Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Immunodeficiency 53 |
|
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections |
OMIM:617585 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia |
OMIM:617638 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... |
OMIM:613953 |
Pulmonary Alveolar Proteinosis, Acquired |
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Brain abscess, Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory... |
OMIM:610910 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... |
OMIM:614370 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... |
OMIM:615897 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... |
OMIM:312863 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
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Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... |
OMIM:300770 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... |
OMIM:300988 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Agammaglobulinemia, Neutropenia, Pn... |
OMIM:601495 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent candida infec... |
OMIM:269840 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... |
OMIM:618806 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecific interstitial pn... |
OMIM:610921 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Chronic ... |
OMIM:613502 |
Immunodeficiency 32B |
|
Sinusitis, Pneumonia, Bronchiectasis, Recurrent infections, Splenomegaly, Recurrent respiratory i... |
OMIM:226990 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... |
OMIM:601457 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Eczema, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent i... |
OMIM:608971 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... |
OMIM:265120 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive sec... |
ORPHA:169160 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... |
ORPHA:217390 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... |
OMIM:300853 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... |
OMIM:615513 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... |
OMIM:619220 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis |
OMIM:618459 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... |
OMIM:616576 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Conjunctivitis |
ORPHA:26137 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... |
OMIM:617514 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Caspase 8 Deficiency |
|
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... |
OMIM:607271 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent otiti... |
OMIM:615518 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Pneumonia, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... |
OMIM:608184 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... |
OMIM:618781 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Cough, Abnormal circulating protein concentration, Dec... |
ORPHA:747 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Chronic bronchitis, Bronchiectasis |
OMIM:613021 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Immunodeficiency 20 |
|
Wheezing, BCGitis, Severe varicella zoster infection, Recurrent viral upper respiratory tract inf... |
OMIM:615707 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis |
OMIM:130700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, Severe varicella zoster infection, Neutropenia, Chronic bronchitis, Hepatosplenomegaly, P... |
OMIM:618986 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Decreased circulating antibody level, Recurrent infections, Pneumonia |
OMIM:614069 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia, Recurrent infections |
OMIM:617014 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Chroni... |
OMIM:615294 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... |
ORPHA:60033 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... |
OMIM:193670 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... |
ORPHA:1303 |
Ciliary Dyskinesia, Primary, 9 |
|
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... |
OMIM:612444 |
Mounier-Kühn Syndrome |
|
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Idiopathic Achalasia |
|
Wheezing, Decreased prealbumin level, Recurrent aspiration pneumonia, Cough, Bronchitis |
ORPHA:930 |
Ciliary Dyskinesia, Primary, 27 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615504 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent otitis medi... |
OMIM:616726 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Bronchiectasis, Hepatosplenomegaly, Recurr... |
OMIM:619126 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic ... |
OMIM:618282 |
Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... |
OMIM:615451 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... |
OMIM:242700 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... |
ORPHA:1164 |
Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... |
ORPHA:83471 |
Interstitial Lung And Liver Disease |
|
Hypoxemia, Thrombocytosis, Respiratory insufficiency, Anemia, Cough, Abnormal pulmonary interstit... |
OMIM:615486 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
Immunodeficiency 7 |
|
Hypereosinophilia |
OMIM:615387 |
Scedosporiosis |
|
Sinusitis, Sepsis, Abnormal respiratory system physiology, Fungal meningitis, Pleuritis, Septic a... |
ORPHA:449280 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infection... |
OMIM:614493 |
Ciliary Dyskinesia, Primary, 46 |
|
