List of rare digestive diseases

• 22q11.2 deletion syndrome
• Aagenaes syndrome
• Abetalipoproteinemia
• 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
• ALG13-CDG
• ALG2-CDG (CDG-Ii)
• ALG6-CDG (CDG-Ic)
• ALG8-CDG (CDG-Ih)
• ALG9-CDG (CDG-IL)
• 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
• B4GALT1-CDG (CDG-IId)
• 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 sequence
• 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
• COG4-CDG (CDG-IIj)
• 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
• DDOST-CDG (CDG-Ir)
• Deafness, dystonia, and cerebral hypomyelination
• Desmoplastic small round cell tumor
• Disseminated peritoneal leiomyomatosis
• Donnai-Barrow syndrome
• DPM2-CDG
• 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
• Gastroschisis
• 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
• Hepatoblastoma
• 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
• Kernicterus
• Klatskin tumor
• Limb-body wall complex
• LRBA deficiency
• Lucey-Driscoll syndrome
• Lynch syndrome - Not a rare disease
• Malakoplakia
• 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
• MOGS-CDG (CDG-IIb)
• MPI-CDG (CDG-Ib)
• 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
• Pearson syndrome
• Pediatric Crohn's disease
• Pediatric ulcerative colitis
• Pentalogy of Cantrell
• Peutz-Jeghers syndrome
• PGM1-CDG
• Plummer Vinson syndrome
• PMM2-CDG (CDG-Ia)
• 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
• RFT1-CDG (CDG-In)
• Ring chromosome 13
• Rotor syndrome
• Sandifer syndrome
• Satoyoshi syndrome
• SCARF syndrome
• Sclerosing mesenteritis
• Short rib-polydactyly syndrome type 3
• Shprintzen omphalocele syndrome
• Shwachman-Diamond syndrome
• Simpson-Golabi-Behmel syndrome
• Sirenomelia
• 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
• TMEM165-CDG (CDG-IIk)
• 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
• VIPoma
• Waardenburg syndrome type 4
• Watermelon stomach
• Whipple disease
• Wilson disease
• Wolf-Hirschhorn syndrome
• Wolman disease
• Wrinkly skin syndrome
• Zellweger syndrome
• Zollinger-Ellison syndrome

NIH genetic and rare disease info

• NIH info on List of rare digestive diseases

List of rare digestive diseases is a rare disease.