Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Homepage > Rare diseases > Classifications
Search for a classification
Return to classification browser
- Rare gastroenterologic disease ORPHA:97935
- Rare gastroesophageal disease ORPHA:101936
- High-grade dysplasia in patients with Barrett esophagus ORPHA:231080
- Idiopathic achalasia ORPHA:930
- Ménétrier disease ORPHA:2494
- Eosinophilic gastroenteritis ORPHA:2070
- Palmoplantar keratoderma-esophageal carcinoma syndrome ORPHA:2198
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome ORPHA:2575
- Plummer-Vinson syndrome ORPHA:54028
- Sandifer syndrome ORPHA:71272
- Rare gastroesophageal tumor ORPHA:180821
- Rare epithelial tumor of stomach ORPHA:63443
- Neuroendocrine tumor of stomach ORPHA:100075
- Rare carcinoma of stomach ORPHA:423771
- Gastric linitis plastica ORPHA:36273
- Epstein-Barr virus-associated gastric carcinoma ORPHA:313920
- Squamous cell carcinoma of the stomach ORPHA:418959
- Hereditary gastric cancer ORPHA:423776
- Hereditary diffuse gastric cancer ORPHA:26106
- Gastric adenocarcinoma and proximal polyposis of the stomach ORPHA:314022
- Undifferentiated carcinoma of stomach ORPHA:423786
- Familial gastric type 1 neuroendocrine tumor ORPHA:464756
- Carcinoma of esophagus ORPHA:70482
- Adenocarcinoma of the oesophagus and oesophagogastric junction ORPHA:99976
- Squamous cell carcinoma of the esophagus ORPHA:99977
- Carcinoma of esophagus, salivary gland type ORPHA:418945
- Undifferentiated carcinoma of esophagus ORPHA:418951
- Neuroendocrine neoplasm of esophagus ORPHA:506136
- Non-hypoproteinemic hypertrophic gastropathy ORPHA:329883
- Moyamoya disease with early-onset achalasia ORPHA:401945
- Idiopathic gastroparesis ORPHA:558411
- Gastrocutaneous syndrome ORPHA:2069
- Pediatric collagenous gastritis ORPHA:487809
- Rare pancreatic disease ORPHA:101937
- Cystic fibrosis ORPHA:586
- Hereditary chronic pancreatitis ORPHA:676
- Shwachman-Diamond syndrome ORPHA:811
- Tropical pancreatitis ORPHA:103918
- Autoimmune pancreatitis ORPHA:103919
- Rare tumor of pancreas ORPHA:180824
- Rare epithelial tumor of pancreas ORPHA:424033
- Pancreatoblastoma ORPHA:677
- Neuroendocrine neoplasm of pancreas ORPHA:506052
- Neuroendocrine tumor of pancreas ORPHA:97253
- Functioning neuroendocrine tumor of pancreas ORPHA:506060
- Zollinger-Ellison syndrome ORPHA:913
- GRFoma ORPHA:97261
- PPoma ORPHA:97278
- Insulinoma ORPHA:97279
- Glucagonoma ORPHA:97280
- VIPoma ORPHA:97282
- Somatostatinoma ORPHA:97283
- Cushing syndrome due to ectopic ACTH secretion ORPHA:99889
- Serotonin-producing neuroendocrine tumor of pancreas ORPHA:506090
- Non-functioning neuroendocrine tumor of pancreas ORPHA:506075
- Neuroendocrine carcinoma of pancreas ORPHA:506098
- Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas ORPHA:506112
- Rare carcinoma of pancreas ORPHA:217074
- Familial pancreatic carcinoma ORPHA:1333
- Squamous cell carcinoma of pancreas ORPHA:424039
- Acinar cell carcinoma of pancreas ORPHA:424046
- Mucinous cystadenocarcinoma of the pancreas ORPHA:424053
- Intraductal papillary mucinous carcinoma of pancreas ORPHA:424058
- Pancreatic solid pseudopapillary neoplasm ORPHA:424065
- Serous cystadenocarcinoma of pancreas ORPHA:424073
- Undifferentiated carcinoma with osteoclast-like giant cells of pancreas ORPHA:424080
- Adenoma of pancreas ORPHA:93292
- Intraductal tubulopapillary neoplasm of pancreas ORPHA:580572
- GCGR-related hyperglucagonemia ORPHA:438274
- Pancreatic insufficiency-anemia-hyperostosis syndrome ORPHA:199337
- Follicular cholangitis and pancreatitis ORPHA:300552
- Disorder of lipid absorption and transport ORPHA:309028
- Pancreatic triacylglycerol lipase deficiency ORPHA:309031
- Pancreatic colipase deficiency ORPHA:309108
- Combined pancreatic lipase-colipase deficiency ORPHA:309111
- Congenital pancreatic cyst ORPHA:313906
- Infantile multisystem neurologic-endocrine-pancreatic disease ORPHA:456312
- Rare intestinal disease ORPHA:117569
- Whipple disease ORPHA:3452
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome ORPHA:1116
- Malakoplakia ORPHA:556
- Intestinal lymphangiectasia ORPHA:36204
- Primary intestinal lymphangiectasia ORPHA:90362
- Secondary intestinal lymphangiectasia ORPHA:90363
- Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome ORPHA:566175
- Radiation proctitis ORPHA:70475
- Intractable diarrhea of infancy ORPHA:73014
- Microvillus inclusion disease ORPHA:2290
- Chronic diarrhea with villous atrophy ORPHA:1670
- Syndromic diarrhea ORPHA:84064
- Congenital tufting enteropathy ORPHA:92050
- Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622
- Congenital chronic diarrhea with protein-losing enteropathy ORPHA:329242
- Congenital sodium diarrhea ORPHA:103908
- Syndromic congenital sodium diarrhea ORPHA:563708
- Primary autoimmune enteropathy ORPHA:522037
- Syndromic autoimmune enteropathy ORPHA:522043
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Immunodeficiency due to CD25 deficiency ORPHA:169100
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Laron syndrome with immunodeficiency ORPHA:220465
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Severe immune-mediated enteropathy ORPHA:94075
- Immunodeficiency by defective expression of MHC class II ORPHA:572
- TCR-alpha-beta-positive T-cell deficiency ORPHA:397959
- Severe combined immunodeficiency due to LCK deficiency ORPHA:280142
- Primary autoimmune enteropathy ORPHA:522037
- Syndromic autoimmune enteropathy ORPHA:522043
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Immunodeficiency due to CD25 deficiency ORPHA:169100
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Laron syndrome with immunodeficiency ORPHA:220465
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Congenital intestinal transport defect ORPHA:104003
- Hereditary fructose intolerance ORPHA:469
- Glucose-galactose malabsorption ORPHA:35710
- Congenital chloride diarrhea ORPHA:53689
- Congenital sodium diarrhea ORPHA:103908
- Syndromic congenital sodium diarrhea ORPHA:563708
- Intestinal disease due to vitamin absorption anomaly ORPHA:104004
- Intestinal disease due to fat malabsorption ORPHA:104005
- Abetalipoproteinemia ORPHA:14
- Chylomicron retention disease ORPHA:71
- Acrodermatitis enteropathica ORPHA:37
- Idiopathic malabsorption due to bile acid synthesis defects ORPHA:84065
- Congenital intestinal disease due to an enzymatic defect ORPHA:104006
- Congenital sucrase-isomaltase deficiency ORPHA:35122
- Congenital lactase deficiency ORPHA:53690
- Chronic diarrhea due to glucoamylase deficiency ORPHA:103907
- Trehalase deficiency ORPHA:103909
- Congenital enteropathy due to enteropeptidase deficiency ORPHA:168601
- Congenital enteropathy involving intestinal mucosa development ORPHA:104007
- Microvillus inclusion disease ORPHA:2290
- Enteric anendocrinosis ORPHA:83620
- Congenital tufting enteropathy ORPHA:92050
- Congenital enterocyte heparan sulfate deficiency ORPHA:103910
- Short bowel syndrome ORPHA:104008
- Rare disease involving intestinal motility ORPHA:104009
- Hirschsprung disease ORPHA:388
- Waardenburg-Shah syndrome ORPHA:897
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Familial visceral myopathy ORPHA:2604
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Chronic intestinal pseudoobstruction syndrome ORPHA:2978
- Neuronal intestinal pseudoobstruction ORPHA:99811
- Myopathic intestinal pseudoobstruction ORPHA:104077
- Unclassified intestinal pseudoobstruction ORPHA:104078
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity ORPHA:314373
- Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency ORPHA:314376
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Hirschsprung disease-ganglioneuroblastoma syndrome ORPHA:2151
- Bardet-Biedl syndrome ORPHA:110
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Haddad syndrome ORPHA:99803
- Rare tumor of intestine ORPHA:104011
- Rare tumor of small intestine ORPHA:423793
- Monomorphic epitheliotropic intestinal T-cell lymphoma ORPHA:652658
- Enteropathy-associated T-cell lymphoma ORPHA:86880
- Mesenchymal tumor of small intestine ORPHA:423798
- Rare epithelial tumor of small intestine ORPHA:425368
- Epithelial tumor of the appendix ORPHA:423982
- Neuroendocrine neoplasm of appendix ORPHA:100079
- Mucinous adenocarcinoma of the appendix ORPHA:391723
- Rare epithelial tumor of colon ORPHA:423991
- Rare epithelial tumor of rectum ORPHA:423998
- Epithelial tumor of anal canal ORPHA:424010
- Rare inflammatory bowel disease ORPHA:104012
- Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome ORPHA:566175
- Chronic granulomatous disease ORPHA:379
- Cutaneous photosensitivity-lethal colitis syndrome ORPHA:2881
- Undetermined colitis ORPHA:103920
- Cap polyposis ORPHA:160148
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- Immune dysregulation with inflammatory bowel disease ORPHA:529974
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome ORPHA:529977
- Infantile inflammatory bowel disease with neurological involvement ORPHA:565788
- Inflammatory bowel disease-recurrent sinopulmonary infections syndrome ORPHA:529980
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ORPHA:238569
- X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency ORPHA:676125
- IL21-related infantile inflammatory bowel disease ORPHA:477661
- Necrotizing enterocolitis ORPHA:391673
- X-linked lymphoproliferative disease due to XIAP deficiency ORPHA:538934
- TRIM22-related inflammatory bowel disease ORPHA:597201
- ALPI-related inflammatory bowel disease ORPHA:597887
- Metabolic disease with intestinal involvement ORPHA:104013
- Pearson syndrome ORPHA:699
- Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298
- Congenital disorder of glycosylation with intestinal involvement ORPHA:371188
- Solitary rectal ulcer syndrome ORPHA:209964
- Chronic intestinal failure ORPHA:294422
- PrP systemic amyloidosis ORPHA:397606
- Refractory celiac disease ORPHA:398063
- Chronic atrial and intestinal dysrhythmia syndrome ORPHA:435988
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome ORPHA:436166
- Primary desmosis coli ORPHA:565641
- Isolated mesenteric vein thrombosis ORPHA:583861
- Superior mesenteric artery syndrome ORPHA:622099
- Spontaneous intestinal perforation ORPHA:645793
- Pouchitis ORPHA:217067
- Anal fistula ORPHA:228113
- Ileal pouch anal anastomosis related faecal incontinence ORPHA:238621
- Cryptogenic multifocal ulcerous stenosing enteritis ORPHA:468635
- Chronic enteropathy associated with SLCO2A1 gene ORPHA:468641
- Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder ORPHA:477787
- Satoyoshi syndrome ORPHA:3130
- NK-cell enteropathy ORPHA:263665
- Rare tumor of salivary glands ORPHA:276142
- Carcinoma of the ampulla of Vater ORPHA:300557
- Primary eosinophilic gastrointestinal disease ORPHA:402029
- Inherited digestive cancer-predisposing syndrome ORPHA:425003
- Familial medullary thyroid carcinoma ORPHA:99361
- Multiple endocrine neoplasia type 1 ORPHA:652
- Multiple endocrine neoplasia type 2 ORPHA:653
- Intestinal polyposis syndrome ORPHA:104010
- Familial adenomatous polyposis ORPHA:733
- Gardner syndrome ORPHA:79665
- Turcot syndrome with polyposis ORPHA:99818
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Peutz-Jeghers syndrome ORPHA:2869
- Cowden syndrome ORPHA:201
- Juvenile polyposis syndrome ORPHA:2929
- Juvenile polyposis of infancy ORPHA:79076
- Generalized juvenile polyposis/juvenile polyposis coli ORPHA:329971
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Cronkhite-Canada syndrome ORPHA:2930
- Hereditary mixed polyposis syndrome ORPHA:157794
- Serrated polyposis syndrome ORPHA:157798
- Attenuated familial adenomatous polyposis ORPHA:220460
- MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798
- APC-related attenuated familial adenomatous polyposis ORPHA:247806
- MSH3-related attenuated familial adenomatous polyposis ORPHA:480536
- Polymerase proofreading-related adenomatous polyposis ORPHA:447877
- NTHL1-related attenuated familial adenomatous polyposis ORPHA:454840
- AXIN2-related attenuated familial adenomatous polyposis ORPHA:401911
- Hereditary nonpolyposis colon cancer ORPHA:443909
- Hereditary neuroendocrine tumor of small intestine ORPHA:456333
- Isolated splenic vein thrombosis ORPHA:583856
- Primary tuberculosis of the digestive system ORPHA:645859