Ciliary dyskinesia, Bronchiectasis, Reduced forced expiratory volume in one second, Recurrent oti... |
OMIM:619436 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis |
OMIM:279000 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Isolated Agammaglobulinemia |
|
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morpholo... |
ORPHA:229717 |
Ciliary Dyskinesia, Primary, 39 |
|
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... |
OMIM:618254 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... |
ORPHA:911 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... |
ORPHA:572 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... |
OMIM:266265 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... |
ORPHA:723 |
Ciliary Dyskinesia, Primary, 28 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615505 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Atopic dermatitis, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... |
OMIM:240500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... |
OMIM:150550 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... |
OMIM:615285 |
Slc35A1-Cdg |
|
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Respiratory distress, Abnormal platelet ... |
ORPHA:238459 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Anxiety, Eosinophilia |
OMIM:618092 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Cholesterol Pneumonia |
|
Tachypnea, Cough, Pneumonia |
OMIM:215030 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Neutropen... |
ORPHA:331235 |
Cystic Disease Of Lung |
|
Spontaneous neonatal pneumothorax, Recurrent infections, Multiple pulmonary cysts |
OMIM:219600 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... |
OMIM:618394 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... |
OMIM:608644 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... |
OMIM:307200 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Recurrent sinusitis, Impaired nasal mucociliary clearance, Bronchiectasis |
OMIM:618449 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Erythroderma, Pneumonia, Recurrent fungal infe... |
OMIM:603554 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... |
ORPHA:231154 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... |
OMIM:614700 |
Ciliary Dyskinesia, Primary, 5 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Rhinitis, Respiratory insuff... |
OMIM:608647 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... |
OMIM:137100 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan... |
OMIM:209920 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Candidiasis, Familial, 2 |
|
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... |
OMIM:212050 |
Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Leukopenia, Anemia, Pulmonary hemorrhage, Pancreatitis, Splenomegaly, ... |
OMIM:222700 |
Halothane Hepatitis |
|
Eosinophilia |
OMIM:234350 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Neutrop... |
OMIM:613179 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... |
OMIM:615207 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... |
OMIM:300991 |
Aspergillosis |
|
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Unusual CNS infection, Eosinophilia, Chronic pulmon... |
ORPHA:1163 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Increased circulating ant... |
OMIM:614470 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Decreased circulating Ig... |
OMIM:102700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Decreas... |
OMIM:616100 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Bronchiolitis, Emp... |
OMIM:604571 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Sepsis, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural e... |
ORPHA:36238 |
Neonatal Alloimmune Neutropenia |
|
Sepsis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Severe infec... |
ORPHA:464370 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... |
OMIM:209950 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... |
OMIM:618534 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... |
ORPHA:169154 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Chronic otitis media, Respiratory distress, Abnormal mucociliary clearance, Recur... |
OMIM:619466 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Enteroviral dermat... |
OMIM:300755 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... |
ORPHA:33110 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... |
OMIM:616005 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis |
OMIM:618648 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis |
OMIM:615481 |
Tularemia |
|
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Meningitis, Increased circulating antibody... |
ORPHA:3392 |
Immunodeficiency 25 |
|
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... |
OMIM:610163 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... |
OMIM:300635 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... |
ORPHA:2032 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Nontuberculous mycobacterial pulmonary infection, ... |
OMIM:619223 |
Ciliary Dyskinesia, Primary, 26 |
|
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... |
OMIM:615500 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
Melioidosis |
|
Brain abscess, Abnormality of the spleen, Sepsis, Splenic abscess, Lung abscess, Unusual skin inf... |
ORPHA:31202 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... |
OMIM:612649 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Pulmonary hemorrhage, Arthriti... |
OMIM:616414 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... |
