Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Gastric Cancer |
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Stomach cancer |
OMIM:613659 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
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Absence of intrinsic factor |
OMIM:243320 |
Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:265950 |
Ménétrier Disease |
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Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... |
OMIM:619079 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
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Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
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Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Colorectal Cancer |
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Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Tumor Predisposition Syndrome 4 |
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Stomach cancer |
OMIM:609265 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology |
ORPHA:234 |
Cap Polyposis |
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Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation |
ORPHA:160148 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:612138 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Alpha-1-Antitrypsin Deficiency |
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Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Gastritis, Familial Giant Hypertrophic |
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Giant hypertrophic gastritis |
OMIM:137280 |
Esophageal Ring, Lower |
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Dysphagia, Hiatus hernia |
OMIM:133240 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Intrinsic Factor Deficiency |
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Absence of intrinsic factor |
OMIM:261000 |
Syndromic Recessive X-Linked Ichthyosis |
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Cryptorchidism, Testicular seminoma, Abnormal stomach morphology |
ORPHA:281090 |
Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Peutz-Jeghers Syndrome |
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Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Inflammation of the large intestine, Gastritis, Diarrhea |
OMIM:618108 |
Thrombocytopenia, Paris-Trousseau Type |
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Pyloric stenosis |
OMIM:188025 |
Bronchogenic Cyst |
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Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach |
ORPHA:618 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Fg Syndrome 3 |
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Cryptorchidism, Chronic constipation, Pyloric stenosis |
OMIM:300406 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
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Pyloric stenosis |
OMIM:133705 |
Muir-Torre Syndrome |
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Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... |
ORPHA:587 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate |
ORPHA:314575 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis |
OMIM:614262 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux |
ORPHA:98892 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis |
OMIM:617219 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis |
OMIM:616576 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... |
ORPHA:512 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer |
OMIM:608615 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease |
OMIM:616100 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux |
OMIM:256300 |
Williams Syndrome |
|
Colonic diverticula, Peptic ulcer, Malabsorption, Cryptorchidism, Rectal prolapse, Abnormal gastr... |
ORPHA:904 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Gastric ulcer, Constipation, Malabsorption |
ORPHA:3463 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... |
ORPHA:436159 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Diarrhea, Chronic constipation, Inflammation of the large in... |
OMIM:301074 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption |
ORPHA:379 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Gastritis |
ORPHA:809 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Ileus, Secretory diarrhea, Colitis, Abnormal intestine morphology, Vomi... |
ORPHA:37042 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Diarrhea, Peritonitis, Enterocolitis, Hemato... |
ORPHA:73263 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... |
OMIM:301068 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Vomiting, Congenital pyloric atresia |
ORPHA:158684 |
Ethylene Glycol Poisoning |
|
Gastritis, Vomiting, Nausea |
ORPHA:31826 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Hepatoblastoma, I... |
ORPHA:84064 |
Knobloch Syndrome 2 |
|
Pyloric stenosis, Chronic constipation |
OMIM:618458 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Gastric ulcer, Esophageal varix |
ORPHA:2072 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Cryptorchidism, Cleft palate, Gastric ulcer, High palate,... |
OMIM:135900 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... |
OMIM:619381 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Colitis, Recurrent aphthous stomatitis, Hepatocellular carcinoma, Neoplasm of the tongue |
ORPHA:3261 |