Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
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 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:300991 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma |
ORPHA:141152 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media |
OMIM:608971 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia |
OMIM:617638 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Lymphoma, Bronchiectasis |
OMIM:619126 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology |
ORPHA:280195 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:617127 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:1532 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology |
OMIM:617757 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... |
OMIM:616576 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Lymphoma, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower... |
ORPHA:397596 |
Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Bronchiectasis, Myelodysplasia |
OMIM:608184 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... |
OMIM:612387 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Dyspnea, Asthma, Chronic ... |
ORPHA:1163 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... |
OMIM:615518 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619111 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... |
ORPHA:662 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Verrucae |
OMIM:193670 |
Immunodeficiency, Common Variable, 2 |
|
Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, Conjunctivitis, Recurrent sinusitis, Rec... |
OMIM:240500 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia |
OMIM:266265 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:618161 |
Caspase 8 Deficiency |
|
Pneumonia, Recurrent sinopulmonary infections, Asthma, Eczema |
OMIM:607271 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia |
OMIM:611560 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:614815 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Lymphoma, Recurrent upper respira... |
ORPHA:436159 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Severe Combined Immunodeficiency, X-Linked |
|
Recurrent pneumonia, Skin rash, Pneumonia, Chronic oral candidiasis |
OMIM:300400 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... |
OMIM:244400 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI, Dilated fourth ventricle, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphoproliferative disorder, Recurrent skin infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... |
ORPHA:183675 |
Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia |
OMIM:608629 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... |
ORPHA:3392 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... |
ORPHA:70578 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... |
OMIM:618108 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R... |
OMIM:243700 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... |
ORPHA:31202 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Lymphoproliferative disorder, Pneumonia, Er... |
OMIM:614700 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... |
OMIM:618282 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/Degeneration... |
ORPHA:356961 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... |
OMIM:620296 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Gastrointestinal stroma tumor, Lymphoma, Bronchiecta... |
ORPHA:1572 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... |
OMIM:614878 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
Immunodeficiency 32B |
|
Pneumonia, Recurrent respiratory infections, Sinusitis, Bronchiectasis |
OMIM:226990 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:619306 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... |
ORPHA:370959 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619185 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Dandy-Walker malformation |
OMIM:611134 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma |
ORPHA:169160 |
Fusariosis |
|
Myositis, Fasciitis, Sinusitis, Maculopapular exanthema, Pneumonia, Hematological neoplasm, Kerat... |
ORPHA:228119 |
Orofaciodigital Syndrome Viii |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:300484 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis |
OMIM:614069 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenesis of th... |
OMIM:608091 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... |
OMIM:618131 |
Joubert Syndrome 14 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar t... |
OMIM:614424 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Salmonella osteomyelitis |
OMIM:209950 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... |
ORPHA:79128 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Lymphoproliferative disorder, Pneumonia, Skin rash, Lymphade... |
ORPHA:911 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:619562 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... |
ORPHA:163961 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Sinusitis, Bronchiectasis, Chronic bronchitis |
OMIM:242860 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of t... |
OMIM:213300 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Pyoderma, Emphysema, ... |
OMIM:242700 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Lymphadenitis, Chronic pulmonary obstruction, Recurrent pneumon... |
OMIM:618986 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:444072 |
Joubert Syndrome 38 |
|
Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia |
OMIM:619476 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Hodg... |
OMIM:615952 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Coach Syndrome 1 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:216360 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral candidia... |
OMIM:616433 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... |
ORPHA:36234 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Lymphoproliferative disorder, Pneumonia, Skin rash, Cough, L... |
ORPHA:276 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... |
ORPHA:139402 |
Bloom Syndrome |
|
Acute myeloid leukemia, Malignant genitourinary tract tumor, Skin rash, Pneumonia, Myelodysplasia... |
ORPHA:125 |
Nocardiosis |
|
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
Good Syndrome |
|
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, ... |
ORPHA:169105 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Joubert Syndrome With Oculorenal Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:2318 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
Joubert Syndrome With Renal Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:220497 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Dysgenesis of the cerebellar vermis... |
ORPHA:397715 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Pneumonia, Bronchitis |
OMIM:601005 |
Japanese Encephalitis |
|
Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology |
ORPHA:79139 |
Omenn Syndrome |
|
Lymphoma, Pneumonia, Thyroiditis, Erythroderma |
ORPHA:39041 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Lymphoma, Otitis media, Recur... |
OMIM:613179 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Bronchitis, Pneumonia, Keratitis, Lymphadenitis,... |
ORPHA:2552 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Osteom... |
