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 |
Diarrhea 11, Malabsorptive, Congenital |
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Villous atrophy |
OMIM:618662 |
Diarrhea 9 |
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Villous atrophy |
OMIM:618168 |
Lactose Intolerance, Adult Type |
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Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Jejunal Atresia |
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Jejunal atresia |
OMIM:243600 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Multiple Intestinal Atresia |
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Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Lactase Deficiency, Congenital |
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Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
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Ileitis |
OMIM:618287 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Duodenal Atresia |
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Duodenal atresia |
OMIM:223400 |
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 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Secondary Short Bowel Syndrome |
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Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
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 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Proprotein Convertase 1/3 Deficiency |
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Villous atrophy, Malabsorption |
OMIM:600955 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
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 |
Chylomicron Retention Disease |
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Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Autoinflammation With Infantile Enterocolitis |
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Villous atrophy, Enterocolitis |
OMIM:616050 |
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 |
Congenital Disorder Of Glycosylation, Type Id |
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Villous atrophy, High palate, Bifid uvula |
OMIM:601110 |
Trichohepatoenteric Syndrome 2 |
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Villous atrophy, Colitis |
OMIM:614602 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Duodenal Ulcer, Hyperpepsinogenemic I |
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Duodenal ulcer |
OMIM:126850 |
Intussusception |
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Intussusception |
OMIM:147710 |
Netherton Syndrome |
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Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Bare Lymphocyte Syndrome, Type Ii |
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Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Primary Intestinal Lymphangiectasia |
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Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... |
ORPHA:90362 |
Immunodeficiency 85 And Autoimmunity |
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Villous atrophy |
OMIM:619510 |
Vascular Hyalinosis |
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Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Villous atrophy, Ileus |
OMIM:304790 |
Alpha-Heavy Chain Disease |
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Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Inflammation of the large intestine, Atrophic gastritis, Colitis, Villous atrophy |
OMIM:614700 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Osteootohepatoenteric Syndrome |
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Ileoileal intussusception, Villous atrophy, Increased intestinal transit time |
OMIM:619377 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Villous atrophy |
OMIM:606367 |
Congenital Disorder Of Glycosylation, Type Ia |
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Villous atrophy, Steatorrhea |
OMIM:212065 |
Immunodeficiency 31C |
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Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Pearson Marrow-Pancreas Syndrome |
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Villous atrophy, Malabsorption, Steatorrhea |
OMIM:557000 |
Syndromic Diarrhea |
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Hepatoblastoma, Villous atrophy, Colitis, Gastritis |
ORPHA:84064 |
Alg9-Cdg |
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Villous atrophy, Gastroesophageal reflux, Bifid uvula |
ORPHA:79328 |
Trichohepatoenteric Syndrome 1 |
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Villous atrophy, Bifid uvula |
OMIM:222470 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Esophageal carcinoma, Abnormal intestine morphology, Enterocolitis |
ORPHA:391487 |
Parenteral Nutrition-Associated Cholestasis |
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Villous atrophy |
ORPHA:567983 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |