Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Crohn's disease, Recurrent lower respiratory tr... |
OMIM:619632 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent oral herpes, Neutropenia ... |
OMIM:619220 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... |
OMIM:608106 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Membranoproliferative glom... |
OMIM:613779 |
C1Q Deficiency 1 |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i... |
OMIM:613652 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Hydronephrosis, Chronic decreased circulating total IgG, Complete or... |
OMIM:613496 |
Immunodeficiency 64 With Lymphoproliferation |
|
Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in response to mi... |
OMIM:618534 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Autoimmu... |
OMIM:617006 |
Systemic Lupus Erythematosus 16 |
|
Decreased circulating complement C3 concentration, Perinuclear antineutrophil antibody positivity... |
OMIM:614420 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Acute kidney injury, Skin ... |
ORPHA:567544 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Respiratory distress, Decreased circulating IgG3 level, Respira... |
OMIM:619773 |
C3 Glomerulopathy |
|
Decreased circulating complement C3 concentration, Glomerular extracapillary hypercellularity, Ne... |
ORPHA:329918 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin, Polyarticular arthritis, Recurren... |
OMIM:235900 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Antinuclear antibody positivity, Anti-thyroid peroxidase antibody positivity, Skin rash, Anti-bet... |
OMIM:618048 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... |
OMIM:613494 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... |
OMIM:300636 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... |
OMIM:606843 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 86 |
|
Impaired oxidative burst, BCGitis, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent sinusitis, Antinuclear antibody positivity, Decreased circulating complement C3 concent... |
OMIM:615559 |
Autoimmune Lymphoproliferative Syndrome |
|
Antinuclear antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Autoimmune... |
OMIM:601859 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infect... |
OMIM:137100 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... |
OMIM:300310 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent ear infections, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sinopulmona... |
OMIM:615513 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract,... |
OMIM:609529 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... |
OMIM:613493 |
Immunodeficiency 24 |
|
Severe varicella zoster infection, Decreased circulating IgG level, Defective T cell proliferatio... |
OMIM:615897 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria, Increased circulating IgA level |
OMIM:314000 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Postinfectious Vasculitis |
|
Severe Epstein Barr virus infection, Ischemic stroke, Recurrent Staphylococcus aureus infections,... |
ORPHA:48435 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... |
ORPHA:275 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... |
OMIM:613500 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurren... |
OMIM:240500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Antinuclear antibody positivity, Antiphospholipid antibody positivity, Nephrotic synd... |
OMIM:603909 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... |
OMIM:618944 |
Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Recurrent bronchitis, Autoimmunity, Nephritis, Complement deficiency |
OMIM:216950 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... |
OMIM:613953 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic an... |
OMIM:618495 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Meningitis, Impaired memory B cell generation, Sepsis, Decreased circulat... |
OMIM:308230 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... |
OMIM:611521 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Telangiectasia, Cytoplasmic antineutrophil antibody positivity, Skin rash, Raynaud ph... |
OMIM:615934 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... |
OMIM:618982 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... |
OMIM:612692 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Adult Idiopathic Neutropenia |
|
Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori infection, Rec... |
ORPHA:2688 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease, Reduced hemolytic complement activity, Decreased circulating com... |
OMIM:612446 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Decreased circulating complement C4 concentration, Systemic lupus erythematos... |
OMIM:614380 |
Complement Factor I Deficiency |
|
Decreased circulating complement factor B concentration, Septic arthritis, Decreased circulating ... |
OMIM:610984 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Arthritis, Restrictive ventilatory defect, Dyspnea, Crescentic glomerulonep... |
OMIM:616414 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Decreased lymphocyte proliferation in response to mitogen, Recurrent lower respi... |
ORPHA:169154 |
Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Asthma, Recurrent sinopulmonary inf... |
OMIM:607271 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... |
OMIM:614699 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased circulating total IgM, Disseminated molluscum contagiosum, Bronchiectasis, Eosinophilic... |
OMIM:243700 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... |
OMIM:607685 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent EBV viremia, Bronchiectasis, Autoimmunity, Recurrent bacterial infections, Recurrent u... |
OMIM:616005 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... |
OMIM:608184 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Increased circulating beta-2-microglobulin level, Cryoglobulinemia, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Immunodeficiency, Common Variable, 1 |
|
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Neutropenia in presence of anti-... |
OMIM:607594 |
Immunodeficiency 27A |
|
Rheumatoid factor positive, Abnormal bronchus physiology, Pneumonia, Increased circulating IgM le... |
OMIM:209950 |
Chilblain Lupus |
|
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... |
ORPHA:90280 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Decreased circulating complement C7 concentration, Recurrent Nei... |
OMIM:610102 |
Simple Cryoglobulinemia |
|
Pericarditis, Viral hepatitis, Microscopic hematuria, Arthritis, Increased circulating IgM level,... |
ORPHA:91139 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus, Meningitis, Decreased circulating complement C8 concentration |
OMIM:613790 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent bacterial infections, Recurrent u... |
OMIM:193670 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Anti-thyroid peroxidase antibody positivity, Recurrent oral herp... |
OMIM:615577 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... |
OMIM:613501 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Meningiti... |
OMIM:619707 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased circulating beta-2-... |
ORPHA:572 |
Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis,... |
OMIM:617388 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Retinal telangiectasia, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Pulmonary insufficiency, Lack of T cell function, Anti-thyroi... |
ORPHA:277 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Spider hemangioma, Fulminant hepatitis, Increased circulating antibody... |
ORPHA:2137 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections, Partial functional complement factor D deficiency |
OMIM:613912 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Severe Epstein Barr virus infection, Reduced natural killer cell activity, Decreased circulating ... |
OMIM:308240 |
Satoyoshi Syndrome |
|
Genu varum, Abnormality of the knee, Tapered finger, Sparse or absent eyelashes, Short stature, A... |
ORPHA:3130 |
Pgm3-Cdg |
|
Bronchiectasis, Reduced antigen-specific T cell proliferation, Eczema, Bone marrow hypocellularit... |
ORPHA:443811 |
Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... |
ORPHA:261529 |
Selective Igm Deficiency |
|
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... |
ORPHA:331235 |
Immunodeficiency 23 |
|
Persistent EBV viremia, Severe varicella zoster infection, Bronchiectasis, Recurrent Staphylococc... |
OMIM:615816 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... |
ORPHA:411593 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, D... |
ORPHA:183675 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Autoimmunity, Decreased circulating a... |
ORPHA:169079 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Coccidioidomycosis, Lymphadenitis, Salmonella osteomyelitis, ... |
ORPHA:319552 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased circulating complement C8 concentration, Recurrent Neisserial infections |
OMIM:613789 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Acne, Short stature, Synophrys, Abnormality of the ovary, Brachydactyly, ... |
ORPHA:247768 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Decreased circulating complement C3 concentration, Neph... |
OMIM:608709 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus, Complement deficiency |
OMIM:613791 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... |
OMIM:614372 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Abnormal rib cage mo... |
OMIM:312300 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... |
OMIM:300291 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 102 |
|
Sepsis, Severe varicella zoster infection, Increased circulating interleukin 6 concentration, Dec... |
OMIM:301082 |
Complement Factor H Deficiency |
|
Depletion of components of the alternative complement pathway, Glomerular subendothelial electron... |
OMIM:609814 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... |
ORPHA:276 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... |
OMIM:616100 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating total IgM, Post-vaccination measles, Severe... |
OMIM:616636 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... |
ORPHA:555905 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Disseminated molluscum contagiosum, Decreased circulating total IgM, Bronchiectasis, Asthma, Ulce... |
OMIM:617638 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis |
OMIM:162700 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density, Skin rash, Increased circulating IgM level, Vasculitis |
ORPHA:37748 |
Combined Immunodeficiency, X-Linked |
|
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level |
OMIM:312863 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Recurrent infections, Decreased specific antibody response to po... |
OMIM:616452 |
Igg4-Related Aortitis |
|
Antinuclear antibody positivity, Increased circulating IgG4 level, Increased circulating antibody... |
ORPHA:449400 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Short stature, Shawl scrotum, Epicanthus, Congenital contracture, Clinodacty... |
ORPHA:261279 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Autoimmune thrombocytopenia, Myocardial infarction, Increa... |
ORPHA:3325 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Decreased circulating complement C3 concentration, Nephrotic syndrome, Hematuria, Membranoprolife... |
OMIM:613913 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen... |
ORPHA:169160 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthritis, Ecz... |
OMIM:304790 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks, Recurrent upper re... |
OMIM:615139 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Thymoma |
|
Decreased circulating antibody level, Rheumatoid arthritis, Anti-acetylcholine receptor antibody ... |
ORPHA:99867 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti... |
OMIM:618394 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Eczema, Increased circulating IgM level, Reduced d... |
OMIM:617241 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... |
OMIM:300510 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conjunctivitis, 2-3 toe syndactyly, Sparse body hair, Absent eyelashes, Ankyloblepharon, Vaginal ... |
OMIM:106260 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1... |
ORPHA:37042 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pneumocystis jirovecii pne... |
OMIM:614069 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Eczema, Decreased circulati... |
OMIM:300988 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... |
ORPHA:1916 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hepatitis, Autoimmunity, Conjugated hyperbilirubinemia,... |
ORPHA:186 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... |
OMIM:617765 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... |
ORPHA:178320 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Decreased circulating total IgM, Reduced natural killer cell activity, Recur... |
OMIM:619281 |
Autoimmune Lymphoproliferative Syndrome |
|
Glomerulonephritis, Gastritis, Bone marrow hypocellularity, Panniculitis, Colitis, Antinuclear an... |
ORPHA:3261 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... |
ORPHA:331206 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Recurrent Staphylococcus aureus infections, Craniosynostosis, Skin rash, Rec... |
OMIM:147060 |
Bare Lymphocyte Syndrome, Type Ii |
|
Panhypogammaglobulinemia, Infectious encephalitis, Recurrent urinary tract infections, Chronic mu... |
OMIM:209920 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Recurrent respiratory infections, Asthma,... |
ORPHA:217390 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Methicillin-resistant Staphylococcus aureus infection, Osteomyelitis, Chronic oral candidiasis, B... |
OMIM:618282 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Hypoproteinemia, ... |
OMIM:241600 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Decreased circulating total IgM, Defective T cell proliferation, Ec... |
OMIM:619774 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Absent pubic hair, Elevated circulating lu... |
OMIM:612964 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Anti-U1 ribonucleoprotein antibody positivity, Thyroiditis, Autoimmune thrombocytopenia, Glomerul... |
OMIM:619375 |
Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Circulating immune complexes, Glomerulonephritis, Re... |
OMIM:607665 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circulating Ig... |
OMIM:615758 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteinemia, Decreased ... |
OMIM:617744 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... |
OMIM:618969 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Recurrent respiratory infections, Increased... |
OMIM:615767 |
Zika Virus Disease |
|
Conjunctivitis, Wrist swelling, Myelitis, Skin rash, Arthritis, Ankle swelling, Meningitis, Incre... |
ORPHA:448237 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Increased circulating IgA... |
ORPHA:343 |
Thymic Aplasia |
|
Hypocalcemic tetany, Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningi... |
ORPHA:83471 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Joint ... |
OMIM:617099 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Short stature, Epicanthus, Synophrys, Clinodactyly o... |
ORPHA:3268 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Recurrent infections, Decreased circulating total IgM |
OMIM:606445 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Antinuclear antibody positivity, Vasculitis in the skin, Inflammat... |
ORPHA:90159 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... |
OMIM:601457 |
Systemic Lupus Erythematosus |
|
Malar rash, Antiphospholipid antibody positivity, Arthritis, Nephritis, Pericarditis, Systemic lu... |
OMIM:152700 |
Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Aplasia of the ovary, Absent lacrimal punctum, Toe syndactyly, 3-4 fing... |
ORPHA:69085 |
Boutonneuse Fever |
|
Skin rash, Increased circulating IgM level, Respiratory failure, Renal insufficiency, Maculopapul... |
ORPHA:83313 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent opportunistic infections, Decreased lymphocyte proliferation in response to mitogen, Re... |
OMIM:613179 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Joint contracture of the hand, Arthropathy, Craniosynostosis, Hip dislocation, Ec... |
OMIM:618523 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Increased susceptibility to fractures, Decreased circulating total IgM, Bronchiectasis, Asthma, C... |
OMIM:619752 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM |
OMIM:610798 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... |
ORPHA:70578 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... |
OMIM:619824 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Autoimmunity, Autoimmune thrombocytopenia, Recurrent infect... |
OMIM:614470 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Infertility, Male hypogonadism, Abnorma... |
ORPHA:168563 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Bicornuate uterus, Azoospermia, Sprengel anomaly, Abnormal rib morphology, Hypopla... |
OMIM:601076 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Post-vaccination polio |
OMIM:616941 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Recurrent sinusitis, Eczema, Decreased specific anti-polysaccharide anti... |
OMIM:301000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosing ch... |
ORPHA:562639 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Alopecia, Genu valgum, Short metacarpal, Short s... |
OMIM:600705 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... |
OMIM:614851 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal angiomyolipom... |
OMIM:260920 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Enteroviral dermatomyositis syndrome,... |
OMIM:307200 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Acute kidney injury, Decre... |
ORPHA:859 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Lassa Fever |
|
Conjunctivitis, Shock, Dyspnea, Cough, Increased circulating IgM level, Oliguria, Sepsis |
ORPHA:99824 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Diffuse Alveolar Hemorrhage |
|
Decreased circulating complement C3 concentration, Antiphospholipid antibody positivity, Hypoxemi... |
ORPHA:90060 |
Immunodeficiency 52 |
|
Persistent EBV viremia, Bronchiectasis, Decreased circulating antibody level, Autoimmune thromboc... |
OMIM:617514 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Sparse body hair, Impotence, Secondary amenorrhea, Decreased testicular size... |
ORPHA:432 |
Idiopathic Pulmonary Hemosiderosis |
|
Heart murmur, Diffuse alveolar hemorrhage, Autoimmune antibody positivity, Rheumatoid factor posi... |
ORPHA:99931 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinopulmonary... |
OMIM:616576 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Conjunctivitis, Sparse eyebrow, Sparse eyelashes, Folliculitis, Scarring alopecia of scalp, Ectro... |
OMIM:308800 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
Angiostrongyliasis |
|
Stiff neck, Unusual CNS infection, Increased circulating specific IgE antibody, Meningitis, Incre... |
ORPHA:74 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Clouston Syndrome |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Short stature, Brittle hair, Alopecia totalis, Fine hai... |
OMIM:129500 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... |
ORPHA:48377 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Thyroiditis, Increased circulating IgE level, Recurrent infections, Eczema |
OMIM:618985 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Hypoplasia of the ovary, Delayed puberty, Absent p... |
OMIM:614841 |
X-Linked Lymphoproliferative Disease |
|
Severe Epstein Barr virus infection, Myocarditis, Hypertriglyceridemia, Decreased circulating tot... |
ORPHA:2442 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Enamel hypoplasia, Folliculitis, Scarring alopecia of s... |
OMIM:612843 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Blepharophimosis, Sparse pubic hair, Mic... |
OMIM:110100 |
Immunodeficiency 85 And Autoimmunity |
|
Persistent EBV viremia, Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circul... |
OMIM:619510 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circu... |
OMIM:617690 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... |
OMIM:614878 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Complement Factor B Deficiency |
|
Decreased circulating complement factor B concentration, Recurrent meningococcal disease, Recurre... |
OMIM:615561 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Increased circulating IgG4 level, Prostatitis, Sclerosing cholangiti... |
ORPHA:449395 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Abnormal circulating lipid concentration... |
ORPHA:2298 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Abnormality of tumor nec... |
ORPHA:158061 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Sepsis, Decreased circulating IgG level,... |
OMIM:614700 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Ischemic stroke, Impaired T cell function, Bone marrow hypocellulari... |
ORPHA:1830 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Pneumonia, Recurrent candida infections, Recurrent respiratory infectio... |
OMIM:269840 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Abnormal morphology of the chordae tendinae of the mitral valve, Left... |
ORPHA:75566 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed puberty, Elevated circulating l... |
OMIM:619665 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Inflammatory abnormality of the skin, Asthma, Skin rash, Decreas... |
OMIM:102700 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Secondary amenorrhea, Premature ovarian insufficiency, Bicornuate uterus, Hyp... |
OMIM:615300 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myo... |
ORPHA:36234 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Exertional dyspnea, Increased circulating antibody level, Dyspne... |
OMIM:178500 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Recurrent bacterial infections, Agammaglobulinemia, Seborrheic dermatitis |
OMIM:619693 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Inflammatory abnormality of the eye, Pleural effusion, Airway obstruction, Mening... |
ORPHA:36412 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Sparse body hair, Hypogonadism, Short stature, Decreased testicular size, Hy... |
ORPHA:2234 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Catastrophic Antiphospholipid Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Abnormality of serum cyt... |
ORPHA:464343 |
Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia... |
ORPHA:470 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Multiple Myeloma |
|
Decreased circulating antibody level, Acute kidney injury, Nephrotic syndrome, Abnormality of the... |
ORPHA:29073 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Synophrys, Hypoplastic labia majora, Hip dislocation, Elbow dislocation, Pectus e... |
ORPHA:199 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level |
OMIM:233650 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Flexion contracture, Nephrotic syndrome, Enlarged kidney, Recurrent bronch... |
OMIM:617303 |
Primary Membranoproliferative Glomerulonephritis |
|
Decreased circulating complement C3 concentration, Renal insufficiency, Nephrotic syndrome, Acute... |
ORPHA:54370 |
Perrault Syndrome 3 |
|
Streak ovary, Short stature, Elevated circulating luteinizing hormone level, Hypergonadotropic hy... |
OMIM:614129 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Short stature, Developmental cataract, Failure to thrive, Delayed puberty, Psoriasiform dermatiti... |
OMIM:616834 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis |
OMIM:613783 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Skin rash, Vasculitis in the skin |
