Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Pneumonia, Recurrent bronchitis, Chronic furunculosis, Chronic ora... |
OMIM:613953 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia |
OMIM:617638 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... |
OMIM:618781 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... |
ORPHA:1303 |
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 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly |
OMIM:269840 |
Idiopathic Achalasia |
|
Wheezing, Decreased prealbumin level, Recurrent aspiration pneumonia, Cough, Bronchitis |
ORPHA:930 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... |
OMIM:601495 |
Immunodeficiency 50 |
|
Eczema, Neutropenia, Decreased circulating antibody level, Lymphopenia, Recurrent respiratory inf... |
OMIM:300988 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent o... |
OMIM:615294 |
Immunodeficiency 13 |
|
B lymphocytopenia, Bronchiectasis, T lymphocytopenia, Bronchiolitis obliterans organizing pneumon... |
OMIM:615518 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... |
OMIM:613502 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia |
OMIM:608971 |
Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
Immunodeficiency 32B |
|
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly, Recurrent respiratory infections |
OMIM:226990 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Recurrent br... |
OMIM:607594 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Recurrent otitis media, Cough, R... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 5 |
|
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Rhinitis, Respiratory insuff... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... |
OMIM:615451 |
Ciliary Dyskinesia, Primary, 39 |
|
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... |
OMIM:618254 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurrent respirat... |
OMIM:613501 |
Ciliary Dyskinesia, Primary, 15 |
|
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613808 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, T lymphocytopeni... |
OMIM:601457 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... |
ORPHA:922 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... |
ORPHA:60033 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... |
OMIM:616576 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rh... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Recurrent otitis medi... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 46 |
|
Ciliary dyskinesia, Bronchiectasis, Reduced forced expiratory volume in one second, Recurrent oti... |
OMIM:619436 |
Cholesterol Pneumonia |
|
Tachypnea, Cough, Pneumonia |
OMIM:215030 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Ciliary Dyskinesia, Primary, 45 |
|
Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... |
OMIM:618801 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Absent cen... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 35 |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respiratory infections, Nas... |
OMIM:617092 |
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 |
Ciliary Dyskinesia, Primary, 26 |
|
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 27 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615504 |
Acute Lung Injury |
|
Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Increased ci... |
ORPHA:178320 |
Mounier-Kühn Syndrome |
|
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Ciliary Dyskinesia, Primary, 14 |
|
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613807 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... |
ORPHA:723 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory... |
OMIM:610910 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Elevated carcinoembryonic antigen le... |
ORPHA:264675 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent otitis media, Neutropenia |
OMIM:616022 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 13 |
|
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Absent outer dynein arms, Ab... |
OMIM:613193 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
Ciliary Dyskinesia, Primary, 16 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Absent outer dynein a... |
OMIM:614017 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... |
OMIM:619220 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... |
OMIM:209950 |
Ciliary Dyskinesia, Primary, 12 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Abnormal central microtu... |
OMIM:612650 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis |
OMIM:618459 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Recurrent sinusitis, Impaired nasal mucociliary clearance, Bronchiectasis |
OMIM:618449 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... |
ORPHA:2032 |
Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sinusitis, Bronchiolitis, Emp... |
OMIM:604571 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Slc35A1-Cdg |
|
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Respiratory distress, Abnormal platelet ... |
ORPHA:238459 |
Ciliary Dyskinesia, Primary, 28 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615505 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Chronic otitis media, Respiratory distress, Abnormal mucociliary clearance, Recur... |
OMIM:619466 |
Caspase 8 Deficiency |
|
Eczema, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased... |
OMIM:607271 |
Immunodeficiency 52 |
|
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... |
OMIM:617514 |
Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Hypoxemia, Pneumonia, Leukopenia, Tachypnea, Pneumothorax, Cough, Pleural empyema, ... |
ORPHA:36238 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi... |
OMIM:618986 |
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 |
Ciliary Dyskinesia, Primary, 17 |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Bronchiectasis, Chronic rhinit... |
OMIM:614679 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Ciliary Dyskinesia, Primary, 22 |
|
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... |
OMIM:615444 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis |
OMIM:279000 |
Ciliary Dyskinesia, Primary, 19 |
|
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due t... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Bronchiectasis, Rhinitis, Chronic otitis media, Chronic sinusitis,... |
OMIM:618063 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... |
ORPHA:3348 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Cough, Respiratory failure, Dyspnea, Respirat... |
ORPHA:90117 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Ovarian Dysgenesis 2 |
|
Hirsutism, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogona... |
OMIM:300510 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Aspirin-induced asthma, Bronchoconstriction, Nasal polyposis, Asthma |
OMIM:208550 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... |
ORPHA:229717 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... |
OMIM:606763 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... |
OMIM:619632 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... |
ORPHA:169160 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... |
ORPHA:1164 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Whim Syndrome 1 |
|
Neutropenia, Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody leve... |
OMIM:193670 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... |
OMIM:266265 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
Aspergillosis |
|
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Eosinophilia, Chronic pulmonary obstruction, Infect... |
ORPHA:1163 |
Ciliary Dyskinesia, Primary, 7 |
|
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... |
OMIM:611884 |
Immunodeficiency 75 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Hepatosp... |
OMIM:619126 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Eosinophilia, Bronchiectasis, Recurrent otitis media, Chronic mucocuta... |
OMIM:618282 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
Ciliary Dyskinesia With Excessively Long Cilia |
|
Abnormal respiratory motile cilium morphology, Sinusitis, Ciliary dyskinesia, Recurrent bronchiti... |
OMIM:242680 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... |
ORPHA:1302 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal blood gas level... |
ORPHA:70578 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia |
ORPHA:97244 |
Tularemia |
|
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Respiratory distress, Increased circulatin... |
ORPHA:3392 |
Neutropenia, Chronic Familial |
|
Periodontitis, Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... |
OMIM:614700 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... |
OMIM:618394 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... |
OMIM:615482 |
Panbronchiolitis, Diffuse |
|
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Rhonchi, Cough |
OMIM:604809 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Absent outer dynein arms, ... |
OMIM:244400 |
Immunodeficiency 92 |
|
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... |
OMIM:619652 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis |
OMIM:615481 |
Scedosporiosis |
|
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Pericarditis, Abnormal respiratory syste... |
ORPHA:449280 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 43 |
|
Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chronic sinusi... |
OMIM:618699 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Decreased specific anti-polysacchar... |
OMIM:300853 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... |
OMIM:150550 |
Avian Influenza |
|
Hepatitis, Respiratory failure, Elevated circulating C-reactive protein concentration, Conjunctiv... |
ORPHA:454836 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia, Recurrent streptococcus pneumoniae infections |
ORPHA:70592 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Ciliary Dyskinesia, Primary, 6 |
|
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Sinusitis, Cil... |
OMIM:610852 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecific interstitial pn... |
OMIM:610921 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... |
OMIM:616100 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Ciliary dyskinesia, Chronic rhinitis, Absent r... |
OMIM:242670 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Eosinophilia, Neutropenia, Pneumonia, Monocytosis, Rhinitis, Recurr... |
ORPHA:486 |
Immunodeficiency 46 |
|
Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circulating ... |
OMIM:616740 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Anemia, Sp... |
OMIM:603554 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:231154 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respiratory failur... |
ORPHA:70587 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Bronchiectasis, Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocy... |
OMIM:608184 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Eosinophilia, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating Ig... |
OMIM:618523 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... |
ORPHA:33110 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Reduced hematocrit, Hypoxemia, Crackles, Bronchiectasi... |
ORPHA:79126 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Dyspnea, Recurrent respiratory infections |
ORPHA:2004 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... |
ORPHA:276 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Aplasia of the thymus, Recurrent upper respiratory tract infections, Panhypogammaglobu... |
OMIM:602450 |
Poikiloderma With Neutropenia |
|
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... |
OMIM:604173 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Immunodeficiency 43 |
|
Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Recurrent resp... |
OMIM:241600 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Rec... |
ORPHA:183675 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bronchitis, Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:240500 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Spars... |
ORPHA:754 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... |
OMIM:242700 |
Melioidosis |
|
Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ... |
ORPHA:31202 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Recurrent upper and lower respira... |
ORPHA:911 |
Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chronic otitis media, Chronic ... |
OMIM:612518 |
Fusariosis |
|
Sinusitis, Brain abscess, Abnormality of the spleen, Productive cough, Neutropenia, Lung abscess,... |
ORPHA:228119 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Inc... |
OMIM:614470 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Decrease... |
ORPHA:1572 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Bronc... |
OMIM:619446 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Cutaneous abscess, Bronchiectasis |
OMIM:619223 |
Whim Syndrome |
|
Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ... |
ORPHA:51636 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce... |
OMIM:242860 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Bronchiectasis, Increased circulating IgA level, Decreased circulating Ig... |
OMIM:618534 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Premature ovarian insufficiency, Absent pubic hair, Gonadal dysgenesis, Hyp... |
OMIM:612964 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... |
OMIM:615952 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Infectious encephalitis, Neutropenia, Pancytopenia, Decreased circulating IgG level, Fulminant he... |
OMIM:308240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating myelocyte c... |
ORPHA:36234 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... |
OMIM:102700 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Restrictive ventilatory defect, Pericarditis, Pleuritis, Hepatitis, Ar... |
ORPHA:829 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Monocytosis, Pulmonary hemorrhage, Recurre... |
OMIM:619644 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent otitis media, Re... |
OMIM:600802 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... |
OMIM:600903 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... |
OMIM:616005 |
Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
Immunodeficiency 56 |
|
Cholangitis, Bronchiectasis, Recurrent otitis media, Panhypogammaglobulinemia, Recurrent pneumoni... |
OMIM:615207 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Abnormal serum interleukin level, Pneumonia |
ORPHA:319552 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Asplenia, Br... |
ORPHA:244 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... |
ORPHA:70588 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Felty Syndrome |
|
Sinusitis, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media, Rhinitis, Pl... |
ORPHA:47612 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Abse... |
OMIM:307200 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczema, Decreased prealbumin level, Tubulointerstitial nephritis, Neutropenia, Neutropenia in pre... |
ORPHA:37042 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:572 |
Agammaglobulinemia, X-Linked |
|
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... |
OMIM:300755 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Selective Igm Deficiency |
|
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decre... |
ORPHA:331235 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Hirsutism, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Subpleural interstitial thickening, Eczema, Wheezing, Hypoxemia, Crac... |
ORPHA:79128 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Interstitial pneumonitis, Infectious enc... |
ORPHA:139402 |
Good Syndrome |
|
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Dyspnea, Recurren... |
