commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Rare diseases and classifications/Classifications of rare diseases/en_product3_152.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_152.xml index a0ee417..aa42d5c 100755 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_152.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_152.xml @@ -1,3606 +1,3726 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 156557 - Orphanet classification of rare gastroenterological diseases - - - - 97935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97935 - Rare gastroenterologic disease - - Category - - - - - - 101936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101936 - Rare gastroesophageal disease - - Category - - - - - - 231080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231080 - High-grade dysplasia in patients with Barrett esophagus - - Particular clinical situation in a disease or syndrome - - - - - - - - 930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 - Idiopathic achalasia - - Disease - - - - - - - - 2494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2494 - Ménétrier disease - - Disease - - - - - - - - 2070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070 - Eosinophilic gastroenteritis - - Disease - - - - - - - - 2198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - Disease - - - - - - - - 2575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575 - Cystic fibrosis-gastritis-megaloblastic anemia syndrome - - Disease - - - - - - - - 54028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028 - Plummer-Vinson syndrome - - Disease - - - - - - - - 71272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272 - Sandifer syndrome - - Disease - - - - - - - - 180821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180821 - Rare gastroesophageal tumor - - Category - - - - - - 63443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63443 - Rare epithelial tumor of stomach - - Category - - - - - - 100075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075 - Neuroendocrine tumor of stomach - - Disease - - - - - - - - 423771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423771 - Rare carcinoma of stomach - - Category - - - - - - 36273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273 - Gastric linitis plastica - - Disease - - - - - - - - 313920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920 - Epstein-Barr virus-associated gastric carcinoma - - Disease - - - - - - - - 418959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959 - Squamous cell carcinoma of the stomach - - Disease - - - - - - - - 423776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423776 - Hereditary gastric cancer - - Category - - - - - - 26106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 - Hereditary diffuse gastric cancer - - Disease - - - - - - - - 314022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022 - Gastric adenocarcinoma and proximal polyposis of the stomach - - Disease - - - - - - - - - - 423786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786 - Undifferentiated carcinoma of stomach - - Disease - - - - - - - - - - 464756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756 - Familial gastric type 1 neuroendocrine tumor - - Disease - - - - - - - - - - 70482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70482 - Carcinoma of esophagus - - Clinical group - - - - - - 99976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976 - Adenocarcinoma of the oesophagus and oesophagogastric junction - - Disease - - - - - - - - 99977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977 - Squamous cell carcinoma of the esophagus - - Disease - - - - - - - - 418945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945 - Carcinoma of esophagus, salivary gland type - - Disease - - - - - - - - 418951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951 - Undifferentiated carcinoma of esophagus - - Disease - - - - - - - - - - 506136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136 - Neuroendocrine neoplasm of esophagus - - Disease - - - - - - - - - - 329883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883 - Non-hypoproteinemic hypertrophic gastropathy - - Disease - - - - - - - - 401945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 - Moyamoya disease with early-onset achalasia - - Disease - - - - - - - - 558411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558411 - Idiopathic gastroparesis - - Disease - - - - - - - - 2069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 - Gastrocutaneous syndrome - - Disease - - - - - - - - 487809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809 - Pediatric collagenous gastritis - - Disease - - - - - - - - - - 101937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101937 - Rare pancreatic disease - - Category - - - - - - 586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 - Cystic fibrosis - - Disease - - - - - - - - 676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 - Autosomal dominant hereditary chronic pancreatitis - - Disease - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 103918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918 - Tropical pancreatitis - - Disease - - - - - - - - 103919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103919 - Autoimmune pancreatitis - - Clinical group - - - - - - 280302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302 - Autoimmune pancreatitis type 1 - - Clinical subtype - - - - - - - - 280315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280315 - Autoimmune pancreatitis type 2 - - Disease - - - - - - - - - - 180824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180824 - Rare tumor of pancreas - - Category - - - - - - 424033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424033 - Rare epithelial tumor of pancreas - - Category - - - - - - 677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677 - Pancreatoblastoma - - Disease - - - - - - - - 506052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506052 - Neuroendocrine neoplasm of pancreas - - Category - - - - - - 97253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253 - Neuroendocrine tumor of pancreas - - Category - - - - - - 506060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060 - Functioning neuroendocrine tumor of pancreas - - Category - - - - - - 913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 - Zollinger-Ellison syndrome - - Disease - - - - - - - - 97261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261 - GRFoma - - Disease - - - - - - - - 97278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278 - PPoma - - Disease - - - - - - - - 97279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279 - Insulinoma - - Disease - - - - - - - - 97280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280 - Glucagonoma - - Disease - - - - - - - - 97282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282 - VIPoma - - Disease - - - - - - - - 97283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 - Somatostatinoma - - Disease - - - - - - - - 99889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889 - Cushing syndrome due to ectopic ACTH secretion - - Disease - - - - - - - - 506090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090 - Serotonin-producing neuroendocrine tumor of pancreas - - Disease - - - - - - - - - - 506075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075 - Non-functioning neuroendocrine tumor of pancreas - - Disease - - - - - - - - - - 506098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098 - Neuroendocrine carcinoma of pancreas - - Disease - - - - - - - - 506112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112 - Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas - - Disease - - - - - - - - - - 217074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217074 - Rare carcinoma of pancreas - - Category - - - - - - 1333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 - Familial pancreatic carcinoma - - Disease - - - - - - - - 424039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039 - Squamous cell carcinoma of pancreas - - Disease - - - - - - - - 424046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046 - Acinar cell carcinoma of pancreas - - Disease - - - - - - - - 424053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053 - Mucinous cystadenocarcinoma of the pancreas - - Disease - - - - - - - - 424058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058 - Intraductal papillary mucinous carcinoma of pancreas - - Disease - - - - - - - - 424065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065 - Pancreatic solid pseudopapillary neoplasm - - Disease - - - - - - - - 424073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073 - Serous cystadenocarcinoma of pancreas - - Disease - - - - - - - - 424080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080 - Undifferentiated carcinoma with osteoclast-like giant cells of pancreas - - Disease - - - - - - - - - - 93292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292 - Adenoma of pancreas - - Disease - - - - - - - - 580572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580572 - Intraductal tubulopapillary neoplasm of pancreas - - Disease - - - - - - - - - - 438274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274 - GCGR-related hyperglucagonemia - - Disease - - - - - - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - Disease - - - - - - - - 300552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552 - Follicular cholangitis and