Immunodeficiency 11 |
|
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Asthma, Eosinophilia, Pneumonia |
OMIM:617638 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... |
OMIM:618695 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Chron... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... |
OMIM:247800 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... |
ORPHA:1303 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis |
ORPHA:930 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Decreased circulating antibody level, Neutropenia, Recurrent respiratory inf... |
OMIM:300988 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence of CD8-positive... |
OMIM:269840 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, C... |
OMIM:615505 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Immunodeficiency 104 |
|
Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candidiasis, Pneumon... |
OMIM:608971 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Re... |
OMIM:612649 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respirat... |
OMIM:613501 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Chronic bronchitis, Abnormal axonemal organization of respiratory motile ... |
OMIM:613808 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, B lymphocytopenia, T lymphocytopenia, Arthritis, Panhypogammaglo... |
OMIM:601457 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal resp... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Cholesterol Pneumonia |
|
Cough, Pneumonia, Tachypnea |
OMIM:215030 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... |
OMIM:615067 |
Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... |
OMIM:279000 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Neonatal respiratory dis... |
OMIM:617091 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... |
OMIM:613490 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615504 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Otitis media, Absent inner dynein arms, Abnormal axonemal organization of res... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... |
OMIM:617092 |
Acute Lung Injury |
|
Respiratory distress, Abnormality of tumor necrosis factor secretion, Increased circulating inter... |
ORPHA:178320 |
Mounier-Kühn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections |
ORPHA:3347 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... |
OMIM:612650 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... |
OMIM:619611 |
Pneumocystosis |
|
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... |
ORPHA:723 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... |
ORPHA:922 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia |
OMIM:616022 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren... |
OMIM:613193 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restric... |
OMIM:610910 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:613502 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Elevated carcinoembryonic antigen level, Ac... |
ORPHA:264675 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... |
OMIM:616726 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C... |
OMIM:619632 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... |
OMIM:300400 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress |
ORPHA:141152 |
Ciliary Dyskinesia, Primary, 16 |
|
Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Abnormal ciliary m... |
OMIM:614017 |
Immunodeficiency 62 |
|
Bronchiectasis, Autoimmune thrombocytopenia |
OMIM:618459 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... |
ORPHA:217390 |
Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Atr... |
OMIM:616576 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... |
OMIM:300991 |
Caspase 8 Deficiency |
|
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... |
OMIM:607271 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis |
OMIM:618449 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Chronic lung disease, B lymphocytopenia, T lymphocytopenia, Inflammation of... |
OMIM:618108 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... |
ORPHA:2032 |
Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... |
OMIM:301082 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... |
OMIM:618986 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pulmonary hemorrhage, Giant platelets, Neutropenia, Pneumonia, T... |
ORPHA:238459 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic sinusitis, Ciliar... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615444 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Ciliary Dyskinesia, Primary, 38 |
|
Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rh... |
OMIM:618063 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail... |
ORPHA:90117 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections |
OMIM:615872 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Asthma, Aspirin-induced asthma, Nasal polyposis, Bronchoconstriction |
OMIM:208550 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Lymphopenia, Chronic oral candidiasis, Decreased circulatin... |
ORPHA:169160 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis, Abnormality of neu... |
ORPHA:229717 |
Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Immotile cilia, Bronchiectasis... |
OMIM:606763 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... |
OMIM:193670 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... |
OMIM:619466 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Absence of CD8-positive T cells, Recurrent respiratory infections |
