
ORPHA:444490 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun... |
ORPHA:171 |
Acute Lung Injury |
|
Pneumonia, Addictive alcohol use, Acute pancreatitis |
ORPHA:178320 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Pituitary prolactin cell adenoma, Recurrent hypoglycem... |
ORPHA:97279 |
Parathyroid Carcinoma |
|
Peptic ulcer, Polydipsia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid ... |
ORPHA:143 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Constipation, High palate, Patent duc... |
OMIM:618162 |
Feingold Syndrome 1 |
|
Accessory spleen, Wide nasal bridge, Annular pancreas, Polysplenia, Depressed nasal tip, Antevert... |
OMIM:164280 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis, Parathyroid adenoma |
OMIM:145980 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Pancreatitis, Conjunctivitis, Dysphagia, Esophageal stricture |
ORPHA:36426 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Gastroesophageal reflux, Skin rash, Intestinal obstruction, Increased inflammato... |
ORPHA:183 |
Blau Syndrome |
|
Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Splenomegaly, Skin rash, Syno... |
ORPHA:90340 |
Seckel Syndrome 10 |
|
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... |
OMIM:617253 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Advanced eruption of tee... |
ORPHA:280365 |
Distal Deletion 12Q |
|
Obsessive-compulsive trait, Patent ductus arteriosus, Duodenal atresia, High, narrow palate, Annu... |
ORPHA:96149 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Prominent nose, Anteverted nares, Congenital hepatic fibrosis, Prolonged neonatal j... |
ORPHA:446 |
Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Choanal atresia, Anosmia, A... |
ORPHA:2363 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... |
ORPHA:544482 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... |
ORPHA:1876 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:614935 |
Granulomatosis With Polyangiitis |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormality of the nose, Otitis media, Intestinal obstruc... |
ORPHA:900 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Depressed nasal bridge, Broad nasal tip, Hypoglycemia, Thin upper lip vermilion... |
OMIM:232400 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Aceruloplasminemia |
|
Diabetes mellitus, Elevated hepatic iron concentration, Abnormal pancreas morphology |
ORPHA:48818 |
Pauci-Immune Glomerulonephritis |
|
Arteritis, Oral ulcer, Scleritis, Abnormality of the gastrointestinal tract, Pancreatitis, Glomer... |
ORPHA:93126 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Splenomegaly, Oral ulcer, Orchitis, I... |
ORPHA:117 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Wide nasal bridge, Gastrointestinal hemorrhage, Gastroesophageal ref... |
ORPHA:508488 |
Johanson-Blizzard Syndrome |
|
Cryptorchidism, Death in childhood, Hepatomegaly, Anal atresia, Rectovaginal fistula, Intrahepati... |
OMIM:243800 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gl... |
OMIM:154500 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis |
OMIM:615518 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Wide nasal bridge, Long philtrum, Exocrine pancreatic insufficiency, Thin upper lip vermilion, Mo... |
ORPHA:508498 |
Alagille Syndrome 1 |
|
Depressed nasal bridge, Cholestasis, Exocrine pancreatic insufficiency, Bulbous nose, Reduced num... |
OMIM:118450 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Hypoglycemia, ... |
OMIM:232240 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Choanal atresia, Carious teeth, Xerostomia, Broad nasal tip, Selective tooth agenesis, Cleft uppe... |
OMIM:129900 |
Kikuchi-Fujimoto Disease |
|
Malar rash, Enlargement of parotid gland, Splenomegaly, Oral ulcer, Skin rash, Pustule, Myocardit... |
ORPHA:50918 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
OMIM:151660 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Choanal atresia, Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper ... |
OMIM:604292 |
Melas |
|
Type I diabetes mellitus, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Type II diabetes mel... |
ORPHA:550 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms, Nasal congestion |
OMIM:616037 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Long philtrum, Cryptorchidism, Hepatomegaly, Dysphagia |
OMIM:618958 |
Jacobsen Syndrome |
|
Wide nasal bridge, Annular pancreas, Broad columella, Long philtrum, Eczematoid dermatitis, Intes... |
ORPHA:2308 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Aspleni... |
