Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Lynch Syndrome 2 |
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Colon cancer |
OMIM:609310 |
Lynch Syndrome 1 |
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Colon cancer |
OMIM:120435 |
Colorectal Cancer, Susceptibility To, 3 |
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Colon cancer |
OMIM:612229 |
Meckel Diverticulum |
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Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
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Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
Chronic Intestinal Pseudoobstruction |
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Intestinal malrotation, Patent ductus arteriosus, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Familial Adenomatous Polyposis 2 |
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Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
Hirschsprung Disease, Susceptibility To, 3 |
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Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon |
OMIM:613711 |
Polyposis Syndrome, Hereditary Mixed, 2 |
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Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... |
OMIM:610069 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Abnormal intestine morphology, Villous atrophy, Protracted diarrhea |
OMIM:251850 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... |
ORPHA:2198 |
Meconium Ileus |
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Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Hirschsprung Disease, Susceptibility To, 1 |
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Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocolitis |
OMIM:142623 |
Visceral Myopathy 2 |
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Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Pelvic Organ Prolapse, Susceptibility To |
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Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
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Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
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Colonic diverticula, Vomiting, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic... |
OMIM:243180 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
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Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal fistula |
OMIM:612567 |
Nk-Cell Enteropathy |
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Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Visceral Myopathy 1 |
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Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... |
OMIM:155310 |
Intussusception |
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Intussusception |
OMIM:147710 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
Radiation Proctitis |
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Hematochezia, Diarrhea, Abnormal rectum morphology, Intestinal obstruction, Constipation, Rectal ... |
ORPHA:70475 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Intestinal malrotation, Microcolon |
OMIM:619431 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Microcolon, Intestinal malrotation, Cryptorchidism, Abnormality of the gastrointestinal tract, Hy... |
ORPHA:2241 |
Juvenile Polyposis Syndrome |
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Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neopla... |
OMIM:174900 |
Mednik Syndrome |
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Microcolon, Diarrhea, Volvulus, Jejunal atresia |
OMIM:609313 |
Congenital Tufting Enteropathy |
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Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... |
ORPHA:92050 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Peritonitis, Microcolon, Ileal atresia, Patent ductus arteriosus |
OMIM:619351 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Microcolon, Ileus, Constipation |
ORPHA:163746 |
Fg Syndrome Type 1 |
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Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Cryptorchidi... |
ORPHA:93932 |
Systemic Sclerosis |
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Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Absent gallbladder,... |
OMIM:600001 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Narrow palate, Abnormal large intestine morphology, Hamartomatous polyposis |
ORPHA:109 |
Restrictive Dermopathy |
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Aplasia/Hypoplastia of the eccrine sweat glands, Microcolon, Patent ductus arteriosus, Submucous ... |
ORPHA:1662 |