Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Ficolin 3 Deficiency |
|
Verrucae, Necrotizing enterocolitis |
OMIM:613860 |
Immunodeficiency 70 |
|
Verrucae, Decreased circulating total IgG, Recurrent sinusitis, Colitis, Achalasia, Furuncle, Dec... |
OMIM:618969 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... |
OMIM:619281 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Mucoid diarrhea, Increased ... |
OMIM:615767 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent skin infections, Erythema... |
OMIM:300635 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... |
OMIM:618394 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... |
OMIM:618108 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Decreased circulating antibody level, Abnormal natural killer cell physiology, Recurrent... |
OMIM:613101 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased circulating t... |
OMIM:614878 |
Immunodeficiency 76 |
|
Colitis, B-cell lymphoma, Chronic diarrhea, Recurrent pneumonia |
OMIM:619164 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level, Colitis, Esophageal stenosis |
OMIM:615190 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... |
ORPHA:436159 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... |
ORPHA:98813 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinemi... |
OMIM:209920 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... |
OMIM:614700 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... |
OMIM:243150 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Eczematoid dermatitis, Cutaneou... |
OMIM:618131 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Autoinflammation With Infantile Enterocolitis |
|
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... |
OMIM:616050 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... |
OMIM:616433 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... |
ORPHA:26790 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne |
OMIM:604416 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... |
ORPHA:95427 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Sclerosing cho... |
ORPHA:2137 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Thymoma |
|
Rheumatoid arthritis, Ulcerative colitis, Neoplasm of head and neck, Neoplasm of the thyroid glan... |
ORPHA:99867 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Decreas... |
OMIM:619802 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties |
OMIM:616809 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea |
OMIM:614602 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Impaired oxidative burst... |
OMIM:618935 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... |
ORPHA:555905 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Lymphoma, Recurrent infection of the... |
ORPHA:911 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Inflammation of the large intestine, Oral leukoplakia, Pancolitis, E... |
OMIM:620133 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Increased circulating IgE level, Increased circulating antibody level, Hodg... |
ORPHA:3261 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... |
OMIM:619381 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Skin rash, Maculopapular exanthema, Infectious encephalitis, Erythroder... |
ORPHA:540 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... |
OMIM:301074 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Anoperineal fistula, Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eo... |
OMIM:618213 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Enterocolitis |
OMIM:301108 |
Shigellosis |
|
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... |
ORPHA:810 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Abdominal pain, E... |
ORPHA:73263 |
Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... |
ORPHA:793 |
Cyclic Neutropenia |
|
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... |
ORPHA:2686 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Decreased specific anti-polysaccharide antibody le... |
OMIM:301000 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... |
OMIM:614576 |
Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... |
ORPHA:67 |
Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Neoplasm, Predominantly dermal neutrophilic in... |
ORPHA:3243 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia |
OMIM:203300 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth... |
ORPHA:2908 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis |
OMIM:301220 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Peritonitis, Pancreatitis, Abdominal pain, Co... |
ORPHA:90038 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Diarrhea, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell ad... |
OMIM:131100 |
Syndromic Diarrhea |
|
Intractable diarrhea, Panhypogammaglobulinemia, Villous atrophy, Hepatoblastoma, Gastritis, Depen... |
ORPHA:84064 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Acute leukemia, Inflammation of the large intestine, Blepharitis, Eczematoid dermat... |
ORPHA:906 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting |
OMIM:201475 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... |
ORPHA:309031 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... |
ORPHA:391487 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Abdominal distention, Eczematoid dermatitis, Vomiting, Myel... |
ORPHA:3260 |
Primary Sclerosing Cholangitis |
|
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failure, Polyclonal el... |
ORPHA:171 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
Sepsis In Premature Infants |
|
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... |
ORPHA:90051 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... |
OMIM:617718 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Diarrhea, Conjunctivitis, Parotitis, Decreased circulating IgA level, Abnormal... |
OMIM:620376 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, N... |
ORPHA:544482 |
Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... |
ORPHA:29207 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... |
OMIM:615895 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... |
ORPHA:707 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... |
ORPHA:79259 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... |
OMIM:619708 |
Cocaine Intoxication |
|
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... |
ORPHA:90068 |
Fumarase Deficiency |
|
Hepatic failure, High palate, Cutaneous leiomyoma, Necrotizing enterocolitis |
OMIM:606812 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... |
OMIM:181000 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... |
OMIM:232220 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... |
OMIM:232240 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... |
OMIM:619573 |
Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... |
OMIM:617137 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Inflammation of the large intestine, Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... |
ORPHA:99413 |
Turner Syndrome |
|
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... |
ORPHA:881 |
Mosaic Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... |
ORPHA:99228 |
Monosomy X |
|
High, narrow palate, Inflammation of the large intestine, Celiac disease, Recurrent otitis media,... |
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 |