OMIM:244400 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Depressed nasal bridge, Pancreatic fibrosis |
OMIM:615503 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:615444 |
Cystinosis, Nephropathic |
|
Polydipsia, Glycosuria, Exocrine pancreatic insufficiency, Splenomegaly, Primary hypothyroidism, ... |
OMIM:219800 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal... |
OMIM:263200 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters |
OMIM:619817 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Cholestasis, Decreased circulating... |
OMIM:608104 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Rec... |
OMIM:147060 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad alveolar ridges, Choanal atresia, Cleft lip, Annular pancreas, Gastroesophageal reflux, Fur... |
OMIM:616975 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Wide nasal bridge, Hepatic sinusoidal dilatation, Bulbous nose, Anteverted nares, Tented upper li... |
OMIM:620371 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Nonketotic hypoglycemia, Epi... |
ORPHA:20 |
Fryns Syndrome |
|
Wide nasal bridge, Ectopic pancreatic tissue, Meckel diverticulum, Long philtrum, Cleft upper lip... |
OMIM:229850 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Inflammatory abnormality of the skin, Eczematoid dermatitis, Vomiting, Hepatospl... |
ORPHA:3260 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infestation, Decreased response to gr... |
OMIM:615577 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper l... |
OMIM:263520 |
Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Pancreatitis |
ORPHA:405 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula, Gingival fibrom... |
ORPHA:2591 |
Mhc Class I Deficiency 1 |
|
Nasal polyposis |
OMIM:604571 |
Perlman Syndrome |
|
Wide nasal bridge, Distal ileal atresia, Depressed nasal bridge, Volvulus, Everted upper lip verm... |
OMIM:267000 |
Jacobsen Syndrome |
|
Depressed nasal bridge, Annular pancreas, Anteverted nares, Cryptorchidism, U-Shaped upper lip ve... |
OMIM:147791 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Self-mutilation, Ch... |
OMIM:619487 |
Nephronophthisis 13 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:614377 |
Marburg Hemorrhagic Fever |
|
Uveitis, Diarrhea, Vomiting, Hypoglycemia, Bloody diarrhea, Skin rash, Orchitis, Aggressive behav... |
ORPHA:99826 |
Ciliary Dyskinesia, Primary, 5 |
|
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Pyloric stenosis |
ORPHA:664 |
Fetal Gaucher Disease |
|
Depressed nasal bridge, Abnormality of the spleen, Anteverted nares, Splenomegaly, Death in infan... |
ORPHA:85212 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Agen... |
OMIM:268400 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Hypohidrosis, Attention deficit... |
ORPHA:281090 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus |
ORPHA:412 |
Glycerol Kinase Deficiency |
|
Vomiting, Downturned corners of mouth, Hypoglycemia, Adrenal insufficiency, Chronic pancreatitis,... |
OMIM:307030 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Bilateral cryptorchidism |
OMIM:619471 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Polyph... |
OMIM:608594 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts |
OMIM:616307 |
Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Glucose intolerance, Narrow mou... |
OMIM:606721 |
Lysinuric Protein Intolerance |
|
Diarrhea, Vomiting, Hepatic amyloidosis, Decreased response to growth hormone stimulation test, H... |
ORPHA:470 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Diarrhea, Morbilliform rash, Erythema nodosum, Anorexia, Hepatomegaly, Jaundic... |
ORPHA:99827 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Death in infancy, Neonatal death, Rectal atresia, Anal atresia, Miscarriage |
OMIM:613390 |
Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Annular pa... |
ORPHA:264450 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Nephritis, Death in infancy, Bile duct proliferation, Pancreatic fibrosis, Jaun... |
OMIM:208500 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ankyloglossia, Annular pancreas, Downturned corners of mouth, Cleft palate |
ORPHA:488642 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries,... |
OMIM:269700 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Type I diabetes mellitus, Inflammation of the large intestine, Rec... |
ORPHA:436159 |
Sarcoidosis |
|
Bronchiectasis, Parotitis, Enlargement of parotid gland, Portal hypertension, Maculopapular exant... |
ORPHA:797 |
Yellow Fever |
|
Diarrhea, Vomiting, Pancreatic hyperplasia, Skin rash, Nausea, Hematemesis, Jaundice, Acute pancr... |