OMIM:608957 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Pneumonia, Upper airway obs... |
ORPHA:3348 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... |
OMIM:619126 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Sinusitis, Airway obstruction, Abnormal respiratory motile cilium morphology, Chronic rhinitis, R... |
OMIM:242680 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... |
OMIM:618282 |
Aspergillosis |
|
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... |
ORPHA:1163 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:1302 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ... |
OMIM:619752 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Respira... |
ORPHA:133 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
Tularemia |
|
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Leukocytosis, Otitis ... |
ORPHA:3392 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor |
ORPHA:2375 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Abnormal blood gas level, Increased circulating i... |
ORPHA:70578 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... |
OMIM:614700 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... |
OMIM:615482 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... |
OMIM:618394 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... |
OMIM:619652 |
Panbronchiolitis, Diffuse |
|
Hypoxemia, Rhonchi, Crackles, Cough, Wheezing, Bronchiectasis |
OMIM:604809 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilic infiltration of the esophagus, Eosinophilia, Eczema, Atopic dermatitis, Decr... |
OMIM:243700 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary ar... |
OMIM:612387 |
Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumothorax, Pneumo... |
ORPHA:454836 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Scedosporiosis |
|
Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchitis, Respirator... |
ORPHA:449280 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Chron... |
OMIM:618699 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Neutropenia |
ORPHA:70592 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskines... |
OMIM:244400 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... |
OMIM:150550 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... |
OMIM:615139 |
Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary dyskinesia... |
OMIM:610852 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Ne... |
OMIM:616740 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respiratory system phys... |
OMIM:242670 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... |
ORPHA:486 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... |
OMIM:616100 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... |
OMIM:618523 |
Laryngotracheoesophageal Cleft |
|
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respiratory infections |
ORPHA:2004 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Bronchi... |
OMIM:608184 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Cough, Arth... |
ORPHA:33110 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent bacterial skin infections, Decreased circulating... |
ORPHA:276 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... |
OMIM:241600 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... |
ORPHA:217563 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Elevated circulating C-reactive protein concentration, Subpleural... |
ORPHA:79126 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Acute inf... |
ORPHA:31202 |
Ciliary Dyskinesia, Primary, 10 |
|
Chronic otitis media, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary... |
OMIM:612518 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... |
ORPHA:70587 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... |
OMIM:242700 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Rectal ... |
OMIM:601495 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Colitis, Recurrent bacterial skin infecti... |
ORPHA:911 |
Cleft Velum |
|
Aspiration pneumonia, Recurrent otitis media |
ORPHA:99772 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
Fusariosis |
|
Keratitis, Sinusitis, Osteomyelitis, Lymphopenia, Hypersensitivity pneumonitis, Maculopapular exa... |
ORPHA:228119 |
Immunodeficiency 77 |
|
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction |
OMIM:619223 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... |
OMIM:102700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... |
ORPHA:754 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... |
ORPHA:1572 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Desquamative interstitial pneumonitis, Hepa... |
OMIM:615952 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgA level, Splenomegaly, Increased proport... |
OMIM:618534 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Decreased circulating IgA level, Chronic bronchitis, T lymphocytopenia, Increased circ... |
OMIM:242860 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... |
ORPHA:829 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating my... |
ORPHA:36234 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Maculopapu... |
OMIM:619644 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Lymphopenia, Recurrent upper respiratory tract infections, T lymphocytope... |
OMIM:600802 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Otitis media, Recurrent upper respiratory tract infections, Lymphadenitis... |
ORPHA:51636 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... |