ORPHA:37042 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI |
OMIM:612291 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
Joubert Syndrome With Ocular Defect |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:220493 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Joubert Syndrome 5 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, A... |
OMIM:610188 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Neoplasm, Pneumonia |
ORPHA:169090 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis |
ORPHA:231154 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... |
ORPHA:781 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... |
OMIM:243910 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... |
ORPHA:83471 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... |
OMIM:601495 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... |
OMIM:158310 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper respiratory... |
OMIM:600802 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, B-cell lymphoma, Asthma, R... |
OMIM:102700 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia |
OMIM:616202 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:616546 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology |
ORPHA:314621 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia |
ORPHA:8 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... |
ORPHA:73263 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Lung abscess, Pneumonia, Bronchitis, Glomeruloneph... |
ORPHA:1304 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
ORPHA:2754 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Orofaciodigital Syndrome Ix |
|
Hamartoma, Recurrent aspiration pneumonia |
OMIM:258865 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Spondyloenchondrodysplasia |
|
Enchondroma, Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia |
ORPHA:309288 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Recurrent upper respiratory tract infections, Pneumonia, Otitis media |
OMIM:602450 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:277170 |
Listeriosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ... |
ORPHA:533 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis |
OMIM:619479 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Rheumatoid arthritis... |
OMIM:607944 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin... |
ORPHA:2968 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Morbil... |
ORPHA:228123 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, B-cell lymphoma, Bronchitis, Pneumonia, Recurrent skin infections, Gast... |
OMIM:619381 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... |
ORPHA:810 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:2720 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Omenn Syndrome |
|
Pneumonia, Erythroderma |
OMIM:603554 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Pneumonia, Breast carcinoma |
ORPHA:90790 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Pulmonary fibrosis, Cough, R... |
ORPHA:79124 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia |
ORPHA:354 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Dyspnea, Interstitial pneumonitis, Squamous cell carcinoma of the skin, Pulmonary... |
OMIM:127550 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Skin rash, Pneumonia |
ORPHA:247691 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Chiari malformation, Cerebellar hypoplasia, Molar tooth sign on MRI, Da... |
OMIM:249000 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Gaucher Disease, Type Ii |
|
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia |
OMIM:230900 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Sinusitis, Skin rash, Eczema, Myelodysplasia, Pneumonia, Osteomyelitis, L... |
ORPHA:811 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Osteoarthritis, Lymphoma, Hodgkin lymphoma, Multiple myeloma, Nephritis |
ORPHA:2298 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Pleural empyema, Septic arthritis, ... |
ORPHA:544482 |
Chops Syndrome |
|
Tracheomalacia, Chronic lung disease, Anomalous pulmonary venous return, Aspiration pneumonia |
OMIM:616368 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial... |
ORPHA:340 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis |
ORPHA:454831 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
Wilson Disease |
|
Face of the giant panda sign |
OMIM:277900 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis, Re... |
OMIM:615846 |
Mirage Syndrome |
|
Myelodysplasia, Aspiration pneumonia |
OMIM:617053 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... |
ORPHA:79404 |
Cholera |
|
Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia |
OMIM:603467 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... |
ORPHA:449395 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |
Mucopolysaccharidosis, Type Vi |
|
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... |
OMIM:253200 |
Orofaciodigital Syndrome Xiv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dandy-Walker malfor... |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
|
Molar tooth sign on MRI, Dilated fourth ventricle, Dandy-Walker malformation |
ORPHA:434179 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... |
OMIM:602535 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media |
OMIM:122470 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Upper airway obstruction, Otitis... |
ORPHA:581 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
Gm1 Gangliosidosis Type 1 |
|
Aspiration pneumonia |
ORPHA:79255 |
Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Otitis media |
ORPHA:309282 |
Tay-Sachs Disease |
|
Aspiration pneumonia |
ORPHA:845 |
Coffin-Siris Syndrome |
|
Hepatoblastoma, Recurrent upper respiratory tract infections, Papillary thyroid carcinoma, Aspira... |
ORPHA:1465 |
Plague |
|
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, End... |
ORPHA:707 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Spinal cord tumor, Neoplasm, ... |
ORPHA:353281 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Degcags Syndrome |
|
Pneumonia, Asthma, Rhinitis, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease |
OMIM:619488 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Pulmonary embolism |
ORPHA:94093 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease |
ORPHA:444077 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Eczema, Pneumonia, Peritonitis, Cough, Recurrent otitis media, Status asthmati... |
OMIM:619991 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Otitis media, Aspiration, Men... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Otitis media, Aspiration, Men... |
ORPHA:353277 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal brainstem morphology |
ORPHA:464311 |
Niemann-Pick Disease Type C |
|
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia |
ORPHA:646 |
Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Pneumonia |
OMIM:264090 |
Doors Syndrome |
|
Respiratory distress, Capillary hemangioma, Aspiration pneumonia |
ORPHA:79500 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation |
ORPHA:438213 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |
Pmm2-Cdg |
|
Respiratory distress, Pericarditis, Aspiration pneumonia |
ORPHA:79318 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension |
OMIM:615342 |