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 |
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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 |
Diarrhea 8, Secretory Sodium, Congenital |
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Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine |
OMIM:616868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis |
OMIM:613148 |
Hirschsprung Disease, Susceptibility To, 1 |
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Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... |
OMIM:142623 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
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Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... |
OMIM:612567 |
Cutaneous Photosensitivity And Colitis, Lethal |
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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 |
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Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int... |
OMIM:619079 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
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Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... |
OMIM:266600 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
5-Oxoprolinase Deficiency |
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Diarrhea, Abdominal pain, Enterocolitis, Vomiting |
OMIM:260005 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux |
OMIM:109350 |
Visceral Myopathy 2 |
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Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... |
OMIM:619350 |
Immunodeficiency 11B With Atopic Dermatitis |
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Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... |
OMIM:617638 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis |
OMIM:616098 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Minimal change glomerulonephritis, Colitis |
OMIM:617006 |
Epidermolysis Bullosa Acquisita |
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Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... |
OMIM:300635 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... |
ORPHA:70475 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
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Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re... |
OMIM:613960 |
Pseudomyxoma Peritonei |
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Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... |
ORPHA:26790 |
Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:619164 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine |
OMIM:615767 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Immunodeficiency 70 |
|
Furuncle, Recurrent sinusitis, Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Immunodeficiency 14B, Autosomal Recessive |
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Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... |
OMIM:619281 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Sterile arthritis, Cystic acne, Acne, Colitis |
OMIM:604416 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, Gastritis, Diarrhea, Skin rash, Inflammation of the large intestine, Bronchiect... |
OMIM:618108 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Secondary Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... |
ORPHA:95427 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Crohn's disease, Bronchiectasis, Ulcerative colitis, Colitis |
OMIM:618394 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Ulcerative colitis, Enterocolitis |
OMIM:614878 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis |
OMIM:614602 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Ileal atresia, Intestinal obstruction, Intestinal atresia, Bloody diarrhea, Intestinal malrotatio... |
OMIM:243150 |
Immunodeficiency 40 |
|
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... |
OMIM:616433 |
Autoinflammation With Infantile Enterocolitis |
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Episodic vomiting, Skin rash, Enterocolitis, Secretory diarrhea, Feeding difficulties in infancy,... |
OMIM:616050 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Colitis |
OMIM:613101 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Skin rash, Abdominal pain, Ar... |
OMIM:301074 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Malabsorption, ... |
OMIM:209920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pneumonia, Recurrent otitis media, Villous atrophy, Chronic diarrhea, Thyroiditis, Colitis, Arthr... |
OMIM:614700 |
Immunodeficiency 58 |
|
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Chr... |
OMIM:618131 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Diarrhea, Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis,... |
ORPHA:436159 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... |
OMIM:106300 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Abdominal pain, Fulminant h... |
ORPHA:2137 |
Shigellosis |
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Anorexia, Myocarditis, Acute colitis, Abdominal pain, Arthritis, Intestinal perforation, Bloody d... |
ORPHA:810 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidia... |
ORPHA:911 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Abnormal intestine morphology, Psoriasiform dermatitis, Dependency on intravenous nutrition, Thyr... |
ORPHA:37042 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia |
OMIM:620133 |
Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis |
ORPHA:48104 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Eczematoid de... |
OMIM:618935 |
Cyclic Neutropenia |
|
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Otitis media, Peritoni... |
ORPHA:2686 |
Amoebiasis Due To Entamoeba Histolytica |
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Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Gastrointestina... |
ORPHA:67 |
Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... |
ORPHA:73263 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent otitis media, Diarrhea, Abdominal pain, Eczematoid dermatitis, Enterocolitis, Recurrent... |
OMIM:619802 |
Sapho Syndrome |
|
Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Synovitis, Palmoplantar pust... |
ORPHA:793 |
Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine |
OMIM:203300 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B... |
ORPHA:90038 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:301220 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis |
OMIM:301108 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Pustule, Cutaneous abscess, Ulcerative colitis |
ORPHA:555905 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Maculopapular exanthe... |
ORPHA:540 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Crohn's disease, Skin rash, Bowel irritability, Anorexia, Intractable diarrhea, A... |
OMIM:619381 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, K... |
ORPHA:309031 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Bloody diarrhea, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia... |
OMIM:617718 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Recurrent pancreatitis |
OMIM:615947 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Periodontitis, Abnormality of the anus, Esophagitis, Inflammation of the large intesti... |
ORPHA:2908 |
Reactive Arthritis |
|
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam... |
ORPHA:29207 |
Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... |
ORPHA:90051 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... |
ORPHA:544482 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Thyroiditis, Chronic mucocutaneous candidiasis, Abnormal intestine morphology, Eczemato... |
ORPHA:391487 |
Plague |
|
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia... |
ORPHA:707 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Anoperineal fistula, Pancolitis, Bloody diarrhea, Eosinophilic infiltration of ... |
OMIM:618213 |
Idiopathic Hypereosinophilic Syndrome |
|
Abdominal distention, Pancreatitis, Cholangitis, Chronic diarrhea, Abdominal pain, Arthritis, Ecz... |
ORPHA:3260 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatocellular adenoma, Pancreatitis, Periodontitis, Diarrhea, Thyroiditis, Hepatocellular carcin... |
ORPHA:79259 |
Cocaine Intoxication |
|
Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ... |
ORPHA:90068 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Sclerosing cholangitis, Inflammation of the large intestine, Interface hepatitis, Ulcerative coli... |
ORPHA:562639 |
Syndromic Diarrhea |
|
Intractable diarrhea, Villous atrophy, Gastritis, Bloody diarrhea, Hepatoblastoma, Dependency on ... |
ORPHA:84064 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Recurrent aphthous stomatitis, Panniculitis, Neoplasm of the tongue, Thyroiditis, Hepa... |
ORPHA:3261 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Recurrent otitis media, Melena, Diarrhea, Chronic diarrhea, Eczematoid dermatitis, I... |
OMIM:301000 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Abdominal pain, Arthritis, Parotitis, Atopic dermatitis, Epididymitis, Conjunctivitis, ... |
OMIM:620376 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Recurrent otitis media, Cleft hard palate, Bowel incontinence, Vomiting, S... |
ORPHA:2152 |