OMIM:618523 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Chronic rhinitis, Recurrent respiratory infections, Bronchiectasis |
OMIM:618801 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... |
ORPHA:922 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... |
ORPHA:3348 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lympha... |
ORPHA:51636 |
Immunodeficiency 37 |
|
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... |
OMIM:616098 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Elevated carcinoembryonic antigen le... |
ORPHA:264675 |
Ciliary Dyskinesia, Primary, 7 |
|
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... |
OMIM:611884 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... |
ORPHA:169090 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... |
OMIM:615482 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Pleuritis, Recurrent infections, Splenomega... |
ORPHA:47612 |
Pgm3-Cdg |
|
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... |
ORPHA:443811 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Ciliary Dyskinesia, Primary, 15 |
|
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 35 |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respiratory infections |
OMIM:617092 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Megaloblastic an... |
OMIM:617780 |
Ciliary Dyskinesia, Primary, 43 |
|
Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chronic sinusi... |
OMIM:618699 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Ciliary Dyskinesia, Primary, 14 |
|
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613807 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Aplasia of the thymus, Recurrent upper respiratory tract infections, Otitis media, Pan... |
OMIM:602450 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... |
OMIM:614878 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Decreased ... |
OMIM:617091 |
Fusariosis |
|
Brain abscess, Sinusitis, Neutropenia, Fasciitis, Maculopapular exanthema, Unusual CNS infection,... |
ORPHA:228119 |
Common Variable Immunodeficiency |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Decreased circulating anti... |
ORPHA:1572 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Respiratory insufficiency, Leukopenia, Membranous nephropathy, Anem... |
ORPHA:470 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Cough, Respiratory failure, Dyspnea, Respirat... |
ORPHA:90117 |
Ciliary Dyskinesia, Primary, 12 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... |
OMIM:612650 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Sepsis, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respirator... |
ORPHA:70587 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia |
ORPHA:97244 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Ciliary Dyskinesia, Primary, 16 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ab... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... |
OMIM:616037 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Acute Lung Injury |
|
Sepsis, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mo... |
ORPHA:178320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Ciliary Dyskinesia, Primary, 22 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615444 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent aspiration pneumonia, Recurrent ear infections, Recurrent viral infections, Anemia, Pul... |
ORPHA:79124 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce... |
OMIM:242860 |
Cinca Syndrome |
|
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia |
OMIM:607115 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... |
OMIM:615952 |
Immunodeficiency 58 |
|
Eczema, Chronic bronchitis, Chronic otitis media, Decreased circulating antibody level, Recurrent... |
OMIM:618131 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal absce... |
OMIM:618935 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
Ciliary Dyskinesia, Primary, 13 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media |
OMIM:613193 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Stomatitis, Decreased circulating IgA level,... |
OMIM:308230 |
Panbronchiolitis, Diffuse |
|
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Rhonchi, Cough |
OMIM:604809 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia |
OMIM:147060 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Bronc... |
OMIM:619446 |
Avian Influenza |
|
Productive cough, Sepsis, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, P... |
ORPHA:454836 |
Ciliary Dyskinesia, Primary, 19 |
|
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due t... |
OMIM:614935 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
Poikiloderma With Neutropenia |
|
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... |
OMIM:604173 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Sepsis, Myocarditis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... |
ORPHA:36234 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent staphylococcal infections, Impaired platelet aggregation, Conjunctiv... |
ORPHA:2968 |
Ciliary Dyskinesia, Primary, 17 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respira... |
OMIM:614679 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233710 |
Immunodeficiency 23 |
|
Eczema, Severe varicella zoster infection, Neutropenia, Allergic rhinitis, Bronchiectasis, Absces... |
OMIM:615816 |
Good Syndrome |
|
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Recurrent urinary... |