ORPHA:90000 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Panhypogammaglobulinemia, Recurrent respiratory infections, Erythema nodosum, Recurrent infection... |
OMIM:615214 |
Lymphoproliferative Syndrome 1 |
|
Persistent EBV viremia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Autoimmun... |
OMIM:613011 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... |
ORPHA:567548 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... |
ORPHA:911 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Rheumatoid factor positive, Pro... |
ORPHA:85435 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Severe varicella zoster infection, Recurrent respiratory infections, Chronic oral candidiasis, Th... |
OMIM:606367 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Kid Syndrome |
|
Coxa valga, Corneal erosion, Acne inversa, Keratoconjunctivitis sicca, Punctate keratitis, Recurr... |
ORPHA:477 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis |
OMIM:615468 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... |
OMIM:601495 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Arthritis, Limitation of joint mobility, M... |
ORPHA:69126 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Decreased circulating antibody level, Hyperhomocystinemia, Autoimmunity, Eczema... |
OMIM:617780 |
Igg4-Related Retroperitoneal Fibrosis |
|
Large vessel vasculitis, Psoriasiform dermatitis, Membranous nephropathy, Acute kidney injury, De... |
ORPHA:49041 |
Immunodeficiency 92 |
|
Osteomyelitis, Recurrent oral herpes, Sclerosing cholangitis, Esophagitis, Cholangitis, BCGosis, ... |
OMIM:619652 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, Decreased circu... |
OMIM:619924 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Corneal opacity, Curly ey... |
OMIM:602400 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis |
OMIM:616069 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Asthma, Hypoxemia, Autoimmunity, Pleural effusion, Crackles, Nonproductive cou... |
ORPHA:2902 |
Xeroderma Pigmentosum |
|
Alopecia, Entropion, Hypogonadism, Short stature, Decreased testicular size, Ankyloblepharon, Pte... |
ORPHA:910 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:614837 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Patchy alopecia, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Bicornuate uterus, Azoospermia, Low posterior hairline, Abnormal rib morphology, A... |
ORPHA:2578 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr... |
OMIM:313900 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Recurrent respiratory infections, Functional abnormality of the... |
ORPHA:2571 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Extrapulmonary tuberculosis, Nephrotic syndrome,... |
OMIM:619644 |
Amed Syndrome, Digenic |
|
Short stature, Failure to thrive, Telecanthus, Long thumb, Hypoplasia of the uterus |
OMIM:619151 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Eec Syndrome |
|
Hypoplasia of the thymus, Corneal erosion, Toe syndactyly, Anterior hypopituitarism, Inflammatory... |
ORPHA:1896 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circulating IgM level, Pneu... |
OMIM:242860 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 15B |
|
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Decreased ci... |
OMIM:615592 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Pneumocystosis |
|
Respiratory insufficiency, Chronic oral candidiasis, Exertional dyspnea, Increased circulating an... |
ORPHA:723 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary amenorrhea, Hypoplasia of the uterus, Decreased fertility, Sparse body hair, Enlarged pol... |
ORPHA:90796 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... |
OMIM:613860 |
Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Increased circulating IgA level |
OMIM:616395 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Decreased circulating antibody level, Interstitial pneumonitis, Neutropenia in presence of anti-n... |
OMIM:615952 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Blepharophimosis, Narrow chest, Hypoplasia of penis, Failure to thrive, ... |
ORPHA:1703 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema |
OMIM:607115 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:300861 |
Immunodeficiency 97 With Autoinflammation |
|
Enterocolitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurrent u... |
OMIM:619802 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Scleritis, Cytoplasmic antineutrophil antibody positivity, Glomerulo... |
ORPHA:93126 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Recurrent infections, Decreased circulating antibody level |
OMIM:616098 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent respiratory infections, Recurrent infections |
OMIM:614102 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Dyskeratosis Congenita |
|
Alopecia, Abnormal eyebrow morphology, Abnormal testis morphology, Premature graying of hair, Sho... |
ORPHA:1775 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Fair hair, Blue irides, Sparse eyelashes, Ectrodactyly, Blepharophimosis, Sparse ... |
OMIM:604292 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Brucellosis |
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Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... |
ORPHA:1304 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Severe infection, Limitation of movement at ankles, Limited hip movement, Limited elbow flexion, ... |
ORPHA:206594 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... |
ORPHA:85410 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Toe syndactyly, Fair hair, Blue irides, Sparse eyelashes, Sparse hair, Telecanthus, Blepharophimo... |
OMIM:129900 |
Myelolymphatic Insufficiency |
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Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Increased circulating antibody level, Enlarged kidney, Recurrent infections |
OMIM:615285 |
Sneddon Syndrome |
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Ischemic stroke, Decreased circulating total IgM, Cerebral hemorrhage, Hypertension, Antiphosphol... |
OMIM:182410 |
