Ficolin 3 Deficiency |
|
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... |
OMIM:613860 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... |
OMIM:614372 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Recurrent otitis media, Arthritis, Malabsorption, Recurrent respi... |
OMIM:300310 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Ulcerative colitis |
OMIM:619398 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia |
OMIM:613500 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent infections, Recurrent aphthous stomatitis, Diarrhea, Recurren... |
OMIM:613960 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent respirato... |
OMIM:613501 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent otitis media, ... |
OMIM:612692 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... |
OMIM:619079 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Infectious encephalitis, Villous atrophy, Recurrent ... |
OMIM:209920 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, R... |
OMIM:613502 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent infections, Increas... |
OMIM:300635 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Recurrent bacterial infections, Pneumonia, Bronchiectasis, Recurrent otitis media, Cro... |
OMIM:601495 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia |
OMIM:619437 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... |
OMIM:266600 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia |
ORPHA:88643 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent ba... |
OMIM:605258 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
Hyperlipoproteinemia, Type Id |
|
Colitis |
OMIM:615947 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Recurrent respiratory infections, Inflammation of the large intestine, Mucoid di... |
OMIM:615767 |
Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent bronchiolitis, Colitis, Recurrent pneumonia |
OMIM:619164 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis, Rec... |
ORPHA:275 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent oppo... |
ORPHA:911 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Immunodeficiency 14B, Autosomal Recessive |
|
Inflammation of the large intestine, Candida esophagitis, Chronic diarrhea, Recurrent pneumonia, ... |
OMIM:619281 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Diar... |
ORPHA:83471 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Sterile arthritis, Elevated circulating C-reactive protein concentration, Acne, Arth... |
OMIM:604416 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Feeding difficulties in infancy, Villous atrophy, Increased circulating ferritin... |
OMIM:616050 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis... |
OMIM:608184 |
Secondary Short Bowel Syndrome |
|
Sepsis, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abd... |
ORPHA:95427 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Sinusitis, Recurrent bacterial infections, Rec... |
ORPHA:572 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Colit... |
OMIM:613101 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis |
OMIM:618969 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre... |
OMIM:613493 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Sepsis, Recurrent herpes, Recurrent infections, Recurrent respiratory infections, Al... |
ORPHA:183675 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Recurrent sinopulmonary infections, Chronic diarrhea, Crohn's disease, Colitis, U... |
OMIM:618394 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Dysphagia, Inflammation of the large intestine, Recurrent infections, Chronic gastritis, ... |
OMIM:608809 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Ileal ulcer, Skin rash, Anterior uveitis |
OMIM:616744 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Recu... |
OMIM:618108 |
Selective Igm Deficiency |
|
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Fasciitis... |
ORPHA:331235 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Men... |
OMIM:240500 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... |
ORPHA:26790 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Pneumonia, Bronchiectasis, Recurrent bronchitis, Recurrent otitis... |
OMIM:607594 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis |
OMIM:242850 |
Immunodeficiency 58 |
|
Eczema, Dysphagia, Allergic rhinitis, Helicobacter pylori infection, Recurrent cutaneous abscess ... |
OMIM:618131 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent infections, Ulcerative colitis, Interstitial pneumonitis, Bronchiolitis |
OMIM:614878 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... |
OMIM:307200 |
Immunodeficiency 27B |
|
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis |
OMIM:615978 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... |
ORPHA:2688 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Decreased prealbumin... |
ORPHA:37042 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Recurrent infections, Onychomycosis, Crohn's disease, Perianal abscess, An... |
OMIM:618935 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Recurren... |
OMIM:614700 |
Cyclic Neutropenia |
|
Sinusitis, Sepsis, Peritonitis, Opportunistic infection, Recurrent tonsillitis, Periodontitis, Pe... |
ORPHA:2686 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233710 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Osteomyelitis, Periodontitis, Recurrent staphylococcal infections... |
OMIM:116920 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ... |
ORPHA:276 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Atopic dermatitis, Lactose intolerance, Dysphagia, Feeding difficulties in infancy, Allergic rhin... |
ORPHA:411696 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis |
OMIM:193670 |
Omenn Syndrome |
|
Recurrent bacterial infections, Hypoproteinemia, Erythroderma, Pneumonia, Recurrent fungal infect... |
OMIM:603554 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... |
OMIM:306400 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Intractable diarrhea |