ORPHA:169105 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Punctate keratitis, Splenomegaly, Hypereosinophilia, Corneal neovascu... |
OMIM:617388 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Bronchiectasis, Chronic otitis media, Rhinitis, Chronic sinusitis,... |
OMIM:618063 |
Roifman Syndrome |
|
Hepatosplenomegaly, Eosinophilia |
ORPHA:353298 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutro... |
ORPHA:37042 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... |
OMIM:233690 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Pulmonary edema, Respirator... |
ORPHA:70578 |
Omenn Syndrome |
|
Leukocytosis, Sepsis, Erythroderma, Pneumonia, Abnormal lymphocyte morphology, Anemia, Splenomega... |
ORPHA:39041 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Recurrent bronchitis, Chronic otitis media, Chronic rhinitis, Bronchiectasis, Chronic ... |
OMIM:244400 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis |
OMIM:241600 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... |
OMIM:304790 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Reduced hematocrit, Crackles, Bronchiectasi... |
ORPHA:79126 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent herpes, Decreased circ... |
ORPHA:125 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Nocardiosis |
|
Brain abscess, Sepsis, Pleuritis, Unusual CNS infection, Respiratory failure, Emphysema, Conjunct... |
ORPHA:31204 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Corneal neovas... |
OMIM:158310 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia |
OMIM:618999 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Epistaxis, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytope... |
ORPHA:88 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Bronchogenic Cyst |
|
Chronic infection, Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cys... |
ORPHA:2357 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Otitis media, Immotile cilia... |
OMIM:606763 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Stomatitis |
OMIM:618307 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Pneumonia, Iron deficiency anemia, Decreased circulating antibody level, Recurren... |
OMIM:226300 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Emphysema |
ORPHA:60 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
Q Fever |
|
Myocarditis, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthema, Infectious enc... |
ORPHA:781 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Asplenia, Br... |
ORPHA:244 |
Timothy Syndrome |
|
Recurrent infections, Pneumonia, Bronchitis |
OMIM:601005 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infe... |
ORPHA:420741 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Erythroderma, Tubulointerstitial nephritis, Interstitial pneumonitis, ... |
ORPHA:139402 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Netherton Syndrome |
|
Eczema, Erythroderma, Decreased circulating antibody level, Recurrent infections, Increased circu... |
ORPHA:634 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Episcleritis, Arthritis, Cough, Splenomegaly, Meningitis, Uveitis... |
ORPHA:36412 |
Angiostrongyliasis |
|
Hypereosinophilia, Irritability |
ORPHA:74 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Sepsis, Eczema, Neutropenia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Oste... |
ORPHA:811 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Recurrent infec... |
ORPHA:39812 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Sepsis, Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Recurrent viral infections... |
ORPHA:293978 |
Scleroderma |
|
Anxiety, Hypereosinophilia, Depression, Keratitis |
ORPHA:801 |
Gaucher Disease, Type Ii |
|
Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Subpleural interstitial thickening, Eczema, Hypoxemia, Keratoconjunctivitis sicca, Crac... |
ORPHA:79128 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Cough, Bronchiectasis |
OMIM:619468 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Recurrent infections, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis |
ORPHA:309288 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Pneumonia |
OMIM:300209 |
Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... |
ORPHA:662 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Inflammatory abnormality of the ... |
ORPHA:48435 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... |
ORPHA:70588 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Sporadic Creutzfeldt-Jakob Disease |
|
Sepsis, Respiratory failure requiring assisted ventilation, Recurrent infections, Recurrent aspir... |
ORPHA:204 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Chronic rhinitis, Rhinorrhea, Bronchiectasis |
OMIM:617577 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Bronchitis, Live... |
ORPHA:1304 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Microsporidiosis |
|
Brain abscess, Sepsis, Sinusitis, Myocarditis, Cholangitis, Hepatitis, Bronchitis, Infectious enc... |
ORPHA:2552 |
Listeriosis |
|
Brain abscess, Sepsis, Myocarditis, Septic arthritis, Unusual CNS infection, Respiratory failure,... |
ORPHA:533 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Psoriasiform dermatitis, Neonatal respiratory ... |
ORPHA:221139 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia |
OMIM:617425 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating ... |
OMIM:619381 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Epi... |
OMIM:608710 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abscess, Eosinophilia, Splenic cyst |
ORPHA:400 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Hypophosphatasia |
