Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Tracheopathia Osteoplastica |
|
Recurrent pneumonia, Cough, Wheezing, Dyspnea |
OMIM:189961 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Dyspnea, Weight loss, Cough |
ORPHA:64741 |
Immunodeficiency 34 |
|
Severe recurrent varicella, Recurrent mycobacterial infections |
OMIM:300645 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Recurrent infections, Respiratory distress |
ORPHA:171703 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Bronchiolitis, Obesity, Recurrent respiratory infections, Respiratory dis... |
OMIM:615993 |
Laryngeal Web, Familial |
|
Stridor, Recurrent upper respiratory tract infections, Respiratory distress |
OMIM:150360 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Tachypnea, Respiratory failure, Cough, Failure to t... |
OMIM:263000 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... |
OMIM:619466 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Recurrent Respiratory Papillomatosis |
|
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... |
ORPHA:60032 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Bronchopulmonary Dysplasia |
|
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... |
ORPHA:70589 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Disseminated nontuberculous mycobacterial infection, Crackles, Cough, Pleural effusion, Bronchiec... |
ORPHA:411703 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... |
ORPHA:922 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Respiratory distress |
OMIM:615595 |
Idiopathic Bronchiectasis |
|
Abnormal respiratory system physiology, Emphysema, Reduced FEV1/FVC ratio, Crackles, Acute infect... |
ORPHA:60033 |
Gaucher Disease Type 2 |
|
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Cough |
ORPHA:77260 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Lymphocytic interstitial pneumonia, Failure to thrive, Respiratory distress |
OMIM:245590 |
Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:266100 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Failure to thrive, Hyperventilation, ... |
ORPHA:91359 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fa... |
ORPHA:264675 |
Laryngotracheal Angioma |
|
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing |
ORPHA:137935 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Pleural effusion, Cough, Dyspnea, Respiratory distress, W... |
ORPHA:50251 |
Respiratory Distress Syndrome In Premature Infants |
|
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress |
OMIM:267450 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cryptogenic Organizing Pneumonia |
|
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound, Crackles,... |
ORPHA:1302 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Decreased body weight, Respiratory distress |
OMIM:300580 |
Severe Acute Respiratory Syndrome |
|
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... |
ORPHA:140896 |
Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... |
OMIM:254210 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Failure to thrive in infancy, Respiratory failure, Respiratory insufficiency... |
ORPHA:254875 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Nipah Virus Disease |
|
Infectious encephalitis, Recurrent pharyngitis, Cough, Respiratory distress |
ORPHA:99825 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Interstitial pneum... |
OMIM:610913 |
Ciliary Dyskinesia, Primary, 2 |
|
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... |
OMIM:606763 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... |
OMIM:605809 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:91130 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Failure to thrive, Respiratory distress, Res... |
OMIM:614399 |
Staphylococcal Necrotizing Pneumonia |
|
Nonproductive cough, Pneumonia, Hypoxemia, Severe infection, Tachypnea, Respiratory failure, Coug... |
ORPHA:36238 |
Acute Lung Injury |
|
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Dyspnea, Sepsis, Respiratory distress |
ORPHA:178320 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... |
ORPHA:1303 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Pneumocystosis |
|
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... |
ORPHA:723 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Atelectasis, Sepsis, Nasal flaring |
ORPHA:70587 |
X-Linked Centronuclear Myopathy |
|
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... |
ORPHA:596 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Failure to thrive, Respiratory distress |
OMIM:300934 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Respiratory distress |
ORPHA:26792 |
