Digestive Diseases | Page 1

2 Diseases

22q11.2 deletion syndrome

A Diseases

Aagenaes syndrome Abetalipoproteinemia Accessory pancreas Achalasia microcephaly syndrome Acrodermatitis enteropathica Acute fatty liver of pregnancy Adult polyglucosan body disease Agenesis of the dorsal pancreas ALG13-CDG ALG2-CDG (CDG-Ii) ALG6-CDG (CDG-Ic) ALG8-CDG (CDG-Ih) ALG9-CDG (CDG-IL) 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

B Diseases

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 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

C Diseases

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 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 Cronkhite-Canada disease Currarino triad Cutaneous photosensitivity and colitis, lethal Cutis laxa, autosomal dominant Cutis laxa, autosomal recessive type 1 Cystic fibrosis

D Diseases

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

E Diseases

Emanuel syndrome Eosinophilic enteropathy Esophageal atresia Exstrophy of the bladder

F Diseases

Familial caudal dysgenesis Familial pancreatic cancer Familial visceral myopathy with external ophthalmoplegia