Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Malabsorption, Villous atrophy |
OMIM:600955 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Microvillus Inclusion Disease |
|
Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis |
OMIM:614602 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Autoinflammation With Infantile Enterocolitis |
|
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis |
OMIM:616050 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Vomiting, Intestinal malrotation |
ORPHA:1201 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Vomiting |
OMIM:619510 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Villous atrophy, Colitis, Protracted diarrhea |
OMIM:209920 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Feingold Syndrome Type 2 |
|
Jejunal atresia |
ORPHA:391646 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... |
ORPHA:90362 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Chronic diarrhea, Ileus |
OMIM:304790 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... |
OMIM:619377 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Vo... |
ORPHA:2070 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Chronic diarrhea, Duodenal ulcer, Steatorrhea |
ORPHA:3217 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussuscep... |
OMIM:614162 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colitis |
OMIM:614700 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea |
OMIM:606367 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy |
ORPHA:79327 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Megaduodenum |
OMIM:611376 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Protein-losing enteropathy |
ORPHA:79319 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, Protein-los... |
OMIM:175500 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Duodenal atresia |
OMIM:617784 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Parenteral Nutrition-Associated Cholestasis |
|
Biliary hyperplasia, Cholelithiasis, Villous atrophy |
ORPHA:567983 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Malabsorption, Chronic diarrhea, Vomiting, Steatorrhea, Exo... |
OMIM:557000 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Diarrhea, Vomiting, Steatorrhea |
OMIM:212065 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Fat malabsorption |
OMIM:211600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Acholic stools, Diarrhea, Fat malabsorption, Steatorrhea |
OMIM:607765 |
Feingold Syndrome |
|
Esophageal atresia, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Hypoplasia of the thymus, I... |
ORPHA:84064 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Abnormal intestine morphology |
ORPHA:391487 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Chylomicron Retention Disease |
|
Fat malabsorption, Diarrhea, Vomiting, Steatorrhea |
ORPHA:71 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation |
ORPHA:79302 |
Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Villous atrophy, Bifid uvula |
OMIM:222470 |
Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Diarrhea, Vomiting, Constipa... |
OMIM:155310 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... |
OMIM:619573 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Gastritis, Duodenal ulcer, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... |
OMIM:619381 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Diarrhea, Vomiting, Protein-losing enteropathy |
OMIM:608104 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Alg9-Cdg |
|
Villous atrophy, Diarrhea, Hypoplasia of the ovary, Gastroesophageal reflux, Vomiting, Hypoplasti... |
ORPHA:79328 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Ectopic anus, High p... |
ORPHA:2059 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Gastrointestinal dysmotility, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia |
OMIM:243605 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Diarrhea, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Volvulus, Microcolon |
OMIM:609313 |
Microform Holoprosencephaly |
|
Panhypopituitarism, Cleft palate, Duodenal atresia |
ORPHA:280200 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... |
ORPHA:210122 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy, Cryptorchidism |
OMIM:618440 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... |
ORPHA:512 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
Hypoplasminogenemia |
|
Duodenal ulcer, Abnormality of the ovary |
ORPHA:722 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... |
ORPHA:247806 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis |
ORPHA:2470 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Decreased response to growth hormone stimulation test, Duodenal atresia |
OMIM:603467 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Secretory diarrhea, Protein-losing enteropathy |
OMIM:618183 |
Dextrocardia |
|
Pancreatic hypoplasia, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Duodenal atresia |
OMIM:614114 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... |
ORPHA:79665 |
Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropathy |
OMIM:235255 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Cleft palate, Duodenal atresia |
OMIM:247200 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... |
ORPHA:2929 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Cleft palate, Duodenal atresia |
OMIM:257300 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis |
OMIM:200995 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Fat malabsorption |
ORPHA:96180 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Duodenal atresia |
OMIM:618846 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Pyloric stenosis, Cryptorchidism, Gastroesophageal reflux, Vomitin... |
ORPHA:464306 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cry... |
OMIM:229850 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, High palate, Protein-losing enteropathy |
ORPHA:1655 |
Jacobsen Syndrome |
|
Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus, Ectopic anus, ... |
ORPHA:2308 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Cleft palate, Colon cancer, Stomach cancer, Duodenal atresia |
ORPHA:1052 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cryptorchidism, Posterior pituitary hypoplasia, Gastroesophageal reflux, Vomiting, Duodenal atresia |
ORPHA:464311 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Pituitary aden... |
ORPHA:733 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation, Hypopituitarism |
ORPHA:30391 |
Iniencephaly |
|
Anal atresia, Duodenal atresia |
ORPHA:63259 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum |
OMIM:311900 |
Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Duodenal atresia |
ORPHA:2092 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd... |
ORPHA:652 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Furrowed tongue, High palate, Gastroesophageal reflux, Annular pancreas, Duodenal... |
OMIM:616975 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie... |
OMIM:235510 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Annular pan... |
ORPHA:96149 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer |
OMIM:605822 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, High palate, Constipation |
ORPHA:2953 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cryptorchidism, Duodenal atresia |
ORPHA:468631 |
Tarp Syndrome |
|
Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules |
ORPHA:2886 |
Mosaic Trisomy 16 |
|
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum |
ORPHA:1708 |
Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Duodenal atresia |
OMIM:270100 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Diarrhea, Peritonitis, Enterocolitis, Hemato... |
ORPHA:73263 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Pancreatic cysts, Esophagea... |
ORPHA:731 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Cryptorchidism, Tracheoesophageal fistula, Gastroesophageal... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Constipation, A... |
OMIM:601776 |
Abetalipoproteinemia |
|
Fat malabsorption, Chronic diarrhea, Vomiting, Steatorrhea |
ORPHA:14 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the... |
ORPHA:264450 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Hypopituitarism, Decreased response to growth hormone ... |
ORPHA:811 |
Fraser Syndrome 1 |
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Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Small bowel diverticula |
ORPHA:90349 |
Charge Syndrome |
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Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Esophag... |
OMIM:214800 |
Coffin-Siris Syndrome 1 |
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Duodenal ulcer, Intestinal malrotation, Cryptorchidism, Cleft palate, Gastric ulcer, High palate,... |
OMIM:135900 |
Autosomal Dominant Cutis Laxa |
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Vomiting, Small bowel diverticula |
ORPHA:90348 |
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, Diarrhea, Peritonitis, Hydrocele testis, Vomiting, Protei... |
OMIM:619991 |
Viss Syndrome |
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Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |