| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... |
OMIM:619079 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| 5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
| Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
| Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... |
OMIM:617638 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... |
OMIM:300635 |
| Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... |
ORPHA:26790 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
| Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
| Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
| Immunodeficiency 70 |
|
Celiac disease, Recurrent sinusitis, Achalasia, Colitis, Furuncle |
OMIM:618969 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne |
OMIM:604416 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... |
OMIM:619281 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
| Secondary Short Bowel Syndrome |
|
Vomiting, Diarrhea, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... |
ORPHA:95427 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... |
OMIM:618108 |
| Immunodeficiency 60 And Autoimmunity |
|
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis |
OMIM:618394 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology |
ORPHA:2978 |
| Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea |
OMIM:614602 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Inflammation of the large intestine, Oral leukoplakia, Pancolitis, Chromosomal breakage induced b... |
OMIM:620133 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Psoriasif... |
OMIM:243150 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis |
OMIM:614878 |
| Autoinflammation With Infantile Enterocolitis |
|
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... |
OMIM:616050 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... |
OMIM:616433 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties |
OMIM:616809 |
| Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
| Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... |
OMIM:209920 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... |
ORPHA:436159 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... |
OMIM:614700 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... |
OMIM:301074 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
| Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule |
ORPHA:48104 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Recurrent infection of the gastroint... |
ORPHA:911 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Sclerosing cho... |
ORPHA:2137 |
| Shigellosis |
|
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... |
ORPHA:810 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Bloody diarrhea, Protracted diarrhea, Intestinal obstruction, Constrictive pericarditis... |
ORPHA:67 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... |
OMIM:618935 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
| Cyclic Neutropenia |
|
Periodontitis, Otitis media, Perianal abscess, Peritonitis, Enterocolitis, Sinusitis, Abdominal p... |
ORPHA:2686 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis |
OMIM:301108 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Re... |
ORPHA:98813 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Abdominal pain, Enterocolitis, Colitis, ... |
OMIM:619802 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... |
ORPHA:73263 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Vomiting, Diarrhea, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Abdominal pain, ... |
ORPHA:90038 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... |
ORPHA:793 |
| Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapula... |
ORPHA:540 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... |
ORPHA:71272 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting |
OMIM:201475 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Abdomina... |
ORPHA:309031 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... |
OMIM:619381 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Patent ductus arteriosus, Esophageal varix |
OMIM:614576 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... |
OMIM:617718 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... |
ORPHA:2908 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... |
ORPHA:29207 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Anoperineal fistula, Pancolitis, Eosinophilic infiltration of the esophagus, Perianal abscess, Bl... |
OMIM:618213 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... |
ORPHA:391487 |
| Thymoma |
|
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... |
ORPHA:99867 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... |
OMIM:619708 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Vomiting, Diarrhea, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... |
ORPHA:544482 |
| Sepsis In Premature Infants |
|
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... |
ORPHA:90051 |
| Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... |
OMIM:615895 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... |
ORPHA:3243 |
| Plague |
|
Inflammation of the large intestine, Vomiting, Diarrhea, Lymphadenitis, Chapped lip, Skin rash, I... |
ORPHA:707 |
| Syndromic Diarrhea |
|
Intractable diarrhea, Bloody diarrhea, Villous atrophy, Gastritis, Hepatoblastoma, Dependency on ... |
ORPHA:84064 |
| Cocaine Intoxication |
|
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... |
ORPHA:90068 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Vomiting, Abdominal distention, Eczematoid dermatitis, Mala... |
ORPHA:3260 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
| Fumarase Deficiency |
|
Decreased fumarate hydratase activity, High palate, Necrotizing enterocolitis, Hepatic failure |
OMIM:606812 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... |
ORPHA:79259 |
| Primary Sclerosing Cholangitis |
|
Uveitis, Hepatitis, Acute hepatic failure, Abdominal pain, Chronic hepatic failure, Pancreatitis,... |
ORPHA:171 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... |
OMIM:232220 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulone... |
ORPHA:3261 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... |
OMIM:232240 |
| Wiskott-Aldrich Syndrome |
|
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... |
ORPHA:906 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... |
OMIM:619573 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Recurrent pneumonia, Eczematoid dermatitis, Recurr... |
OMIM:301000 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Gastroesophageal reflux, Ulcerative colitis, Feeding difficulties in infancy, High p... |
OMIM:617137 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Diarrhea, Parotitis, Abdominal pain, Arthritis, Conjunctivitis, Colitis, Epidi... |
OMIM:620376 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Iridocyclitis, Arthritis, Anorexia, Abnormal salivary gland ... |
OMIM:181000 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Inflammation of the large intestine |
ORPHA:70591 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99413 |
| Turner Syndrome |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:881 |
| Mosaic Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99228 |
| Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99226 |
| Bardet-Biedl Syndrome |
|
Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... |
ORPHA:110 |
| Mowat-Wilson Syndrome |
|
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... |
ORPHA:2152 |