ORPHA:169105 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... |
OMIM:273250 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... |
ORPHA:231401 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Neutropenia, Increased circulating IgA level, Increased circulating IgG level, Recu... |
ORPHA:169154 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Decreased circulating IgA level, Bronchiolitis, Decreased circulating t... |
OMIM:614878 |
Immunodeficiency 58 |
|
Eczema, Chronic bronchitis, Allergic rhinitis, Decreased specific antibody response to vaccinatio... |
OMIM:618131 |
Pgm3-Cdg |
|
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... |
ORPHA:443811 |
Bronchogenic Cyst |
|
Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Atelect... |
ORPHA:2357 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... |
ORPHA:158061 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Thrombocytopenia, Acute leukemia, Chronic otitis media, Splenomegaly, Myeloprolifer... |
ORPHA:3226 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis with female appearance, male, Testicular dysgenesis, Abnormal vagina morpholog... |
ORPHA:168563 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia... |
OMIM:613179 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Chronic rhinitis, Rhinorrhea, Bronchiectasis |
OMIM:617577 |
Omenn Syndrome |
|
Leukocytosis, Erythroderma, Pneumonia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thyr... |
ORPHA:39041 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... |
ORPHA:47 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoproteinemia, Pneumonia, Iron deficiency anemia, Decreased circulating antibod... |
OMIM:226300 |
Yellow Nail Syndrome |
|
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... |
ORPHA:662 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Cough, Bronchiectasis |
OMIM:619468 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Riddle Syndrome |
|
Restrictive ventilatory defect, Pneumonia, Decreased circulating IgA level, Decreased circulating... |
ORPHA:420741 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Gaucher Disease, Type Ii |
|
Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent aspiration pneumonia, Anemia, Pulmonary hemorrhage, Chronic mucocutaneous candidiasis, ... |
ORPHA:79124 |
Nocardiosis |
|
Brain abscess, Pleuritis, Respiratory failure, Emphysema, Liver abscess, Conjunctivitis, Pericard... |
ORPHA:31204 |
Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia, Elevat... |
OMIM:614204 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pustule, Stomatitis, Abscess, Osteomyelitis, Splenomegaly, Neutrophilia, Respiratory distress, Sk... |
OMIM:612852 |
Q Fever |
|
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hepatitis, Anemia, C... |
ORPHA:781 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Pneumonia |
OMIM:300209 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... |
ORPHA:2590 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... |
OMIM:614837 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Elevated circula... |
ORPHA:1304 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Predominantly dermal neutrophilic infiltrate, Inflammat... |
ORPHA:3243 |
Partial Androgen Insensitivity Syndrome |
|
Abnormality of secondary sexual hair, Hypospadias, Aplasia of the uterus, Fused labia majora, Bif... |
ORPHA:90797 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Fibrocystic lung d... |
OMIM:158310 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Absent pubic hair, Cryptorchi... |
OMIM:614841 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Chronic mucocutaneous cand... |
OMIM:209920 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Neutropenia, Eosinophilia, Bronchiectasis, Abscess, Increased circulat... |
OMIM:615816 |
Bronchial Neuroendocrine Tumor |
|
Wheezing, Pneumonia, Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Nonproduct... |
ORPHA:97287 |
Felty Syndrome |
|
Rheumatoid arthritis, Neutropenia, Splenomegaly |
OMIM:134750 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Anemia, Neutrophilia, Abnormal lung morphology, Elevated circulating C-reactive pr... |
ORPHA:54251 |
Timothy Syndrome |
|
Pneumonia, Bronchitis |
OMIM:601005 |
Microsporidiosis |
|
Myocarditis, Sinusitis, Cholangitis, Brain abscess, Hepatitis, Bronchitis, Infectious encephaliti... |
ORPHA:2552 |
Oculopharyngodistal Myopathy |
|
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Recurrent aspir... |
ORPHA:98897 |
Thymic Aplasia |
|
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Chronic otiti... |
ORPHA:83471 |
Pulmonary Alveolar Microlithiasis |
|
Subpleural interstitial thickening, Restrictive ventilatory defect, Increased circulating surfact... |
ORPHA:60025 |
Familial Mediterranean Fever |
|
Leukocytosis, Pericarditis, Peritonitis, Pleuritis, Elevated circulating amyloid A, Arthritis, Er... |
OMIM:249100 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Spermatogenic Failure 15 |
|
Aspiration |
OMIM:616950 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Bloom Syndrome |
|
Acute lymphoblastic leukemia, Chronic pulmonary obstruction, Abnormal proportion of CD8-positive ... |
ORPHA:125 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Chronic neutropenia, Eczema, Macrocytic anemia, Neutropenia, Normocytic anemia, Pneumo... |