Flotch Syndrome |
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Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyelash morphology, Spa... |
ORPHA:2045 |
Eosinophil Peroxidase Deficiency |
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Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Brachydactylous Dwarfism, Mseleni Type |
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Protrusio acetabuli, Hip osteoarthritis, Autoimmunity, Abnormality of the wrist, Limitation of jo... |
ORPHA:2619 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Reduced natural killer c... |
ORPHA:540 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Ecz... |
ORPHA:2273 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Tubulointerstitial nephritis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:79078 |
Complete Androgen Insensitivity Syndrome |
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Sparse axillary hair, Bilateral cryptorchidism, Sparse pubic hair, Absent axillary hair, Aplasia ... |
ORPHA:99429 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Flexion contracture, Hypertrophic cardiomyopathy, Airway obstruction, Bone marrow hypocellularity... |
ORPHA:505248 |
Roifman Syndrome |
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Ventricular septal defect, Retinal dystrophy, Noncompaction cardiomyopathy, Prominent eyelashes, ... |
OMIM:616651 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Hypertriglyceridemia, Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nod... |
OMIM:300635 |
Premature Ovarian Failure 19 |
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Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Immunodeficiency 67 |
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Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... |
OMIM:607676 |
Tularemia |
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Conjunctivitis, Brain abscess, Erythema nodosum, Increased circulating antibody level, Skin rash,... |
ORPHA:3392 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of the knee, Generalized morning st... |
ORPHA:85436 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Decreased fert... |
ORPHA:572333 |
Mu-Heavy Chain Disease |
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Increased circulating antibody level, Osteolysis, Nephropathy, Bence Jones Proteinuria, Osteoporosis |
ORPHA:100024 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Testicular Regression Syndrome |
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Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Prolidase Deficiency |
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Crusting erythematous dermatitis, Increased circulating antibody level, Asthma, Eczema, Recurrent... |
OMIM:170100 |
Hemorrhagic Fever-Renal Syndrome |
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Hypotension, Acute tubulointerstitial nephritis, Pleural effusion, Glomerulonephritis, Shock, Pal... |
ORPHA:340 |
Nephrotic Syndrome, Type 11 |
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Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Recurrent opportunistic infections, Lack of T cell function, Decreased circulating total IgM, Dec... |
ORPHA:35078 |
Peeling Skin Syndrome 1 |
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Nail dystrophy, Eosinophilia, Brittle hair |
OMIM:270300 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Estrogen Resistance |
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Breast aplasia, Delayed puberty, Polycystic ovaries, Primary amenorrhea, Acne, Hypoplasia of the ... |
OMIM:615363 |
Cd8 Deficiency, Familial |
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Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
Autosomal Agammaglobulinemia |
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Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Agammaglobulinemi... |
ORPHA:33110 |
Acrodermatitis Enteropathica |
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Conjunctivitis, Alopecia, Abnormal eyebrow morphology, Abnormal eyelid morphology, Corneal erosio... |
ORPHA:37 |
Systemic Sclerosis |
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Osteolytic defects of the phalanges of the hand, Flexion contracture, Elevated circulating creati... |
ORPHA:90291 |
Palmoplantar Keratoderma, Epidermolytic |
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Increased circulating IgE level |
OMIM:144200 |
Coccidioidomycosis |
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Unusual CNS infection, Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Oste... |
ORPHA:228123 |
X-Linked Agammaglobulinemia |
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Conjunctivitis, Osteomyelitis, Hepatitis, Skin rash, Arthritis, Autoimmunity, Recurrent cutaneous... |
ORPHA:47 |
Androgen Insensitivity Syndrome |
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Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, In... |
ORPHA:754 |
Systemic Lupus Erythematosus 17 |
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Malar rash, Decreased circulating complement C3 concentration, Myelitis, Raynaud phenomenon, Anti... |
OMIM:301080 |
Poikiloderma With Neutropenia |
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Conjunctivitis, Sparse eyebrow, Sparse lateral eyebrow, Short stature, Skin rash, Recurrent sinus... |
OMIM:604173 |
Hydatidiform Mole, Recurrent, 3 |
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Female infertility |
OMIM:618431 |
Cherubism |
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Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
Tempi Syndrome |
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Telangiectasia, Abnormality of the kidney, Hypoxemia, Intracranial hemorrhage, Transudative pleur... |
ORPHA:284227 |
Autoinflammatory Disease, Systemic, X-Linked |
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Osteomyelitis, Decreased circulating total IgM, Cerebral hemorrhage, Decreased circulating antibo... |
OMIM:301081 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
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Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia |
OMIM:618092 |
Cystic Echinococcosis |
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Invasive parasitic infection, Increased circulating antibody level, Asthma, Hyperbilirubinemia, U... |
ORPHA:400 |
Autosomal Dominant Spondylocostal Dysostosis |
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Upslanted palpebral fissure, Short thorax, Missing ribs, Posterior rib fusion, Spina bifida occul... |
ORPHA:1797 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Metatarsus valgus, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Short stature,... |
ORPHA:3082 |
Immunodeficiency 38 With Basal Ganglia Calcification |
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Recurrent mycobacterial infections |
OMIM:616126 |
Renal Cysts And Diabetes Syndrome |
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Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... |
OMIM:137920 |
Immunodeficiency 46 |
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Conjunctivitis, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent sinopul... |
OMIM:616740 |
Immunodeficiency 11 |
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Recurrent respiratory infections, Decreased circulating antibody level, Pneumocystis jirovecii pn... |
OMIM:615206 |
Renpenning Syndrome |
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Alopecia, Upslanted palpebral fissure, Epicanthus, Decreased testicular size, Thin eyebrow, Cache... |
ORPHA:3242 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
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Sparse body hair, Sparse scalp hair, Eczema, Sparse eyelashes, Blepharitis, Sparse hair, Slow-gro... |
OMIM:618535 |
Pyoderma Gangrenosum |
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Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammation of the large i... |
ORPHA:48104 |
46,Xy Sex Reversal 3 |
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Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Thymic Tumor |
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Cardiac arrest, Autoimmunity, Pericarditis, Cough, Dyspnea, Dysgammaglobulinemia |
ORPHA:100100 |
46,Xy Sex Reversal 11 |
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Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... |
OMIM:273250 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Recurrent aphthous stomatitis, Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Recurr... |
OMIM:301078 |
Aromatase Deficiency |
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Genu valgum, Enlarged polycystic ovaries, Ambiguous genitalia, female, Eunuchoid habitus, Female ... |
ORPHA:91 |
Rift Valley Fever |
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Retinal hemorrhage, Hepatitis, Skin rash, Hematuria, Severe viral infection, Uveitis, Increased c... |
ORPHA:319251 |
Chromosome 16Q22 Deletion Syndrome |
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Short palpebral fissure, Epicanthus, Small for gestational age, Hip dysplasia, Blepharophimosis, ... |
OMIM:614541 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hepatitis, Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
ORPHA:444463 |
Roifman Syndrome |
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Retinal dystrophy, Noncompaction cardiomyopathy, Prominent eyelashes, Hepatosplenomegaly, Eosinop... |
ORPHA:353298 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Increased circulating in... |
OMIM:256040 |
10Q22.3Q23.3 Microduplication Syndrome |
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Upslanted palpebral fissure, Ambiguous genitalia, Hypospadias, Abnormal clavicle morphology, Abno... |
ORPHA:276422 |
Immunodeficiency 110 With Lymphoproliferation |
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Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections |
OMIM:614868 |
Immunodeficiency 28 |
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Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Crohn's disease, Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Wolff-... |
OMIM:619705 |
Neutrophil Actin Dysfunction |
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Recurrent bacterial infections |
OMIM:257150 |
Autoinflammatory-Pancytopenia Syndrome |
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Severe Epstein Barr virus infection, Arthropathy, Chilblains, Membranoproliferative glomeruloneph... |
OMIM:619858 |
Ifap Syndrome 2 |
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Angular cheilitis, Keratoconjunctivitis sicca, Cataract, Keratitis, Sparse hair, Nail dystrophy, ... |
OMIM:619016 |
Complement Component 5 Deficiency |
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Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatit... |
OMIM:609536 |
Q Fever |
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Cryoglobulinemia, Lupus anticoagulant, Pericarditis, Pleural effusion, Abnormal left ventricular ... |
ORPHA:781 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Pulmonary embolism, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Hypertensi... |
ORPHA:567546 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
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Glomerulonephritis, Joint laxity, Chronic kidney disease |
ORPHA:2172 |
Omenn Syndrome |
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Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly, Eosinophilia, Leukocytosis, Sp... |
ORPHA:39041 |
Esophagitis, Eosinophilic, 2 |
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Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
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Eosinophilia |
OMIM:610247 |
Genetic Steroid-Resistant Nephrotic Syndrome |
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Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Immunoneurologic Disorder, X-Linked |
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Decreased circulating IgG2 level, Functional abnormality of the bladder |
OMIM:300076 |