|
Emphysema, Anemia, Respiratory insufficiency |
ORPHA:436 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Pneumonia, Recurrent otitis media, Autoimmune thrombocytopenia, Rheumatoid arthritis... |
OMIM:607944 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... |
ORPHA:2590 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia, Cataract, Keratitis |
OMIM:308300 |
Coccidioidomycosis |
|
Pleural empyema, Unusual CNS infection, Eosinophilia, Morbilliform rash, Pericarditis, Folliculit... |
ORPHA:228123 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema |
OMIM:123700 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Incontinentia Pigmenti |
|
Eosinophilia, Corneal opacity, Cataract, Keratitis |
ORPHA:464 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Recurre... |
ORPHA:391487 |
Sarcoidosis, Susceptibility To, 1 |
|
Restrictive ventilatory defect, Hypoxemia, Inflammation of the large intestine, Bronchiectasis, P... |
OMIM:181000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... |
ORPHA:508533 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... |
OMIM:617053 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Eosinophilia, Normocytic anemia |
ORPHA:199299 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Pneumonia, Hepatitis, Recurrent infections, Arthritis, Autoimmune thrombocytopenia,... |
ORPHA:1855 |
Shigellosis |
|
Myocarditis, Leukocytosis, Sepsis, Splenic abscess, Microangiopathic hemolytic anemia, Pneumonia,... |
ORPHA:810 |
Cryptococcosis |
|
Sepsis, Pneumonia, Prostatitis, Peritonitis, Lymphoid leukemia, Cough, Osteomyelitis, Meningitis,... |
ORPHA:1546 |
Ataxia-Telangiectasia |
|
Sinusitis, Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell diff... |
OMIM:208900 |
Oculopharyngodistal Myopathy |
|
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Recurrent aspir... |
ORPHA:98897 |
Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Sinusitis, Recurrent bronch... |
OMIM:251260 |
Alveolar Echinococcosis |
|
Anemia, Abnormal spleen morphology, Eosinophilia, Cutaneous abscess, Liver abscess |
ORPHA:284 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
Zygomycosis |
|
Brain abscess, Sinusitis, Myocarditis, Neutropenia, Fasciitis, Hepatitis, Gastritis, Infectious e... |
ORPHA:73263 |
Bronchial Neuroendocrine Tumor |
|
Wheezing, Pneumonia, Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Nonproduct... |
ORPHA:97287 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Anemia, Bone marrow hypocellularity, Lymphopenia, Pulmonary fibrosis, T... |
OMIM:127550 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia |
OMIM:274000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Myocarditis, Pneumonia, Acute colitis, Pleuritis, Pancreatitis, Sept... |
ORPHA:544482 |
Bloom Syndrome |
|
Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Recur... |
OMIM:210900 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Sepsis, Normocytic anemia, Pneumonia, Normochromic anemia, Skin rash |
ORPHA:247691 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Eosinophilia, Increased circul... |
ORPHA:449395 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Igg4-Related Pachymeningitis |
|
Eosinophilia |
ORPHA:449427 |
Pulmonary Alveolar Microlithiasis |
|
Subpleural interstitial thickening, Restrictive ventilatory defect, Increased circulating surfact... |
ORPHA:60025 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Recurrent infections, Recurrent aspiration pneumonia |
ORPHA:79243 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Respiratory insufficiency, Pneumonia |
ORPHA:2135 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia, Central sleep apnea |
ORPHA:431361 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Recurrent respiratory infections, Abnormal respiratory system physiology, Pn... |
ORPHA:98905 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, A... |
ORPHA:99104 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Hypoproteinemia, Pneumonia, Elevated circulating creatine k... |
ORPHA:26793 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia |
ORPHA:216866 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Tubulointerstitial nephritis, Pneumonia, Glomerulonephritis, Epistaxis, Anemia, Cou... |
ORPHA:340 |
Cushing Disease |
|
Leukocytosis, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Depression, Decre... |
ORPHA:96253 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Leukopenia, Increased circulating IgA level, Nephritis, Increased circulating IgG leve... |
ORPHA:2298 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Sarcoidosis |
|
Keratoconjunctivitis sicca, Leukopenia, Increased T cell count, Anemia, Cataract, Abnormal conjun... |
ORPHA:797 |
Tenorio Syndrome |
|
Keratoconjunctivitis sicca, Apnea, Pneumonia, Stomatitis |
OMIM:616260 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Keratitis |
ORPHA:449563 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia, Pulmonary arterial hypertension, Breathing dysregulati... |
ORPHA:99103 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Dyspnea, Sleep apnea, Pneumonia |
OMIM:617809 |
Gm1 Gangliosidosis |
|
Infectious encephalitis, Splenomegaly, Hepatosplenomegaly, Recurrent respiratory infections, Aspi... |
ORPHA:354 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Severe infecti... |
ORPHA:79138 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... |
ORPHA:70 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumonia, Pustule, Increased red blo... |
