Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Diarrhea 9 |
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Villous atrophy |
OMIM:618168 |
Diarrhea 11, Malabsorptive, Congenital |
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Villous atrophy |
OMIM:618662 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Lactose Intolerance, Adult Type |
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Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Meckel Diverticulum |
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Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
Secondary Short Bowel Syndrome |
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Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... |
ORPHA:95427 |
Aganglionosis, Total Intestinal |
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Total intestinal aganglionosis |
OMIM:202550 |
Congenital Tufting Enteropathy |
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Optic disc coloboma, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small... |
ORPHA:92050 |
Congenital Disorder Of Glycosylation, Type Id |
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Bifid uvula, Joint contracture of the hand, Optic atrophy, Villous atrophy, High palate, Flexion ... |
OMIM:601110 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Hirschsprung Disease, Susceptibility To, 3 |
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Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon |
OMIM:613711 |
Lactase Deficiency, Congenital |
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Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Chylomicron Retention Disease |
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Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes |
OMIM:246700 |
Autoinflammation With Infantile Enterocolitis |
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Villous atrophy, Enterocolitis |
OMIM:616050 |
Hirschsprung Disease, Susceptibility To, 1 |
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Aganglionic megacolon, Abnormal enteric ganglion morphology, Enterocolitis |
OMIM:142623 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
Congenital Disorder Of Glycosylation, Type Ib |
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Steatorrhea, Protein-losing enteropathy, Villous atrophy |
OMIM:602579 |
Trichohepatoenteric Syndrome 2 |
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Colitis, Villous atrophy |
OMIM:614602 |
Proprotein Convertase 1/3 Deficiency |
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Villous atrophy |
OMIM:600955 |
Visceral Myopathy 2 |
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Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Netherton Syndrome |
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Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia |
OMIM:256500 |
Refractory Celiac Disease |
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Protein-losing enteropathy, Villous atrophy, Jejunitis |
ORPHA:398063 |
Primary Intestinal Lymphangiectasia |
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Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Functional abnorma... |
ORPHA:90362 |
Congenital Disorder Of Glycosylation, Type Il |
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Villous atrophy |
OMIM:608776 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Villous atrophy, Ileus |
OMIM:304790 |
Mhc Class Ii Deficiency 1 |
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Colitis, Villous atrophy |
OMIM:209920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Colitis, Inflammation of the large intestine, Villous atrophy |
OMIM:614700 |
Congenital Short Bowel Syndrome |
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Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... |
OMIM:615237 |
Mungan Syndrome |
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Barrett esophagus, Intestinal pseudo-obstruction, Abnormality of the autonomic nervous system, Me... |
OMIM:611376 |
Osteootohepatoenteric Syndrome |
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Increased intestinal transit time, Villous atrophy, Ileoileal intussusception |
OMIM:619377 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Skeletal muscle atrophy, Villous atrophy, Gastrointestinal eosinophil... |
OMIM:614162 |
Congenital Disorder Of Glycosylation, Type Ia |
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Steatorrhea, Flexion contracture, Villous atrophy |
OMIM:212065 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy |
OMIM:606367 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Protein-losing enteropathy |
OMIM:619063 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology |
ORPHA:100025 |
Trichohepatoenteric Syndrome 1 |
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Large placenta, Bifid uvula, Villous atrophy |
OMIM:222470 |
Alg9-Cdg |
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Bifid uvula, Hypoplasia of the musculature, Gastroesophageal reflux, Villous atrophy, Torticollis |
ORPHA:79328 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Villous atrophy, Perianal dermatitis, Increased fecal calprotectin level, Nec... |
OMIM:619573 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... |
OMIM:300048 |
Syndromic Diarrhea |
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Colitis, Hepatoblastoma, Villous atrophy, Gastritis |
ORPHA:84064 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Abnormal intestine morphology, Esophageal carcinoma, Villous atrophy, Enterocolitis |
ORPHA:391487 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Pearson Marrow-Pancreas Syndrome |
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Steatorrhea, Villous atrophy |
OMIM:557000 |
Parenteral Nutrition-Associated Cholestasis |
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Villous atrophy |
ORPHA:567983 |
Visceral Myopathy 1 |
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Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
Immunodeficiency 82 With Systemic Inflammation |
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Anoperineal fistula, Villous atrophy, Crohn's disease, Gastritis, Colitis, Duodenal ulcer |
OMIM:619381 |
Eosinophilic Gastroenteritis |
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Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... |
ORPHA:2070 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... |
OMIM:175500 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Protein-losing enteropathy |
OMIM:618154 |
Systemic Sclerosis |
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Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Juvenile Polyposis Of Infancy |
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High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal duodenum morphology, N... |
ORPHA:512 |
Juvenile Polyposis Syndrome |
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Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... |
ORPHA:2929 |
Whim Syndrome |
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Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Fraser Syndrome 1 |
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Abnormal cortical gyration, Myelomeningocele, Abnormal small intestine morphology, Encephalocele,... |
OMIM:219000 |
Lacrimal Duct Defect |
|
|
OMIM:149700 |