Epilepsy With Bilateral Occipital Calcifications |
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Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
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Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Duodenal Atresia |
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Duodenal atresia |
OMIM:223400 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Jejunal Atresia |
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Jejunal atresia |
OMIM:243600 |
Lynch Syndrome 1 |
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Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
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Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
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Colon cancer |
OMIM:612229 |
Multiple Intestinal Atresia |
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Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
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Ileitis |
OMIM:618287 |
Duodenal Ulcer, Hyperpepsinogenemic I |
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Duodenal ulcer |
OMIM:126850 |
Diarrhea 11, Malabsorptive, Congenital |
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Villous atrophy |
OMIM:618662 |
Pancreatic Lipase Deficiency |
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Fat malabsorption, Steatorrhea |
OMIM:614338 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
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Duodenal ulcer |
ORPHA:3350 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
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Duodenal ulcer |
OMIM:126840 |
Bile Acid Malabsorption, Primary, 1 |
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Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Diarrhea 9 |
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Villous atrophy |
OMIM:618168 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Annular Pancreas |
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High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
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High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Martinez-Frias Syndrome |
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Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Polyposis, Intestinal, Scattered And Discrete |
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Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
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Serrated intestinal polyps |
OMIM:617108 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Intussusception |
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Intussusception |
OMIM:147710 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Duodenal Atresia |
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Duodenal atresia |
ORPHA:1203 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Duodenal ulcer |
OMIM:190310 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Mitchell-Riley Syndrome |
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Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Vascular Hyalinosis |
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Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Hypercholanemia, Familial 1 |
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Fat malabsorption, Steatorrhea |
OMIM:607748 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Alpha-Heavy Chain Disease |
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Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Secondary Short Bowel Syndrome |
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Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Duodenal atresia |
ORPHA:3004 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Pancreatic Colipase Deficiency |
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Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Familial Adenomatous Polyposis 4 |
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Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Protein-losing enteropathy |
OMIM:619063 |
Congenital Contractural Arachnodactyly |
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Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
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Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Colonic Atresia |
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Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Agammaglobulinemia 4, Autosomal Recessive |
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Protein-losing enteropathy |
OMIM:613502 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Eosinophilic Gastroenteritis |
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Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Chylomicron Retention Disease |
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Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Mungan Syndrome |
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Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Fanconi Anemia, Complementation Group W |
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Duodenal atresia |
OMIM:617784 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Esophageal Atresia |
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Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
Fryns Syndrome |
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Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu... |
ORPHA:2059 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
Fanconi Anemia, Complementation Group B |
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Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Feingold Syndrome |
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Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Alg1-Cdg |
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Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Alg6-Cdg |
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Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Congenital Disorder Of Glycosylation, Type Ib |
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Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Refractory Celiac Disease |
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Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Gastrointestinal dysmotility, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Stromme Syndrome |
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Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia |
OMIM:243605 |
Abetalipoproteinemia |
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Fat malabsorption |
OMIM:200100 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Protein-losing enteropathy |
OMIM:618154 |
Feingold Syndrome Type 1 |
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Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Mpi-Cdg |
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Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,... |
ORPHA:247806 |
Microform Holoprosencephaly |
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Cleft palate, Duodenal atresia |
ORPHA:280200 |
Gardner Syndrome |
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Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino... |
ORPHA:79665 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Feingold Syndrome 1 |
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Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Juvenile Polyposis Of Infancy |
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Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Familial Adenomatous Polyposis 1 |
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Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Plasminogen Deficiency, Type I |
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Duodenal ulcer |
OMIM:217090 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Duodenal atresia |
OMIM:614114 |
Mosaic Variegated Aneuploidy Syndrome |
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Intestinal polyposis, Cleft palate, Colon cancer, Stomach cancer, Duodenal atresia |
ORPHA:1052 |
Fryns Syndrome |
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Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... |
OMIM:229850 |
Cog8-Cdg |
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Protein-losing enteropathy |
ORPHA:95428 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Cleft palate, Duodenal atresia |
OMIM:257300 |
Cat Eye Syndrome |
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Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Congenital Disorder Of Glycosylation, Type Ih |
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Protein-losing enteropathy |
OMIM:608104 |
Zollinger-Ellison Syndrome |
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Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hematochezia, ... |
ORPHA:913 |
Fanconi Anemia, Complementation Group F |
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Duodenal atresia |
OMIM:603467 |
Pericardial And Diaphragmatic Defect |
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Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Duodenal atresia |
ORPHA:2092 |
Familial Adenomatous Polyposis |
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Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g... |
ORPHA:733 |
Miller-Dieker Lissencephaly Syndrome |
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Cleft palate, Duodenal atresia |
OMIM:247200 |
Jacobsen Syndrome |
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Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, Ectopic anus, Duodenal atresia |
ORPHA:2308 |
Visceral Myopathy 1 |
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Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Distal Deletion 12Q |
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High, narrow palate, Esophageal atresia, Pyloric stenosis, Microglossia, Duodenal atresia |
ORPHA:96149 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Pyloric stenosis, Gastroesophageal reflux, Duodenal atresia |
ORPHA:464306 |
Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gastroesophageal reflux, Duodenal atresia |
ORPHA:464311 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Furrowed tongue, High palate, Duodenal atresia |
OMIM:616975 |
Chylomicron Retention Disease |
|
Fat malabsorption, Steatorrhea |
ORPHA:71 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Duodenal atresia |
ORPHA:468631 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Protein-losing enteropathy, Cleft palate |
OMIM:235255 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Intestinal lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Narrow palate |
OMIM:235510 |
Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy |
OMIM:618440 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Iniencephaly |
|
Anal atresia, Duodenal atresia |
ORPHA:63259 |
Hypoplasminogenemia |
|
Duodenal ulcer |
ORPHA:722 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |
Diets-Jongmans Syndrome |
|
Duodenal atresia |
OMIM:618846 |
Spondyloocular Syndrome |
|
Duodenal ulcer |
OMIM:605822 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Protein-losing enteropathy |
ORPHA:1655 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova... |
OMIM:107480 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Hematemesis, Melena, Zollinger-Ellison syndrome, Gastroesophageal r... |
ORPHA:652 |
Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Duodenal atresia |
OMIM:270100 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric ulcer, High palate, Intussusception |
OMIM:135900 |
Tarp Syndrome |
|
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology |
ORPHA:2886 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Charge Syndrome |
|
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysphagia, Anal atres... |
OMIM:214800 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology |
OMIM:601776 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Protein-losing enteropathy |
OMIM:619991 |