Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respirator... |
OMIM:263000 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... |
OMIM:265120 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... |
OMIM:610910 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Airway obstruction, Reduced FEV1/... |
ORPHA:1303 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... |
ORPHA:91359 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... |
ORPHA:2004 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit... |
ORPHA:2302 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress |
ORPHA:141152 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... |
ORPHA:50251 |
Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Cyanosis, Tachypnea, Pneumonia, Respiratory tract infection, Hypoxemia, Respirat... |
ORPHA:70587 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... |
OMIM:178500 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... |
ORPHA:60032 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... |
OMIM:619611 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... |
ORPHA:79126 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Nonpro... |
ORPHA:79127 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Abnormal mucociliary clearance, Respiratory distress, Recurrent respiratory infec... |
OMIM:619466 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... |
ORPHA:922 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Pulmonary hypoplasia, Abnormal breath sound, Re... |
ORPHA:2257 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Elevated pulmonary artery ... |
ORPHA:199241 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Respiratory distress, Recurrent respiratory infections |
OMIM:615993 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough |
ORPHA:77260 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreas... |
ORPHA:747 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Acute Lung Injury |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Pneumonia, Hypoxemia... |
ORPHA:178320 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... |
ORPHA:2032 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia |
ORPHA:238459 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Cough, Wheezing, Bronchie... |
OMIM:613490 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Respiratory distress, Asthma, Cystic pattern on pulmonary HRCT, ... |
OMIM:610978 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... |
ORPHA:133 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Hypoxemia, Neonatal asphyxia,... |
ORPHA:70588 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... |
ORPHA:60025 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia |
OMIM:245650 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... |
OMIM:606763 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Pneumothorax, Cough, Productiv... |
ORPHA:454836 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Pneumothorax, Pulmonary arterial hype... |
OMIM:612387 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:142 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Pneumocystosis |
|
Multiple pulmonary cysts, Nonproductive cough, Interstitial pneumonitis, Respiratory insufficienc... |
ORPHA:723 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Pulmonary hemorrhage, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiec... |
ORPHA:2038 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usual interstitial pneumoni... |
OMIM:614742 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Crackles, Abnormal pleura morphology, Cough, Abnormal breath sound, Restrictive ventilatory defec... |
ORPHA:210136 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:98914 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... |
OMIM:211530 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Cyanosis, Respiratory failure requiring assisted ventilation, ... |
ORPHA:555874 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... |
ORPHA:1329 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... |
OMIM:620014 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary aterial intimal fibrosis, Cough, Pulmonary arterial medial hypertrophy, Dyspnea, Telang... |
OMIM:178600 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Pulmonary hypoplasia, Pulmonary arterial hypertension, Recurrent ... |
ORPHA:3309 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Neonatal as... |
ORPHA:141127 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy |
OMIM:300219 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Pulmonary artery... |
ORPHA:99106 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia, Jaundice, Neonatal death |
OMIM:231680 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... |
OMIM:615512 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Atrial Septal Defect, Coronary Sinus Type |
|
Anomalous pulmonary venous return, Cyanosis, Pneumonia, Dyspnea, Exertional dyspnea, Pulmonary ar... |
ORPHA:99104 |
Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Pulmonary hypoplasia, Death in infancy, Recurrent respiratory infections |
OMIM:184260 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema |
OMIM:617300 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Anomalous pulmonary venous return, Tachypnea |
ORPHA:860 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Pulmonary artery atresi... |
ORPHA:99050 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Absence Of The Pulmonary Artery |
|
Pulmonary edema, Nonproductive cough, Cyanosis, Orthopnea, Pulmonary hypoplasia, Recurrent pneumo... |
ORPHA:980 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Recurrent respiratory ... |
OMIM:301790 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:617895 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Telangiectasia |
OMIM:608799 |
Goodpasture Syndrome |
|
Increased DLCO, Nodular pattern on pulmonary HRCT, Cyanosis, Pulmonary hemorrhage, Crackles, Reti... |
OMIM:233450 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea, Pulmonary artery atresia |
ORPHA:3426 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... |
ORPHA:141083 |
Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... |
ORPHA:98915 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage |
ORPHA:335 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Urticaria, Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Respiratory i... |
ORPHA:183 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Cyanosis, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia |
OMIM:608013 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Pulmonary edema, Cyanosis, Tachypnea, Abnormal pattern of respiration |
ORPHA:31826 |
Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis |
ORPHA:51188 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... |
OMIM:220110 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Lip telangiectasia, Fi... |
OMIM:187300 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Cardiorespiratory arrest, Pulmonary hypoplasia |
OMIM:619879 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dyspnea |
ORPHA:100050 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea, Pneumonia, Jaundice |
ORPHA:26793 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Respiratory insufficiency, Generalized abnormality of skin |
ORPHA:367 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... |
ORPHA:308552 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema |
OMIM:261740 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... |
ORPHA:185 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Cyanosis |
OMIM:619580 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Abnormal pulmonary interstitial morphology, Recurrent pneumonia, Re... |
ORPHA:209905 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Conjunctival telangiectasia, Pulmonary arteriovenous malformation, Spontaneous, recurre... |
OMIM:610655 |
Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia |
OMIM:608022 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa, Prominent superficial veins, Premature skin wrinkl... |
ORPHA:363705 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent bronchopulmonary infections, Death in childhood, Recurrent pneumo... |