pancreatitis - - Disease - - - - - - - - 309028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 - Disorder of lipid absorption and transport - - Category - - - - - - 309031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 - Pancreatic triacylglycerol lipase deficiency - - Disease - - - - - - - - 309108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 - Pancreatic colipase deficiency - - Disease - - - - - - - - 309111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 - Combined pancreatic lipase-colipase deficiency - - Disease - - - - - - - - - - 313906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906 - Congenital pancreatic cyst - - Morphological anomaly - - - - - - - - 697132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697132 - Lymphoepithelial cyst of the pancreas - - Disease - - - - - - - - 700133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700133 - Idiopathic chronic pancreatitis - - Disease - - - - - - 700136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700136 - Early-onset idiopathic chronic pancreatitis - - Clinical subtype - - - - - - - - 700139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700139 - Late-onset idiopathic chronic pancreatitis - - Clinical subtype - - - - - - - - - - 700124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700124 - Autosomal recessive hereditary chronic pancreatitis - - Disease - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - 695131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695131 - Acinar cystic transformation of the pancreas - - Disease - - - - - - - - - - 117569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117569 - Rare intestinal disease - - Category - - - - - - 3452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 - Whipple disease - - Disease - - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - - - - - - 556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556 - Malakoplakia - - Disease - - - - - - - - 36204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204 - Intestinal lymphangiectasia - - Clinical group - - - - - - 90362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362 - Primary intestinal lymphangiectasia - - Disease - - - - - - - - 90363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363 - Secondary intestinal lymphangiectasia - - Disease - - - - - - - - 566175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - Disease - - - - - - - - - - 70475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70475 - Radiation proctitis - - Disease - - - - - - - - 73014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014 - Intractable diarrhea of infancy - - Category - - - - - - 2290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 - Microvillus inclusion disease - - Disease - - - - - - - - 1670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 - Chronic diarrhea with villous atrophy - - Disease - - - - - - - - 84064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 - Syndromic diarrhea - - Disease - - - - - - - - 92050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 - Congenital tufting enteropathy - - Disease - - - - - - - - 137622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - Malformation syndrome - - - - - - - - 329242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 - Congenital chronic diarrhea with protein-losing enteropathy - - Disease - - - - - - - - 103908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 - Congenital sodium diarrhea - - Disease - - - - - - - - 563708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 - Syndromic congenital sodium diarrhea - - Disease - - - - - - - - 522037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037 - Primary autoimmune enteropathy - - Disease - - - - - - - - 522043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 - Syndromic autoimmune enteropathy - - Clinical group - - - - - - 37042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - Disease - - - - - - - - 436159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - Disease - - - - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - Disease - - - - - - - - 169100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 - Immunodeficiency due to CD25 deficiency - - Disease - - - - - - - - 438159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 - STAT3-related early-onset multisystem autoimmune disease - - Disease - - - - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - Disease - - - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 445018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 - Combined immunodeficiency due to LRBA deficiency - - Disease - - - - - - - - - - - - 94075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94075 - Severe immune-mediated enteropathy - - Category - - - - - - 572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 - Immunodeficiency by defective expression of MHC class II - - Disease - - - - - - - - 397959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 - TCR-alpha-beta-positive T-cell deficiency - - Disease - - - - - - - - 280142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 - Severe combined immunodeficiency due to LCK deficiency - - Disease - - - - - - - - 522037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037 - Primary autoimmune enteropathy - - Disease - - - - - - - - 522043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 - Syndromic autoimmune enteropathy - - Clinical group - - - - - - 37042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - Disease - - - - - - - - 436159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - Disease - - - - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - Disease - - - - - - - - 169100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 - Immunodeficiency due to CD25 deficiency - - Disease - - - - - - - - 438159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 - STAT3-related early-onset multisystem autoimmune disease - - Disease - - - - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - Disease - - - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 445018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 - Combined immunodeficiency due to LRBA deficiency - - Disease - - - - - - - - - - - - 104003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 - Congenital intestinal transport defect - - Category - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 35710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 - Glucose-galactose malabsorption - - Disease - - - - - - - - 53689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 - Congenital chloride diarrhea - - Disease - - - - - - - - 103908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 - Congenital sodium diarrhea - - Disease - - - - - - - - 563708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 - Syndromic congenital sodium diarrhea - - Disease - - - - - - - - - - 104004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004 - Intestinal disease due to vitamin absorption anomaly - - Category - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - - - - - - - - 104005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104005 - Intestinal disease due to fat malabsorption - - Category - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - Disease - - - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - - - - - - 84065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065 - Idiopathic malabsorption due to bile acid synthesis defects - - Disease - - - - - - - - - - 104006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006 - Congenital intestinal disease due to an enzymatic defect - - Category - - - - - - 35122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 - Congenital sucrase-isomaltase deficiency - - Disease - - - - - - - - 53690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 - Congenital lactase deficiency - - Disease - - - - - - - - 103907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 - Chronic diarrhea due to glucoamylase deficiency - - Disease - - - - - - - - 103909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 - Trehalase deficiency - - Disease - - - - - - - - 168601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 - Congenital enteropathy due to enteropeptidase deficiency - - Disease - - - - - - - - - - 104007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 - Congenital enteropathy involving intestinal mucosa development - - Category - - - - - - 2290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 - Microvillus inclusion disease - - Disease - - - - - - - - 83620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 - Enteric anendocrinosis - - Disease - - - - - - - - 92050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 - Congenital tufting enteropathy - - Disease - - - - - - - - 103910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 - Congenital enterocyte heparan sulfate deficiency - - Disease - - - - - - - - - - 104008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008 - Short bowel syndrome - - Clinical group - - - - - - 95427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427 - Secondary short bowel syndrome - - Disease - - - - - - - - 365563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365563 - Primary short bowel syndrome - - Clinical group - - - - - - 2301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 - Congenital short bowel syndrome - - Morphological anomaly - - - - - - - - 1201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 - Small bowel atresia - - Morphological anomaly - - - - - - - - 2368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 - Gastroschisis - - Morphological anomaly - - - - - - - - - - - - 104009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 - Rare disease involving intestinal motility - - Category - - - - - - 388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 - Hirschsprung disease - - Disease - - - - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - Disease - - - - - - - - 1876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 - Oculogastrointestinal muscular dystrophy - - Disease - - - - - - - - 2604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 - Familial visceral myopathy - - Disease - - - - - - - - 2241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - Malformation syndrome - - - - - - - - 2978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 - Chronic intestinal pseudoobstruction syndrome - - Clinical syndrome - - - - - - 99811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 - Neuronal intestinal pseudoobstruction - - Etiological subtype - - - - - - - - 104077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 - Myopathic intestinal pseudoobstruction - - Etiological subtype - - - - - - - - 104078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 - Unclassified intestinal pseudoobstruction - - Etiological subtype - - - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 314373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity - - Disease - - - - - - - - 314376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - - Disease - - - - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - Disease - - - - - - - - 2150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 - Hirschsprung disease-type D brachydactyly syndrome - - Malformation syndrome - - - - - - - - 2153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 - Hirschsprung disease-deafness-polydactyly syndrome - - Malformation syndrome - - - - - - - - 2151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 - Hirschsprung disease-ganglioneuroblastoma syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - Malformation syndrome - - - - - - - - - - 104011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011 - Rare tumor of intestine - - Category - - - - - - 423793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793 - Rare tumor of small intestine - - Category - - - - - - 652658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658 - Monomorphic epitheliotropic intestinal T-cell lymphoma - - Disease - - - - - - - - 86880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880 - Enteropathy-associated T-cell lymphoma - - Disease - - - - - - - - 423798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798 - Mesenchymal tumor of small intestine - - Category - - - - - - 44890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 - Gastrointestinal stromal tumor - - Disease - - - - - - - - 104076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076 - Leiomyosarcoma of small intestine - - Disease - - - - - - - - - - 425368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368 - Rare epithelial tumor of small intestine - - Category - - - - - - 423957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957 - Rare carcinoma of small intestine - - Category - - - - - - 104075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075 - Adenocarcinoma of the small intestine - - Disease - - - - - - - - 423968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968 - Squamous cell carcinoma of the small intestine - - Disease - - - - - - - - - - 423975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975 - Neuroendocrine tumor of the small intestine - - Category - - - - - - 100076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076 - Duodenal neuroendocrine tumor - - Category - - - - - - 97283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 - Somatostatinoma - - Disease - - - - - - - - 913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 - Zollinger-Ellison syndrome - - Disease - - - - - - - - - - 100077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077 - Jejunal neuroendocrine tumor - - Category - - - - - - 97283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 - Somatostatinoma - - Disease - - - - - - - - - - 100078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078 - Ileal neuroendocrine tumor - - Disease - - - - - - - - - - - - - - 423982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982 - Epithelial tumor of the appendix - - Category - - - - - - 100079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079 - Neuroendocrine neoplasm of appendix - - Disease - - - - - - 329977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977 - Classic neuroendocrine tumor of appendix - - Clinical subtype - - - - - - - - 329984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984 - Goblet cell carcinoma - - Clinical subtype - - - - - - - - - - 391723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723 - Mucinous adenocarcinoma of the appendix - - Disease - - - - - - - - - - 423991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991 - Rare epithelial tumor of colon - - Category - - - - - - 100080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080 - Neuroendocrine tumor of the colon - - Disease - - - - - - - - 423994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994 - Squamous cell carcinoma of the colon - - Disease - - - - - - - - - - 423998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423998 - Rare epithelial tumor of rectum - - Category - - - - - - 100081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081 - Neuroendocrine tumor of the rectum - - Disease - - - - - - - - 424002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002 - Squamous cell carcinoma of the rectum - - Disease - - - - - - - - - - 424010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010 - Epithelial tumor of anal canal - - Category - - - - - - 100082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082 - Neuroendocrine tumor of anal canal - - Disease - - - - - - - - 424013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013 - Carcinoma of the anal canal - - Clinical group - - - - - - 424016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016 - Adenocarcinoma of the anal canal - - Disease - - - - - - - - 424019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019 - Squamous cell carcinoma of the anal canal - - Disease - - - - - - - - - - - - - - 104012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104012 - Rare inflammatory bowel disease - - Category - - - - - - 566175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - Disease - - - - - - - - 379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 - Chronic granulomatous disease - - Disease - - - - - - - - 2881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881 - Cutaneous photosensitivity-lethal colitis syndrome - - Disease - - - - - - - - 103920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103920 - Undetermined colitis - - Disease - - - - - - - - 160148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148 - Cap polyposis - - Disease - - - - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - Disease - - - - - - - - 529974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529974 - Immune dysregulation with inflammatory bowel disease - - Clinical group - - - - - - 529977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - - Disease - - - - - - - - 565788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 - Infantile inflammatory bowel disease with neurological involvement - - Disease - - - - - - - - 529980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980 - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - - Disease - - - - - - - - 238569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - - Disease - - - - - - - - 676125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 - X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency - - Disease - - - - - - - - 695807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 - Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - - Disease - - - - - - - - - - 477661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 - IL21-related infantile inflammatory bowel disease - - Disease - - - - - - - - 391673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673 - Necrotizing enterocolitis - - Disease - - - - - - - - 538934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 - X-linked lymphoproliferative disease due to XIAP deficiency - - Disease - - - - - - - - 597201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 - TRIM22-related inflammatory bowel disease - - Disease - - - - - - - - 597887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 - ALPI-related inflammatory bowel disease - - Disease - - - - - - - - - - 104013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013 - Metabolic disease with intestinal involvement - - Category - - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - Disease - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 371188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371188 - Congenital disorder of glycosylation with intestinal involvement - - Category - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - Disease - - - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - - - - - 209964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209964 - Solitary rectal ulcer syndrome - - Disease - - - - - - - - 294422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422 - Chronic intestinal failure - - Clinical syndrome - - - - - - - - 397606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 - PrP systemic amyloidosis - - Disease - - - - - - - - 398063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063 - Refractory celiac disease - - Disease - - - - - - - - 435988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 - Chronic atrial and intestinal dysrhythmia syndrome - - Disease - - - - - - - - 436166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 - Periodic fever-infantile enterocolitis-autoinflammatory syndrome - - Disease - - - - - - - - 693832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693832 - Gastrointestinal tract arteriovenous malformation - - Malformation syndrome - - - - - - - - 565641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565641 - Primary desmosis coli - - Disease - - - - - - - - 583861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583861 - Isolated mesenteric vein thrombosis - - Disease - - - - - - - - 622099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622099 - Superior mesenteric artery syndrome - - Disease - - - - - - - - 645793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645793 - Spontaneous intestinal perforation - - Disease - - - - - - - - 217067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217067 - Pouchitis - - Particular clinical situation in a disease or syndrome - - - - - - - - 228113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228113 - Anal fistula - - Particular clinical situation in a disease or syndrome - - - - - - - - 238621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238621 - Ileal pouch anal anastomosis related faecal incontinence - - Particular clinical situation in a disease or syndrome - - - - - - - - 468635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 - Cryptogenic multifocal ulcerous stenosing enteritis - - Disease - - - - - - - - 468641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 - Chronic enteropathy associated with SLCO2A1 gene - - Disease - - - - - - - - 477787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - Disease - - - - - - - - 3130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130 - Satoyoshi syndrome - - Disease - - - - - - - - - - 263665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263665 - NK-cell enteropathy - - Disease - - - - - - - - 276142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276142 - Rare tumor of salivary glands - - Category - - - - - - 276145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145 - Malignant epithelial tumor of salivary glands - - Disease - - - - - - - - 276148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148 - Benign epithelial tumor of salivary glands - - Disease - - - - - - - - - - 300557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557 - Carcinoma of the ampulla of Vater - - Disease - - - - - - - - 402029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402029 - Primary eosinophilic gastrointestinal disease - - Clinical group - - - - - - 2070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070 - Eosinophilic gastroenteritis - - Disease - - - - - - - - 402035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035 - Eosinophilic colitis - - Disease - - - - - - - - 411696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411696 - Proton-pump inhibitor-responsive esophageal eosinophilia - - Disease - - - - - - - - - - 425003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425003 - Inherited digestive cancer-predisposing syndrome - - Category - - - - - - 99361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361 - Isolated familial medullary thyroid carcinoma - - Disease - - - - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - Disease - - - - - - - - 653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 - Multiple endocrine neoplasia type 2 - - Disease - - - - - - 247698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 - Multiple endocrine neoplasia type 2A - - Clinical subtype - - - - - - - - 247709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 - Multiple endocrine neoplasia type 2B - - Clinical subtype - - - - - - - - - - 104010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 - Intestinal polyposis syndrome - - Clinical group - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - Disease - - - - - - - - 247798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 - MUTYH-related polyposis - - Disease - - - - - - - - 447877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 - Polymerase proofreading-related polyposis - - Disease - - - - - - - - 454840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 - NTHL1-related polyposis - - Disease - - - - - - - - 480536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 - MSH3-related polyposis - - Disease - - - - - - - - 733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 - Familial adenomatous polyposis - - Disease - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 2929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 - Juvenile polyposis syndrome - - Disease - - - - - - 79076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 - Juvenile polyposis of infancy - - Clinical subtype - - - - - - - - 329971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 - Generalized juvenile polyposis/juvenile polyposis coli - - Clinical subtype - - - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 2930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 - Cronkhite-Canada syndrome - - Disease - - - - - - - - 157794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 - Hereditary mixed polyposis syndrome - - Disease - - - - - - - - 157798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 - Serrated polyposis syndrome - - Disease - - - - - - - - 220460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 - Attenuated familial adenomatous polyposis - - Disease - - - - - - - - 401911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 - AXIN2-related polyposis - - Disease - - - - - - - - - - 443909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909 - Hereditary nonpolyposis colon cancer - - Clinical group - - - - - - 144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 - Lynch syndrome - - Disease - - - - - - - - 440437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 - Familial colorectal cancer Type X - - Disease - - - - - - - - - - 456333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 - Hereditary neuroendocrine tumor of small intestine - - Disease - - - - - - - - - - 583856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583856 - Isolated splenic vein thrombosis - - Disease - - - - - - - - 645859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645859 - Primary tuberculosis of the digestive system - - Disease - - - - - - - - 696175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696175 - Encapsulating peritoneal sclerosis - - Disease - - - - - - - - - - - + + + + + Creative Commons Attribution 4.0 International + CC-BY-4.0 + https://creativecommons.org/licenses/by/4.0/legalcode + + + + + 156557 + Orphanet classification of rare gastroenterological diseases + + + + 97935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97935 + Rare gastroenterologic disease + + Category + + + + + + 101936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101936 + Rare gastroesophageal disease + + Category + + + + + + 231080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231080 + High-grade dysplasia in patients with Barrett esophagus + + Particular clinical situation in a disease or syndrome + + + + + + + + 930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=930 + Idiopathic achalasia + + Disease + + + + + + + + 2494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2494 + Ménétrier disease + + Disease + + + + + + + + 2070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070 + Eosinophilic gastroenteritis + + Disease + + + + + + + + 2198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 + Palmoplantar keratoderma-esophageal carcinoma syndrome + + Disease + + + + + + + + 2575 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575 + Cystic fibrosis-gastritis-megaloblastic anemia syndrome + + Disease + + + + + + + + 54028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54028 + Plummer-Vinson syndrome + + Disease + + + + + + + + 71272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71272 + Sandifer syndrome + + Disease + + + + + + + + 180821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180821 + Rare gastroesophageal tumor + + Category + + + + + + 63443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63443 + Rare epithelial tumor of stomach + + Category + + + + + + 100075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075 + Neuroendocrine tumor of stomach + + Disease + + + + + + + + 423771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423771 + Rare carcinoma of stomach + + Category + + + + + + 36273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36273 + Gastric linitis plastica + + Disease + + + + + + + + 313920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313920 + Epstein-Barr virus-associated gastric carcinoma + + Disease + + + + + + + + 418959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418959 + Squamous cell carcinoma of the stomach + + Disease + + + + + + + + 423776 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423776 + Hereditary gastric cancer + + Category + + + + + + 26106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 + Hereditary diffuse gastric cancer + + Disease + + + + + + + + 314022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314022 + Gastric adenocarcinoma and proximal polyposis of the stomach + + Disease + + + + + + + + + + 423786 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423786 + Undifferentiated carcinoma of stomach + + Disease + + + + + + + + + + 464756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464756 + Familial gastric type 1 neuroendocrine tumor + + Disease + + + + + + + + + + 70482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70482 + Carcinoma of esophagus + + Clinical group + + + + + + 99976 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99976 + Adenocarcinoma of the oesophagus and oesophagogastric junction + + Disease + + + + + + + + 99977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99977 + Squamous cell carcinoma of the esophagus + + Disease + + + + + + + + 418945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418945 + Carcinoma of esophagus, salivary gland type + + Disease + + + + + + + + 418951 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418951 + Undifferentiated carcinoma of esophagus + + Disease + + + + + + + + + + 506136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136 + Neuroendocrine neoplasm of esophagus + + Disease + + + + + + + + + + 329883 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329883 + Non-hypoproteinemic hypertrophic gastropathy + + Disease + + + + + + + + 401945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 + Moyamoya disease with early-onset achalasia + + Disease + + + + + + + + 558411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558411 + Idiopathic gastroparesis + + Disease + + + + + + + + 2069 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 + Gastrocutaneous syndrome + + Disease + + + + + + + + 487809 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487809 + Pediatric collagenous gastritis + + Disease + + + + + + + + + + 101937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101937 + Rare pancreatic disease + + Category + + + + + + 586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 + Cystic fibrosis + + Disease + + + + + + + + 676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 + Autosomal dominant hereditary chronic pancreatitis + + Disease + + + + + + + + 811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 + Shwachman-Diamond syndrome + + Disease + + + + + + + + 103918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103918 + Tropical pancreatitis + + Disease + + + + + + + + 103919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103919 + Autoimmune pancreatitis + + Clinical group + + + + + + 280302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280302 + Autoimmune pancreatitis type 1 + + Clinical subtype + + + + + + + + 280315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280315 + Autoimmune pancreatitis type 2 + + Disease + + + + + + + + + + 180824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180824 + Rare tumor of pancreas + + Category + + + + + + 424033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424033 + Rare epithelial tumor of pancreas + + Category + + + + + + 677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=677 + Pancreatoblastoma + + Disease + + + + + + + + 506052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506052 + Neuroendocrine neoplasm of pancreas + + Category + + + + + + 97253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253 + Neuroendocrine tumor of pancreas + + Category + + + + + + 506060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060 + Functioning neuroendocrine tumor of pancreas + + Category + + + + + + 913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 + Zollinger-Ellison syndrome + + Disease + + + + + + + + 97261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261 + GRFoma + + Disease + + + + + + + + 97278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278 + PPoma + + Disease + + + + + + + + 97279 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279 + Insulinoma + + Disease + + + + + + + + 97280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280 + Glucagonoma + + Disease + + + + + + + + 97282 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282 + VIPoma + + Disease + + + + + + + + 97283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 + Somatostatinoma + + Disease + + + + + + + + 99889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889 + Cushing syndrome due to ectopic ACTH secretion + + Disease + + + + + + + + 506090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090 + Serotonin-producing neuroendocrine tumor of pancreas + + Disease + + + + + + + + + + 506075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075 + Non-functioning neuroendocrine tumor of pancreas + + Disease + + + + + + + + + + 506098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098 + Neuroendocrine carcinoma of pancreas + + Disease + + + + + + + + 506112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112 + Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas + + Disease + + + + + + + + + + 217074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217074 + Rare carcinoma of pancreas + + Category + + + + + + 1333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 + Familial pancreatic carcinoma + + Disease + + + + + + + + 424039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424039 + Squamous cell carcinoma of pancreas + + Disease + + + + + + + + 424046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424046 + Acinar cell carcinoma of pancreas + + Disease + + + + + + + + 424053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424053 + Mucinous cystadenocarcinoma of the pancreas + + Disease + + + + + + + + 424058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424058 + Intraductal papillary mucinous carcinoma of pancreas + + Disease + + + + + + + + 424065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424065 + Pancreatic solid pseudopapillary neoplasm + + Disease + + + + + + + + 424073 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424073 + Serous cystadenocarcinoma of pancreas + + Disease + + + + + + + + 424080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424080 + Undifferentiated carcinoma with osteoclast-like giant cells of pancreas + + Disease + + + + + + + + + + 93292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292 + Adenoma of pancreas + + Disease + + + + + + + + 580572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580572 + Intraductal tubulopapillary neoplasm of pancreas + + Disease + + + + + + + + + + 438274 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438274 + GCGR-related hyperglucagonemia + + Disease + + + + + + + + + + 199337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 + Pancreatic insufficiency-anemia-hyperostosis syndrome + + Disease + + + + + + + + 300552 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552 + Follicular cholangitis and pancreatitis + + Disease + + + + + + + + 309028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 + Disorder of lipid absorption and transport + + Category + + + + + + 309031 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 + Pancreatic triacylglycerol lipase deficiency + + Disease + + + + + + + + 309108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 + Pancreatic colipase deficiency + + Disease + + + + + + + + 309111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 + Combined pancreatic lipase-colipase deficiency + + Disease + + + + + + + + + + 313906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313906 + Congenital pancreatic cyst + + Morphological anomaly + + + + + + + + 697132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697132 + Lymphoepithelial cyst of the pancreas + + Disease + + + + + + + + 700133 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700133 + Idiopathic chronic pancreatitis + + Disease + + + + + + 700136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700136 + Early-onset idiopathic chronic pancreatitis + + Clinical subtype + + + + + + + + 700139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700139 + Late-onset idiopathic chronic pancreatitis + + Clinical subtype + + + + + + + + + + 700124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700124 + Autosomal recessive hereditary chronic pancreatitis + + Disease + + + + + + + + 456312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 + Infantile multisystem neurologic-endocrine-pancreatic disease + + Disease + + + + + + + + 695131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695131 + Acinar cystic transformation of the pancreas + + Disease + + + + + + + + + + 117569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117569 + Rare intestinal disease + + Category + + + + + + 3452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3452 + Whipple disease + + Disease + + + + + + + + 1116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 + Aplasia cutis congenita-intestinal lymphangiectasia syndrome + + Disease + + + + + + + + 556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556 + Malakoplakia + + Disease + + + + + + + + 36204 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204 + Intestinal lymphangiectasia + + Clinical group + + + + + + 90362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362 + Primary intestinal lymphangiectasia + + Disease + + + + + + + + 90363 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363 + Secondary intestinal lymphangiectasia + + Disease + + + + + + + + 566175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 + Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome + + Disease + + + + + + + + + + 70475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70475 + Radiation proctitis + + Disease + + + + + + + + 73014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014 + Intractable diarrhea of infancy + + Category + + + + + + 2290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 + Microvillus inclusion disease + + Disease + + + + + + + + 1670 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 + Chronic diarrhea with villous atrophy + + Disease + + + + + + + + 84064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 + Trichohepatoenteric syndrome + + Disease + + + + + + + + 92050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 + Congenital tufting enteropathy + + Disease + + + + + + + + 137622 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 + Intractable diarrhea-choanal atresia-eye anomalies syndrome + + Malformation syndrome + + + + + + + + 329242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 + Congenital chronic diarrhea with protein-losing enteropathy + + Disease + + + + + + + + 103908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 + Congenital sodium diarrhea + + Disease + + + + + + + + 563708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 + Syndromic congenital sodium diarrhea + + Disease + + + + + + + + 522037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037 + Primary autoimmune enteropathy + + Disease + + + + + + + + 522043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 + Syndromic autoimmune enteropathy + + Clinical group + + + + + + 37042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 + Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome + + Disease + + + + + + + + 436159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 + Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency + + Disease + + + + + + + + 391487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 + STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + + Disease + + + + + + + + 169100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 + Immunodeficiency due to CD25 deficiency + + Disease + + + + + + + + 438159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 + STAT3-related early-onset multisystem autoimmune disease + + Disease + + + + + + + + 220465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 + Laron syndrome with immunodeficiency + + Disease + + + + + + + + 228426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 + Syndromic multisystem autoimmune disease due to Itch deficiency + + Disease + + + + + + + + 3453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 + Autoimmune polyendocrinopathy type 1 + + Disease + + + + + + + + 445018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 + Syndromic autoimmune enteropathy due to LRBA deficiency + + Disease + + + + + + + + + + + + 94075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94075 + Severe immune-mediated enteropathy + + Category + + + + + + 572 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 + Immunodeficiency by defective expression of MHC class II + + Disease + + + + + + + + 397959 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397959 + TCR-alpha-beta-positive T-cell deficiency + + Disease + + + + + + + + 280142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 + Combined immunodeficiency due to LCK deficiency + + Disease + + + + + + + + 522037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522037 + Primary autoimmune enteropathy + + Disease + + + + + + + + 522043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 + Syndromic autoimmune enteropathy + + Clinical group + + + + + + 37042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 + Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome + + Disease + + + + + + + + 436159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 + Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency + + Disease + + + + + + + + 391487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 + STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + + Disease + + + + + + + + 169100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 + Immunodeficiency due to CD25 deficiency + + Disease + + + + + + + + 438159 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 + STAT3-related early-onset multisystem autoimmune disease + + Disease + + + + + + + + 220465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 + Laron syndrome with immunodeficiency + + Disease + + + + + + + + 228426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 + Syndromic multisystem autoimmune disease due to Itch deficiency + + Disease + + + + + + + + 3453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 + Autoimmune polyendocrinopathy type 1 + + Disease + + + + + + + + 445018 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 + Syndromic autoimmune enteropathy due to LRBA deficiency + + Disease + + + + + + + + + + + + 104003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 + Congenital intestinal transport defect + + Category + + + + + + 469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 + Hereditary fructose intolerance + + Disease + + + + + + + + 35710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 + Glucose-galactose malabsorption + + Disease + + + + + + + + 53689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 + Congenital chloride diarrhea + + Disease + + + + + + + + 103908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 + Congenital sodium diarrhea + + Disease + + + + + + + + 563708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 + Syndromic congenital sodium diarrhea + + Disease + + + + + + + + + + 104004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004 + Intestinal disease due to vitamin absorption anomaly + + Category + + + + + + 35858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 + Imerslund-Gräsbeck syndrome + + Disease + + + + + + + + 90045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 + Hereditary folate malabsorption + + Disease + + + + + + + + + + 104005 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104005 + Intestinal disease due to fat malabsorption + + Category + + + + + + 14 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 + Abetalipoproteinemia + + Disease + + + + + + + + 71 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 + Chylomicron retention disease + + Disease + + + + + + + + 37 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 + Acrodermatitis enteropathica + + Disease + + + + + + + + 84065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065 + Idiopathic malabsorption due to bile acid synthesis defects + + Disease + + + + + + + + + + 104006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006 + Congenital intestinal disease due to an enzymatic defect + + Category + + + + + + 35122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 + Congenital sucrase-isomaltase deficiency + + Disease + + + + + + + + 53690 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 + Congenital lactase deficiency + + Disease + + + + + + + + 103907 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 + Chronic diarrhea due to glucoamylase deficiency + + Disease + + + + + + + + 103909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 + Trehalase deficiency + + Disease + + + + + + + + 168601 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 + Congenital enteropathy due to enteropeptidase deficiency + + Disease + + + + + + + + + + 104007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 + Congenital enteropathy involving intestinal mucosa development + + Category + + + + + + 2290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 + Microvillus inclusion disease + + Disease + + + + + + + + 83620 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 + Enteric anendocrinosis + + Disease + + + + + + + + 92050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 + Congenital tufting enteropathy + + Disease + + + + + + + + 103910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 + Congenital enterocyte heparan sulfate deficiency + + Disease + + + + + + + + + + 104008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008 + Short bowel syndrome + + Clinical group + + + + + + 95427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427 + Secondary short bowel syndrome + + Disease + + + + + + + + 365563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365563 + Primary short bowel syndrome + + Clinical group + + + + + + 2301 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 + Congenital short bowel syndrome + + Morphological anomaly + + + + + + + + 1201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 + Small bowel atresia + + Morphological anomaly + + + + + + + + 2368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 + Gastroschisis + + Morphological anomaly + + + + + + + + + + + + 104009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 + Rare disease involving intestinal motility + + Category + + + + + + 388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 + Hirschsprung disease + + Disease + + + + + + + + 897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 + Waardenburg-Shah syndrome + + Disease + + + + + + + + 1876 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 + Oculogastrointestinal muscular dystrophy + + Disease + + + + + + + + 2604 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 + Familial visceral myopathy + + Disease + + + + + + + + 2241 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 + Megacystis-microcolon-intestinal hypoperistalsis syndrome + + Malformation syndrome + + + + + + + + 2978 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 + Chronic intestinal pseudoobstruction syndrome + + Clinical syndrome + + + + + + 99811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 + Neuronal intestinal pseudoobstruction + + Etiological subtype + + + + + + + + 104077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 + Myopathic intestinal pseudoobstruction + + Etiological subtype + + + + + + + + 104078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 + Unclassified intestinal pseudoobstruction + + Etiological subtype + + + + + + + + + + 163746 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 + Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease + + Disease + + + + + + + + 314373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 + Chronic infantile diarrhea due to guanylate cyclase 2C overactivity + + Disease + + + + + + + + 314376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 + Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency + + Disease + + + + + + + + 404463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 + Multisystemic smooth muscle dysfunction syndrome + + Disease + + + + + + + + 2150 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 + Hirschsprung disease-type D brachydactyly syndrome + + Malformation syndrome + + + + + + + + 2153 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 + Hirschsprung disease-nail hypoplasia-dysmorphism syndrome + + Malformation syndrome + + + + + + + + 2155 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 + Hirschsprung disease-deafness-polydactyly syndrome + + Malformation syndrome + + + + + + + + 2151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 + Hirschsprung disease-ganglioneuroblastoma syndrome + + Malformation syndrome + + + + + + + + 110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 + Bardet-Biedl syndrome + + Disease + + + + + + + + 66629 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 + Goldberg-Shprintzen megacolon syndrome + + Malformation syndrome + + + + + + + + 99803 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 + Haddad syndrome + + Malformation syndrome + + + + + + + + + + 104011 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104011 + Rare tumor of intestine + + Category + + + + + + 423793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423793 + Rare tumor of small intestine + + Category + + + + + + 652658 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652658 + Monomorphic epitheliotropic intestinal T-cell lymphoma + + Disease + + + + + + + + 86880 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86880 + Enteropathy-associated T-cell lymphoma + + Disease + + + + + + + + 423798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423798 + Mesenchymal tumor of small intestine + + Category + + + + + + 44890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 + Gastrointestinal stromal tumor + + Disease + + + + + + + + 104076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104076 + Leiomyosarcoma of small intestine + + Disease + + + + + + + + + + 425368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425368 + Rare epithelial tumor of small intestine + + Category + + + + + + 423957 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423957 + Rare carcinoma of small intestine + + Category + + + + + + 104075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104075 + Adenocarcinoma of the small intestine + + Disease + + + + + + + + 423968 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423968 + Squamous cell carcinoma of the small intestine + + Disease + + + + + + + + + + 423975 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975 + Neuroendocrine tumor of the small intestine + + Category + + + + + + 100076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076 + Duodenal neuroendocrine tumor + + Category + + + + + + 97283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 + Somatostatinoma + + Disease + + + + + + + + 913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913 + Zollinger-Ellison syndrome + + Disease + + + + + + + + + + 100077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077 + Jejunal neuroendocrine tumor + + Category + + + + + + 97283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283 + Somatostatinoma + + Disease + + + + + + + + + + 100078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078 + Ileal neuroendocrine tumor + + Disease + + + + + + + + + + + + + + 423982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423982 + Epithelial tumor of the appendix + + Category + + + + + + 100079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079 + Neuroendocrine neoplasm of appendix + + Disease + + + + + + 329977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977 + Classic neuroendocrine tumor of appendix + + Clinical subtype + + + + + + + + 329984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984 + Goblet cell carcinoma + + Clinical subtype + + + + + + + + + + 391723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391723 + Mucinous adenocarcinoma of the appendix + + Disease + + + + + + + + + + 423991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423991 + Rare epithelial tumor of colon + + Category + + + + + + 100080 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080 + Neuroendocrine tumor of the colon + + Disease + + + + + + + + 423994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423994 + Squamous cell carcinoma of the colon + + Disease + + + + + + + + + + 423998 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423998 + Rare epithelial tumor of rectum + + Category + + + + + + 100081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081 + Neuroendocrine tumor of the rectum + + Disease + + + + + + + + 424002 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424002 + Squamous cell carcinoma of the rectum + + Disease + + + + + + + + + + 424010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424010 + Epithelial tumor of anal canal + + Category + + + + + + 100082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082 + Neuroendocrine tumor of anal canal + + Disease + + + + + + + + 424013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424013 + Carcinoma of the anal canal + + Clinical group + + + + + + 424016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424016 + Adenocarcinoma of the anal canal + + Disease + + + + + + + + 424019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424019 + Squamous cell carcinoma of the anal canal + + Disease + + + + + + + + + + + + + + 104012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104012 + Rare inflammatory bowel disease + + Category + + + + + + 717851 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717851 + Rare non-syndromic inflammatory bowel disease + + Clinical group + + + + + + 103908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 + Congenital sodium diarrhea + + Disease + + + + + + + + 468641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 + Chronic enteropathy associated with SLCO2A1 gene + + Disease + + + + + + + + 597201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 + TRIM22-related inflammatory bowel disease + + Disease + + + + + + + + 477661 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 + IL21-related infantile inflammatory bowel disease + + Disease + + + + + + + + 597887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 + ALPI-related inflammatory bowel disease + + Disease + + + + + + + + 714410 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714410 + CARD8-related inflammatory bowel disease + + Disease + + + + + + + + 714481 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714481 + SCGN-related severe early-onset hereditary ulcerative colitis + + Disease + + + + + + + + 714484 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714484 + AGR2-related infantile-onset inflammatory bowel disease + + Disease + + + + + + + + 714490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714490 + PERCC1-related congenital intractable malabsorptive diarrhea + + Disease + + + + + + + + 53689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 + Congenital chloride diarrhea + + Disease + + + + + + + + + + 717862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717862 + Rare disorder with inflammatory bowel disease + + Category + + + + + + 717865 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717865 + Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease + + Category + + + + + + 314373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 + Chronic infantile diarrhea due to guanylate cyclase 2C overactivity + + Disease + + + + + + + + 714487 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714487 + Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome + + Disease + + + + + + + + 84064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 + Trichohepatoenteric syndrome + + Disease + + + + + + + + 92050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 + Congenital tufting enteropathy + + Disease + + + + + + + + 2881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2881 + Cutaneous photosensitivity-lethal colitis syndrome + + Disease + + + + + + + + + + 717757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717757 + Rare immune disease with inflammatory bowel disease + + Category + + + + + + 714423 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714423 + Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome + + Disease + + + + + + + + 714496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714496 + Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome + + Disease + + + + + + + + 714477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714477 + Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome + + Disease + + + + + + + + 714493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714493 + Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency + + Disease + + + + + + + + 714472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714472 + Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome + + Disease + + + + + + + + + + 717868 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717868 + Rare skin disease with inflammatory bowel disease + + Category + + + + + + + + 717871 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717871 + Rare systemic or rheumatologic diseases with inflammatory bowel disease + + Category + + + + + + + + 717874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717874 + Rare inborn error of metabolism with inflammatory bowel disease + + Category + + + + + + + + 717877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717877 + Rare miscellaneous disease with inflammatory bowel disease + + Category + + + + + + + + + + + + 104013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013 + Metabolic disease with intestinal involvement + + Category + + + + + + 699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 + Pearson syndrome + + Disease + + + + + + + + 298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 + Mitochondrial neurogastrointestinal encephalomyopathy + + Disease + + + + + + + + 371188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371188 + Congenital disorder of glycosylation with intestinal involvement + + Category + + + + + + 79319 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 + MPI-CDG + + Disease + + + + + + + + 79320 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 + ALG6-CDG + + Disease + + + + + + + + 79325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 + ALG8-CDG + + Disease + + + + + + + + + + + + 209964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209964 + Solitary rectal ulcer syndrome + + Disease + + + + + + + + 294422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294422 + Chronic intestinal failure + + Clinical syndrome + + + + + + + + 397606 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 + PrP systemic amyloidosis + + Disease + + + + + + + + 398063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398063 + Refractory celiac disease + + Disease + + + + + + + + 435988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 + Chronic atrial and intestinal dysrhythmia syndrome + + Disease + + + + + + + + 436166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 + Periodic fever-infantile enterocolitis-autoinflammatory syndrome + + Disease + + + + + + + + 693832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693832 + Gastrointestinal tract arteriovenous malformation + + Malformation syndrome + + + + + + + + 565641 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565641 + Primary desmosis coli + + Disease + + + + + + + + 583861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583861 + Isolated mesenteric vein thrombosis + + Disease + + + + + + + + 622099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622099 + Superior mesenteric artery syndrome + + Disease + + + + + + + + 645793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645793 + Spontaneous intestinal perforation + + Disease + + + + + + + + 160148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148 + Cap polyposis + + Disease + + + + + + + + 217067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217067 + Pouchitis + + Particular clinical situation in a disease or syndrome + + + + + + + + 228113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228113 + Anal fistula + + Particular clinical situation in a disease or syndrome + + + + + + + + 238621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238621 + Ileal pouch anal anastomosis related faecal incontinence + + Particular clinical situation in a disease or syndrome + + + + + + + + 468635 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 + Cryptogenic multifocal ulcerous stenosing enteritis + + Disease + + + + + + + + 477787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 + Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder + + Disease + + + + + + + + 3130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130 + Satoyoshi syndrome + + Disease + + + + + + + + 391673 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391673 + Necrotizing enterocolitis + + Disease + + + + + + + + + + 263665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263665 + NK-cell enteropathy + + Disease + + + + + + + + 276142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276142 + Rare tumor of salivary glands + + Category + + + + + + 276145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276145 + Malignant epithelial tumor of salivary glands + + Disease + + + + + + + + 276148 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148 + Benign epithelial tumor of salivary glands + + Disease + + + + + + + + + + 300557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300557 + Carcinoma of the ampulla of Vater + + Disease + + + + + + + + 402029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402029 + Primary eosinophilic gastrointestinal disease + + Clinical group + + + + + + 2070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2070 + Eosinophilic gastroenteritis + + Disease + + + + + + + + 402035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402035 + Eosinophilic colitis + + Disease + + + + + + + + + + 425003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425003 + Inherited digestive cancer-predisposing syndrome + + Category + + + + + + 99361 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361 + Isolated familial medullary thyroid carcinoma + + Disease + + + + + + + + 652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 + Multiple endocrine neoplasia type 1 + + Disease + + + + + + + + 653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 + Multiple endocrine neoplasia type 2 + + Disease + + + + + + 247698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 + Multiple endocrine neoplasia type 2A + + Clinical subtype + + + + + + + + 247709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 + Multiple endocrine neoplasia type 2B + + Clinical subtype + + + + + + + + + + 104010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 + Intestinal polyposis syndrome + + Clinical group + + + + + + 261584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 + 5q22 microdeletion syndrome + + Disease + + + + + + + + 247798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 + MUTYH-related polyposis + + Disease + + + + + + + + 447877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 + Polymerase proofreading-related polyposis + + Disease + + + + + + + + 454840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 + NTHL1-related polyposis + + Disease + + + + + + + + 480536 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 + MSH3-related polyposis + + Disease + + + + + + + + 733 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 + Familial adenomatous polyposis + + Disease + + + + + + + + 2869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 + Peutz-Jeghers syndrome + + Disease + + + + + + + + 201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 + Cowden syndrome + + Clinical subtype + + + + + + + + 2929 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 + Juvenile polyposis syndrome + + Disease + + + + + + 79076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 + Juvenile polyposis of infancy + + Clinical subtype + + + + + + + + 329971 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 + Generalized juvenile polyposis/juvenile polyposis coli + + Clinical subtype + + + + + + + + + + 109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 + Bannayan-Riley-Ruvalcaba syndrome + + Clinical subtype + + + + + + + + 2930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 + Cronkhite-Canada syndrome + + Disease + + + + + + + + 157794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 + Hereditary mixed polyposis syndrome + + Disease + + + + + + + + 157798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 + Serrated polyposis syndrome + + Disease + + + + + + + + 220460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 + Attenuated familial adenomatous polyposis + + Disease + + + + + + + + 401911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 + AXIN2-related polyposis + + Disease + + + + + + + + + + 443909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909 + Hereditary nonpolyposis colon cancer + + Clinical group + + + + + + 144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 + Lynch syndrome + + Disease + + + + + + + + 440437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 + Familial colorectal cancer Type X + + Disease + + + + + + + + + + 456333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 + Hereditary neuroendocrine tumor of small intestine + + Disease + + + + + + + + + + 583856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583856 + Isolated splenic vein thrombosis + + Disease + + + + + + + + 645859 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645859 + Primary tuberculosis of the digestive system + + Disease + + + + + + + + 696175 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696175 + Encapsulating peritoneal sclerosis + + Disease + + + + + + + + + + +