Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... |
OMIM:615897 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... |
OMIM:613953 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... |
OMIM:308220 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... |
OMIM:601457 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... |
OMIM:269840 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increas... |
ORPHA:98813 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re... |
OMIM:615559 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... |
OMIM:310350 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythrode... |
ORPHA:169160 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... |
OMIM:614372 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... |
OMIM:616022 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Elevated circulati... |
OMIM:619632 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... |
OMIM:619220 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... |
OMIM:609529 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... |
OMIM:608971 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... |
OMIM:226990 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremia, Leukocytosi... |
OMIM:619652 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... |
OMIM:613496 |
Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... |
ORPHA:178320 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... |
OMIM:308230 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... |
OMIM:618048 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci... |
ORPHA:277 |
Immunodeficiency 15A |
|
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... |
OMIM:618204 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... |
ORPHA:70578 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c... |
OMIM:613179 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... |
OMIM:613860 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmunity, Autoimmune thromb... |
OMIM:614470 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, De... |
OMIM:619510 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... |
ORPHA:723 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt... |
ORPHA:3392 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... |
ORPHA:540 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B... |
OMIM:619126 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased response to growth hormo... |
OMIM:615577 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... |
OMIM:619752 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re... |
OMIM:602450 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect... |
OMIM:300635 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eos... |
OMIM:615816 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... |
ORPHA:544482 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... |
ORPHA:444463 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Aspergillosis |
|
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Meningitis, Chronic pulmonary obstruction... |
ORPHA:1163 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... |
OMIM:615207 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... |
OMIM:613101 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis |
OMIM:216950 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Tach... |
OMIM:615934 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... |
OMIM:266265 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Sepsis, Decreased circ... |
OMIM:616740 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Lymphopenia, Recurrent urinary tract infections, Recurrent skin... |
OMIM:620210 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Sepsis, Abnormal blo... |
ORPHA:37042 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... |
ORPHA:1303 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... |
OMIM:308240 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... |
OMIM:300291 |
Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... |
ORPHA:449280 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... |
ORPHA:221139 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio... |
OMIM:615758 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Recurrent infections, Decreased circulating antibody level, Lymphadenopathy, ... |
OMIM:618261 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... |
ORPHA:169090 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... |
OMIM:617744 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening... |
ORPHA:464370 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Increased ... |
OMIM:617021 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte... |
OMIM:615952 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... |
OMIM:259710 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic... |
OMIM:242860 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia, Re... |
OMIM:619164 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Recurrent i... |
OMIM:613652 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Immunodeficiency 40 |
|
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic... |
OMIM:616433 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Decr... |
OMIM:615122 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Crackles, Elevated circulating C-reactive protein concentration, Nonproductive coug... |
ORPHA:2902 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Cholecystitis, Cough, Lupus anticoagulant, Infe... |
ORPHA:781 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... |
ORPHA:449400 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R... |
OMIM:306400 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,... |
OMIM:618116 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... |
OMIM:603585 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo... |
ORPHA:47 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... |
OMIM:611926 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Autoimmune Hepatitis |
|
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... |
ORPHA:2137 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... |
ORPHA:125 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... |
OMIM:608233 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... |
ORPHA:822 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut... |
ORPHA:101096 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop... |
OMIM:610910 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... |
ORPHA:85436 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Diffuse Alveolar Hemorrhage |
|
Rheumatoid factor positive, Decreased circulating complement C4 concentration, Cough, Irregular s... |
ORPHA:90060 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... |
ORPHA:264675 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... |
ORPHA:99867 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Bronchitis, Recurrent viral infections, Elevated circulat... |
ORPHA:420741 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... |
OMIM:619381 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Lymphaden... |
ORPHA:39041 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat... |
ORPHA:83313 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Liver abscess... |
ORPHA:31202 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre... |
