Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 20 |
|
Severe varicella zoster infection, BCGitis, Recurrent otitis media, Recurrent viral upper respira... |
OMIM:615707 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Secretory IgA deficiency |
OMIM:269650 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation |
OMIM:614493 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob... |
OMIM:300400 |
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 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas... |
OMIM:137100 |
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, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Recurrent ... |
OMIM:619281 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Immunodeficiency 81 |
|
Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced natural ki... |
OMIM:619374 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... |
OMIM:609529 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections... |
OMIM:613495 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunodeficiency 11A |
|
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... |
OMIM:615206 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... |
OMIM:300291 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Abnormal natu... |
OMIM:613101 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Anticardiolipin IgG antibody positivity, Recurrent upper respiratory tract infections, Recurrent ... |
OMIM:615559 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... |
OMIM:607271 |
Reticular Dysgenesis |
|
Sepsis, Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... |
OMIM:300853 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Infectious encephalitis, D... |
OMIM:308240 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... |
OMIM:617638 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... |
OMIM:613494 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Immunodeficiency 18 |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... |
OMIM:615615 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:240500 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Colitis |
OMIM:617006 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent otitis m... |
OMIM:618944 |
C1Q Deficiency 1 |
|
Recurrent infections, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections |
OMIM:607624 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... |
OMIM:300635 |
Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... |
OMIM:607594 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:70578 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... |
ORPHA:275 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Meningitis |
OMIM:616050 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:540 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... |
ORPHA:26790 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lack of T cell function, Incre... |
ORPHA:277 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating cytokine concentr... |
ORPHA:178320 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Partial absence ... |
OMIM:620430 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating... |
ORPHA:411593 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... |
OMIM:610163 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti... |
OMIM:619774 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Immunodeficiency 70 |
|
Recurrent sinusitis, Colitis, Achalasia, Celiac disease, Furuncle |
OMIM:618969 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... |
ORPHA:169079 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle... |
ORPHA:319552 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne |
OMIM:604416 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Impaired Ig class switch recombination, Bronchiectasis |
OMIM:608184 |
Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, I... |
ORPHA:158061 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... |
OMIM:618108 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... |
OMIM:617241 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Autoimmunity, Increased circulating antibody level, Recurrent i... |
OMIM:614470 |
Immunodeficiency 60 And Autoimmunity |
|
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis |
OMIM:618394 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g... |
OMIM:308230 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... |
ORPHA:95427 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic an... |
OMIM:618495 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Chronic mu... |
ORPHA:572 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Decreased circulating IgG level, Chronic mucocutaneous candid... |
ORPHA:98813 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Wiskott-Aldrich Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased specific anti-polysa... |
OMIM:301000 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Invasive... |
ORPHA:83471 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent otitis media, Impaired ADP-induced platelet aggregation, Recurrent... |
OMIM:608233 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Increased circulating interleukin 6 concentration, Antinuclear antibody positivity, Increased cir... |
OMIM:620514 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis |
OMIM:614878 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea |
OMIM:614602 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferatio... |
OMIM:600802 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:331206 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Panniculitis, Complete or near-comple... |
OMIM:301081 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... |
OMIM:243150 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... |
OMIM:616433 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties |
OMIM:616809 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... |
ORPHA:35078 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... |
OMIM:301074 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... |
OMIM:614700 |
Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration |
OMIM:615010 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... |
ORPHA:85410 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... |
ORPHA:436159 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Reduced natural killer cell activity, Meningitis, Infectious encephalitis |
OMIM:603553 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent pneumonia, Recurrent viral infections, Reduced delayed hypersensitivity, Pyoderma, Recu... |
OMIM:242700 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent otitis media, Increased circul... |
OMIM:243700 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Sclerosing cholangitis, Glomeru... |
ORPHA:2137 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid factor positive |
ORPHA:85435 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Recurrent infection of the gastroint... |
ORPHA:911 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... |
ORPHA:79124 |
Shigellosis |
|
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Acut... |
ORPHA:810 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
Selective Igm Deficiency |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent bronchitis, Autoimmune thrombocytop... |
ORPHA:331235 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:616005 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis |
OMIM:620133 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule |
ORPHA:48104 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Recurrent infections, Increased circulating inter... |
ORPHA:3243 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:615758 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ... |
OMIM:613179 |
Cyclic Neutropenia |
|
Periodontitis, Otitis media, Peritonitis, Enterocolitis, Perianal abscess, Sinusitis, Abdominal p... |
ORPHA:2686 |
Interstitial Cystitis |
|
Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:37202 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... |
OMIM:618935 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Autoimmunity,... |
OMIM:615952 |
Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... |
ORPHA:67 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... |
ORPHA:73263 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Colitis, Enterocolitis, Abdominal pain, ... |
OMIM:619802 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Recurrent upper respiratory tract infections, Rec... |
ORPHA:183675 |
Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... |
ORPHA:793 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic ... |
ORPHA:231154 |
Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia |
OMIM:203300 |
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 |
Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... |
ORPHA:3261 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis |
OMIM:301108 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis |
ORPHA:555905 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... |
OMIM:619381 |
New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Autoimmunity |
ORPHA:363558 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Decreased T cell activation, Defective T cell proliferation, Can... |
OMIM:618213 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... |
ORPHA:309031 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Impaired T cell function |
ORPHA:30 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting |
OMIM:201475 |
Hyperlipoproteinemia, Type Id |
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Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Congenital Disorder Of Glycosylation, Type Iil |
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Recurrent infections, Decreased specific anti-polysaccharide antibody level, Impaired T cell func... |
OMIM:614576 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... |
OMIM:617718 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:542323 |
Kindler Epidermolysis Bullosa |
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Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... |
ORPHA:2908 |
Reactive Arthritis |
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Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... |
ORPHA:29207 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:603909 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased T cell activation, Recurrent upper respiratory tract infections |
ORPHA:66628 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased T cell activation, Recurrent upper respiratory tract infections |
ORPHA:179494 |
Sepsis In Premature Infants |
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Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... |
ORPHA:90051 |
Infection-Related Hemolytic Uremic Syndrome |
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Pneumonia, Diarrhea, Vomiting, Secretory diarrhea, Acute colitis, Gastrointestinal infarctions, N... |
ORPHA:544482 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recurrent Asperg... |
ORPHA:391487 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythrod... |
OMIM:615895 |
Plague |
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Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... |
ORPHA:707 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Vomiting, Eczematoid dermatitis, Chronic hepatitis, Malabso... |
ORPHA:3260 |
Thymoma |
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Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Neoplasm of the gastroint... |
ORPHA:99867 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... |
OMIM:619708 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Inflammation of the large intestine, Diarrhea, Periodontitis, Gout, Enterocolitis, Pancreatitis, ... |
ORPHA:79259 |
Cocaine Intoxication |
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Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... |
ORPHA:90068 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
Syndromic Diarrhea |
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Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on intravenous nutri... |
ORPHA:84064 |
Congenital Factor Xiii Deficiency |
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Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Schimke Immuno-Osseous Dysplasia |
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Abnormal lymphocyte physiology, Bone marrow hypocellularity, Recurrent infections, Impaired T cel... |
ORPHA:1830 |
Primary Sclerosing Cholangitis |
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Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failure, Pancreatitis,... |
ORPHA:171 |
Orotic Aciduria |
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Impaired T cell function |
OMIM:258900 |
Vici Syndrome |
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Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... |
OMIM:242840 |
Aregenerative Anemia |
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Bone marrow hypocellularity, Abnormal circulating interleukin concentration |
ORPHA:101096 |
Wiskott-Aldrich Syndrome |
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Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... |
ORPHA:906 |
Glycogen Storage Disease Ib |
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Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Hepatocellular carc... |
OMIM:232220 |
Intrahepatic Cholestasis Of Pregnancy |
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Abnormal circulating interleukin concentration |
ORPHA:69665 |
Glycogen Storage Disease Ic |
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Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... |
OMIM:232240 |
Autoinflammatory Disease, Systemic, With Vasculitis |
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Atopic dermatitis, Diarrhea, Parotitis, Colitis, Arthritis, Conjunctivitis, Abdominal pain, Epidi... |
OMIM:620376 |
Fumarase Deficiency |
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Hepatic failure, High palate, Necrotizing enterocolitis |
OMIM:606812 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Hepatic failure, Secretory diarrhea, Feeding difficulties, Villous atrophy, P... |
OMIM:619573 |
Velocardiofacial Syndrome |
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Recurrent infections, Impaired T cell function |
OMIM:192430 |
Frontometaphyseal Dysplasia 2 |
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Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... |
OMIM:617137 |
Progeroid Short Stature With Pigmented Nevi |
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Recurrent viral infections, Impaired T cell function |
OMIM:176690 |
Sarcoidosis, Susceptibility To, 1 |
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Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99413 |
Turner Syndrome |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:881 |
Mosaic Monosomy X |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99228 |
Monosomy X |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99226 |
Bardet-Biedl Syndrome |
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Inflammation of the large intestine, Otitis media, Aganglionic megacolon, Rhinitis, Abnormality o... |
ORPHA:110 |
Chronic Thromboembolic Pulmonary Hypertension |
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Osteomyelitis, Inflammation of the large intestine |
ORPHA:70591 |
Mowat-Wilson Syndrome |
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Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... |
ORPHA:2152 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Digeorge Syndrome |
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Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Recurrent sinusitis, Recur... |
OMIM:188400 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function |
ORPHA:567 |