Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... |
OMIM:614372 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Recurrent sinusitis, Recurren... |
OMIM:616576 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... |
OMIM:618108 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... |
OMIM:619079 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... |
OMIM:613953 |
Ménétrier Disease |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Stomac... |
ORPHA:2494 |
Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... |
OMIM:613495 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... |
OMIM:613494 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... |
ORPHA:319552 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate |
OMIM:137215 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
ORPHA:436159 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... |
OMIM:613502 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial i... |
OMIM:613501 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... |
OMIM:612692 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... |
OMIM:608106 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency, Common Variable, 3 |
|
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... |
OMIM:613493 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... |
OMIM:614700 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit... |
OMIM:620632 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... |
OMIM:608957 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis |
ORPHA:160148 |
Complement Factor B Deficiency |
|
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis |
OMIM:615561 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... |
ORPHA:275 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... |
OMIM:620449 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... |
OMIM:300636 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Conjunctivitis, Recurrent otitis ... |
OMIM:240500 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Increased circulating interleukin 6 concentration,... |
OMIM:301074 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... |
OMIM:193670 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palat... |
OMIM:147060 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level... |
OMIM:616873 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,... |
OMIM:606843 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media... |
OMIM:607594 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia |
OMIM:619437 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Inflammation of the large in... |
ORPHA:98813 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent viral infections, Diarrhea, Protracted diarrhea, Acute otitis media, Recurrent candida ... |
ORPHA:572 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... |
OMIM:613779 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Diarrhea, Gastritis |
ORPHA:2575 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... |
OMIM:243700 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Chronic diarrhea, Recurrent bact... |
OMIM:116920 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... |
OMIM:619381 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... |
OMIM:615978 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... |
OMIM:601495 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid dermatitis, Recur... |
ORPHA:83471 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... |
ORPHA:2688 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Decreased circulating IgG level, Sepsis, Diarrhea, Chronic mucocutaneous candidiasis, ... |
ORPHA:276 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bronchitis, Men... |
ORPHA:331235 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Diarrhea, Recurrent enteroviral infections, Septic arthritis, Conjunctivitis, Enterovi... |
OMIM:307200 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... |
OMIM:609536 |
Immunodeficiency 12 |
|
Recurrent viral infections, Esophageal stricture, Recurrent aphthous stomatitis, Complete or near... |
OMIM:615468 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... |
OMIM:608184 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Skin rash, Myositis, Gastritis,... |
ORPHA:809 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Endocarditis, Gastrointestinal h... |
ORPHA:73263 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... |
OMIM:613496 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Recurrent viral infections, Sepsis, Secretory diarrhea, Necrotizing enterocol... |
OMIM:619573 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... |
ORPHA:911 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis, Recurrent bacterial infections |
OMIM:619693 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections |
ORPHA:169079 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Diarrhea, Hepatitis, Abn... |
OMIM:308230 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... |
ORPHA:3261 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Diarrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Iridocycli... |
OMIM:240300 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Abnormal circulating IgM level, Neutrophilic infiltration of the skin... |
OMIM:618048 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel... |
OMIM:606367 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... |
OMIM:607676 |
Syndromic Diarrhea |
|
Intractable diarrhea, Panhypogammaglobulinemia, Villous atrophy, Colitis, Gastritis, Hepatoblasto... |
ORPHA:84064 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phosph... |
OMIM:620565 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ... |
OMIM:610984 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematochezia, Pneumonia, Diarrhea, Atopic dermatitis, Hepatitis, Increased ci... |
OMIM:615846 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Iridocyclitis, Keratoconjunctivi... |
ORPHA:227990 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Recurrent viral infections, Recurrent enteroviral infections, Ly... |
ORPHA:331206 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Hashimoto thyroiditis, Iridocycl... |
ORPHA:227982 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Recurrent viral infections, Diarrhea, Periodontitis, Recurrent aphthous stomatitis, Re... |
ORPHA:486 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233710 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Eczematoid dermatitis |
OMIM:300299 |
Omenn Syndrome |
|
Pneumonia, Diarrhea, Recurrent viral infections, Recurrent fungal infections, Erythroderma, Recur... |
OMIM:603554 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:233690 |
Ethylene Glycol Poisoning |
|
Vomiting, Hypocalcemia, Gastritis, Nausea, Hyperkalemia |
ORPHA:31826 |
Pgm3-Cdg |
|
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Esophagitis, Incr... |
ORPHA:443811 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating... |
ORPHA:48435 |
Immunodeficiency 23 |
|
Allergic rhinitis, Recurrent staphylococcal infections, Bronchiectasis, Chronic mucocutaneous can... |
OMIM:615816 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial in... |
OMIM:617475 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... |
ORPHA:169090 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Diarrhea, Chronic mucocutaneous candi... |
OMIM:102700 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Severe cytomegalovir... |
OMIM:300291 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections... |
OMIM:613179 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenit... |
ORPHA:51636 |
Liver Disease, Severe Congenital |
|
Pneumonia, Protein-losing enteropathy, Sepsis, Diarrhea, Vomiting, Eczematoid dermatitis, Increas... |
OMIM:619991 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
Specific Granule Deficiency 1 |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections |
OMIM:245480 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Decreased circulating total IgG, Diarrhea, Gastroesophageal reflux, R... |
ORPHA:221139 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Elevated... |
OMIM:615895 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Bronch... |
ORPHA:60033 |
Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Conjunctivitis, Episcleritis, Skin rash, Inflammatory abnormality of the eye, Arthritis... |
ORPHA:36412 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... |
OMIM:306400 |
Mirage Syndrome |
|
Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Aspiration pneumonia, Chroni... |
OMIM:617053 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Recurrent skin infections |
OMIM:612840 |
Immunodeficiency 21 |
|
Osteomyelitis, Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium a... |
OMIM:614172 |
Viss Syndrome |
|
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Celiac disease, High pa... |
OMIM:619472 |
Immunodeficiency 47 |
|
Decreased circulating total IgG, Chronic decreased circulating total IgG, Exocrine pancreatic ins... |
OMIM:300972 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... |
ORPHA:1876 |
Lysinuric Protein Intolerance |
|
Diarrhea, Increased LDL cholesterol concentration, Hyperglycinemia, Increased circulating antibod... |
ORPHA:470 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Bifid uvula, Hyperphosphatemia, Hypocalcemia, Recurrent bacterial infections, Hypocalcemic seizures |
OMIM:241410 |
Cystic Fibrosis |
|
Gastroesophageal reflux, Bronchiectasis, Recurrent respiratory infections, Recurrent Aspergillus ... |
ORPHA:586 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent pneumonia, Vomiting, Recurrent upper respiratory tract infections, Gastroesophageal ref... |
OMIM:150230 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Periodontitis, Recurrent respiratory infections, Increased c... |
ORPHA:167 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, M... |
OMIM:242840 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology |
ORPHA:234 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Hyperlipidemia, Hyperuricemia, Pancreatitis, Recurrent... |
OMIM:232220 |
Shwachman-Diamond Syndrome |
|
Pneumonia, Hypoamylasemia, Recurrent viral infections, Sepsis, Eczematoid dermatitis, Exocrine pa... |
ORPHA:811 |
Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en... |
ORPHA:779 |
Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Recurrent otitis media, Intestinal malrotation, Chronic sinus... |
ORPHA:244 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va... |
ORPHA:2968 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Otitis ... |
OMIM:612541 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Recurrent otitis media, Recurrent ab... |
OMIM:608233 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Hyperlipidemia, Gout, Hyperuricemia... |
ORPHA:79259 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Abnormality of the gastrointestinal tract, Chronic diarrhea, Stea... |
ORPHA:2176 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Macroglossia, Decreased circulating antibody level |
OMIM:248500 |
Chromomycosis |
|
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis |
ORPHA:182 |
Chediak-Higashi Syndrome |
|
Recurrent infections, Recurrent systemic pyogenic infections, Periodontitis, Recurrent bacterial ... |
OMIM:214500 |
Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Scleritis, Agan... |
ORPHA:2273 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Williams Syndrome |
|
Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Abnormal circulating lipid concentrat... |
ORPHA:904 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent aspiration pneumonia, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent Staphylococ... |
ORPHA:642 |