ORPHA:99829 |
Mednik Syndrome |
|
Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Death in childhood, Death in infan... |
OMIM:609313 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus |
ORPHA:565612 |
Coccidioidomycosis |
|
Pneumonia, Folliculitis, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, ... |
ORPHA:228123 |
Hyperlipoproteinemia, Type I |
|
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Jaundice, Acute pancreatitis |
OMIM:238600 |
Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Bile duct proliferation,... |
OMIM:267010 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip |
OMIM:137215 |
Intellectual Developmental Disorder, X-Linked 112 |
|
Gastroesophageal reflux, Volvulus, Pyelonephritis, Cryptorchidism, Gastrointestinal dysmotility, ... |
OMIM:301111 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Cryptorchidism, Attention deficit hyperactivity disorder, Tracheoesophageal fis... |
OMIM:227646 |
Bohring-Opitz Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Cholelithiasis, Cleft lip, Annular pancreas, Vomiting,... |
ORPHA:97297 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Narrow mouth, Cryptorchidism, Hepatic steatosis, Abnormal intestine mo... |
ORPHA:1606 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Macroglossia, Neonatal hypo... |
OMIM:130650 |
Meckel Syndrome |
|
Accessory spleen, Depressed nasal ridge, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Crypt... |
ORPHA:564 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Death in childhood, Death in infancy, Neonatal death, Death in adol... |
OMIM:202400 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Recurrent upper respiratory tract infections, Diarrhea, Eczematoid dermatitis... |
OMIM:616100 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolac... |
OMIM:131100 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Long philtrum, Supernumerary nipple, Hypoglycemia, Submucous cleft hard... |
ORPHA:457279 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatic steatosis, Cholecystitis, Pineal cyst, Hepatomegaly, Diabetes mellitus |
ORPHA:98908 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant... |
OMIM:619859 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Intestina... |
OMIM:265380 |
Lysinuric Protein Intolerance |
|
Vomiting, Diarrhea, Splenomegaly, Pancreatitis, Hepatomegaly, Nausea |
OMIM:222700 |
Neutral Lipid Storage Disease With Myopathy |
|
Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus |
OMIM:610717 |
Immunodeficiency 59 And Hypoglycemia |
|
Wide nasal bridge, Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Hypogly... |
OMIM:233600 |
Orofaciodigital Syndrome I |
|
Wide nasal bridge, Hepatic fibrosis, Carious teeth, Cleft upper lip, Underdeveloped nasal alae, H... |
OMIM:311200 |
Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... |
OMIM:613027 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Type I diabetes mellitus, Cholelithiasis, Diarrhea, Chronic mucocutaneous can... |
OMIM:240300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenal hyperplasia, Hypoglycemia |
OMIM:201910 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Vomiting, Diarrhea |
ORPHA:677 |
Boomerang Dysplasia |
|
Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Neonatal death |
OMIM:112310 |
Mednik Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:171851 |
Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Broad nasal tip, Annular pancreas, Delayed eruption of teeth, Anteriorly pla... |
ORPHA:798 |
Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ... |
ORPHA:276152 |
Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Pheochromocytoma, Pancreatic cysts, Neoplasm of the pancreas |
OMIM:193300 |
Shigellosis |
|
Pneumonia, Vomiting, Hypoglycemia, Ulcerative colitis, Cholestasis, Bloody diarrhea, Paralytic il... |
ORPHA:810 |
Granulomatosis With Polyangiitis |
|
Keratitis, Nasal mucosa vasculitis, Episcleritis, Oral ulcer, Sinusitis, Concave nasal ridge, Con... |
OMIM:608710 |
Scorpion Envenomation |
|
Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Hyperhidrosis, Myocarditis, Restlessness, Acute pa... |
ORPHA:466677 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Polydipsia, Abnormal mesentery morphology, Constipation, Diabetes me... |
ORPHA:3463 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Diarrhea, Pituitary adenoma, Hepatitis, Hypoglycemia, Graves disease, A... |
ORPHA:199299 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... |
OMIM:149730 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Vomiting, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertensio... |
