Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Lynch Syndrome 1 |
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Colon cancer |
OMIM:120435 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Desmoid Disease, Hereditary |
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Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Familial Adenomatous Polyposis 2 |
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Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Polyposis Syndrome, Hereditary Mixed, 2 |
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Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Pelvic Organ Prolapse, Susceptibility To |
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Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
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Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
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Colonic diverticula, Aganglionic megacolon, Intestinal pseudo-obstruction, Intestinal malrotation... |
OMIM:243180 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer |
OMIM:613244 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
Solitary Rectal Ulcer Syndrome |
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Anal fissure, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid... |
ORPHA:209964 |
Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Diarrhea, Vomiting, Constipa... |
OMIM:155310 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation |
OMIM:619431 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... |
ORPHA:2241 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Volvulus, Microcolon |
OMIM:609313 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Ileus, Constipation, Microcolon |
ORPHA:163746 |
Fg Syndrome Type 1 |
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Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, High... |
ORPHA:93932 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Intestinal malrotation, Patent ductus arteriosus, Colon perforation, Pancreat... |
OMIM:600001 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis |
ORPHA:109 |
Restrictive Dermopathy |
|
Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Submucous cleft hard p... |
ORPHA:1662 |