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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Digestive Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* 22q11.2 deletion syndrome
* Aagenaes syndrome
* Abetalipoproteinemia
* Acanthocytosis
* Accessory pancreas
* Achalasia
* Achalasia microcephaly syndrome
* Achalasia, familial esophageal
* Acrodermatitis enteropathica
* Agenesis of the dorsal pancreas
* Al-Gazali-Donnai-Mueller syndrome
* Alpha 1-antitrypsin deficiency
* Ankyloblepharon filiforme imperforate anus
* Annular pancreas
* Aplasia cutis congenita intestinal lymphangiectasia
* Arterial tortuosity syndrome
* Arts syndrome
* Atresia of small intestine
* Autoimmune hepatitis
* Axenfeld-Rieger syndrome
* Baller-Gerold syndrome
* Bannayan-Riley-Ruvalcaba syndrome
* Bantu siderosis
* Bardet-Biedl syndrome
*   Barrett syndrome
* Benign recurrent intrahepatic cholestasis 1
* Benign recurrent intrahepatic cholestasis 2
* Bifid nose with or without anorectal and renal anomalies
* Bile acid synthesis defect, congenital, 2
* Biliary atresia
* Biliary atresia extrahepatic
* Boerhaave syndrome
* Budd-Chiari syndrome
* Cantu syndrome
* Caroli disease
* Cat Eye syndrome
* Caudal regression syndrome
* Cerebrotendinous xanthomatosis
* Cholestasis, progressive familial intrahepatic 1
* Cholestasis, progressive familial intrahepatic 2
* Cholestasis, progressive familial intrahepatic 3
* Cholestasis, progressive familial intrahepatic 4
* Chronic hiccups
* Chylomicron retention disease
* Chylous ascites
* Collagenous gastritis
* Congenital chloride diarrhea
* Congenital diaphragmatic hernia
* Congenital disorder of glycosylation type 1B
* Congenital disorders of glycosylation
* Congenital sucrase-isomaltase deficiency
* Cornelia de Lange syndrome
* Cowden syndrome
* Crigler Najjar syndrome, type 2
*   Crohn's disease
* Cronkhite-Canada disease
* Currarino triad
* Cutaneous photosensitivity and colitis, lethal
* Cutis laxa, autosomal recessive type 1
* Cystic fibrosis
* 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 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
* Gastroschisis
* Geroderma osteodysplastica
* Glucose-galactose malabsorption
* Glycogen storage disease type 1B
* Goldberg-Shprintzen megacolon syndrome
* Hemochromatosis type 2
* Hemochromatosis type 3
* Hepatic encephalopathy
* Hepatic venoocclusive disease with immunodeficiency
* Hepatoblastoma
* Hereditary fructose intolerance
* Hereditary pancreatitis
* Hirschsprung disease type d brachydactyly
* Hirschsprung's disease
* Hyperbilirubinemia transient familial neonatal
* Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
* Imerslund-Grasbeck syndrome
* Intestinal atresia multiple
* Intrahepatic cholestasis of pregnancy
* Jejunal atresia
* Johanson Blizzard syndrome
* Juvenile polyposis syndrome
* Kabuki syndrome
* Kernicterus
* Klatskin tumor
* Laparoschisis
* Limb-body wall complex
* Liver cancer
* Liver failure acute infantile
* Lucey-Driscoll syndrome
* Mallory-Weiss syndrome
* Meckel syndrome
* Megacystis microcolon intestinal hypoperistalsis syndrome
* Megaduodenum and/or megacystis
* Menetrier disease
* Mental retardation skeletal dysplasia abducens palsy
* Mesenteric artery ischemia
* Microgastria limb reduction defect
* Microphthalmia syndromic 3
* Microphthalmia syndromic 7
* Microphthalmia syndromic 9
* Mitochondrial neurogastrointestinal encephalopathy syndrome
* Multiple endocrine neoplasia type 1
* Multiple endocrine neoplasia type 2A
* Multiple endocrine neoplasia type 2B
* Necrotizing enterocolitis
* Neonatal adrenoleukodystrophy
* Neonatal hemochromatosis
* Nodular regenerative hyperplasia
* Occipital horn syndrome
* Omphalocele cleft palate syndrome lethal
* Omphalomesenteric cyst
* Pallister-Hall syndrome
* Pallister-Killian mosaic syndrome
* Pancreatic adenoma
* Pancreatic agenesis
* Pancreatic cancer
* Pearson syndrome
* Pediatric Crohn's disease
* Pediatric ulcerative colitis
* Pentalogy of Cantrell
* Peutz Jeghers syndrome
* Polycystic liver disease
* Polyglucosan body disease, adult
* Primary biliary cirrhosis
* Pseudomyxoma peritonei
* Refsum disease, infantile form
* Reynolds syndrome
* Ring chromosome 13
* Rotor syndrome
* Sacral defect with anterior meningocele
* SCARF syndrome
* Sclerosing mesenteritis
* Short rib-polydactyly syndrome type 3
* Shwachman-Diamond syndrome
* Simpson-Golabi-Behmel syndrome
* Sirenomelia
* Splenogonadal fusion limb defects micrognatia
* Stalker Chitayat syndrome
* STAR syndrome
* Superior mesenteric artery syndrome
* Thoraco abdominal enteric duplication
* Tricho-hepato-enteric syndrome
* Triple A syndrome
* Trisomy 13
* Trisomy 18
* Tufting enteropathy
* Tyrosinemia type 1
* Ulnar-mammary syndrome
* VACTERL association
* VIPoma
* Waardenburg syndrome type 4
* Watermelon stomach
* Wilson disease
* Wolf-Hirschhorn syndrome
* Wrinkly skin syndrome
* Zellweger syndrome
* Zollinger-Ellison syndrome