ORPHA:284 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Hypoglycemia, Cholestasis, Hepatic steatos... |
ORPHA:264580 |
Irida Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis |
ORPHA:209981 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Steatorrhea |
OMIM:605911 |
Williams Syndrome |
|
Carious teeth, Open bite, Death in early adulthood, Type II diabetes mellitus, Cryptorchidism, Ov... |
ORPHA:904 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Pyelonephritis, Hepatic cysts, Pancreatic cysts, Polycysti... |
ORPHA:730 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... |
ORPHA:51636 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Pancreatic cysts |
ORPHA:464329 |
Glucocorticoid Deficiency 2 |
|
Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Decreased ci... |
OMIM:607398 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Death in infancy, Hypothyroidism |
ORPHA:95496 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Xerostomia, Hepat... |
ORPHA:227982 |
Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly... |
ORPHA:64 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Xerostomia, Hepat... |
ORPHA:227990 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Wide nasal bridge, Bifid uvula, Hepatic fibrosis, Depressed nasal bridge, Widely spaced teeth, Ch... |
OMIM:266920 |
Polyendocrine-Polyneuropathy Syndrome |
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Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Abnorm... |
OMIM:616113 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Paral... |
OMIM:276700 |
Syndromic Diarrhea |
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Wide nasal bridge, Hepatic fibrosis, Intractable diarrhea, Bloody diarrhea, Abnormality of the li... |
ORPHA:84064 |
Von Hippel-Lindau Disease |
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Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Hyperhidrosis, Myocarditis, Pancreatic c... |
ORPHA:892 |
Addison Disease |
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Type I diabetes mellitus, Diarrhea, Hypoglycemia, Primary adrenal insufficiency, Hashimoto thyroi... |
ORPHA:85138 |
Immunodeficiency 82 With Systemic Inflammation |
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Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Oral ulcer, Anorexia, Recur... |
OMIM:619381 |
Thrombocytopenia-Absent Radius Syndrome |
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Meckel diverticulum, Hepatosplenomegaly, Anteverted nares, Death in infancy, Seborrheic dermatiti... |
OMIM:274000 |
Autoinflammatory Disease, Systemic, With Vasculitis |
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Hepatic fibrosis, Atopic dermatitis, Diarrhea, Conjunctivitis, Parotitis, Cholestasis, Hepatosple... |
OMIM:620376 |
Coffin-Siris Syndrome 1 |
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Cryptorchidism, High palate, Duodenal ulcer, Patent ductus arteriosus, Gastric ulcer, Choanal atr... |
OMIM:135900 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Bacterial endocarditis, Abnormality o... |
ORPHA:2072 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Recurrent upper respiratory tract infections, Conjunctivitis, Thick lower lip vermilion, Parotiti... |
OMIM:256040 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric hypertrophy, Hyperhidrosis, Gastric ulcer, Arthritis |
OMIM:161700 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Duodenal ulcer, Gastric ulcer, Esophageal ulceration |
OMIM:618372 |
Arteriosclerosis, Severe Juvenile |
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Gastric ulcer |
OMIM:208060 |
Primary Sjögren Syndrome |
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Biliary cirrhosis, Xerostomia, Arteritis, Parotitis, Chronic hepatitis, Lymphocytic interstitial ... |
ORPHA:289390 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased circulating cortisol level, Hypoglycemia, Adrenal hyperplasia, Decreased circulating al... |
ORPHA:786 |
Sacral Agenesis With Vertebral Anomalies |
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Anal atresia, Persistent cloaca, Neonatal death |
OMIM:615709 |
Cowden Syndrome 7 |
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Ductal carcinoma in situ, Hashimoto thyroiditis, Intestinal polyposis, Goiter |
OMIM:616858 |
Cowden Syndrome |
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Goiter, Furrowed tongue, Enlarged polycystic ovaries, Hamartomatous polyposis, Adenoma sebaceum, ... |
ORPHA:201 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |