Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Cap Polyposis |
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Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis |
ORPHA:160148 |
Ménétrier Disease |
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Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, D... |
ORPHA:2494 |
Immunodeficiency 57 With Autoinflammation |
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Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
Tumor Predisposition Syndrome 4 |
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Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Gastritis, Familial Giant Hypertrophic |
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Giant hypertrophic gastritis |
OMIM:137280 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho... |
ORPHA:263665 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:616576 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphoma, Lymphocytic i... |
ORPHA:436159 |
Colorectal Cancer |
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Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... |
OMIM:616100 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
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Diarrhea, Gastritis |
ORPHA:2575 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, C... |
OMIM:614700 |
Muir-Torre Syndrome |
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Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Familial Adenomatous Polyposis 3 |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology |
ORPHA:234 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
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Absence of intrinsic factor |
OMIM:243320 |
Mixed Connective Tissue Disease |
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Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Xerostomi... |
ORPHA:809 |
Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:265950 |
Reynolds Syndrome |
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Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,... |
ORPHA:779 |
Muir-Torre Syndrome |
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Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Zygomycosis |
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Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Chronic constipation, Inflammation of t... |
OMIM:301074 |
Li-Fraumeni Syndrome |
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Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... |
OMIM:240300 |
Hereditary Mixed Polyposis Syndrome |
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Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, B-cell lymphoma, Hepatitis, Hodgki... |
ORPHA:3261 |
Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Punctate Palmoplantar Keratoderma Type 1 |
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Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Osteomyelitis, Duodenal ulcer, Pneumonia, Skin rash, Recurrent skin infections, ... |
OMIM:619381 |
Familial Adenomatous Polyposis 1 |
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Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... |
OMIM:175100 |
Mismatch Repair Cancer Syndrome 1 |
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Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous c... |
ORPHA:227982 |
Syndromic Diarrhea |
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Villous atrophy, Gastritis, Hepatoblastoma, Patent ductus arteriosus, Bloody diarrhea, Colitis, I... |
ORPHA:84064 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Familial Adenomatous Polyposis |
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Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
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Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Ethylene Glycol Poisoning |
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Gastritis, Vomiting, Nausea |
ORPHA:31826 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
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Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... |
ORPHA:44890 |
Aicardi-Goutieres Syndrome 7 |
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Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de... |
OMIM:615846 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... |
OMIM:619573 |
Alpha-1-Antitrypsin Deficiency |
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Bronchiectasis, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Syndromic Recessive X-Linked Ichthyosis |
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Testicular seminoma, Acute leukemia, Abnormal stomach morphology |
ORPHA:281090 |
Gastrointestinal Stromal Tumor |
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Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia |
OMIM:606764 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Intrinsic Factor Deficiency |
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Absence of intrinsic factor |
OMIM:261000 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Eczema, Pneumonia, Patent ductus arteriosus, Diarrhea, Peritonitis, Vomiting, ... |
OMIM:619991 |
Trichorhinophalangeal Syndrome, Type Ii |
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Osteochondroma, Chronic gastritis, Recurrent pneumonia, Osteoma, Rib exostoses, Vomiting, Gastroe... |
OMIM:150230 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Adenocarcinoma Of The Anal Canal |
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Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Bronchogenic Cyst |
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Abnormal esophagus morphology, Pneumonia, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Neuroendocrine Neoplasm Of Appendix |
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Functional intestinal obstruction, Mechanical ileus, Midgut malrotation, Protracted diarrhea, Ova... |
ORPHA:100079 |
Wolfram Syndrome 2 |
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Gastric ulcer |
OMIM:604928 |
Arteriosclerosis, Severe Juvenile |
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Gastric ulcer |
OMIM:208060 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Williams Syndrome |
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Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Patent duct... |
ORPHA:904 |
Wolfram Syndrome |
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Gastrointestinal hemorrhage, Gastric ulcer, Constipation, Malabsorption |
ORPHA:3463 |
Microgastria-Limb Reduction Defect Syndrome |
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Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, Duodenal stenos... |
ORPHA:141127 |
Metachromatic Leukodystrophy |
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Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m... |
ORPHA:512 |
Coffin-Siris Syndrome 1 |
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Duodenal ulcer, Intestinal malrotation, Patent ductus arteriosus, Cleft palate, Gastric ulcer, Hi... |
OMIM:135900 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Gastric ulcer, Esophageal varix, Bacterial endocarditis |
ORPHA:2072 |
Primary Sclerosing Cholangitis |
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Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Hepatitis, Uveitis, Ulcerative coli... |
ORPHA:171 |