ORPHA:329918 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Splenomegaly, Dyspnea, Meningitis, Uveitis, Restrictive ventilatory defe... |
ORPHA:36412 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Recurrent cand... |
ORPHA:48435 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... |
OMIM:300972 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... |
OMIM:612541 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia |
OMIM:182410 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:612260 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... |
ORPHA:36234 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Bronchitis, Elevated circulating C-reactive protein co... |
ORPHA:1304 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Recurrent viral i... |
OMIM:242840 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growth hor... |
ORPHA:293978 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis |
ORPHA:79303 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... |
ORPHA:811 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... |
ORPHA:167 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Skin rash, Pneumonia, Decreased circu... |
ORPHA:2298 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A... |
OMIM:617053 |
Immunodeficiency 77 |
|
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... |
OMIM:619223 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level, Decreased circulating total I... |
ORPHA:90362 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch... |
ORPHA:391487 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Elevated circulati... |
OMIM:208900 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respi... |
OMIM:620296 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypere... |
OMIM:615387 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... |
ORPHA:1855 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoim... |
ORPHA:227990 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent i... |
OMIM:617591 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Recurrent bacterial ... |
OMIM:603903 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoim... |
ORPHA:227982 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib... |
OMIM:248500 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ... |
OMIM:614162 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase anti... |
ORPHA:64744 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasi... |
OMIM:612387 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Autoimmunity, Reduced forced expiratory volume in... |
OMIM:613385 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Elevate... |
ORPHA:79126 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections |
OMIM:618648 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... |
ORPHA:228123 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Autoimmunity, Increased circulating ... |
ORPHA:449432 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Tub... |
ORPHA:139402 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Autoimmunity, Respiratory tract infection,... |
ORPHA:79128 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Autoimmunity, Decreased prealbumin level, Reduced circulating t... |
ORPHA:90363 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis |
ORPHA:309288 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
ORPHA:91139 |
Intrahepatic Cholestasis Of Pregnancy |
|
Neonatal respiratory distress, Skin rash, Autoimmunity, Abnormal circulating interleukin concentr... |
ORPHA:69665 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... |
ORPHA:31204 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Dyspnea, Atelectasis, C... |
ORPHA:2357 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... |
ORPHA:100026 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Recurrent bacterial infections, Inflammation o... |
OMIM:615895 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... |
OMIM:251260 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Colitis, ... |
OMIM:301220 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... |
ORPHA:2552 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... |
ORPHA:533 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pne... |
OMIM:607143 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic seizures, Decrea... |
OMIM:612301 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegal... |
OMIM:615846 |
Timothy Syndrome |
|
Pneumonia, Bronchitis, Recurrent infections, Hypocalcemia, Pulmonary arterial hypertension |
OMIM:601005 |
Shigellosis |
|
Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Sepsi... |
ORPHA:810 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect... |
OMIM:210900 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar... |
OMIM:620233 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Thrombocytopenia, Intraalveolar phospholipid accumulation, Respiratory insuff... |
ORPHA:470 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Decreased circulating antibody lev... |
ORPHA:79330 |
Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Decreased... |
OMIM:620040 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... |
OMIM:181000 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl... |
ORPHA:340 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Chromomycosis |
|
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections |
ORPHA:182 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent... |
OMIM:613327 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Abno... |
ORPHA:449563 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Acute respiratory distress syndrome, Severe B lymphocytopenia, Thr... |
OMIM:620005 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ... |
ORPHA:171 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, Hy... |
OMIM:212750 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Neutrope... |
OMIM:232220 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Increased ... |
ORPHA:297 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... |
ORPHA:508533 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Sepsis, Normochromic anemia |
ORPHA:247691 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscula... |
OMIM:127550 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Elevat... |
ORPHA:26793 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Asthma, Decreased circulating IgA level |
ORPHA:457485 |
Myotonic Dystrophy 2 |
|
Elevated circulating follicle stimulating hormone level, Decreased circulating total IgM, Decreas... |
OMIM:602668 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Epistaxis, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recurrent b... |
ORPHA:79259 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, Pneumonia |
ORPHA:1867 |
Gaucher Disease, Type Ii |
|
Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm... |
OMIM:230900 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Asthma, Decreased circulating total IgM, Annular pancreas |
OMIM:618162 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... |
ORPHA:431361 |
Rift Valley Fever |
|
Skin rash, Thrombocytopenia, Hepatitis, Uveitis, Increased circulating IgG level, Increased circu... |
ORPHA:319251 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormality of cytokine secretion, A... |
ORPHA:567983 |
Acute Radiation Syndrome |
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Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Dubowitz Syndrome |
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Aplastic anemia, Eczema, Cryptorchidism, Recurrent infections, Acute lymphoblastic leukemia, Otit... |
OMIM:223370 |
Neuroleptic Malignant Syndrome |
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Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosi... |
ORPHA:94093 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Neonatal sepsis, Hyponatremia, Adrenal hyperplasia, Pneumonia, Hyperkalemia, Macroorchidism |
ORPHA:90790 |
Roifman-Chitayat Syndrome |
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Arthritis, Pneumonia |
OMIM:613328 |
Congenital Disorder Of Glycosylation, Type Ia |
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Pericarditis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Decreased circulating IgG lev... |
OMIM:212065 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Crimean-Congo Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... |
ORPHA:99827 |
Gm1 Gangliosidosis |
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Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... |
ORPHA:354 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections |
ORPHA:2176 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Aspiration pneumonia, Cough |
ORPHA:216866 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Smooth mus... |
ORPHA:1018 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... |
ORPHA:79404 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated... |
OMIM:619991 |
Amoebiasis Due To Free-Living Amoebae |
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Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, In... |
ORPHA:68 |
Alpha-Mannosidosis, Infantile Form |
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Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... |
ORPHA:309282 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Proximal Spinal Muscular Atrophy |
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Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Infantile Neuroaxonal Dystrophy |
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Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Abnormal lung lobation, Decreased circul... |
ORPHA:369837 |
Mercury Poisoning |
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Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Hypokalemia |
ORPHA:330021 |
Cholera |
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Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... |
ORPHA:173 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Respiratory distress, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocyt... |
ORPHA:83617 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
Chops Syndrome |
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Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal... |
OMIM:616368 |
Lissencephaly Due To Lis1 Mutation |
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Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
Degcags Syndrome |
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Pancytopenia, Recurrent urinary tract infections, Pneumonia, Congenital hypoplastic anemia, Crypt... |
OMIM:619488 |
Monosomy 18Q |
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Bilateral cryptorchidism, Secondary growth hormone deficiency, Decreased circulating IgA level |
ORPHA:1600 |
Mucopolysaccharidosis, Type Vi |
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Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... |
OMIM:253200 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Okur-Chung Neurodevelopmental Syndrome |
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Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
X-Linked Dystonia-Parkinsonism |
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Aspiration pneumonia |
ORPHA:53351 |
Tay-Sachs Disease |
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Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Cornelia De Lange Syndrome 1 |
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Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Thrombocytopenia |
OMIM:122470 |
Mucopolysaccharidosis Type 3 |
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Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli... |
ORPHA:581 |
Geleophysic Dysplasia 3 |
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Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Plague |
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Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Ente... |
ORPHA:707 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
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Aspiration pneumonia |
OMIM:619167 |
Gm1 Gangliosidosis Type 1 |
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Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Marshall-Smith Syndrome |
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Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... |
OMIM:602535 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Aspiration pneumonia |
OMIM:616430 |
Congenital Fiber-Type Disproportion Myopathy |
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Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Abscess, Recurrent Staphylococcus aureus infections, Septic arthritis, ... |
ORPHA:642 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Recurrent urinary tract infections, Aspiration pneumonia |
ORPHA:99027 |
Coffin-Siris Syndrome |
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Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent inf... |
ORPHA:1465 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... |
ORPHA:353281 |
Wiedemann-Rautenstrauch Syndrome |
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Recurrent respiratory infections, Hypertriglyceridemia, Pneumonia, Cryptorchidism, Hypoplasia of ... |
OMIM:264090 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Niemann-Pick Disease Type C |
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Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... |
ORPHA:646 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Decreased response to growth hormone stimulation test, Asthma, Aspiration pneumonia, Tracheomalac... |
ORPHA:444077 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... |
ORPHA:353277 |
Viss Syndrome |
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Chronic gastritis, Eczema, Dyspnea, Asthma, Increased circulating IgE level, Pneumothorax, Atopic... |
OMIM:619472 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Cryptorchidism, Abnormalit... |
ORPHA:438213 |
Semilobar Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... |
ORPHA:93924 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Recurrent otitis media, Recu... |
OMIM:147920 |
Doors Syndrome |
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Respiratory distress, Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia |
ORPHA:79500 |
Pmm2-Cdg |
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Respiratory distress, Pericarditis, Elevated circulating growth hormone concentration, Reduced th... |
ORPHA:79318 |
Yunis-Varon Syndrome |
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Absent nipple, Cryptorchidism, Hypoplastic nipples, Aspiration pneumonia, Pulmonary arterial hype... |
OMIM:216340 |