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 |
Jejunal Atresia |
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Jejunal atresia |
OMIM:243600 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
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 |
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 |
Lactose Intolerance, Adult Type |
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Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Diarrhea 11, Malabsorptive, Congenital |
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Villous atrophy |
OMIM:618662 |
Diarrhea 9 |
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Villous atrophy |
OMIM:618168 |
Pancreatic Lipase Deficiency |
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Fat malabsorption, Steatorrhea |
OMIM:614338 |
Bile Acid Malabsorption, Primary, 1 |
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Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
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 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Duodenal Atresia |
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Duodenal atresia |
OMIM:223400 |
Familial Adenomatous Polyposis 2 |
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Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
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 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Lactase Deficiency, Congenital |
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Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Polyposis Syndrome, Hereditary Mixed, 2 |
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Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Vascular Hyalinosis |
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Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Hypercholanemia, Familial 1 |
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Fat malabsorption, Steatorrhea |
OMIM:607748 |
Duodenal Ulcer, Hyperpepsinogenemic I |
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Duodenal ulcer |
OMIM:126850 |
Alpha-Heavy Chain Disease |
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Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Small Bowel Atresia |
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Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation |
ORPHA:1201 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Polyposis, Intestinal, Scattered And Discrete |
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Discrete intestinal polyps |
OMIM:175400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Protein-losing enteropathy |
OMIM:619063 |
Sessile Serrated Polyposis Cancer Syndrome |
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Serrated intestinal polyps |
OMIM:617108 |
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 |
Pancreatic Colipase Deficiency |
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Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Feingold Syndrome Type 2 |
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Jejunal atresia |
ORPHA:391646 |
Intussusception |
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Intussusception |
OMIM:147710 |
Agammaglobulinemia 4, Autosomal Recessive |
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Protein-losing enteropathy |
OMIM:613502 |
Secondary Short Bowel Syndrome |
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Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Colonic Atresia |
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Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Chylomicron Retention Disease |
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Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Eosinophilic Gastroenteritis |
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Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
Martinez-Frias Syndrome |
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Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Thoraco-Abdominal Enteric Duplication |
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Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Abetalipoproteinemia |
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Fat malabsorption |
OMIM:200100 |
Mitchell-Riley Syndrome |
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Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Mungan Syndrome |
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Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Proprotein Convertase 1/3 Deficiency |
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Villous atrophy, Malabsorption |
OMIM:600955 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Protein-losing enteropathy |
OMIM:618154 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
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Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Tremor, Nystagmus, And Duodenal Ulcer |
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Duodenal ulcer |
OMIM:190310 |
Trigonocephaly 1 |
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High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Colitis, Ileal ulcer |
OMIM:616744 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Alg1-Cdg |
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Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Duodenal Atresia |
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Duodenal atresia |
ORPHA:1203 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
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 |
Mpi-Cdg |
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Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Refractory Celiac Disease |
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Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Duodenal stenosis |
ORPHA:2547 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Cog8-Cdg |
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Protein-losing enteropathy |
ORPHA:95428 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
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Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Duodenal atresia |
ORPHA:3004 |
Serkal Syndrome |
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Malrotation of small bowel |
ORPHA:139466 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Fat malabsorption |
ORPHA:79302 |
Pericardial And Diaphragmatic Defect |
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Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Fat malabsorption |
OMIM:211600 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hematochezia, Fat malabsorption |
OMIM:214950 |
Congenital Disorder Of Glycosylation, Type Ih |
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Protein-losing enteropathy |
OMIM:608104 |
Juvenile Polyposis Of Infancy |
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Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Autoinflammation With Infantile Enterocolitis |
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Villous atrophy, Enterocolitis |
OMIM:616050 |
Chylomicron Retention Disease |
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Fat malabsorption, Steatorrhea |
ORPHA:71 |
Visceral Myopathy 1 |
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Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Trichohepatoenteric Syndrome 2 |
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Villous atrophy, Colitis |
OMIM:614602 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Congenital Alveolar Capillary Dysplasia |
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Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Cat Eye Syndrome |
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Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Bare Lymphocyte Syndrome, Type Ii |
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Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Scedosporiosis |
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Abnormal jejunum morphology |
ORPHA:449280 |
Netherton Syndrome |
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Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Trichothiodystrophy 3, Photosensitive |
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Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy |
OMIM:618440 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Primary Intestinal Lymphangiectasia |
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Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... |
ORPHA:90362 |
Immunodeficiency 31C |
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Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Immunodeficiency 85 And Autoimmunity |
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Villous atrophy |
OMIM:619510 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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High palate, Protein-losing enteropathy, Cleft palate |
OMIM:235255 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus |
OMIM:304790 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Intestinal lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Narrow palate |
OMIM:235510 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum |
OMIM:311900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Protein-losing enteropathy |
ORPHA:1655 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine |
OMIM:200995 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Matthew-Wood Syndrome |
|
Duodenal stenosis |
ORPHA:2470 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time |
OMIM:619377 |
Tarp Syndrome |
|
Glossoptosis, Tongue nodules, Cleft palate, Abnormal duodenum morphology |
ORPHA:2886 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Fat malabsorption |
ORPHA:96180 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, High palate, Cleft palate |
ORPHA:2953 |
Isolated Biliary Atresia |
|
Acholic stools, Fat malabsorption |
ORPHA:30391 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Enterocolitis, Hematochezia, Melena, Unusual... |
ORPHA:73263 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... |
OMIM:229850 |
Mosaic Trisomy 16 |
|
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum |
ORPHA:1708 |
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 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Steatorrhea |
OMIM:557000 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy |
ORPHA:567983 |
Abetalipoproteinemia |
|
Fat malabsorption, Steatorrhea |
ORPHA:14 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:84 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea |
ORPHA:811 |
Trisomy 8P |
|
Malrotation of small bowel, Bifid uvula, Cleft palate |
ORPHA:264450 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Small bowel diverticula |
ORPHA:90349 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Cleft palate |
OMIM:274000 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |
Genitopatellar Syndrome |
|
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Anal atresia |
OMIM:606170 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Protein-losing enteropathy |
OMIM:619991 |
Autosomal Dominant Cutis Laxa |
|
Small bowel diverticula |
ORPHA:90348 |
Wolf-Hirschhorn Syndrome |
|
Malrotation of small bowel, Gastroesophageal reflux, Cleft palate |
OMIM:194190 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Cleft palate, Narrow palate, Macrogloss... |
OMIM:312870 |