N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress |
OMIM:237310 |
Laryngotracheoesophageal Cleft |
|
Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respiratory distress |
ORPHA:2004 |
Congenital Laryngeal Web |
|
Stridor, Respiratory distress |
ORPHA:2374 |
Choanal Atresia |
|
Tracheomalacia, Abnormal nasal mucus secretion, Recurrent respiratory infections, Upper airway ob... |
ORPHA:137914 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Nonproductive cough, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Hypoxemia... |
ORPHA:79127 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Cough, Dyspnea, Recurrent respiratory infec... |
OMIM:610910 |
Anaplastic Thyroid Carcinoma |
|
Cough, Dyspnea, Stridor, Upper airway obstruction, Respiratory distress, Weight loss |
ORPHA:142 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exertion, Asthma, Crackles, Tac... |
OMIM:610978 |
Inhalational Anthrax |
|
Sepsis, Respiratory distress, Dyspnea |
ORPHA:247257 |
Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Tachypnea, Respiratory distress |
ORPHA:45452 |
Chitayat Syndrome |
|
Recurrent respiratory infections, Tracheomalacia, Respiratory distress |
OMIM:617180 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Stridor, Respiratory distre... |
OMIM:211530 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2759 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress |
OMIM:604377 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Respiratory distress |
OMIM:618426 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respiratory failu... |
OMIM:610921 |
Meconium Aspiration Syndrome |
|
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... |
ORPHA:70588 |
Nasolacrimal Duct Cyst |
|
Recurrent infections, Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress, S... |
ORPHA:141083 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... |
ORPHA:254864 |
Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress |
OMIM:618006 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Avian Influenza |
|
Nonproductive cough, Pneumonia, Hypoxemia, Infectious encephalitis, Tachypnea, Respiratory failur... |
ORPHA:454836 |
Stt3B-Cdg |
|
Failure to thrive, Respiratory distress |
ORPHA:370924 |
Thyroid Lymphoma |
|
Stridor, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:97285 |
Chronic Beryllium Disease |
|
Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Abnormality on pulmonary function... |
ORPHA:133 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age |
OMIM:616733 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Respiratory distress |
ORPHA:289916 |
Congenital Pulmonary Lymphangiectasia |
|
Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction, Respirat... |
ORPHA:2414 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Respiratory distress |
OMIM:615597 |
Tularemia |
|
Pneumonia, Pleural effusion, Meningitis, Cough, Respiratory distress, Brain abscess |
ORPHA:3392 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Respiratory distress |
OMIM:618201 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:261304 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Sepsis, Respiratory distress |
ORPHA:544503 |
Congenital Tracheomalacia |
|
Emphysema, Recurrent upper respiratory tract infections, Decreased peak expiratory flow, Tracheom... |
ORPHA:95430 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Upper airway obstruction, Respiratory distress |
ORPHA:100057 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:615042 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Weight loss, Respiratory distress |
ORPHA:79242 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cough, Respiratory distress, Dyspnea |
ORPHA:86812 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Recurrent respiratory infections, Failure to thrive, Respiratory distress |
ORPHA:329178 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Respiratory distress |
ORPHA:79312 |
Folinic Acid-Responsive Seizures |
|
Apnea, Respiratory distress |
ORPHA:79097 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia |
ORPHA:314655 |
Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Sleep apnea, Respiratory insufficiency, Pulmonary arterial hyperte... |
ORPHA:98915 |
Slc35A1-Cdg |
|
Pneumonia, Hypoxemia, Respiratory distress |
ORPHA:238459 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory insufficiency due to muscle weakness, Respiratory distress |
ORPHA:1143 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Failure to thrive, Respiratory distress |
OMIM:608799 |
Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Shwachman-Diamond Syndrome 1 |
|
Recurrent infections, Small for gestational age, Failure to thrive, Respiratory distress, Neonata... |
OMIM:260400 |
Nocardiosis |
|
Emphysema, Nonproductive cough, Weight loss, Pneumonia, Severe infection, Infectious encephalitis... |
ORPHA:31204 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Decreased body weight, Small for gestational age, Severe ... |
ORPHA:90051 |
Biotinidase Deficiency |
|
Recurrent viral infections, Recurrent fungal infections, Hyperventilation, Respiratory distress, ... |
ORPHA:79241 |
Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:148 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Recurrent respiratory infections, Episodic hypoventilation |
OMIM:301790 |
Acquired Methemoglobinemia |
|
Hypoxemia, Respiratory distress, Dyspnea |
ORPHA:464453 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Respiratory distress |
OMIM:184260 |
Infantile Krabbe Disease |
|
Recurrent infections, Respiratory failure, Failure to thrive, Cachexia, Respiratory distress |
ORPHA:206436 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Kniest Dysplasia |
|
Recurrent otitis media, Tracheomalacia, Respiratory distress |
OMIM:156550 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Failure to thrive, Respiratory... |
ORPHA:3309 |
Oromandibular Dystonia |
|
Weight loss, Respiratory distress |
ORPHA:93958 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:1145 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress |
ORPHA:927 |
Congenital Enterovirus Infection |
|
Infectious encephalitis, Pleural effusion, Meningitis, Sepsis, Respiratory distress |
ORPHA:292 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Failure to thrive, Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2707 |
Congenital Myasthenic Syndrome |
|
Central sleep apnea, Episodic respiratory distress, Recurrent respiratory infections, Obstructive... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Central sleep apnea, Episodic respiratory distress, Recurrent respiratory infections, Obstructive... |
ORPHA:98914 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Pneumonia, Severe infection, Infectious encephalitis, Tachypnea, Severe varicella zost... |
ORPHA:36234 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Asthma, Respiratory failure, Pulmonary arterial hypertension, Recurrent resp... |
ORPHA:209905 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Failure to thrive, Respiratory distress |
OMIM:619272 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Respiratory distress |
ORPHA:226313 |
Complete Atrioventricular Septal Defect |
|
Recurrent pneumonia, Crackles, Tachypnea, Elevated pulmonary artery pressure, Failure to thrive, ... |
ORPHA:1329 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Exertional dyspnea, Respiratory insufficiency, Dyspnea |
OMIM:614370 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Tachypnea, Respiratory failure, Dyspnea, Pulmonary arterial hypertension, Failure to thrive, Neon... |
OMIM:265120 |
Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... |
OMIM:615343 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Failure to thrive, Respiratory insufficiency due to muscle weakness, Respirat... |
OMIM:220110 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Episodic tachypnea, Dyspnea, Respiratory distress, Intermittent hyper... |
ORPHA:348 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Small for gestational age, Episodic tachypnea, Obesity, Tachypnea, Overweight, Respira... |
ORPHA:26793 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea |
ORPHA:330021 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent pneumonia, Recurrent respiratory infections, Sepsis, Respiratory distress, Recurrent br... |
OMIM:617303 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Respiratory distress |
OMIM:619383 |
Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Microlissencephaly-Micromelia Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:50810 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent infections, Pneumonia, Failure to thrive in infancy, Interstitial pneumonitis, Meningit... |
ORPHA:37042 |
Q Fever |
|
Pneumonia, Unusual infection, Infectious encephalitis, Cough, Meningitis, Pleural effusion, Respi... |
ORPHA:781 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Failure to thrive, Respiratory distress |
ORPHA:367 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Failure to thrive, Respi... |
ORPHA:308552 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory failure, Failure to thrive, Respiratory distress, Apnea, Central hypoventilation |
ORPHA:70474 |
Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Cough, Recurrent respiratory infections, Sepsis, Respiratory dist... |
ORPHA:537 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
Esophageal Atresia |
|
Restrictive ventilatory defect, Small for gestational age, Aspiration, Failure to thrive in infan... |
ORPHA:1199 |
Farber Disease |
|
Recurrent upper respiratory tract infections, Atelectasis, Failure to thrive, Respiratory distres... |
ORPHA:333 |
Cryptococcosis |
|
Pneumonia, Pleural effusion, Meningitis, Cough, Dyspnea, Sepsis, Respiratory distress |
ORPHA:1546 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Tetanus |
|
Tachypnea, Respiratory distress |
ORPHA:3299 |
Triosephosphate Isomerase Deficiency |
|
Respiratory failure, Failure to thrive, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Respiratory distress |
OMIM:300219 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Respiratory distress |
OMIM:251110 |
Craniofaciofrontodigital Syndrome |
|
Large for gestational age, Pulmonary arterial hypertension, Respiratory distress, Dyspnea |
ORPHA:363705 |
Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Respiratory distress |
OMIM:251100 |
Oculopharyngodistal Myopathy 1 |
|
Restrictive ventilatory defect, Aspiration, Hypercapnia, Reduced forced vital capacity, Respirato... |
OMIM:164310 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Airway obstruction, Pulmonary arterial hypertension, Recurrent respiratory infections, Stridor, R... |
ORPHA:505248 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Radio-Renal Syndrome |
|
Chylothorax, Respiratory failure, Pleural effusion, Dyspnea, Respiratory distress |
ORPHA:3015 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Tracheomalacia, Respiratory distress |
OMIM:608022 |
Mgat2-Cdg |
|
Failure to thrive, Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:79329 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy |
OMIM:612852 |
Lujo Hemorrhagic Fever |
|
Nonproductive cough, Crackles, Atelectasis, Rhinitis, Severe viral infection, Respiratory distress |
ORPHA:319213 |
Gaucher Disease, Perinatal Lethal |
|
Apnea, Decreased body weight, Respiratory distress |
OMIM:608013 |
Congenital Disorder Of Deglycosylation 1 |
|
Recurrent respiratory infections, Decreased body weight, Central sleep apnea, Respiratory distress |
OMIM:615273 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Pachyonychia Congenita |
|
Failure to thrive, Respiratory distress |
ORPHA:2309 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Respiratory failure, Dyspnea, Failure to thrive, Stridor, Recurrent urinary tract infe... |
ORPHA:79404 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Respiratory distress |
OMIM:300968 |
Japanese Encephalitis |
|
Infectious encephalitis, Irregular respiration, Abnormal pattern of respiration, Meningitis, Resp... |
ORPHA:79139 |
Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Pneumonia, Severe infection, Respiratory failure, Cough, Pleural effusion,... |
ORPHA:340 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Respiratory distress |
OMIM:202650 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Respiratory distress |
ORPHA:2519 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Sleep apnea, Respiratory failure, Atelectasis, Exertional dyspnea, Failure to thrive, Respiratory... |
ORPHA:365 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Tracheomalacia, Respiratory distress |
OMIM:217980 |
Auriculocondylar Syndrome |
|
Obstructive sleep apnea, Snoring, Respiratory distress |
ORPHA:137888 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Listeriosis |
|
Pneumonia, Unusual skin infection, Infectious encephalitis, Respiratory failure, Meningitis, Seps... |
ORPHA:533 |
Ramos-Arroyo Syndrome |
|
Severe failure to thrive, Decreased body weight, Respiratory distress |
ORPHA:1051 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Apnea, Recurrent respiratory infections, Failure to thrive, Respiratory distress |
ORPHA:17 |
Hereditary Angioedema Type 1 |
|
Inspiratory stridor, Respiratory distress, Dyspnea |
ORPHA:100050 |
Adnp Syndrome |
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Recurrent upper respiratory tract infections, Aspiration, Truncal obesity, Recurrent urinary trac... |
ORPHA:404448 |
Campomelic Dysplasia |
|
Recurrent upper respiratory tract infections, Tracheomalacia, Neonatal respiratory distress, Fail... |
OMIM:114290 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
OMIM:231680 |
Mogs-Cdg |
|
Apnea, Hypoventilation, Respiratory distress |
ORPHA:79330 |
Scimitar Syndrome |
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Cough, Pulmonary arterial hypertension, Recurrent respiratory infections, Pneumothorax, Respirato... |
ORPHA:185 |
Alternating Hemiplegia Of Childhood |
|
Apnea, Failure to thrive, Respiratory distress, Aspiration |
ORPHA:2131 |
Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Obesity, Respiratory distress |
ORPHA:177907 |
Coccidioidomycosis |
|
Pneumonia, Invasive fungal infection, Cough, Pleural empyema, Respiratory distress, Unusual CNS i... |
ORPHA:228123 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation, Apnea |
ORPHA:255210 |
Arterial Tortuosity Syndrome |
|
Respiratory failure, Cardiorespiratory arrest, Respiratory distress, Dyspnea |
ORPHA:3342 |
Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93259 |
Cocaine Intoxication |
|
Tachypnea, Cough, Hyperventilation, Pneumothorax, Respiratory distress, Wheezing |
ORPHA:90068 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring, Recurrent infections, Obesity |
ORPHA:466943 |
Idiopathic Hypereosinophilic Syndrome |
|
Asthma, Pulmonary embolism, Pleural effusion, Cough, Dyspnea, Failure to thrive, Respiratory dist... |
ORPHA:3260 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Failure to thrive, Pulmonary embolism, Respiratory distress |
ORPHA:79282 |
Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93260 |
Meier-Gorlin Syndrome 1 |
|
Emphysema, Respiratory distress, Failure to thrive, Small for gestational age |
OMIM:224690 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress |
OMIM:123790 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Restrictive ventilatory defect, Tracheomalacia, Atelectasis, Repeated pneumothoraces, Respiratory... |
ORPHA:536467 |
Ear-Patella-Short Stature Syndrome |
|
Failure to thrive, Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2554 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Neonatal respiratory distress, Recurrent respiratory infections, Respiratory distress, Respirator... |
OMIM:614748 |
Osteoglophonic Dysplasia |
|
Failure to thrive, Respiratory distress |
OMIM:166250 |
Colchicine Poisoning |
|
Cardiorespiratory arrest, Respiratory distress |
ORPHA:31824 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Respiratory distress |
ORPHA:210122 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory failure, Pneumothorax, Respiratory distress |
OMIM:266910 |
Congenital Tracheal Stenosis |
|
Dyspnea, Upper airway obstruction, Neonatal asphyxia, Respiratory distress, Wheezing |
ORPHA:141127 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration |
ORPHA:31826 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Failure to thrive in infancy |
ORPHA:798 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2556 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Respiratory distress |
OMIM:305100 |
Eisenmenger Syndrome |
|
Hypoxemia, Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Exertional d... |
ORPHA:97214 |
Arboleda-Tham Syndrome |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:616268 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Cough, Meningitis |
ORPHA:509 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Paroxysmal dyspne... |
ORPHA:99125 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Cough, Rhinitis, Chronic lung dise... |
ORPHA:95455 |
Gitelman Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:358 |
Cleidocranial Dysplasia |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:119600 |
Plague |
|
Respiratory distress, Acute infectious pneumonia, Sepsis, Meningitis |
ORPHA:707 |
Rubinstein-Taybi Syndrome 1 |
|
Recurrent upper respiratory tract infections, Truncal obesity, Failure to thrive, Obstructive sle... |
OMIM:180849 |
Aortic Arch Interruption |
|
Exertional dyspnea, Tachypnea, Respiratory distress |
ORPHA:2299 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:83617 |
Stüve-Wiedemann Syndrome |
|
Asthma, Apnea, Respiratory distress |
ORPHA:3206 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Failure to thrive, Small for gestational age |
ORPHA:2255 |
Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Respiratory distress |
OMIM:306955 |
Tuberous Sclerosis Complex |
|
Respiratory failure, Respiratory distress |
ORPHA:805 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Failure to thrive, Recurrent pneumonia, Sepsis, Respiratory distress |
ORPHA:99646 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
Doors Syndrome |
|
Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
Ulbright-Hodes Syndrome |
|
Respiratory failure, Pneumothorax, Respiratory distress |
ORPHA:3404 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Respiratory distress, Failure to thrive in infancy |
ORPHA:51608 |
Alström Syndrome |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Restrictive ventilatory defect... |
ORPHA:64 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Small for gestational age |
ORPHA:508488 |
Pmm2-Cdg |
|
Aspiration pneumonia, Failure to thrive, Respiratory distress |
ORPHA:79318 |