Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Masp2 Deficiency |
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Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Diarrhea 8, Secretory Sodium, Congenital |
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Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
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Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... |
OMIM:266600 |
Diverticulosis, Small-Intestinal |
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Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Hyperlipoproteinemia, Type Id |
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Colitis |
OMIM:615947 |
Visceral Myopathy 2 |
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Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Epidermolysis Bullosa Acquisita |
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Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... |
OMIM:300635 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea |
OMIM:615767 |
Pseudomyxoma Peritonei |
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Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... |
ORPHA:26790 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si... |
OMIM:619281 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis |
OMIM:618969 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Acne, Arthritis, Colitis |
OMIM:604416 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Secondary Short Bowel Syndrome |
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Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... |
ORPHA:95427 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis |
OMIM:618394 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Diar... |
OMIM:618108 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Arthritis, Chronic gastritis, Di... |
OMIM:608809 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Esophagitis, Vomiting |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Esophagitis, Vomiting |
OMIM:613412 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... |
ORPHA:411696 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Infectious encephalitis, Villous atrophy, Protracted diarrhea, Malabsorption, Chroni... |
OMIM:209920 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Hepatitis, Villous atrophy, Colitis |
OMIM:614602 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
Autoinflammation With Infantile Enterocolitis |
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Feeding difficulties in infancy, Villous atrophy, Skin rash, Enterocolitis, Secretory diarrhea, E... |
OMIM:616050 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Dysphagia, Helicobacter pylori infection, Recurrent cutaneous abscess ... |
OMIM:618131 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Recurrent otitis... |
OMIM:614700 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... |
ORPHA:2137 |
Shigellosis |
|
Myocarditis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Ulcerative colitis, Vomiting, Pne... |
ORPHA:810 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Chronic ... |
ORPHA:911 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Gastritis, Inflam... |
ORPHA:37042 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... |
ORPHA:324964 |
Cyclic Neutropenia |
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Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis |
OMIM:203300 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Ulcerative colitis, Interstitial pneumonitis |
OMIM:614878 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Crohn's disease, Perianal abscess, Anal fissure, Acute pancreatitis, Recur... |
OMIM:618935 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Protracted diarrhea, Gastrointestinal dysmotility, Ac... |
ORPHA:67 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... |
ORPHA:793 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... |
ORPHA:73263 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... |
ORPHA:90038 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis |
OMIM:301220 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Infectious encephalitis, Erythroderma, Decreased liver function, Maculopapular exanthema, Skin ra... |
ORPHA:540 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... |
ORPHA:309031 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis |
ORPHA:555905 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine |
OMIM:617718 |
Sandifer Syndrome |
|
Feeding difficulties, Esophagitis, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Episodic ... |
ORPHA:71272 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting |
OMIM:201475 |
Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... |
ORPHA:2908 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hepatitis, Gastritis, Crohn's disease, Diarrhea, Abdominal pain, Villous atrophy,... |
OMIM:619381 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix |
OMIM:614576 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... |
ORPHA:29207 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... |
ORPHA:544482 |
Sepsis In Premature Infants |
|
Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Abd... |
ORPHA:90051 |
Thymoma |
|
Myositis, Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Glomerulonephritis, Ulcer... |
ORPHA:99867 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... |
ORPHA:3260 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... |
ORPHA:3243 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... |
ORPHA:391487 |
Cocaine Intoxication |
|
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... |
ORPHA:90068 |
Plague |
|
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... |
ORPHA:707 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Protuberant abdomen, Gout, Hepatoc... |
ORPHA:79259 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... |
ORPHA:562639 |
Syndromic Diarrhea |
|
Bloody diarrhea, Villous atrophy, Intractable diarrhea, Hepatoblastoma, Gastritis, Dependency on ... |
ORPHA:84064 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar... |
ORPHA:3261 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... |
ORPHA:171 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Anoper... |
OMIM:618213 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... |
ORPHA:906 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Otitis media, Diarrhea |
OMIM:600903 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Nephritis, Fulminant hepatitis, Decreased liver... |
ORPHA:2442 |
Wiskott-Aldrich Syndrome |
|
Eczema, Inflammation of the large intestine, Hematemesis, Recurrent otitis media, Melena, Chronic... |
OMIM:301000 |
Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Gastro... |
OMIM:617137 |
Immunodeficiency 87 And Autoimmunity |
|
Cleft palate, Villous atrophy, Feeding difficulties, Increased fecal calprotectin level, Hepatic ... |
OMIM:619573 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... |
OMIM:181000 |
Turner Syndrome |
|
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... |
ORPHA:881 |
Mosaic Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Inflammation of the large intestine, High palate, Celiac disease, Recurrent ... |
ORPHA:99413 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Mowat-Wilson Syndrome |
|
Pyloric stenosis, Dysphagia, Aganglionic megacolon, Cleft palate, Vomiting, Gastrointestinal dysm... |
ORPHA:2152 |