22q11.2 deletion syndrome
Aagenaes syndrome
Abetalipoproteinemia
Accessory pancreas
Achalasia microcephaly syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adult polyglucosan body disease
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
Cholesteryl ester storage disease
Chronic granulomatous disease
Chronic hiccups
Chylomicron retention disease
Chylous ascites
Citrullinemia type II
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 gastroenteritis
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
Hirschsprung disease type d brachydactyly
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
Progressive familial intrahepatic cholestasis-4
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