ORPHA:811 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... |
OMIM:617099 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... |
ORPHA:91359 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Pneumonia, Recurrent otitis media, Autoimmune thrombocytopenia, Rheumatoid arthritis... |
OMIM:607944 |
Listeriosis |
|
Myocarditis, Brain abscess, Septic arthritis, Respiratory failure, Granulomatosis, Liver abscess,... |
ORPHA:533 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Chronic otitis media, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... |
OMIM:618849 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:612310 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total IgM, Elevated ci... |
OMIM:619381 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hirsutism, Frontal balding, Hypoplasia of t... |
ORPHA:247768 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619203 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Recurrent aphthous stomatitis, Conjunctivitis, Leukocytosis, Polycythemia, Vaginitis, ... |
ORPHA:2968 |
Coccidioidomycosis |
|
Pleural empyema, Eosinophilia, Morbilliform rash, Pericarditis, Folliculitis, Osteomyelitis, Skin... |
ORPHA:228123 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Aspiration pneumonia, Episodic tachypnea |
ORPHA:79264 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Brain abscess, Leukocytosis, Increased circulating interleukin 6, Pneumonia, Acute c... |
ORPHA:544482 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Abnormal l... |
ORPHA:293978 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Decreased forced expiratory flow ... |
OMIM:219700 |
Letterer-Siwe Disease |
|
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Dys... |
OMIM:246400 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Epistaxis, Anemia, Cough, Neutrophilia, Thrombocytopenia, Elevated circ... |
ORPHA:91547 |
Shigellosis |
|
Myocarditis, Leukocytosis, Splenic abscess, Pneumonia, Peritonitis, Microangiopathic hemolytic an... |
ORPHA:810 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619665 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
Cryptococcosis |
|
Pneumonia, Prostatitis, Peritonitis, Lymphoid leukemia, Cough, Osteomyelitis, Respiratory distres... |
ORPHA:1546 |
Zygomycosis |
|
Sinusitis, Myocarditis, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Gastritis, Pericarditis... |
ORPHA:73263 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Highly elevated creatine kinase, Intercostal muscle weakness, Respiratory insufficiency, Myositis... |
ORPHA:258 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:606070 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Increased circulating Ig... |
ORPHA:48435 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Hypoproteinemia, Pneumonia, Elevated circulating creatine k... |
ORPHA:26793 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Aspiration pneumonia |
ORPHA:216866 |
Sarcoidosis, Susceptibility To, 1 |
|
Restrictive ventilatory defect, Hypoxemia, Inflammation of the large intestine, Bronchiectasis, P... |
OMIM:181000 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Hepatosplenomegaly, Pneumonia |
ORPHA:309288 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Respiratory fa... |
ORPHA:1930 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia, Central sleep apnea |
ORPHA:431361 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Pneumonia, Hepatitis, Arthritis, Autoimmune thrombocytopenia, Juvenile rheumatoid a... |
ORPHA:1855 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Dyspnea, Sleep apnea, Pneumonia |
OMIM:617809 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Bronchi... |
ORPHA:391487 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Bloom Syndrome |
|
Bronchiectasis, Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Malar... |
OMIM:210900 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Eosinophilia, Elevated circula... |
ORPHA:449395 |
Ataxia-Telangiectasia |
|
Sinusitis, Recurrent bronchitis, Leukemia, Bronchiectasis, Hypoplasia of the thymus, Decreased ci... |
OMIM:208900 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... |
ORPHA:70 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Increased circulating interleukin 8, Recurrent pneumonia, Reduced circulating int... |
OMIM:301220 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis... |
OMIM:260920 |
Mercury Poisoning |
|
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis |
ORPHA:330021 |
Tenorio Syndrome |
|
Keratoconjunctivitis sicca, Apnea, Pneumonia, Stomatitis |
OMIM:616260 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Increased circulating interleukin 6, Tubulointerstitial nephritis, Pneumonia, Epist... |
ORPHA:340 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Mildly elevated creatine kinase, Aspiration |
ORPHA:600 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Eczema, Splenomegaly, Hepatosplenomegaly, Pulmonary embolism, Eosinophilia, Inflamma... |
ORPHA:3260 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Recurrent respiratory infections, Abnormal respiratory system physiology, Pn... |
ORPHA:98905 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Psoriasiform dermatitis, B lymphocytopenia, Neonatal respiratory distress, Recurrent aspiration p... |
ORPHA:221139 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... |
ORPHA:90793 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina |
OMIM:146255 |
Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
Chops Syndrome |
|
Chronic lung disease, Aspiration pneumonia |
OMIM:616368 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Anemia, Lymphopenia, Pulmonary fibrosis, Thrombocytopenia, Aplastic anemia |
OMIM:127550 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Pneumonia, Increased circulating IgA level, Nephritis, Increased circulating IgG leve... |
ORPHA:2298 |
Nijmegen Breakage Syndrome |
|
Sinusitis, B lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Dysgammaglobulinemia, Otitis ... |
OMIM:251260 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Respiratory insufficiency, Pneumonia |
ORPHA:2135 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normochromic anemia, Normocytic anemia, Skin rash, Pneumonia |
ORPHA:247691 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Anomalous pulmonary venous return... |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Orthopne... |
ORPHA:99103 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia |
ORPHA:79243 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Fanconi Anemia, Complementation Group F |
|
Thrombocytopenia, Leukopenia, Anemia, Pneumonia |
OMIM:603467 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Mirage Syndrome |
|
Leukopenia, Anemia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia, Aspiration pneumonia |
OMIM:617053 |
Esophageal Atresia |
|
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Esophagitis,... |
ORPHA:1199 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Cough, Keratitis, Tracheobronchial leiomyomatosis, Dyspnea, Recurrent respiratory infections, Asp... |
ORPHA:1018 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Bifid uterus |
OMIM:617466 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Hypercapnia, Respiratory insufficiency due to... |
OMIM:164310 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Sparse pubic hair, Ambiguous genitalia... |
ORPHA:90796 |
Gm1 Gangliosidosis |
|
Infectious encephalitis, Splenomegaly, Hepatosplenomegaly, Recurrent respiratory infections, Aspi... |
ORPHA:354 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Respiratory distress, Aspiration |
OMIM:618733 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Respiratory fa... |
ORPHA:79138 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Infectious encephalitis, Pustule, Pneumonia, Increased red blood cell count, Respirato... |
ORPHA:68 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
Cholera |
|
Tachypnea, Hyperventilation, Aspiration pneumonia |
ORPHA:173 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Parotitis, Uveitis, Maculopapular exanthema, Abnormal lung morpholo... |
ORPHA:797 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Neutropenia, Pneumonia, Rhiniti... |
ORPHA:95455 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Woodhouse-Sakati Syndrome |
|
Fine hair, Hypogonadotropic hypogonadism, Alopecia, Hypoplasia of the fallopian tube, Micropenis,... |
OMIM:241080 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Abnormal isohemagglutinin level, Recurrent otitis media, Anemia, Keratitis, Neutrop... |
ORPHA:99843 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Stridor, Pyoderma, Pneumonia, Pneumothorax, Anemia, Respiratory distress, Recurrent skin infectio... |
ORPHA:79404 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... |
OMIM:202010 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Pulmonary edema, Recurrent pneumonia... |
ORPHA:980 |
Japanese Encephalitis |
|
Infectious encephalitis, Abnormal pattern of respiration, Respiratory paralysis, Neutrophilia, In... |
ORPHA:79139 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress |
OMIM:618922 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytosis, Elevated circulating creatine kinase concentration, Pulmonary embol... |
ORPHA:94093 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration |
ORPHA:98760 |
Opitz Gbbb Syndrome, Type I |
|
Aspiration |
OMIM:300000 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Parotitis, Splenomegaly, Acute pancreatitis, Pancytopenia, Diffuse alveolar hemorrha... |
ORPHA:99827 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... |
ORPHA:2020 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Hirsutism, Frontal bald... |
ORPHA:90794 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Oeis Complex |
|
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... |
OMIM:258040 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia |
ORPHA:90790 |
Mucopolysaccharidosis Type 3 |
|
Obstructive sleep apnea, Chronic otitis media, Recurrent sinopulmonary infections, Splenomegaly, ... |
ORPHA:581 |
Plague |
|
Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped lip, Arthritis, Splenom... |
ORPHA:707 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Aspiration, Esophagitis, Obstructive sleep apnea |
ORPHA:96182 |
Pontocerebellar Hypoplasia Type 7 |
|
Optic atrophy, Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal ... |
ORPHA:284339 |
Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Aplasia of the uterus, Hypertrichosis, Urethral stenosis, Aplasia of the v... |
OMIM:614527 |
Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... |
OMIM:119500 |
Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Hepatosplenomegaly, Otitis media, Pneumonia |
ORPHA:309282 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Tachypnea, Apnea, Chronic lung disease, Recurrent respiratory inf... |
ORPHA:397715 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia, Otitis media, Pneumonia |
OMIM:122470 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low posterior hairline, Su... |
ORPHA:1521 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Aspiration pneumonia |
ORPHA:79255 |
Degcags Syndrome |
|
Leukopenia, Pneumonia, Rhinitis, Iron deficiency anemia, Congenital hypoplastic anemia, Pulmonary... |
OMIM:619488 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia |
ORPHA:845 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea |
ORPHA:2131 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina |
OMIM:271520 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent aspiration pneumonia, Obstructive sleep apnea, Pulmonary arterial hypertension |
OMIM:602535 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... |
ORPHA:94095 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina, Abnormal hair whorl |
ORPHA:457284 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:73230 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilat... |
ORPHA:69085 |
Adnp Syndrome |
|
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration |
ORPHA:404448 |
Chronic Graft Versus Host Disease |
|
Bronchiolitis obliterans, Keratoconjunctivitis sicca, Wheezing, Urinary bladder inflammation, Bro... |
ORPHA:99921 |
Opitz Gbbb Syndrome, Type Ii |
|
Aspiration, Pulmonary hypoplasia, Pulmonary arterial hypertension |
OMIM:145410 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Abnormal lun... |
ORPHA:646 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Cardiac-Urogenital Syndrome |
|
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism |
OMIM:618280 |
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 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Apnea |
ORPHA:98889 |
Miller-Dieker Lissencephaly Syndrome |
|
Recurrent aspiration pneumonia |
OMIM:247200 |
Yellow Fever |
|
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Obstructive sleep apnea, Pneumonia, Otitis media, Asthma, Recurrent respiratory infections |
ORPHA:353281 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Obstructive sleep apnea, Apnea, Breathing dysregulation, Anemia, Central sleep apnea, Hypoventila... |
ORPHA:438213 |
Semilobar Holoprosencephaly |
|
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Obstructive sleep apnea, Pneumonia, Aspiration, Otitis media, Asthma, Recurrent respiratory infec... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Obstructive sleep apnea, Pneumonia, Aspiration, Otitis media, Asthma, Recurrent respiratory infec... |
ORPHA:353277 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent aspiration pneumonia, Abscess, Fasciitis, Anemia, Septic arthritis, Osteomyelitis, Toot... |
ORPHA:642 |
Opitz Gbbb Syndrome |
|
Tracheomalacia, Stridor, Recurrent aspiration pneumonia |
ORPHA:2745 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Atopic dermatitis, Neonatal respiratory distress, Chronic otitis media, Recurrent otitis media, A... |
OMIM:619503 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... |
ORPHA:322 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Aplasia of the uterus, Hypertrichosis, Dry hair, Lumbosacral hirsutism, Facial hyper... |
OMIM:135900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Highly arched eyebrow, Aganglionic megacolon, Hirsutism, Bifid uterus, Low anterior ... |
OMIM:180849 |
Fontaine Progeroid Syndrome |
|
Recurrent aspiration pneumonia, Respiratory insufficiency, Pneumothorax, Pulmonary arterial hyper... |
OMIM:612289 |
Doors Syndrome |
|
Thrombocytosis, Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Alopecia of scalp, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorc... |
OMIM:130050 |
Okamoto Syndrome |
|
Bifid uterus, Facial hypertrichosis, Hypertrichosis, Extension of hair growth on temples to later... |
ORPHA:2729 |
Lafora Disease |
|
Recurrent aspiration pneumonia |
ORPHA:501 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Highly arched eyebrow, Aplasia of the uterus, Low posterior hairline, Cryptorchidism... |
OMIM:194190 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Absent eyelashes |
OMIM:256520 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal vagina morphology, Bifid uterus |
OMIM:236680 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Aplasia of the uterus, Hypoplastic nipples, Cryptorchidism, Anteriorly displaced gen... |
OMIM:276820 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent otitis media, Recurrent aspiration pneum... |
OMIM:147920 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Alopecia, Abnormality of hair texture, Uterine prolapse, Cryptorchi... |
ORPHA:286 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Norrie Disease |
|
Optic atrophy, Uterine rupture, Cryptorchidism |
ORPHA:649 |
Pallister-Killian Syndrome |
|
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Sparse eyelashes, Small scrotum, Al... |
OMIM:601803 |
Pmm2-Cdg |
|
Pericarditis, Reduced thyroxin-binding globulin, Respiratory distress, Hypoalbuminemia, Impaired ... |
ORPHA:79318 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |