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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 esophagus
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
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
Solid pseudopapillary carcinoma of pancreas
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
456312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312
Infantile multisystem neurologic-endocrine-pancreatic disease
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
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
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
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
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
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
500481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500481
Squamous cell carcinoma of salivary glands
Histopathological subtype
276148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276148
Benign epithelial tumor of salivary glands
Disease
454821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454821
Pleomorphic salivary gland adenoma
Histopathological subtype
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
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
733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733
Familial adenomatous polyposis
Disease
79665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Gardner syndrome
Clinical subtype
99818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99818
Turcot syndrome with polyposis
Clinical subtype
261584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584
Familial adenomatous polyposis due to 5q22.2 microdeletion
Etiological subtype
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
Disease
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
Malformation syndrome
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
247798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798
MUTYH-related attenuated familial adenomatous polyposis
Clinical subtype
247806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247806
APC-related attenuated familial adenomatous polyposis
Clinical subtype
401911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911
AXIN2-related attenuated familial adenomatous polyposis
Clinical subtype
480536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536
MSH3-related attenuated familial adenomatous polyposis
Clinical subtype
447877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877
Polymerase proofreading-related adenomatous polyposis
Clinical subtype
454840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840
NTHL1-related attenuated familial adenomatous polyposis
Clinical subtype
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