OMIM:609536 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Recurrent fungal infectio... |
OMIM:147060 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Pneumonia, Rec... |
ORPHA:486 |
Trichohepatoenteric Syndrome 2 |
|
Hepatitis, Colitis, Villous atrophy, Diarrhea |
OMIM:614602 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Recurrent viral infections, Colonic eosinophilia, Eosi... |
OMIM:618999 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection |
OMIM:300636 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Severe varicella zoster infectio... |
OMIM:606367 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Elevated circulating C-reactive ... |
ORPHA:48435 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... |
ORPHA:169090 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... |
ORPHA:324964 |
Shigellosis |
|
Myocarditis, Sepsis, Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Anorexia, Vomiting, Pneum... |
ORPHA:810 |
Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Ac... |
ORPHA:67 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Recurrent otitis media, Intractable diarrhea, Recurrent p... |
OMIM:617475 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Recurrent infections |
OMIM:617718 |
Immunodeficiency 36 |
|
Chronic diarrhea, Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis |
OMIM:616005 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Glomerulonephritis, Recurrent respiratory infections |
OMIM:613496 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
Pgm3-Cdg |
|
Lactose intolerance, Eczema, Sepsis, Chronic otitis media, Recurrent infections, Recurrent respir... |
ORPHA:443811 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Inflammation of the large intestine, Esophageal varix, Elevated circu... |
OMIM:614576 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hepatitis, Recurrent infections, Gastritis, Crohn's disease, Diarrhea, Elevated c... |
OMIM:619381 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Fasciitis, Hepatitis, Melena, Gastritis... |
ORPHA:73263 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Infectious encephalitis, Erythroderma, Decreased liver function, Increased circulating ferritin c... |
ORPHA:540 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... |
ORPHA:2137 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Esophagitis, Vomiting |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Esophagitis, Vomiting |
OMIM:613412 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Abnormal intestine morphology, Eczema, Villous atrophy, Inf... |
ORPHA:391487 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Vomiting, Functional abnormality of the ga... |
ORPHA:90051 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis |
OMIM:203300 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Malabsorp... |
ORPHA:793 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis |
OMIM:301220 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Nausea and vomiting, Episcleritis, Arthritis, Meningitis, Uveitis... |
ORPHA:36412 |
Whim Syndrome |
|
Sinusitis, Sepsis, Recurrent bacterial infections, Abnormality of the small intestine, Pneumonia,... |
ORPHA:51636 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Stomatitis, Hepatitis, Recurrent lower respiratory tract ... |
OMIM:308230 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Recurre... |
OMIM:613179 |
Immunodeficiency 23 |
|
Eczema, High palate, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Chroni... |
OMIM:615816 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, Pustule, Myosi... |
ORPHA:3243 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Lymphadenitis, Recurrent fungal infections, Protracted diarrhea, ... |
ORPHA:331206 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections |
OMIM:607676 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P... |
ORPHA:90038 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Elevated circulating creatine kinase concentration, Necrotizing enterocolitis, Gastroesophageal r... |
OMIM:201475 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... |
OMIM:614172 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Recurrent skin infections |
OMIM:612840 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Brain abscess, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomi... |
ORPHA:544482 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Feeding difficulties, Malabsorption, Chronic diarrhea, Steatorrhe... |
ORPHA:2176 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ... |
ORPHA:60033 |
Immunodeficiency 92 |
|
Cholangitis, Pneumonia, BCGosis, Recurrent oral herpes, Esophagitis, Osteomyelitis, Chronic diarr... |
OMIM:619652 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Bloody diarrhea, Severe varicella zoster infection, Eosinophilic infiltration of the esophagus, P... |
OMIM:618213 |
Primary Ciliary Dyskinesia |
|
Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent sinopulmonary infections, Chron... |
ORPHA:244 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Conjunctiv... |
ORPHA:2968 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Chronic diarrhea, Achalasia, Recurrent urinary tract infe... |
OMIM:617053 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Cleft palate, Villous atrophy, Elevated circulating C-rea... |
OMIM:619573 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent u... |
ORPHA:29207 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Recurrent bacterial infections, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Nasogast... |
ORPHA:221139 |
Vici Syndrome |
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Recurrent bacterial infections, Cleft palate, Recurrent fungal infections, Recurrent viral infect... |
OMIM:242840 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... |
ORPHA:309031 |
Wiskott-Aldrich Syndrome |
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Sepsis, Eczema, Inflammation of the large intestine, Recurrent herpes, Recurrent otitis media, Me... |
OMIM:301000 |
Shwachman-Diamond Syndrome |
