Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Chylomicron Retention Disease |
|
Growth delay, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Tumor Predisposition Syndrome 4 |
|
Stomach cancer |
OMIM:609265 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Congenital pyloric atresia |
OMIM:612138 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt... |
ORPHA:1201 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Short stature, Enterocolitis |
OMIM:616050 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Short stature |
ORPHA:391646 |
Trichohepatoenteric Syndrome 2 |
|
Intrauterine growth retardation, Villous atrophy, Colitis |
OMIM:614602 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty |
OMIM:618985 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Immunodeficiency 85 And Autoimmunity |
|
Growth delay, Villous atrophy |
OMIM:619510 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, High palate, Bifid uvula |
OMIM:601110 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Pancreatic Colipase Deficiency |
|
Growth delay, Cholelithiasis, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Short stature, Abnormal stomach morphology |
ORPHA:281090 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Congenital Short Bowel Syndrome |
|
Intestinal hypoplasia, Short stature, Intestinal malrotation |
ORPHA:2301 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus |
OMIM:304790 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Chylous Ascites |
|
Abnormal intestine morphology |
ORPHA:1160 |
Immunodeficiency 31C |
|
Villous atrophy, Short stature, Gastrointestinal eosinophilia, Growth delay, Protein-losing enter... |
OMIM:614162 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Growth delay, Inflammation of the large intestine, Colitis |
OMIM:614700 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Postnatal growth retardation, Pyloric stenosis |
OMIM:617219 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach |
ORPHA:618 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time |
OMIM:619377 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate, Short stature |
ORPHA:314575 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anu... |
OMIM:615710 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Cap Polyposis |
|
Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation |
ORPHA:160148 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis |
OMIM:615190 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis |
OMIM:614262 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Short stature, Hepatocellular carcinoma |
OMIM:601847 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy |
OMIM:606367 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Parenteral Nutrition-Associated Cholestasis |
|
Biliary hyperplasia, Cholelithiasis, Villous atrophy |
ORPHA:567983 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Severe short stature, Congenital pyloric atresia |
ORPHA:2617 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer, Short stature, Delayed puberty |
OMIM:208060 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Muir-Torre Syndrome |
|
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... |
ORPHA:587 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Mednik Syndrome |
|
Abnormal intestine morphology |
ORPHA:171851 |
Serkal Syndrome |
|
Growth delay, Malrotation of small bowel |
ORPHA:139466 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature, Duodenal atresia |
ORPHA:3004 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Short stature, Colitis, Hypoplasia of the thymus, Hepatoblastoma, Int... |
ORPHA:84064 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Esophageal carcinoma, Enterocolitis, Growth delay, Abnormal intes... |
ORPHA:391487 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux |
ORPHA:98892 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Inflammation of the large intestine, Gastritis |
OMIM:618108 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Fg Syndrome 3 |
|
Cryptorchidism, Pyloric stenosis |
OMIM:300406 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Pyloric stenosis, Cleft palate, High... |
ORPHA:96184 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Fat malabsorption, Short stature |
OMIM:211600 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Pancreatic fibrosis, Steatorrhea |
OMIM:557000 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
Irida Syndrome |
|
Abnormal intestine morphology |
ORPHA:209981 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Steatorrhea |
OMIM:212065 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Trisomy 18P |
|
Short stature, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Intrauterine grow... |
ORPHA:1715 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Cryptorchidism, Protein-losing enteropathy, Intrauterine growth retardation |
OMIM:608104 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Pyloric stenosis |
OMIM:616924 |
Trichohepatoenteric Syndrome 1 |
|
Intrauterine growth retardation, Villous atrophy, Short stature, Bifid uvula |
OMIM:222470 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer |
OMIM:608615 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation |
ORPHA:79302 |
Mednik Syndrome |
|
Jejunal atresia, Growth delay, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
Trichothiodystrophy 3, Photosensitive |
|
Short stature, Bilateral cryptorchidism, Pyloric stenosis, Intrauterine growth retardation, Mecke... |
OMIM:616395 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Short stature, Pyloric stenosis |
OMIM:218350 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis |
OMIM:616576 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Chylomicron Retention Disease |
|
Growth delay, Fat malabsorption, Steatorrhea |
ORPHA:71 |
Nephrotic Syndrome, Type 1 |
|
Growth delay, Pyloric stenosis, Gastroesophageal reflux |
OMIM:256300 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Intrauterine growth retardation |
OMIM:616355 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Alg9-Cdg |
|
Villous atrophy, Rhizomelia, Hypoplasia of the ovary, Gastroesophageal reflux, Hypoplastic nipple... |
ORPHA:79328 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis |
ORPHA:79350 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
Oculoskeletodental Syndrome |
|
Macroglossia, Cryptorchidism, Protein-losing enteropathy, Short stature |
OMIM:618440 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Postnatal growth retardation, Midgut malrotation, Cryptorchidism, Pyloric s... |
OMIM:263750 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis |
ORPHA:2575 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Gastric ulcer, Delayed puberty, Malabsorption |
ORPHA:3463 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease |
OMIM:616100 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Intrauterine growth retard... |
ORPHA:2470 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Short stature, High, narrow palate, Rectal prolapse, Adenomatous col... |
ORPHA:79076 |
Immunodeficiency, Common Variable, 10 |
|
Pyloric stenosis, Frequent Giardia lamblia infestation, Decreased response to growth hormone stim... |
OMIM:615577 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption |
ORPHA:379 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... |
ORPHA:210122 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Pyloric stenosis, Dysphagia |
OMIM:619461 |
Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat... |
OMIM:115470 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Hamartomatous polyposis, Ovar... |
OMIM:175200 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Growth delay, Inflammation... |
ORPHA:436159 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, High palate, Pyloric stenosis |
OMIM:310400 |
Marden-Walker Syndrome |
|
Postnatal growth retardation, High, narrow palate, Cryptorchidism, Pyloric stenosis, Cleft palate... |
OMIM:248700 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Autosomal Dominant Centronuclear Myopathy |
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Cryptorchidism, Pyloric stenosis |
ORPHA:169189 |
Griscelli Syndrome |
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Pyloric stenosis, Short stature |
ORPHA:381 |
Lowry-Maclean Syndrome |
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Bilateral cryptorchidism, High, narrow palate, Midgut malrotation, Pyloric stenosis, Cleft palate... |
ORPHA:2409 |
Dextrocardia |
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Pancreatic hypoplasia, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, High palate, Protein-l... |
ORPHA:1655 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... |
ORPHA:247806 |
Tarp Syndrome |
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Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intrauterine growth reta... |
OMIM:311900 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Postnatal growth retardation, Fat malabsorption, Short stature |
ORPHA:96180 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... |
ORPHA:2929 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropathy |
OMIM:235255 |
Ulnar-Mammary Syndrome |
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Short stature, Cryptorchidism, Pyloric stenosis, Ectopic anus, Breast aplasia, Hypoplastic nipple... |
ORPHA:3138 |
Esophageal Atresia |
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Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
Zellweger Syndrome |
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Short stature, Malabsorption, Cryptorchidism, Pyloric stenosis, High palate |
ORPHA:912 |
Gardner Syndrome |
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Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... |
ORPHA:79665 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Cholelithiasis, Atrophic gastritis, Malabsorption |
OMIM:240300 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis |
OMIM:200995 |
Fg Syndrome Type 1 |
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Short stature, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric... |
ORPHA:93932 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Mild postnatal growth retardation, Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing... |
OMIM:235510 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hematochezia, Cryptorchidism, Protein-losing enteropathy |
OMIM:618183 |
Familial Adenomatous Polyposis 1 |
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Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Whim Syndrome |
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Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Cryptorchidism, Pyloric stenosis, Intrauterine growth retardation |
OMIM:614438 |
Williams Syndrome |
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Colonic diverticula, Short stature, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morpholo... |
ORPHA:904 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Perianal abscess, Inflammation of the large intestine, Colitis, Anoperineal fi... |
OMIM:301074 |
Isolated Biliary Atresia |
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Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation, Hypopituitarism |
ORPHA:30391 |
Proximal 16P11.2 Microdeletion Syndrome |
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Pyloric stenosis, Gastroesophageal reflux, Cleft palate |
ORPHA:261197 |
2Q37 Microdeletion Syndrome |
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Pyloric stenosis, Short stature, Supernumerary nipple |
ORPHA:1001 |
Familial Adenomatous Polyposis |
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Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Pituitary aden... |
ORPHA:733 |
Mosaic Trisomy 16 |
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Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum, Intrauter... |
ORPHA:1708 |
Tarp Syndrome |
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Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth ret... |
ORPHA:2886 |
Mixed Connective Tissue Disease |
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Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Gastritis |
ORPHA:809 |
Hardikar Syndrome |
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Short stature, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal... |
OMIM:301068 |
Opitz-Kaveggia Syndrome |
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Anal stenosis, Short stature, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Narrow pa... |
OMIM:305450 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Congenital pyloric atresia |
ORPHA:158684 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Esophageal varix, Growth delay, Azoospermia, Gastric ulcer, Delayed puberty, Cholelithiasis |