ORPHA:68 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Decreased forced expiratory flow ... |
OMIM:219700 |
Mercury Poisoning |
|
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis |
ORPHA:330021 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Sepsis, Stridor, Pyoderma, Pneumonia, Pneumothorax, Anemia, Recurrent urinary tract infections, R... |
ORPHA:79404 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Neutropenia, Bronchiectasis, Anemia, Recurrent infections, Acute myeloid leukemia |
OMIM:601347 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pneumothorax, Pyelonephritis, Re... |
ORPHA:90349 |
Chops Syndrome |
|
Chronic lung disease, Aspiration pneumonia |
OMIM:616368 |
Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Recurrent infections, Recurrent urinary tract infections, Hepatosplenomegaly, Otitis m... |
ORPHA:309282 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Cough, Keratitis, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Dyspnea, Asp... |
ORPHA:1018 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Recurrent bronchopulmonary infections, Megaloblastic anemia, Gastritis, Recurrent pneumonia, Emph... |
OMIM:219721 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Restrictive ventilatory defect, Dyspnea, Rec... |
ORPHA:538 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Neonatal sepsis |
ORPHA:90790 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Sepsis, Keratoconjunctivitis sicca, Neutropenia, Pneumonia,... |
ORPHA:95455 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Keutel Syndrome |
|
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Recurrent otitis media, Pu... |
OMIM:245150 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Sepsis, Thrombocytosis, Pulmonary embolism, Thrombocytopenia, Aspiration pneumonia |
ORPHA:94093 |
Goodpasture Syndrome |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... |
OMIM:233450 |
Degcags Syndrome |
|
Leukopenia, Pneumonia, Iron deficiency anemia, Rhinitis, Congenital hypoplastic anemia, Pulmonary... |
OMIM:619488 |
Plague |
|
Sepsis, Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped lip, Arthritis,... |
ORPHA:707 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Anxiety, Depressi... |
ORPHA:99889 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Mucopolysaccharidosis Type 3 |
|
Obstructive sleep apnea, Chronic otitis media, Recurrent sinopulmonary infections, Splenomegaly, ... |
ORPHA:581 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Loeys-Dietz Syndrome 4 |
|
Eosinophilic infiltration of the esophagus, Pneumothorax, Emphysema |
OMIM:614816 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Pulmonary edema, Recurrent pneumonia... |
ORPHA:980 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Splenomegaly |
ORPHA:75565 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary artery stenosis, Tracheomalacia, Emphysema, Pulmonary hypoplasia |
OMIM:613177 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... |
ORPHA:2020 |
Cholera |
|
Tachypnea, Hyperventilation, Aspiration pneumonia |
ORPHA:173 |
Viss Syndrome |
|
Hypereosinophilia |
OMIM:619472 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia, Otitis media, Pneumonia |
OMIM:122470 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Emphysema, Tracheobronchomalacia |
OMIM:616835 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Tachypnea, Anemia, Cough, Recurrent urinary tract infections, Respirat... |
OMIM:613658 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Tachypnea, Apnea, Chronic lung disease, Recurrent respiratory inf... |
ORPHA:397715 |
Chronic Graft Versus Host Disease |
|
Bronchiolitis obliterans, Wheezing, Keratoconjunctivitis sicca, Urinary bladder inflammation, Bro... |
ORPHA:99921 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Aspiration pneumonia |
ORPHA:79255 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pneumothorax, Pulmonary bleb, Anemia, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Repea... |
OMIM:130050 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Aspiration pneumonia |
ORPHA:99027 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent infections, Aspiration pneumonia |
ORPHA:1465 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia |
ORPHA:845 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:73230 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent aspiration pneumonia, Obstructive sleep apnea, Pulmonary arterial hypertension |
OMIM:602535 |
Ellis Van Creveld Syndrome |
|
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Abnormal lun... |
ORPHA:646 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent aspiration pneumonia, Abscess, Fasciitis, Anemia, Septic arthritis, Osteomyelitis, Toot... |
ORPHA:642 |
Fabry Disease |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Anemia, Arthritis, Dyspnea, Emphysema |
ORPHA:324 |
Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Bronchiectasis, Pyelonephritis, Bronchiolitis, Emphysema |
ORPHA:90348 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Obstructive sleep apnea, Pneumonia, Recurrent urinary tract infections, Otitis media, Asthma, Rec... |
ORPHA:353281 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Miller-Dieker Lissencephaly Syndrome |
|
Recurrent aspiration pneumonia |
OMIM:247200 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Asthma, Sleep apnea, Chronic lung disease, Tracheomalacia, Aspir... |
ORPHA:444077 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Pulmonary arterial hyperten... |
ORPHA:280633 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Hypoxemia, Emphysema |