domingo, 27 de enero de 2019

Digestive Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Digestive Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Digestive Diseases

22q11.2 deletion syndrome 
Aagenaes syndrome 
Accessory pancreas 
Achalasia microcephaly syndrome 
Acrodermatitis enteropathica 
Acute fatty liver of pregnancy 
Adult polyglucosan body disease 
Adult-onset citrullinemia type II 
Agenesis of the dorsal pancreas 
Al-Gazali-Donnai-Mueller syndrome 
Alpers syndrome 
Alpha-1 antitrypsin deficiency 
Ankyloblepharon filiforme imperforate anus 
Annular pancreas 
Aplasia cutis congenita intestinal lymphangiectasia 
Arterial tortuosity syndrome 
Arthrogryposis renal dysfunction cholestasis syndrome 
Arts syndrome 
Atresia of small intestine 
Autoimmune gastrointestinal dysmotility 
Autoimmune hepatitis 
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 
Autosomal recessive early-onset inflammatory bowel disease 
Axenfeld-Rieger syndrome 
Baller-Gerold syndrome 
Bannayan-Riley-Ruvalcaba syndrome 
Bantu siderosis 
Bardet-Biedl syndrome 
Bardet-Biedl syndrome 1 
Bardet-Biedl syndrome 10 
Bardet-Biedl syndrome 11 
Bardet-Biedl syndrome 12 
Bardet-Biedl syndrome 2 
Bare lymphocyte syndrome 2 
Barrett esophagus - Not a rare disease 
Benign recurrent intrahepatic cholestasis 1 
Benign recurrent intrahepatic cholestasis 2 
Bifid nose with or without anorectal and renal anomalies 
Bile duct cancer 
Biliary atresia 
Boerhaave syndrome 
Budd-Chiari syndrome 
Cantu syndrome 
Caroli disease 
Cat eye syndrome 
Caudal regression syndrome 
Cerebrotendinous xanthomatosis 
Childhood hepatocellular carcinoma 
Cholestasis, progressive familial intrahepatic 4 
Cholesteryl ester storage disease 
Chronic granulomatous disease 
Chronic hiccups 
Chylomicron retention disease 
Chylous ascites 
Classical-like Ehlers-Danlos syndrome 
COACH syndrome 
Collagenous colitis - Not a rare disease 
Collagenous gastritis 
Congenital bile acid synthesis defect, type 1 
Congenital bile acid synthesis defect, type 2 
Congenital chloride diarrhea 
Congenital diaphragmatic hernia 
Congenital disorders of glycosylation 
Congenital lactase deficiency 
Congenital sucrase-isomaltase deficiency 
Cornelia de Lange syndrome 
Cowden syndrome 
Crigler Najjar syndrome, type 1 
Crigler-Najjar syndrome type 2 
Crohn's disease - Not a rare disease 
Cronkhite-Canada disease 
Currarino triad 
Cutaneous photosensitivity and colitis, lethal 
Cutis laxa, autosomal dominant 
Cutis laxa, autosomal recessive type 1 
Cystic fibrosis 
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia 
Deafness, dystonia, and cerebral hypomyelination 
Desmoplastic small round cell tumor 
Disseminated peritoneal leiomyomatosis 
Donnai-Barrow syndrome 
Dubin-Johnson syndrome 
Duodenal atresia 
Duodenal ulcer due to antral G-cell hyperfunction 
Emanuel syndrome 
Eosinophilic enteropathy 
Esophageal atresia 
Exstrophy of the bladder 
Familial caudal dysgenesis 
Familial pancreatic cancer 
Familial visceral myopathy with external ophthalmoplegia 
Fanconi Bickel syndrome 
Feingold syndrome 
Fraser syndrome 
Froster-Huch syndrome 
Fryns syndrome 
Galactokinase deficiency 
Galactose epimerase deficiency 
Gardner syndrome 
Gastrocutaneous syndrome 
Gastrointestinal Stromal Tumors 
Geroderma osteodysplastica 
Glucose-galactose malabsorption 
Glycogen storage disease type 1A 
Glycogen storage disease type 1B 
Glycogen storage disease type 3 
Glycogen storage disease type 6 
Goblet cell carcinoid 
Goldberg-Shprintzen megacolon syndrome 
GRACILE syndrome 
Hemochromatosis type 2 
Hemochromatosis type 3 
Hemochromatosis type 4 
Hepatic encephalopathy 
Hepatic veno-occlusive disease 
Hepatic venoocclusive disease with immunodeficiency 
Hereditary diffuse gastric cancer 
Hereditary folate malabsorption 
Hereditary fructose intolerance 
Hereditary hemorrhagic telangiectasia 
Hereditary hemorrhagic telangiectasia type 2 
Hereditary hemorrhagic telangiectasia type 3 
Hereditary hemorrhagic telangiectasia type 4 
Hereditary pancreatitis 
Hirschsprung disease type d brachydactyly 
Hirschsprung's disease 
Hyperbilirubinemia transient familial neonatal 
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 
Idiopathic achalasia 
Imerslund-Grasbeck syndrome 
Immunodysregulation, polyendocrinopathy and enteropathy X-linked 
Infantile liver failure syndrome 1 
Infantile onset spinocerebellar ataxia 
Intestinal atresia multiple 
Intrahepatic cholestasis of pregnancy 
Jejunal atresia 
Johanson-Blizzard syndrome 
Juvenile polyposis syndrome 
Kabuki syndrome 
Klatskin tumor 
Limb-body wall complex 
LRBA deficiency 
Lucey-Driscoll syndrome 
Lynch syndrome - Not a rare disease 
Mallory-Weiss syndrome 
Meckel syndrome 
Megacystis microcolon intestinal hypoperistalsis syndrome 
Megaduodenum and/or megacystis 
Menetrier disease 
Mental retardation skeletal dysplasia abducens palsy 
Microgastria limb reduction defect 
Microphthalmia syndromic 9 
Microphthalmia with linear skin defects syndrome 
Microvillus inclusion disease 
Mitochondrial neurogastrointestinal encephalopathy syndrome 
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
Muir-Torre syndrome 
Multiple endocrine neoplasia type 1 
Multiple endocrine neoplasia type 2A 
Multiple endocrine neoplasia type 2B 
Multisystemic smooth muscle dysfunction syndrome 
MURCS association 
Necrotizing enterocolitis 
Neonatal adrenoleukodystrophy 
Neonatal hemochromatosis 
Nodular regenerative hyperplasia 
Occipital horn syndrome 
Omphalocele cleft palate syndrome lethal 
Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 
Omphalomesenteric cyst 
Pallister-Hall syndrome 
Pallister-Killian mosaic syndrome 
Pancreatic adenoma 
Pancreatic cancer - Not a rare disease 
Pearson syndrome 
Pediatric Crohn's disease 
Pediatric ulcerative colitis 
Pentalogy of Cantrell 
Peutz-Jeghers syndrome 
Plummer Vinson syndrome 
Polycystic liver disease 
Primary biliary cholangitis 
Primary intestinal lymphangiectasia 
Primary liver cancer 
Primary sclerosing cholangitis 
Progressive familial intrahepatic cholestasis 1 
Progressive familial intrahepatic cholestasis type 2 
Progressive familial intrahepatic cholestasis type 3 
Pseudomyxoma peritonei 
Refsum disease, infantile form 
Renal nutcracker syndrome 
Retroperitoneal fibrosis 
Reynolds syndrome 
Ring chromosome 13 
Rotor syndrome 
Sacral defect with anterior meningocele 
Sandifer syndrome 
Satoyoshi syndrome 
SCARF syndrome 
Sclerosing mesenteritis 
Short rib-polydactyly syndrome type 3 
Shprintzen omphalocele syndrome 
Shwachman-Diamond syndrome 
Simpson-Golabi-Behmel syndrome 
Small Intestinal Adenocarcinoma 
Splenogonadal fusion limb defects micrognatia 
Stalker Chitayat syndrome 
STAR syndrome 
Superior mesenteric artery syndrome 
Syndromic microphthalmia, type 3 
Thoraco abdominal enteric duplication 
Townes-Brocks syndrome 
Transient infantile liver failure 
Trichohepatoenteric syndrome 
Triple A syndrome 
Trisomy 13 
Trisomy 18 
Tufting enteropathy 
Tylosis with esophageal cancer 
Tyrosinemia type 1 
Ulnar-mammary syndrome 
VACTERL association 
Waardenburg syndrome type 4 
Watermelon stomach 
Whipple disease 
Wilson disease 
Wolf-Hirschhorn syndrome 
Wolman disease 
Wrinkly skin syndrome 
Zellweger syndrome 
Zollinger-Ellison syndrome 

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