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Sinusitis, Sepsis, Eczema, Recurrent bacterial infections, Pneumonia, Hypoamylasemia, Recurrent v... |
ORPHA:811 |
Iga Pemphigus |
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Pustule, Ulcerative colitis, Cutaneous abscess, Neutrophilic infiltration of the skin |
ORPHA:555905 |
Kindler Epidermolysis Bullosa |
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Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... |
ORPHA:2908 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Recurrent lower respiratory tr... |
OMIM:600903 |
Hermansky-Pudlak Syndrome 2 |
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Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... |
OMIM:608233 |
Syndromic Diarrhea |
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Bloody diarrhea, Villous atrophy, Recurrent infections, Hepatoblastoma, Intractable diarrhea, Gas... |
ORPHA:84064 |
Cocaine Intoxication |
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Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, El... |
ORPHA:90068 |
Plague |
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Sepsis, Bloody diarrhea, Inflammation of the large intestine, Anorexia, Vomiting, Endocarditis, L... |
ORPHA:707 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Recurrent bacterial infections, Inflammation of the large intestine, Hepatocellular carcinoma, Pr... |
ORPHA:79259 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections |
OMIM:603585 |
Thymoma |
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Myositis, Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Glomerulonephritis, Ulcer... |
ORPHA:99867 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial infections, Hypoproteinemia, Recurrent infections, Periodontitis, Increased c... |
ORPHA:167 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Sinusitis, Recurrent bacterial infections, Pneumonia, Recurrent fungal infections, Recurrent vira... |
OMIM:102700 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Cholangitis, Eczema, Dysphagia, Feeding difficulties in inf... |
ORPHA:3260 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Recurrent bacterial infections, Sepsis, High palate, Cleft palate, Recurrent respiratory infections |
OMIM:612541 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Nephritis, Fulminant hepatitis, Decreased liver... |
ORPHA:2442 |
Primary Sclerosing Cholangitis |
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Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... |
ORPHA:171 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections, Bifid uvula |
OMIM:241410 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, ... |
ORPHA:906 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection |
OMIM:300291 |
Chromomycosis |
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Keratoconjunctivitis sicca, Recurrent bacterial infections, Keratitis |
ORPHA:182 |
Congenital Factor Xiii Deficiency |
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Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... |
ORPHA:562639 |
Autoimmune Lymphoproliferative Syndrome |
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Neoplasm of the tongue, Hepatocellular carcinoma, Glomerulonephritis, Hepatitis, Panniculitis, Ar... |
ORPHA:3261 |
Glycogen Storage Disease Ib |
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Recurrent bacterial infections, Hepatocellular carcinoma, Protuberant abdomen, Gout, Pancreatitis |
OMIM:232220 |
Kenny-Caffey Syndrome, Type 1 |
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Recurrent bacterial infections |
OMIM:244460 |
Mannosidosis, Alpha B, Lysosomal |
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Macroglossia, Recurrent bacterial infections |
OMIM:248500 |
Lysinuric Protein Intolerance |
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Recurrent bacterial infections, Tubulointerstitial nephritis, Vomiting, Membranous nephropathy, F... |
ORPHA:470 |
Chediak-Higashi Syndrome |
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Periodontitis, Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyog... |
OMIM:214500 |
Sickle Cell Anemia |
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Recurrent bacterial infections, Abdominal pain |
OMIM:603903 |
Frontometaphyseal Dysplasia 2 |
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Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Gastro... |
OMIM:617137 |
Immunodeficiency 47 |
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Chronic diarrhea, Exocrine pancreatic insufficiency, Recurrent bacterial infections, Recurrent in... |
OMIM:300972 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent bacterial infections, Eczema, Aganglionic megacolon, Episcleritis, Cheilitis, Feeding d... |
ORPHA:2273 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Elevated circulating C-reactive protein concentration, Osteo... |
ORPHA:70591 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Bronchiectasis... |
OMIM:181000 |
Atrial Septal Defect, Coronary Sinus Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Turner Syndrome |
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High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... |
ORPHA:881 |
Mosaic Monosomy X |
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High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... |
ORPHA:99228 |
Monosomy X |
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High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High, narrow palate, High palate, Inflammation of the large intestine, Celiac disease, Recurrent ... |
ORPHA:99413 |
Atrial Septal Defect, Ostium Secundum Type |
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Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Mowat-Wilson Syndrome |
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Pyloric stenosis, Dysphagia, Aganglionic megacolon, Cleft palate, Vomiting, Periventricular heter... |
ORPHA:2152 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Dysphagia, Recurrent aspiration pneumonia, Feeding difficulties, Fasciitis, Septic arthritis, Ost... |
ORPHA:642 |