OMIM:617303 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:329178 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Erythema, Acrocyanosis |
ORPHA:343 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Pneumothorax, Respiratory failure |
OMIM:266910 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy |
OMIM:617478 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Pulmonary fibrosis |
OMIM:612852 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Ecchymosis, Respiratory tract infection, Pneumonia |
ORPHA:36234 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Respiratory failure, Central hypoventilation |
ORPHA:70474 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea, Aortopulmonary window |
ORPHA:2299 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Cyanosis, Mixed total ... |
ORPHA:99125 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Pulmona... |
OMIM:600376 |
Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
Poems Syndrome |
|
Restrictive ventilatory defect, Pleural effusion, Pulmonary arterial hypertension, Acrocyanosis, ... |
ORPHA:2905 |
Unilateral Polymicrogyria |
|
Epistaxis, Apnea, Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... |
ORPHA:3342 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema, Abnormal pleura morphology, Cough, Restrictive ventilatory defect... |
ORPHA:537 |
Q Fever |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Cough, Purpura, Pleural effusio... |
ORPHA:781 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Cyanosis, Respiratory insufficiency, Death in infancy, Respiratory failure |
OMIM:252010 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pleuritis, Productive cough, Pleural effusion, Pneumon... |
ORPHA:31204 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Pulmonary edema, Hypoventilation |
ORPHA:79330 |
Truncus Arteriosus |
|
Pulmonary edema, Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Abnorma... |
ORPHA:3384 |
Tarp Syndrome |
|
Apnea, Cyanosis, Pulmonary hypoplasia |
ORPHA:2886 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Cryptococcosis |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Cough, Pleural effusion, Pneumonia, Dyspnea |
ORPHA:1546 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Asthma, Urticaria, Vasculitis in the skin, Cutis marmorata, Pulmonary embol... |
ORPHA:3260 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery ... |
OMIM:616749 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... |
OMIM:164310 |
Farber Disease |
|
Respiratory distress, Respiratory insufficiency, Recurrent upper respiratory tract infections, No... |
ORPHA:333 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Pulmonary edema, Cough, Tachypnea |
ORPHA:137675 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Tachypnea, Wheezing, Cough, Hyperventilation, Pneumothorax... |
ORPHA:90068 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Petechiae, Pulmonary edema, Epistaxis, Cough, Ecchymosis, Pleural effusion,... |
ORPHA:340 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Erythema, Abnormal pulmonary interstitial morphology,... |
OMIM:614748 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspiration |
OMIM:223900 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Respiratory tract infect... |
ORPHA:365 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Asthma, Central hypoventilation, Cyanosis, Recurrent upper respiratory tract infections, Recurren... |
ORPHA:293987 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia |
OMIM:616271 |
Dermatomyositis |
|
Telangiectasia of the skin, Lung adenocarcinoma, Recurrent respiratory infections, Respiratory in... |
ORPHA:221 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Nonproductive cough, Crackles, Purpura, Ecchymosis, Rhinitis |
ORPHA:319213 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, Abnormal pat... |
ORPHA:79139 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa |
OMIM:123790 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Bruising susceptibility, Tracheomalacia, Repeated pneumothoraces, Respirato... |
ORPHA:536467 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Flushing, Aspiration |
ORPHA:2131 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia, Recurrent respiratory infec... |
ORPHA:37042 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Pulmonary arterial hypertension, Stridor, Recurrent res... |
ORPHA:505248 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Purpura, Petechiae |
ORPHA:2330 |
Listeriosis |
|
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia, Jaundice |
ORPHA:533 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... |
ORPHA:97214 |
Familial Dysautonomia |
|
Acrocyanosis, Abnormal pleura morphology, Recurrent respiratory infections |
ORPHA:1764 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:79329 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Pitt-Hopkins Syndrome |
|
Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Sleep apnea |
ORPHA:2896 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism |
ORPHA:79282 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema |
OMIM:224690 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure |
ORPHA:79404 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles |
OMIM:305100 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Tracheomalacia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:114290 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Recurrent respiratory infections |
ORPHA:17 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:177907 |
Coccidioidomycosis |
|
Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion |
ORPHA:228123 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Total anomalous pulmonary venous return |
OMIM:306955 |
Adnp Syndrome |
|
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration |
ORPHA:404448 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Generalized abnormality of skin, Respiratory tract infection, Pulmonary lym... |
ORPHA:805 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Apnea, Episodic respiratory distress, Hyperventilation |
ORPHA:255210 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Ramos-Arroyo Syndrome |
|
Respiratory distress |
ORPHA:1051 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... |
ORPHA:740 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Central sleep apnea, Recurrent respiratory infections |
OMIM:615273 |
Postinfectious Vasculitis |
|
Recurrent streptococcus pneumoniae infections, Vasculitis in the skin, Cutis marmorata, Palpable ... |
ORPHA:48435 |
Leptospirosis |
|
Respiratory distress, Pulmonary hemorrhage, Cough, Pleural effusion, Jaundice |
ORPHA:509 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections, Neonatal ... |
OMIM:616268 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Erythema, Respiratory failure |
ORPHA:2556 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Generalized abnormality of skin, Chronic lung disease, Respiratory failure ... |
ORPHA:95455 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Recurrent upper respiratory tract infections, Respiratory tract infection, ... |
OMIM:180849 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Pulmonary hypoplasia, Recurrent pneumonia |
ORPHA:798 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma |
ORPHA:3206 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:83617 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice |
ORPHA:51 |
Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:51608 |
Ulbright-Hodes Syndrome |
|
Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
ORPHA:3404 |
Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi... |
ORPHA:287 |
Doors Syndrome |
|
Aspiration pneumonia, Respiratory distress |
ORPHA:79500 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:216694 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis |
ORPHA:2255 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis |
OMIM:303600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis |
ORPHA:285 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Abnormal lung lobation |
ORPHA:508488 |
Alström Syndrome |
|
Respiratory distress, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respirat... |
ORPHA:64 |
Pmm2-Cdg |
|
Aspiration pneumonia, Respiratory distress, Abnormal subcutaneous fat tissue distribution |
ORPHA:79318 |