ORPHA:2072 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Gastritis, Malabsorption, Ileus, Colitis, Abnormal intestine morphology, Recurrent gastroenteritis |
ORPHA:37042 |
Osteogenesis Imperfecta, Type X |
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Pyloric stenosis, Rhizomelia, Short stature |
OMIM:613848 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Pyloric stenosis, Ileus, Dysphagia |
OMIM:613327 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula |
ORPHA:90349 |
Knobloch Syndrome 2 |
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Pyloric stenosis |
OMIM:618458 |
Coffin-Siris Syndrome 1 |
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Duodenal ulcer, Intestinal malrotation, Short stature, Postnatal growth retardation, Cryptorchidi... |
OMIM:135900 |
Autoimmune Polyendocrinopathy Type 4 |
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Celiac disease, Atrophic gastritis, Xerostomia, Anterior pituitary dysgenesis |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Autoimmune hypoparathyroidism, Celiac disease, Xerostomia, Anterior pituitary... |
ORPHA:227982 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Pancreatic cysts, Esophagea... |
ORPHA:731 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Neonatal dea... |
OMIM:265380 |
Fryns Syndrome |
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Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... |
OMIM:229850 |
Distal 22Q11.2 Microdeletion Syndrome |
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Short stature, High, narrow palate, Pyloric stenosis, Cleft palate, Growth delay, Intrauterine gr... |
ORPHA:261330 |
Musculocontractural Ehlers-Danlos Syndrome |
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Cryptorchidism, Malrotation of small bowel, High palate, Cleft palate |
ORPHA:2953 |
Jacobsen Syndrome |
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Short stature, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Abnormality of the anus,... |
ORPHA:2308 |
Zygomycosis |
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Gastrointestinal hemorrhage, Gastritis, Hematemesis, Enterocolitis, Hematochezia, Melena, Unusual... |
ORPHA:73263 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Short stature, Elevated circulating luteinizing hormone level, Pyloric stenosis, Elevated circula... |
OMIM:618419 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis, Gastroesophageal ... |
ORPHA:464306 |
Knobloch Syndrome |
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Pyloric stenosis |
ORPHA:1571 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Pyloric stenosis, Rectal prolapse, Growth delay, Gastroesophageal reflux, Hypoplasia of the thymus |
OMIM:613177 |
Hennekam Syndrome |
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Pyloric stenosis, Mild postnatal growth retardation, Malabsorption |
ORPHA:2136 |
Distal Deletion 12Q |
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Unilateral cryptorchidism, Short stature, High, narrow palate, Esophageal atresia, Pyloric stenos... |
ORPHA:96149 |
Shwachman-Diamond Syndrome |
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Abnormality of the gastrointestinal tract, Hypopituitarism, Short stature, Decreased response to ... |
ORPHA:811 |
Frontometaphyseal Dysplasia 2 |
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Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesophageal reflux, High... |
OMIM:617137 |
Jacobsen Syndrome |
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Cryptorchidism, Annular pancreas, Pyloric stenosis, Intrauterine growth retardation |
OMIM:147791 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Celiac disease, Chronic gastritis |
ORPHA:183675 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... |
OMIM:601776 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Pyloric stenosis, Aplasia/Hypoplasia of the pancreas |
ORPHA:93111 |
Marden-Walker Syndrome |
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Severe short stature, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Growth delay, ... |
ORPHA:2461 |
Ethylene Glycol Poisoning |
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Gastritis |
ORPHA:31826 |
Fraser Syndrome 1 |
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Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Fanconi Anemia |
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Meckel diverticulum, Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Crypt... |
ORPHA:84 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Postnatal growth retardation, Cryptorchidism, Pyloric stenosis, Biliary hyperplasia, Cleft palate... |
ORPHA:83617 |
Trisomy 8P |
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Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hypoplasia of the gallbladder, ... |
ORPHA:264450 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Anal stenosis, Anterior pituitary hypoplasia, Pyloric stenosis, Hypo... |
OMIM:181450 |
Abetalipoproteinemia |
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Fat malabsorption, Steatorrhea |
ORPHA:14 |
Viss Syndrome |
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Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Autosomal Dominant Cutis Laxa |
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Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90348 |
Carney Complex |
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Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... |
ORPHA:1359 |
Autoimmune Lymphoproliferative Syndrome |
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Colitis, Gastritis, Neoplasm of the tongue, Hepatocellular carcinoma |
ORPHA:3261 |
Wolf-Hirschhorn Syndrome |
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Short stature, Cryptorchidism, Malrotation of small bowel, Cleft palate, Growth delay, Severe pos... |
OMIM:194190 |
Genitopatellar Syndrome |
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Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Ana... |
OMIM:606170 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Biliary hyperplasia, Hydrocele testis, Protein-losing enteropathy, Intrauterin... |
OMIM:619991 |
Microphthalmia, Syndromic 1 |
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Aganglionic megacolon, High, narrow palate, Rectal prolapse, Cryptorchidism, Pyloric stenosis, Gr... |
OMIM:309800 |