Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... |
OMIM:619445 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology |
OMIM:251850 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea, Arthritis |
OMIM:613217 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic |
OMIM:615863 |
Lactose Intolerance, Adult Type |
|
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Immunodeficiency 31C |
|
Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morphology |
OMIM:614162 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis |
OMIM:614328 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Enterocolitis, Abdominal pain, Diarrhea, Increased level of L-pyroglutamic acid in ur... |
OMIM:260005 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea |
OMIM:614602 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Diarrhea |
OMIM:600955 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Episodic vomiting, Feeding difficulties in infancy, Villous atrophy, Se... |
OMIM:616050 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Villous atrophy, Protracted diarrhea, Chronic mucocutane... |
OMIM:209920 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... |
OMIM:615237 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine |
OMIM:615767 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy |
OMIM:602579 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Tube feeding, Eczema, Vomiting, Villous atrophy, Chronic diarrhea, Erythroderma |
OMIM:619510 |
Netherton Syndrome |
|
Intestinal atresia, Allergic rhinitis, Villous atrophy, Erythroderma, Abnormal intestine morphology |
OMIM:256500 |
Refractory Celiac Disease |
|
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Villous atrophy, Protein-los... |
ORPHA:398063 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... |
ORPHA:411696 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent otitis media, Colitis, Conjunctivitis, Inflammation of the large intest... |
OMIM:614700 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chronic diarrhea, Eryth... |
OMIM:304790 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... |
ORPHA:2198 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer |
OMIM:613244 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Chronic diarrhea, Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin... |
ORPHA:90362 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne |
ORPHA:69126 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... |
ORPHA:2070 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Thyroiditis, Chronic oral candidiasis, Eczema, Villous atrophy, Chronic diarrhea, Erythroderma, P... |
OMIM:606367 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis |
OMIM:618394 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Arthritis, Villous atrophy, Hep... |
OMIM:619381 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormality of the small intestine, Abdominal pain |
ORPHA:100025 |
Osteootohepatoenteric Syndrome |
|
Abdominal pain, Episodic vomiting, Ileoileal intussusception, Villous atrophy, Secretory diarrhea... |
OMIM:619377 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Eczema, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Arthritis, ... |
OMIM:616100 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Chronic diarrhea |
OMIM:619858 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Abdominal pain, Maculopapular ex... |
ORPHA:39812 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Esophageal carcinoma, Vill... |
ORPHA:391487 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... |
OMIM:300048 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Diarrhea, Vomiting, Feeding difficulties in infancy, Villous atrophy, Pericarditis |
OMIM:212065 |
Pearson Marrow-Pancreas Syndrome |
|
Malabsorption, Exocrine pancreatic insufficiency, Hepatic failure, Steatorrhea, Anorexia, Vomitin... |
OMIM:557000 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia... |
OMIM:618935 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis,... |
OMIM:175500 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... |
OMIM:618108 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... |
ORPHA:84064 |
Selective Igm Deficiency |
|
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... |
ORPHA:331235 |
Visceral Myopathy 1 |
|
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Dysphagia, ... |
OMIM:155310 |
Mungan Syndrome |
|
Abdominal pain, Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, ... |
OMIM:611376 |
Immunodeficiency 87 And Autoimmunity |
|
Increased fecal calprotectin level, Cleft palate, Hepatic failure, Necrotizing enterocolitis, Fee... |
OMIM:619573 |
Mpi-Cdg |
|
Decreased liver function, Diarrhea, Vomiting, Protein-losing enteropathy, Gastrointestinal hemorr... |
ORPHA:79319 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... |
ORPHA:71272 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Crohn's disease |
OMIM:619705 |
Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
Alg9-Cdg |
|
Gastroesophageal reflux, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
ORPHA:79328 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Decreased liver function, Protein-losing enteropathy, ... |
ORPHA:79327 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Elevated circulating creatini... |
OMIM:608104 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Abdominal pain, Hepatic failure |
ORPHA:567983 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Intractable diarrhea, Bifid uvula, Hepatic failure |
OMIM:222470 |
Scleroderma |
|
Keratitis, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett eso... |
ORPHA:801 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Familial Mediterranean Fever |
|
Crohn's disease, Episodic abdominal pain, Orchitis, Abdominal pain, Peritonitis, Diarrhea, Vomiti... |
OMIM:249100 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Ost... |
ORPHA:90291 |
Immunodeficiency 58 |
|
Bronchiectasis, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pylori... |
OMIM:618131 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Primary Biliary Cholangitis |
|
Abdominal distention, Hepatic failure, Hepatocellular carcinoma, Hepatitis, Celiac disease, Gastr... |
ORPHA:186 |
Alg6-Cdg |
|
Feeding difficulties, Protein-losing enteropathy, Macroglossia |
ORPHA:79320 |
Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Endocarditis, Pneumonia, Pericarditis, Art... |
ORPHA:449280 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Sapho Syndrome |
|
Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... |
ORPHA:793 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Fat malabsorption, Hepatic failure |
OMIM:214950 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Crohn's disease |
OMIM:619632 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Abdominal pain, Skin rash, Diarrhea, Inflammation of the large intest... |
OMIM:301074 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Small bowel diverticula, Colonic diverticula |
OMIM:223330 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties, Gastroesophageal reflux, Esophagitis |
ORPHA:79350 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... |
OMIM:106300 |
Chylomicron Retention Disease |
|
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption |
ORPHA:71 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Viral hepatitis, Unusual gastrointe... |
ORPHA:48435 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatic failure, Steatorrhea, Diarrhea, Fat malabsorption |
OMIM:607765 |
Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Chronic diarrhea, Esophagitis, Pneumonia, Cholangitis |
OMIM:619652 |
Zygomycosis |
|
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Hiatus hernia, Esophagitis |
ORPHA:3197 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Harrod Syndrome |
|
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Aganglionic megac... |
OMIM:601095 |
Whim Syndrome |
|
Sinusitis, Otitis media, Lymphadenitis, Severe periodontitis, Abnormality of the small intestine,... |
ORPHA:51636 |
Esophageal Atresia |
|
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... |
ORPHA:1199 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Keratitis, Inflammatory abnormality of the skin, Abdominal distention, Conjunctivitis, Skin rash,... |
ORPHA:95455 |
Pgm3-Cdg |
|
High palate, Osteomyelitis, Gastroesophageal reflux, Recurrent skin infections, Eczema, Membranop... |
ORPHA:443811 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent pneumonia, Esophagitis, Pneumonia |
ORPHA:3348 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea, Fat malabsorption |
OMIM:211600 |
Cat Eye Syndrome |
|
Anal atresia, Rectal fistula, Cleft palate, Intestinal malrotation, Volvulus, Anal stenosis, Rect... |
OMIM:115470 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Intussusception, Stomach cancer, Abdominal pain, Intestinal polyp, Ne... |
ORPHA:2929 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Intestinal malrotatio... |
ORPHA:2538 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Recurrent skin infections, Glomerulonephritis, Malnutrition, Esophageal ... |
ORPHA:79408 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract |
ORPHA:2847 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Constipation, Pyoderma, Recurrent skin infections, Vomiting, Esophageal stricture, Malnutrition, ... |
ORPHA:79404 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hepatic failure |
ORPHA:79302 |
Zollinger-Ellison Syndrome |
|
Episodic abdominal pain, Diarrhea, Duodenal ulcer, Hematochezia, Intestinal obstruction, Peptic u... |
ORPHA:913 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Intussusception, Feeding difficulties, Abnormal duodenum morphology,... |
ORPHA:512 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Abdominal distention, Cleft palate, Hepatic failure, Protein-losing enteropathy |
OMIM:235255 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... |
ORPHA:2908 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Erysipelas, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia |
OMIM:235510 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:99413 |
Turner Syndrome |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:881 |
Mosaic Monosomy X |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:99228 |
Monosomy X |
|
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... |
ORPHA:99226 |
Localized Scleroderma |
|
Gastroesophageal reflux, Arthritis, Uveitis, Fasciitis, Hashimoto thyroiditis, Esophagitis |
ORPHA:90289 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Macroglossia |
OMIM:618440 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Hiatus hernia, Esophagitis |
ORPHA:1901 |
Diamond-Blackfan Anemia 7 |
|
Esophagitis, Cleft palate, Recurrent otitis media |
OMIM:612562 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Abdominal distention, Protein-losing enteropathy, Hepatic failure |
ORPHA:1655 |
Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Peptic ulcer, Zollinger-Ellison syndrome, Esophagitis |
OMIM:131100 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Secretory diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:618183 |
Congenital Tracheal Stenosis |
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Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Feeding difficulties, Esophagitis, Hepatic failure |
ORPHA:541423 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Constipation, Gastroesophageal reflux, High, narrow palate, Vomiting, Feeding difficulties in inf... |
ORPHA:96182 |
Storm Syndrome |
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Fat malabsorption |
OMIM:185069 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Hepatoblastoma, Feeding difficulties, Esophageal varix, Fat malabsorption, Pr... |
ORPHA:731 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoesophageal fistula, ... |
OMIM:265380 |
Tarp Syndrome |
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Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Cleft palate |
ORPHA:2886 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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High palate, Hiatus hernia, Constipation, Cleft palate, Recurrent skin infections, Intestinal mal... |
OMIM:601776 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Exocrine pancreatic insufficiency, Recurrent otitis media, Abdominal distentio... |
OMIM:619991 |
Occipital Horn Syndrome |
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Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Poor suck, Hepatitis, Esophagitis, A... |
ORPHA:198 |
Multiple Endocrine Neoplasia Type 4 |
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Episodic abdominal pain, Diarrhea, Peptic ulcer, Esophagitis, Zollinger-Ellison syndrome |
ORPHA:276152 |
Fraser Syndrome 1 |
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Abnormality of the small intestine, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Rheumatoid Arthritis |
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Rheumatoid arthritis |
OMIM:180300 |