OMIM:602450 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... |
OMIM:616005 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... |
OMIM:600903 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Salmonella osteomyelitis, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia |
ORPHA:319552 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Recurrent sinusitis... |
OMIM:615207 |
Felty Syndrome |
|
Sinusitis, Rhinitis, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morphology, Pericard... |
ORPHA:47612 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Eczematoid dermat... |
ORPHA:37042 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Chronic hepa... |
ORPHA:572 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Panhypogammaglobulinemia, Epididymitis, ... |
OMIM:307200 |
Selective Igm Deficiency |
|
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... |
ORPHA:331235 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Recurrent otit... |
OMIM:618495 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Recurrent otitis media, Recurrent sinopulm... |
ORPHA:244 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... |
ORPHA:231401 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... |
ORPHA:169154 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Pustule, Skin rash, Eosinophilia, Interstitial pneumonitis, Myocarditis, Cough, He... |
ORPHA:139402 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
Immunodeficiency 58 |
|
Asthma, Colitis, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respiratory t... |
OMIM:618131 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... |
ORPHA:79128 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Cough, Decreased circulating... |
ORPHA:169105 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abnormal neutrophi... |
ORPHA:3226 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Osteomyelitis, Increased ... |
ORPHA:443811 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Sparse axillary hair, Female external genitalia in individual with 46,XY karyotype,... |
ORPHA:99429 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... |
OMIM:301081 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:158061 |
Omenn Syndrome |
|
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Pneumonia, Erythroderma... |
ORPHA:39041 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Otiti... |
OMIM:613179 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Chronic rhinitis, Rhinorrhea, Wheezing |
OMIM:617577 |
Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hirsutism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... |
ORPHA:420741 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decreased circulatin... |
OMIM:226300 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Cough, Pleuritis, Pulmonary arterial hypertension, Bronchiectasi... |
ORPHA:662 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Recurrent respiratory infections, Cough |
OMIM:619468 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Hirsutism, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutr... |
OMIM:612852 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Cough, Pneumonia, Dyspnea, Bronchogenic cyst, Pulmonary cyst |
ORPHA:2357 |
Gaucher Disease, Type Ii |
|
Apnea, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia |
OMIM:230900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Pulmonary hemorrhage, T lymphocytopeni... |
ORPHA:79124 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Elevated circulating C-reactive protein concentration, Pustule, Neutrophilia, Leu... |
OMIM:614204 |
Nocardiosis |
|
Respiratory distress, Keratitis, Lymphadenitis, Pneumonia, Pericarditis, Respiratory failure, Scl... |
ORPHA:31204 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Pneumonia |
OMIM:300209 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Q Fever |
|
Respiratory distress, Increased circulating antibody level, Osteomyelitis, Splenomegaly, Maculopa... |
ORPHA:781 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis, Absent pubic hair |
OMIM:612964 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Bronchiectasis, Stomatitis |
OMIM:618648 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pulmonary granu... |
ORPHA:1304 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Diarrhea 12, With Microvillus Atrophy |
|
Bronchiectasis, Respiratory tract infection |
OMIM:619445 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Mucoepithelial Dysplasia, Hereditary |
|
Fibrocystic lung disease, Eosinophilia, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, ... |
OMIM:158310 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomega... |
ORPHA:39812 |
Immunodeficiency 23 |
|
Asthma, Lymphopenia, Eosinophilia, Abscess, Eczema, Membranoproliferative glomerulonephritis, Inc... |
OMIM:615816 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Abs... |
OMIM:614841 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgE, Decreased c... |
OMIM:308230 |
Timothy Syndrome |
|
Bronchitis, Pneumonia |
OMIM:601005 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Abnormal lung... |
ORPHA:54251 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Bronchial Neuroendocrine Tumor |
|
Asthma, Nonproductive cough, Bronchospasm, Abnormal pulmonary interstitial morphology, Wheezing, ... |
ORPHA:97287 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Pneumonia, Rhinitis, Prostatitis, Osteomyeli... |
ORPHA:2552 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Restrictive ven... |
ORPHA:98897 |
Familial Mediterranean Fever |
|
Crohn's disease, Orchitis, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-react... |
OMIM:249100 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Recurrent streptococcus pneumoniae infections, Sinusitis, ... |
ORPHA:83471 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Increased circulating surfactant... |
ORPHA:60025 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, Leukocytosis, Inc... |
OMIM:617099 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytos... |
OMIM:301078 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, D... |
OMIM:619381 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Sinusitis, Neutropenia, Osteomyelitis, Hypoamylasemia, Skin ra... |
ORPHA:811 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Bloom Syndrome |
|
Cheilitis, Abnormal proportion of CD8-positive T cells, Rhinitis, Chronic pulmonary obstruction, ... |
ORPHA:125 |
Listeriosis |
|
Respiratory distress, Abscess, Myocarditis, Pneumonia, Pericarditis, Respiratory failure, Septic ... |
ORPHA:533 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Chronic otitis media, Hemolytic anemia, Pneumonia, Thrombocytopenia |
ORPHA:169090 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Lymphopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimm... |
OMIM:607944 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Osteomyelitis, Peritonitis,... |
ORPHA:228123 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Pneumonia, Osteomyelitis, Peritonitis, Chronic oral candidias... |
ORPHA:2968 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Co... |
ORPHA:91547 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Stomatitis, Neutropenia, Dyspnea, Anemia, Thrombocytop... |
OMIM:246400 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Facial hirsutism,... |
ORPHA:247768 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:204 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Apnea, Episodic tachypnea |
ORPHA:79264 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Recurrent upper respiratory tract infections, Autoimmune thrombocytopen... |
ORPHA:293978 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Increased circulating interleukin 6 concentration, Pancreatitis, Leukocytosis, Ple... |
ORPHA:544482 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Asthma, Recurrent bronchopulmonary infections, Pa... |
OMIM:219700 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Arthritis |
OMIM:613328 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Shigellosis |
|
Splenic abscess, Acute colitis, Leukocytosis, Peritonitis, Abscess, Myocarditis, Arthritis, Uveit... |
ORPHA:810 |
Cryptococcosis |
|
Respiratory distress, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Peritonitis,... |
ORPHA:1546 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Hypoproteinemia, ... |
ORPHA:26793 |
Zygomycosis |
|
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... |
ORPHA:73263 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Myositis, Recurrent lower respiratory tract infections, Aspiration, Hy... |
ORPHA:258 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Alpha-Mannosidosis, Adult Form |
|
Hepatosplenomegaly, Pneumonia, Pancytopenia |
ORPHA:309288 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... |
ORPHA:1930 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ... |
ORPHA:48435 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal serum interferon-gamma level, Neutropenia in presence of anti-neutropil antibodies, Lymp... |
ORPHA:391487 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Iridocyclitis, Hypoxemia, Splenomegaly, Abnormal pulmonary ... |
OMIM:181000 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Aspiration pneumonia, Pancreatitis, Central sleep apnea |
ORPHA:431361 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... |
ORPHA:70 |
Spondyloenchondrodysplasia |
|
Skin rash, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, Arthritis, Hepatitis, Pneu... |
ORPHA:1855 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Aspiration, Respiratory insufficiency due to ... |
OMIM:606070 |
Igg4-Related Kidney Disease |
|
Pancreatitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Chronic sinus... |
ORPHA:449395 |
Hyperekplexia 1 |
|
Apnea, Aspiration |
OMIM:149400 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma,... |
OMIM:301220 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Increased circulat... |
OMIM:260920 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Aspiration, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine kinase |
ORPHA:600 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Pulmonary edema, Leukocy... |
ORPHA:340 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pancreatitis, Neutrophilia, Eczema, Erythroderma, Colitis, Inflammatory abn... |
ORPHA:3260 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Increased circulating antibody level, Skin rash, Sp... |
OMIM:615846 |
Tenorio Syndrome |
|
Stomatitis, Apnea, Keratoconjunctivitis sicca, Pneumonia |
OMIM:616260 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia, Agammaglobulinemia |
ORPHA:52368 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Chronic oral candidiasis, Abnormal T cell subset distribution, Decreased circulating total IgA, D... |
ORPHA:221139 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Interstitial pneumonitis, Aplastic anemia, Anemia, Thrombocytopenia, Pulmonary fibrosis |
OMIM:127550 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
Insulin-Resistance Syndrome Type B |
|
Increased circulating IgA level, Nephritis, Skin rash, Osteoarthritis, Leukopenia, Increased circ... |
ORPHA:2298 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia, Apneic episodes in infancy |
ORPHA:35069 |
Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, Pneumonia, Mastocytosis |
ORPHA:2135 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Normocytic anemia, Normochromic anemia, Pneumonia |
ORPHA:247691 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Thrombocytopenia, Leukopenia, Pneumonia |
OMIM:603467 |
Atrial Septal Defect, Coronary Sinus Type |
|
Anomalous pulmonary venous return, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hyp... |
ORPHA:99104 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Aspiration |
OMIM:610768 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Mirage Syndrome |
|
Lymphopenia, Aspiration pneumonia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia |
OMIM:617053 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional dyspnea, P... |
ORPHA:99103 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... |
OMIM:164310 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Aspiration |
OMIM:618733 |
Chops Syndrome |
|
Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, Aspiration pneumonia, Splenomegal... |
OMIM:616368 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Aspiration pneumonia, Cough, Tracheobronchial leiomyomatosis, Dyspnea, Recurrent respi... |
ORPHA:1018 |
Gm1 Gangliosidosis |
|
Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Infectious encephalitis, Recurrent respir... |
ORPHA:354 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... |
ORPHA:90796 |
Bickerstaff Brainstem Encephalitis |
|
Hypercapnia, Respiratory failure requiring assisted ventilation, Respiratory tract infection, Pne... |
ORPHA:79138 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation |
OMIM:619482 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia |
ORPHA:79243 |
Cholera |
|
Aspiration pneumonia, Hyperventilation, Tachypnea |
ORPHA:173 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:168558 |
Sarcoidosis |
|
Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Abnormal ... |
ORPHA:797 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pustule, Increased red blood cell count, Infectious encephalitis, Pneumonia, Respirato... |
ORPHA:68 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:289548 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Keratitis, Inflammatory abnormality of the skin, Skin rash, Chronic lung di... |
ORPHA:95455 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
Leukocyte Adhesion Deficiency Type Ii |
|
Keratitis, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Severe periodontitis, Mic... |
ORPHA:99843 |
Mucopolysaccharidosis, Type Vi |
|
Sleep apnea, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory ... |
OMIM:253200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Stridor, Aspiration |
OMIM:614653 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Neonatal respiratory distress, Aspiration |
OMIM:618922 |
Japanese Encephalitis |
|
Respiratory distress, Increased circulating antibody level, Pulmonary edema, Irregular respiratio... |
ORPHA:79139 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pyoderma, Recurrent skin infections, Stridor, Pneumonia, Pneumothorax, Dysp... |
ORPHA:79404 |
Crimean-Congo Hemorrhagic Fever |
|
Neutrophilia, Hemothorax, Myocarditis, Thrombocytopenia, Epididymitis, Pancytopenia, Splenomegaly... |
ORPHA:99827 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Aspiration pneumonia, Elevated circulating creatine kinase concentration, Pulmonary... |
ORPHA:94093 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia |
OMIM:300472 |
Congenital Fiber-Type Disproportion Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration pneumonia, Weakness of muscles of re... |
ORPHA:2020 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Developmental And Epileptic Encephalopathy 100 |
|
Aspiration, Central sleep apnea, Recurrent respiratory infections, Obstructive sleep apnea |
OMIM:619777 |
Ogden Syndrome |
|
Apnea, Peripheral pulmonary artery stenosis, Recurrent otitis media, Pulmonary edema, Polycythemi... |
OMIM:300855 |
Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Aspiration pneumonia, Otitis media, Chronic otitis media, Upper airway obstruction,... |
ORPHA:581 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Esophagitis, Aspiration, Obstructive sleep apnea |
ORPHA:96182 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia |
ORPHA:90790 |
Plague |
|
Respiratory distress, Enterocolitis, Skin rash, Splenomegaly, Lymphadenitis, Endocarditis, Acute ... |
ORPHA:707 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly |
OMIM:301072 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Status asthmaticus, Pulmonary ed... |
OMIM:619991 |
Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Hirsutism, ... |
ORPHA:90794 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Alpha-Mannosidosis, Infantile Form |
|
Hepatosplenomegaly, Otitis media, Pneumonia, Pancytopenia |
ORPHA:309282 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypertrichosis, Sparse eyebrow, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Nail dystrop... |
OMIM:614527 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... |
ORPHA:284339 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Chronic lung disease, Tachypnea, Recurrent aspiration pneumonia, Recurrent respiratory inf... |
ORPHA:397715 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia, Pneumonia, Otitis media |
OMIM:122470 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Aspiration |
ORPHA:2131 |
Degcags Syndrome |
|
Asthma, Rhinitis, Congenital hypoplastic anemia, Tracheomalacia, Leukopenia, Abnormal spleen morp... |
OMIM:619488 |
Marshall-Smith Syndrome |
|
Apnea, Airway obstruction, Aspiration pneumonia, Recurrent upper respiratory tract infections, Re... |
OMIM:602535 |
Adnp Syndrome |
|
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration |
ORPHA:404448 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:79255 |
Opitz Gbbb Syndrome |
|
Aspiration |
OMIM:300000 |
Tay-Sachs Disease |
|
Aspiration pneumonia, Increased serum beta-hexosaminidase |
ORPHA:845 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Uterus didelphys, Aplasia of the uterus, Septate vagina |
ORPHA:2237 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:73230 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Bifid uterus, Abnormal reproductive system morphology, Low ... |
ORPHA:1521 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia |
OMIM:271520 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Abnormal hair whorl |
ORPHA:457284 |
Limb-Mammary Syndrome |
|
Absent nipple, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Hypoplastic nipples, Breast... |
ORPHA:69085 |
Niemann-Pick Disease Type C |
|
Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Respiratory insufficiency, Abnormal lung ... |
ORPHA:646 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Sleep apnea, Tracheomalacia, Aspiration pneumonia, Chronic lung disease, Pulmonary arteri... |
ORPHA:444077 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Aspiration |
ORPHA:98889 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Blepharitis, Peripheral pulmonary artery stenosis, Elevated alpha-fetoprotein, Recurrent aspirati... |
ORPHA:280633 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Skin rash, Leukocytosis, Elevate... |
ORPHA:99829 |
Miller-Dieker Lissencephaly Syndrome |
|
Recurrent aspiration pneumonia |
OMIM:247200 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Coffin-Siris Syndrome |
|
Aspiration pneumonia, Recurrent upper respiratory tract infections |
ORPHA:1465 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Anemia, Hypoventilatio... |
ORPHA:438213 |
Opitz Gbbb Syndrome |
|
Recurrent aspiration pneumonia, Stridor, Tracheomalacia |
ORPHA:2745 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Chronic otitis media, Recurrent aspiration pneumonia, Recurrent otitis medi... |
OMIM:616268 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Asthma, Otitis media, Pneumonia, Recurrent respiratory infections, Obstructive sleep apnea |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Asthma, Otitis media, Aspiration, Pneumonia, Recurrent respiratory infections, Obstructive sleep ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Asthma, Otitis media, Aspiration, Pneumonia, Recurrent respiratory infections, Obstructive sleep ... |
ORPHA:353277 |
Semilobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea |
ORPHA:93924 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Asthma, Apnea, Hepatosplenomegaly, Atopic dermatitis, Chronic otitis media, Hemolytic anemia, Asp... |
OMIM:619503 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Osteomyelitis, Abscess, Recurrent aspiration pneumonia, Fasciitis, Tooth abscess, Anemia, Septic ... |
ORPHA:642 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Recurrent respiratory infections, Pneumonia |
OMIM:264090 |
Exstrophy-Epispadias Complex |
|
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... |
ORPHA:322 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Hypertrichosis, Thick eyebrow, Hypospadias, Dry hair, Facial hypertrichosis, L... |
OMIM:135900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
Fontaine Progeroid Syndrome |
|
Respiratory insufficiency, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Pneumothorax, Pu... |
OMIM:612289 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Bifid uterus, Stillbirth, Hypospadias |
OMIM:236680 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Stillbirth, Cryptorchidism, Absent eyelashes |
OMIM:256520 |
Doors Syndrome |
|
Aspiration pneumonia, Thrombocytosis, Respiratory distress |
ORPHA:79500 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism, Alopecia of... |
OMIM:130050 |
Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Hypospadias, Aplasia of the uterus, Cryptorchidism, Highly arched eyebrow, Lo... |
OMIM:194190 |
Okamoto Syndrome |
|
Bifid uterus, Hypertrichosis, Facial hypertrichosis, Extension of hair growth on temples to later... |
ORPHA:2729 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... |
OMIM:107480 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... |
OMIM:276820 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Recurrent aspiration pneumonia, Autoimmune thrombocytopenia, Recurrent otitis m... |
OMIM:147920 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Labial hypoplasia, Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Hy... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Abnormality of hair texture, Cystocele, Uterine rupture, Alopecia, Hypospadias,... |
ORPHA:286 |
Norrie Disease |
|
Optic atrophy, Cryptorchidism, Uterine rupture |
ORPHA:649 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Pmm2-Cdg |
|
Respiratory distress, Aspiration pneumonia, Impaired neutrophil chemotaxis, Hypoalbuminemia, Redu... |
ORPHA:79318 |
Yunis-Varon Syndrome |
|
Aspiration pneumonia, Pulmonary arterial hypertension |
OMIM:216340 |