Sweet Syndrome |
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Oligoarthritis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis ... |
ORPHA:3243 |
Adult-Onset Nemaline Myopathy |
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Flexion contracture, Dilated cardiomyopathy, Mildly elevated creatine kinase, Paraproteinemia, Re... |
ORPHA:171442 |
Drug-Induced Lupus Erythematosus |
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Malar rash, Decreased circulating complement C3 concentration, Hematuria, Lupus anticoagulant, Au... |
ORPHA:231111 |
Cornelia De Lange Syndrome 5 |
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Small hand, Hypogonadism, Short stature, Decreased testicular size, Toe syndactyly, Synophrys, Cl... |
OMIM:300882 |
Inclusion Body Myositis |
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Autoimmunity, Elevated circulating creatine kinase concentration |
ORPHA:611 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... |
OMIM:614892 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
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Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
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Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
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Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
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Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
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Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
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Female infertility |
OMIM:617996 |
Myeloma, Multiple |
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Paraproteinemia |
OMIM:254500 |
Omenn Syndrome |
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Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hepatome... |
OMIM:603554 |
Membranoproliferative Glomerulonephritis, X-Linked |
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Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short palpebral fissure, Sparse scalp hair, Decreased response to growth hormone stimulation test... |
OMIM:615866 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Keratoconjunctivitis sicca, Cryoglobulinemia, Polyarticular arthropathy... |
ORPHA:289390 |
Olmsted Syndrome, X-Linked |
|
Blepharitis, Alopecia totalis, Posterior blepharitis |
OMIM:300918 |
Galloway-Mowat Syndrome 7 |
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Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
46,Xy Sex Reversal 4 |
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Distal symphalangism, Sex reversal, Hypoplastic labia majora, Agonadism, Recurrent otitis media, ... |
OMIM:154230 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Epicanthus, Hypoplastic labia majora, Limited elbow extension, Short palm, Hypoplasia of the uter... |
OMIM:618419 |
Netherton Syndrome |
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Aminoaciduria, Decreased circulating antibody level, Asthma, Skin rash, Eczema, Emphysema, Ectopi... |
ORPHA:634 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent ear infections, Decreased circulating total IgM, Decreased lymphocyte proliferation in ... |
ORPHA:221139 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism, Superior rib anomalies |
OMIM:307500 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Blepharitis, Pustule, Erythroderma |
OMIM:614328 |
Lymphoid Interstitial Pneumonia |
|
Bronchiectasis, Rheumatoid arthritis, Skin rash, Enlarged kidney, Keratoconjunctivitis sicca, Ray... |
ORPHA:79128 |
Riddle Syndrome |
|
Telangiectasia, Enuresis nocturna, Decreased circulating total IgM, Arthritis, Neonatal asphyxia,... |
ORPHA:420741 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia |
ORPHA:99965 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Asthma, Colonic eosinophilia, Recurrent viral infections, Atopic dermatitis, ... |
OMIM:618999 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... |
OMIM:618108 |
Meckel Syndrome 12 |
|
Arrhinencephaly, Arthrogryposis multiplex congenita, Antecubital pterygium, Vaginal atresia, Intr... |
OMIM:616258 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Ambiguous genitalia, Rhizomelia, Narrow chest, Cataract, Abnormal clavicle morpholog... |
ORPHA:93267 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:611926 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly of the 5th finger, Congenital d... |
ORPHA:2141 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Autoimmune thrombocytopeni... |
OMIM:619846 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly... |
ORPHA:2319 |
Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tapered finger, Small hand, Short foot, Epicanthus, Fair hair, Synophrys, Recurrent aspiration pn... |
ORPHA:280633 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, Severe varicella zoster infection, Bronchiectasis, Impaired neutrophil che... |
OMIM:618986 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... |
ORPHA:563 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Restric... |
OMIM:614376 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Decreased circulating antibody level, Hypoproteinemia, Recurrent infections, ... |
OMIM:226300 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Lymphatic Filariasis |
|
Lymphadenitis, Opportunistic infection, Nephrotic syndrome, Abnormality of the kidney, Opportunis... |
ORPHA:2035 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level, Functional abnormality of the ... |
DECIPHER:45 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Hypoplasia of penis, Cataract, Disproportionate short-limb short stature, Cr... |
ORPHA:2772 |
Immunodeficiency 56 |
|
Panhypogammaglobulinemia, Bronchiectasis, Chronic hepatitis due to cryptosporidium infection, Pne... |
OMIM:615207 |
Aspergillosis |
|
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Pneumonia, Abnormality on pu... |
ORPHA:1163 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Idiopathic Bronchiectasis |
|