Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Immunodeficiency 25 |
|
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... |
OMIM:610163 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, Recurrent oral herpes, Recu... |
OMIM:619220 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Recurrent bacterial infections, Hydronephrosis, Decreased specific pneumoc... |
OMIM:613496 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Decreased serum complement fact... |
OMIM:613652 |
Immunodeficiency 64 |
|
Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Bronchiectasis, Incr... |
OMIM:618534 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum... |
OMIM:613779 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Rheumatoid fact... |
OMIM:619632 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... |
OMIM:617006 |
C3 Glomerulopathy |
|
Hypertension, Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum c... |
ORPHA:329918 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ... |
OMIM:300310 |
Histiocytosis, Familial Lipochrome |
|
Polyarticular arthritis, Increased circulating antibody level, Recurrent infections, Increased al... |
OMIM:235900 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Recurrent infections, Elevated circulating C-reactive protein concentration, Persis... |
OMIM:615559 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Autoimmune Lymphoproliferative Syndrome |
|
Platelet antibody positive, Decreased lymphocyte apoptosis, Increased circulating IgA level, Neut... |
OMIM:601859 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio... |
OMIM:606843 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:613501 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
Immunoglobulin A Deficiency 1 |
|
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... |
OMIM:137100 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Recurrent ear infections, Bronchiectasis, Recurre... |
OMIM:615513 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity, Recurrent sinopulmonary infections, Recurrent infe... |
OMIM:609529 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... |
OMIM:615897 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmunity, Recurrent otitis media, Recurrent urinary tract infections, Increased circulating a... |
OMIM:618495 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Hematuria |
OMIM:314000 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... |
OMIM:613493 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased ... |
ORPHA:567544 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level, Asthma |
OMIM:208600 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... |
OMIM:612692 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... |
ORPHA:275 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Rheumatoid factor positive, Raynaud phenomenon, Recurrent cand... |
ORPHA:48435 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Platelet antibody positive, Nephrotic syndrome, Decreased lymphocyte apoptosis, Increased circula... |
OMIM:603909 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re... |
OMIM:613502 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... |
OMIM:618944 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Autoimmunity, Impaired T cell function, Decreased circulating IgA... |
OMIM:240500 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Recurrent bronchitis, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency |
OMIM:216950 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Hyoplasia of the Leydig cells, Abnormal... |
ORPHA:755 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Pustule, Myositis, Increased circulating IgA level, Tachypnea, Recurrent infectio... |
OMIM:615934 |
Eosinophilia, Familial |
|
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia |
OMIM:131400 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Increa... |
OMIM:618982 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Complement Component 6 Deficiency |
|
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... |
OMIM:612446 |
Complement Component 4A Deficiency |
|
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... |
OMIM:614380 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Pneumonia, Impaired T cell function, Decreased circulating IgA le... |
OMIM:607594 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea, Pulmonary hemorrhage, Cough, Arthritis, Crescentic glomerulonephritis, Mesangial hyper... |
OMIM:616414 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Increased circulating IgA level, Recurrent viral infections, Decreased lymphocyte p... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 10 |
|
Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l... |
OMIM:615577 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary inf... |
OMIM:607271 |
Complement Component 8 Deficiency, Type I |
|
Meningitis, Systemic lupus erythematosus, Decreased serum complement C8 |
OMIM:613790 |
Complement Factor I Deficiency |
|
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Decreased... |
OMIM:610984 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... |
OMIM:608184 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... |
ORPHA:209004 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Rheumatoi... |
ORPHA:90280 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemo... |
ORPHA:91139 |
Complement Component 7 Deficiency |
|
Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec... |
OMIM:617744 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Autoimmunity, Lack of T cell function, Recurrent herpes, Neutropenia in presence of an... |
ORPHA:572 |
Immunodeficiency 27A |
|
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Rheumatoid factor positive,... |
OMIM:209950 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Autoimmunity, Recurrent viral infections, Decreased circulating a... |
ORPHA:169079 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Pulmonary insufficiency, Autoimmunity, Anti-thyroid peroxidase antibody positivity, In... |
ORPHA:277 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... |
OMIM:178610 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Decreas... |
OMIM:601495 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Polyarticular arthritis, Increased circulating IgA level, Antinuclear... |
OMIM:617388 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul... |
OMIM:193670 |
Autoimmune Hepatitis |
|
Spider hemangioma, Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil an... |
ORPHA:2137 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections |
OMIM:146830 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Hirsutism, Abnormality of the uterus, Primary amenorrhea, Premature ovarian... |
OMIM:300510 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Complement Factor D Deficiency |
|
Complement deficiency, Recurrent bacterial infections |
OMIM:613912 |
Severe Combined Immunodeficiency, X-Linked |
|
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Recurrent fungal infections, Redu... |
OMIM:300400 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
Pgm3-Cdg |
|
Autoimmunity, Eczema, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Chronic otiti... |
ORPHA:443811 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Genu varum, Abnormality of femur morphology, Abnormality of the knee, S... |
ORPHA:3130 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Sepsis, Recurrent herp... |
ORPHA:183675 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Recurrent infections, De... |
OMIM:608709 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... |
OMIM:308240 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Bifid scrotum, Short stature, Abnormality of the male genitalia, Ambiguous genitalia... |
ORPHA:261529 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... |
ORPHA:2688 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,... |
ORPHA:411593 |
Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Sepsis, Bronchiectasis, Decreased circulating IgA level, Decreas... |
OMIM:616100 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Shield chest, Hirsutism, Frontal balding, S... |
ORPHA:247768 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Increased circulati... |
OMIM:615816 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections |
OMIM:613789 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Selective Igm Deficiency |
|
Autoimmunity, Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent her... |
ORPHA:331235 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... |
OMIM:614372 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ... |
ORPHA:276 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level, Recurrent respiratory infections |
OMIM:137050 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections, Decreased serum complement factor H, Hematuria, Depletion of comp... |
OMIM:609814 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Impaired mem... |
OMIM:308230 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Autoimmunity, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:616005 |
Candidiasis, Familial, 2 |
|
Chronic oral candidiasis, Decreased serum iron, Chronic tinea infection, Onychomycosis, Increased... |
OMIM:212050 |
Iga Pemphigus |
|
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... |
ORPHA:555905 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections |
OMIM:616911 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Pneumonia, Recurrent herpes, Failure to thrive sec... |
ORPHA:169160 |
Schnitzler Syndrome |
|
Arthritis, Vasculitis, Increased circulating IgM level, Increased bone mineral density, Skin rash |
ORPHA:37748 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media |
OMIM:312863 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Intrauterine growth retardation, Short stature, Chronic otitis media, Long... |
ORPHA:261279 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Nephrotic syndrome, Hematuria, Recurrent infections, Decreased serum complement C3, Membranoproli... |
OMIM:613913 |
Heparin-Induced Thrombocytopenia |
|
Cerebral ischemia, Myocardial infarction, Increased inflammatory response, Autoimmune thrombocyto... |
ORPHA:3325 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level |
OMIM:162700 |
Igg4-Related Aortitis |
|
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... |
ORPHA:449400 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent infections, Decreased... |
OMIM:616452 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Erythroderma, Hepatitis, Arthritis,... |
OMIM:304790 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... |
OMIM:242850 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Thymoma |
|
Autoimmunity, Abnormal lymphocyte proliferation, Anti-acetylcholine receptor antibody positivity,... |
ORPHA:99867 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... |
OMIM:618394 |
Primary Biliary Cholangitis |
|
Autoimmunity, Increased circulating IgA level, Orthostatic hypotension, Abnormal circulating lipi... |
ORPHA:186 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... |
OMIM:617765 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Tu... |
ORPHA:37042 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 14B, Autosomal Recessive |
|
Polyarticular arthritis, Inflammation of the large intestine, Decreased circulating IgA level, Re... |
OMIM:619281 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph... |
ORPHA:1916 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Recurrent candida infections, Pneumonia |
OMIM:269840 |
Acute Lung Injury |
|
Shock, Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Incre... |
ORPHA:178320 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... |
OMIM:209920 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Recurrent respi... |
OMIM:300988 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma |
OMIM:147050 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... |
OMIM:617241 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... |
OMIM:616576 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Autoimmunity, Decreased circulating IgA level, Lymphadenitis, Dec... |
ORPHA:331206 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... |
OMIM:600903 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosyn... |
OMIM:147060 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Pneumonia, Chronic otitis media, Recurrent viral infections, Onychomycosis, In... |
ORPHA:217390 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Rheumatoid factor ... |
ORPHA:3261 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... |
ORPHA:90283 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Circulating immune compl... |
OMIM:607665 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Short stature, Hypoplasia of the uterus |
OMIM:617690 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent infection... |
OMIM:601457 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, 2-3 toe syndactyly, Sparse eyelashes, Ankyloblepharon, Nail dystrophy, Absent eyelas... |
OMIM:106260 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Increased circulating IgE l... |
OMIM:615767 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... |
OMIM:618969 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Thyroiditis, Recurrent respiratory inf... |
OMIM:619375 |
Thymic Aplasia |
|
Sinusitis, Autoimmunity, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida in... |
ORPHA:83471 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Increased circulating IgA level, Arthritis, Gastrointestinal hemorrhage, Vasculitis,... |
ORPHA:343 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positiv... |
ORPHA:90159 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Short stature, Abnormality of the elbow, Pectus carinatum, Synophrys, Epicanthus, Finger syndacty... |
ORPHA:3268 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM |
OMIM:618987 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Panniculitis, Vasculitis, Increased circulating IgM level, Skin ... |
OMIM:617099 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Eczema, Inflammation of the large intestine, Recurrent herpes, Melena, Decreased circulat... |
OMIM:301000 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Aplasia of the uterus, Absent lacrimal punctum, Toe syndactyly, Hypoplas... |
ORPHA:69085 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Recurrent infections, Decreased circulating total IgM |
OMIM:606445 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Rheumatoid factor positive, Chronic kidney disease, Elevated circul... |
ORPHA:449395 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Systemic lupus erythematosus, Nephritis, Arthritis, Malar rash, An... |
OMIM:152700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Hypouricemia, Recurrent bacterial infections, Recurrent opportunistic infections, Pneu... |
OMIM:613179 |
Boutonneuse Fever |
|
Increased circulating IgG level, Vasculitis, Increased circulating IgM level, Maculopapular exant... |
ORPHA:83313 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... |
OMIM:614878 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Decreased lymphocyte apoptosis, Recurrent infections, Increased circulating antibod... |
OMIM:614470 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections |
OMIM:615214 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Decreased circulating total IgM |
OMIM:610798 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... |
ORPHA:562639 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Hypoxemia, Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal ... |
ORPHA:70578 |
Satoyoshi Syndrome |
|
Short stature, Amenorrhea, Short metatarsal, Alopecia, Genu valgum, Short metacarpal, Alopecia un... |
OMIM:600705 |
Immunoglobulin M, Level Of |
|
Meningitis, Decreased circulating total IgM |
OMIM:308250 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... |
OMIM:307200 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Azoospermia, Sparse body hair, Hypogonadotropic hypogonadism, Hypoplasia of... |
ORPHA:432 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections |
OMIM:233650 |
Agammaglobulinemia 8, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Kennerknecht Syndrome |
|
Toe syndactyly, Omphalocele, Abnormal joint morphology, Short stature, Long eyelashes, Agonadism,... |
OMIM:600908 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Recurrent infections, A... |
OMIM:260920 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Autoimmunity, Eczema, Decreased circulating antibody level, Recurrent infections, Septic arthriti... |
OMIM:617780 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Seckel Syndrome 7 |
|
Abnormality of the carpal bones, Intrauterine growth retardation, Severe short stature, Hip dyspl... |
OMIM:614851 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Craniosynostosis, Joint contracture of the hand, ... |
OMIM:618523 |
Transcobalamin Deficiency |
|
Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... |
ORPHA:859 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Recurrent bacterial infections, Pneumonia, Decreased circulating IgA level, Recurrent ... |
OMIM:102700 |
Moebius Syndrome |
|
Abnormality of the ulna, Ptosis, Aplasia/Hypoplasia of the thumb, Hypogonadotropic hypogonadism, ... |
ORPHA:570 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Autoimmunity, Antinuclear antibody positivity, Decreased serum complement C4, Elevated... |
ORPHA:90060 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Primary amenorrhea, Short stature, Hypergonadotropic hypogonadism |
OMIM:614129 |
Cirrhosis, Familial |
|
Chronic active hepatitis, Increased circulating antibody level, Hepatitis |
OMIM:118900 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Short stature, Absent pubic hair, Brittle hair, Nail dystrophy, Alop... |
OMIM:129500 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:247630 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Glomerulonephritis, Antineutrophil antibody positivity,... |
ORPHA:99931 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating antibody level, Recurrent infections, Skin rash |
OMIM:618048 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating IgA level, ... |
ORPHA:2442 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Recurrent infections, Uveitis, Decreased circulating... |
OMIM:614700 |
Immunodeficiency 52 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent infections, Autoimmune thrombocyt... |
OMIM:617514 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Scarring alopecia of scalp, Co... |
OMIM:308800 |
Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Pneumonia, Increased circulating IgA level, Abnormal circulating lipid concentratio... |
ORPHA:2298 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ... |
OMIM:612843 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Highly arched eyebrow, Amenorrhea, Ptosis, Telecanthus, Sparse pubic hair, Increased... |
OMIM:110100 |
Macrophage Activation Syndrome |
|
Autoimmunity, Increased circulating interleukin 6, Systemic lupus erythematosus, Hepatitis, Incre... |
ORPHA:158061 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Primary amenorrhea, Absent pu... |
OMIM:614841 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Lassa Fever |
|
Shock, Sepsis, Cough, Oliguria, Increased circulating IgM level, Dyspnea, Conjunctivitis |
ORPHA:99824 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Pneumonia, Peritonitis, Decreased serum complement factor B, Meni... |
OMIM:615561 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis |
OMIM:613783 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity |
OMIM:607624 |
Schimke Immuno-Osseous Dysplasia |
|
Autoimmunity, Hyperlipidemia, Recurrent infections, Cerebral ischemia, Shallow acetabular fossae,... |
ORPHA:1830 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... |
ORPHA:70593 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... |
ORPHA:75566 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Developmental cataract, Short stature, Failure to thrive, Blepharitis, D... |
OMIM:616834 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... |
ORPHA:36234 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Renal tubular atrophy, Focal segmental glomerulosclerosis, Sepsis, N... |
OMIM:617303 |
Immunodeficiency 92 |
|
Cholangitis, Pneumonia, BCGosis, Decreased circulating IgA level, Recurrent oral herpes, Decrease... |
OMIM:619652 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Short finger, Disproportionate short-limb short stature, Shor... |
OMIM:609441 |
Hypocomplementemic Urticarial Vasculitis |
|
Autoimmunity, Uveitis, Restrictive ventilatory defect, Emphysema, Conjunctivitis, Skin rash, Glom... |
ORPHA:36412 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease,... |
ORPHA:54370 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Cubitus valgus, Hypoplasia of the ovary, Increased circulat... |
OMIM:615300 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Cough, Exertional dyspnea, Increased circulating antibody level,... |
OMIM:178500 |
Cornelia De Lange Syndrome |
|
Hypospadias, Abnormality of the ulna, Hypoplastic nipples, Short stature, Curly eyelashes, Proxim... |
ORPHA:199 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Increased circulating IgA level, Elevated ci... |
ORPHA:29073 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media |
OMIM:616022 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... |
ORPHA:470 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Severe varicella zoster infectio... |
OMIM:606367 |
Zika Virus Disease |
|
Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Meningitis, Increased circula... |
ORPHA:448237 |
Ovarian Dysgenesis 9 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Primary amenorr... |
OMIM:619665 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen... |
ORPHA:85435 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Lymphoproliferative Syndrome 1 |
|
Autoimmunity, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, ... |
OMIM:613011 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level, Vasculitis in the skin, Skin rash |
ORPHA:90000 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis |
OMIM:615468 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Autoimmunity, Atopic dermatitis, Crackles, Increased circulating IgE level, ... |
ORPHA:2902 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... |
ORPHA:69126 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Joint hemorrhage, Epistaxis, Increased circulating IgE l... |
OMIM:313900 |
Catastrophic Antiphospholipid Syndrome |
|
Myocarditis, Anti-beta 2 glycoprotein I antibody positivity, Abnormality of serum cytokine level,... |
ORPHA:464343 |
Immunodeficiency 43 |
|
Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Recurrent resp... |
OMIM:241600 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Decreased circulating IgG level |
OMIM:618973 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... |
ORPHA:49041 |
Eec Syndrome |
|
Hypospadias, Corneal erosion, Short stature, Aplasia/Hypoplasia of the thumb, Hypoplasia of the t... |
ORPHA:1896 |
Estrogen Resistance |
|
Acne, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:615363 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Alopecia, Anemia, Splenomegaly, Severe... |
OMIM:603554 |
Xeroderma Pigmentosum |
|
Short stature, Ectropion, Failure to thrive, Ankyloblepharon, Conjunctival telangiectasia, Alopec... |
ORPHA:910 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Amed Syndrome, Digenic |
|
Short stature, Failure to thrive, Telecanthus, Long thumb, Hypoplasia of the uterus |
OMIM:619151 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, BCGosis, Hemolytic-uremic syndrome, Pulmonary hemorrhage, Recurrent lower res... |
OMIM:619644 |
Kid Syndrome |
|
Sparse eyelashes, Corneal erosion, Acne inversa, Limbal stem cell deficiency, Postnatal growth re... |
ORPHA:477 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Short stature, Azoospermia, Bicornuate uterus, Abnormal rib mor... |
ORPHA:2578 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... |
OMIM:242860 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Short stature, Elevated circulating follicle stimulating hormone level, Sparse pubic... |
ORPHA:90796 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Azoospermia, Bicornuate uterus, Sprengel anomaly, Hypoplasia of the uterus |
OMIM:601076 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
X-Linked Immunoneurologic Disorder |
|
Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig... |
ORPHA:2571 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Lichtenstein Syndrome |
|
C1-C2 subluxation, Decreased circulating IgA level, Increased susceptibility to fractures, Osteop... |
OMIM:246550 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ... |
OMIM:619203 |
Pauci-Immune Glomerulonephritis |
|
Tubulointerstitial nephritis, Antinuclear antibody positivity, Decreased glomerular filtration ra... |
ORPHA:93126 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Eczema, Polyarticular arthritis, Interstitial pneumonitis, Neutropenia in presence ... |
OMIM:615952 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Eczema, Short stature, External genital hypoplasia, Epicanthus, Postnatal growth retardation, Dec... |
OMIM:612947 |
C3 Glomerulopathy 3 |
|
Hematuria, Glomerulonephritis, Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:614809 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Short stature, Small scrotum, Eunuchoid habitus, Hypogonadi... |
ORPHA:2234 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyelashes, Hypoplastic nipples, Dacryocystitis, Sparse pubic hair, Micropenis, Sparse and ... |
OMIM:604292 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Recurrent infections |
OMIM:615285 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Corneal opacity, Sparse and thin eyebrow, Sparse hair, Blep... |
OMIM:602400 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... |
OMIM:613860 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Mosaic Trisomy 14 |
|
Hypospadias, Ptosis, Failure to thrive, Narrow chest, Abnormal rib morphology, Camptodactyly of f... |
ORPHA:1703 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Papilledema, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Infectious encephalitis, Recurrent infections, Colitis |
OMIM:616098 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia, Alopecia |
OMIM:618282 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limited elbow flexion, Limitation of movement at ankles, Increased circulating IgG level, Limited... |
ORPHA:206594 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... |
ORPHA:723 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Rheumatoid arthritis, Uve... |
ORPHA:85410 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Transient ischemi... |
ORPHA:1304 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Telecanthus, Femal... |
ORPHA:572333 |
Poikiloderma With Neutropenia |
|
Short stature, Recurrent otitis media, Recurrent pneumonia, Blepharitis, Recurrent sinusitis, Con... |
OMIM:604173 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Recurrent respiratory infections, Conjunctivitis, Hypertrophic cardiomyopathy, Mitral reg... |
ORPHA:505248 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyelashes, Hypoplastic nipples, Dacryocystitis, Telecanthus, Sparse pubic hair, Micropenis... |
OMIM:129900 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Blepharitis, A... |
ORPHA:2045 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... |
OMIM:607676 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Eczema, Abnormal hair morphology, Thin eyebrow, Corneal erosion, Abnormal dental ena... |
ORPHA:2273 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pustule, Lack of T cell function, Recurrent op... |
ORPHA:35078 |
Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Prominent eyelashes, Retin... |
OMIM:616651 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... |
ORPHA:540 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve... |
OMIM:300635 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Autoimmunity, Psoriasiform dermatitis, Polyarticular arthritis, Abnormality of the knee, Oligoart... |
ORPHA:85436 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change... |
OMIM:616730 |
Prolidase Deficiency |
|
Diffuse telangiectasia, Eczema, Systemic lupus erythematosus, Recurrent infections, Crusting eryt... |
OMIM:170100 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Pneumonia, Budd-Chiari syndrome, Decreased circulating antibody level, Recurrent... |
OMIM:226300 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... |
ORPHA:79078 |
Mu-Heavy Chain Disease |
|
Bence Jones Proteinuria, Osteoporosis, Increased circulating antibody level, Nephropathy, Osteolysis |
ORPHA:100024 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Sepsis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chron... |
ORPHA:47 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Respiratory failure, ... |
ORPHA:340 |
Thymic Tumor |
|
Autoimmunity, Pericarditis, Cough, Dysgammaglobulinemia, Cardiac arrest, Dyspnea |
ORPHA:100100 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Acrodermatitis Enteropathica |
|
Pustule, Corneal erosion, Short stature, Cheilitis, Failure to thrive, Weight loss, Alopecia, Abn... |
ORPHA:37 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM |
ORPHA:2643 |
Dyskeratosis Congenita |
|
Intrauterine growth retardation, Short stature, Abnormal morphology of female internal genitalia,... |
ORPHA:1775 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Hepatitis, Recurrent... |
ORPHA:33110 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Tularemia |
|
Brain abscess, Pneumonia, Cough, Tachycardia, Respiratory distress, Increased circulating antibod... |
ORPHA:3392 |
Tempi Syndrome |
|
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Increased circulating IgG level, Transudative... |
ORPHA:284227 |
Systemic Sclerosis |
|
Right ventricular failure, Syncope, Myocarditis, Raynaud phenomenon, Intestinal bleeding, Chronic... |
ORPHA:90291 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Intrauterine growth retardation, Abnormal morphology of female internal genitalia, Upslanted palp... |
ORPHA:1797 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Recurrent otitis media, Systemic lupus erythematosus, Hepatitis, Autoimmune thrombo... |
ORPHA:444463 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Gout, Bicornuat... |
OMIM:137920 |
Coccidioidomycosis |
|
Vasospasm, Cerebral ischemia, Pleural empyema, Vasculitis, Unusual CNS infection, Morbilliform ra... |
ORPHA:228123 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... |
OMIM:608957 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Estrogen Resistance Syndrome |
|
Acne, Delayed epiphyseal ossification, Increased circulating gonadotropin level, Primary amenorrh... |
ORPHA:785 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hernia of the abdominal wall, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyly... |
ORPHA:3082 |
Cystic Echinococcosis |
|
Membranous nephropathy, Unusual infection, Renal cyst, Hyperbilirubinemia, Increased circulating ... |
ORPHA:400 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8, Parotitis, Camptodactyly of finger, Elevated circulating C-r... |
OMIM:256040 |
Renpenning Syndrome |
|
Hypospadias, Pectus excavatum, Cachexia, Thin eyebrow, Growth delay, Abnormal hair laboratory exa... |
ORPHA:3242 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Growth delay, Ambiguous genitalia, female, Delayed epiphyseal ossif... |
ORPHA:91 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia |
OMIM:300985 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Increased circulating antibody level, Vasculitis, Nephrotic syndrome |
OMIM:615846 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Prominent eyelashes, Retinal dystrophy, Hepatosplenomegaly, Eosinop... |
ORPHA:353298 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Elevate... |
OMIM:273250 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia |
ORPHA:99965 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Chronic otitis media, Upslanted palpebral fissure, Abnormal clavicle morphology, Amb... |
ORPHA:276422 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... |
OMIM:615633 |
Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Angular cheilitis, Keratitis, Posterior ble... |
OMIM:619016 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Short stature, Premature ovarian insufficiency |
OMIM:619518 |
Q Fever |
|
Myocarditis, Hepatitis, Rheumatoid factor positive, Vasculitis, Maculopapular exanthema, Abnormal... |
ORPHA:781 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow |
OMIM:618092 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Decreased serum complement C4, ... |
ORPHA:231111 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Chromosome 16Q22 Deletion Syndrome |
|
Hypospadias, Highly arched eyebrow, Growth delay, Small for gestational age, Failure to thrive, U... |
OMIM:614541 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Decreased circulating IgG level, Apnea, Recurrent in... |
OMIM:608809 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis, Joint laxity |
ORPHA:2172 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:614868 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM |
OMIM:251190 |
Immunodeficiency 46 |
|
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circulating antib... |
OMIM:616740 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Decreased circulating antibody level, Raynaud phenomenon, Parotitis... |
ORPHA:289390 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity |
ORPHA:90003 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency, Joint laxity |
OMIM:248760 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Cardiac shunt, Membranoproliferative glomerulonephritis |
OMIM:305800 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Eosinophilia, Alopecia, Abnormal lymphocyte morphology, Anemia, Splen... |
ORPHA:39041 |
Inclusion Body Myositis |
|
Elevated circulating creatine kinase concentration, Autoimmunity |
ORPHA:611 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Eczema, Focal segmental glomerulosclerosis, Minima... |
OMIM:618348 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Decreased circulating IgG2 level |
OMIM:300076 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Filippi Syndrome |
|
Intrauterine growth retardation, Hypertrichosis, 2-4 toe syndactyly, Postnatal growth retardation... |
OMIM:272440 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Postnatal growth retardation, Short stature |
OMIM:616113 |
Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Toe syndactyly, Hirsutism, Short stature, Ptosis, Low anterior hairline, T... |
OMIM:300882 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... |
ORPHA:567546 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Alopecia totalis, Blepharitis |
OMIM:300918 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Increased circulating interleukin 6, Inflammation of the large intestine,... |
ORPHA:3243 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Sparse eyelashes, Blepharitis, Sparse body hair |
OMIM:618535 |
Rift Valley Fever |
|
Infectious encephalitis, Hematuria, Hepatitis, Increased circulating IgG level, Melena, Uveitis, ... |
ORPHA:319251 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis medi... |
OMIM:300455 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Autoimmunity, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ... |
ORPHA:79128 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Netherton Syndrome |
|
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Recurrent infections,... |
ORPHA:634 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, Psoriasiform dermatitis, Neonatal respiratory distress, Decreased... |
ORPHA:221139 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Mildly elevated creatin... |
ORPHA:171442 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Abnormal ... |
ORPHA:93267 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Impaired neutrophil bactericidal activity |
OMIM:245480 |
Riddle Syndrome |
|
Telangiectasia, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Conj... |
ORPHA:420741 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Superior rib anomalies, Hypergonadotropic hypogonadism |
OMIM:307500 |
Juberg-Hayward Syndrome |
|
Hypospadias, Highly arched eyebrow, Toe syndactyly, Intrauterine growth retardation, Abnormality ... |
ORPHA:2319 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Recurrent viral infections, Coloni... |
OMIM:618999 |
Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... |
ORPHA:163934 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Chronic pulmonary obstruction, Severe varicella zoster infection, Partial absence of spec... |
OMIM:618986 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... |
OMIM:615207 |
Felty Syndrome |
|
Sinusitis, Autoimmunity, Sepsis, Pericarditis, Episcleritis, Synovitis, Abnormal joint morphology... |
ORPHA:47612 |
Warburg Micro Syndrome 3 |
|
Hypoplastic labia minora, Microcornea, Developmental cataract, Hypertrichosis, Shallow anterior c... |
OMIM:614222 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia |
OMIM:619437 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Autoimmunity,... |
ORPHA:563 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormal morphol... |
ORPHA:2141 |
Lymphatic Filariasis |
|
Wheezing, Ankle swelling, Nephrotic syndrome, Lymphadenitis, Knee osteoarthritis, Epididymitis, H... |
ORPHA:2035 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Intrauterine growth retardation, Disproportionate short-limb short stature, Ambiguous genitalia, ... |
ORPHA:2772 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Chroni... |
OMIM:618108 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Normochromic anemia, C... |
ORPHA:98849 |
Immunodeficiency 49 |
|
Eosinophilia, Hirsutism, Lymphopenia |
OMIM:617237 |
Systemic Lupus Erythematosus 16 |
|
Nephritis, Systemic lupus erythematosus |
OMIM:614420 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Joint hypermobility, Decreased circulating IgG level, Decreased ... |
OMIM:617062 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Abnormality of secondary sexual hair, Male sexual dysfunction, Aplasia of the uterus... |
ORPHA:90797 |
Igg4-Related Thyroid Disease |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr... |
ORPHA:64744 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
Vici Syndrome |
|
Dilated cardiomyopathy, Recurrent bacterial infections, Recurrent fungal infections, Cutaneous an... |
OMIM:242840 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level, Functional abnormality of the bladder, Recurrent respiratory inf... |
DECIPHER:45 |
Aspergillosis |
|
Sinusitis, Hepatitis, Unusual CNS infection, Chronic pulmonary obstruction, Infectious encephalit... |
ORPHA:1163 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
Femoral-Facial Syndrome |
|
Rib fusion, Long penis, Short stature, Upslanted palpebral fissure, Coxa vara, Sprengel anomaly, ... |
ORPHA:1988 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Lichen Planus Pemphigoides |
|
Blepharitis, Conjunctivitis |
ORPHA:254478 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the wrist, Increased circulating IgE level, Abnormality of the elbow |
ORPHA:89843 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Sparse eyelashes, Intrauterine growth retardation, Short stature, Urethral stenosis,... |
OMIM:305000 |
Preeclampsia |
|
Hypertension, Autoimmunity, Elevated diastolic blood pressure, Helicobacter pylori infection, Ele... |
ORPHA:275555 |
Three M Syndrome 1 |
|
Hypospadias, Pectus excavatum, Intrauterine growth retardation, Growth delay, Short stature, Smal... |
OMIM:273750 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Yellow Fever |
|
Shock, Increased circulating interleukin 6, Reduced ejection fraction, Elevated circulating creat... |
ORPHA:99829 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Recurrent infections, Increased... |
OMIM:256500 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Generalized bone demineralization, Nephrotic syndrome, Decreased circulati... |
OMIM:215250 |
Secondary Intestinal Lymphangiectasia |
|
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Autoimmunity, D... |
ORPHA:90363 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating I... |
ORPHA:449432 |
Acquired Partial Lipodystrophy |
|
Autoimmunity, Microscopic hematuria, Decreased serum complement C3, Glomerulopathy, Proteinuria |
ORPHA:79087 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Joint st... |
ORPHA:1345 |
Isolated Agammaglobulinemia |
|
Sinusitis, Autoimmunity, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Men... |
ORPHA:229717 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Recurrent staphyloco... |
ORPHA:2968 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Hypoxemia, Autoimmunity, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasi... |
ORPHA:1303 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|