Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Respiratory insufficiency, Neonatal death, Arthrogryposis multiplex ... |
OMIM:611369 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... |
OMIM:615294 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... |
OMIM:208081 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Glaucoma-Sleep Apnea Syndrome |
|
Sleep apnea, Respiratory insufficiency |
ORPHA:2085 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... |
ORPHA:266 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
Asbestos Intoxication |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vital capacity, Diffuse ... |
ORPHA:2302 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia |
OMIM:615872 |
Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass o... |
ORPHA:91359 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... |
OMIM:253300 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Death in infancy, Facial palsy, Resp... |
OMIM:615348 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Cyanosis, Neonatal death, Ground-glass opacification, Tach... |
OMIM:265120 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... |
ORPHA:90117 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Atelectasis, Abnormal pulmona... |
ORPHA:70588 |
Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Flexion contracture, Respiratory insufficiency, Distal arthrogryposi... |
OMIM:614915 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification |
OMIM:619773 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Atelectasis, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... |
ORPHA:2902 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Scapular winging |
OMIM:617232 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Respiratory distress, Apnea, Nodular pattern on pulmonary HRCT, Nonspecific... |
OMIM:610921 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis |
OMIM:616726 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... |
OMIM:615067 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Ground-glass opacification, Pneumo... |
ORPHA:1302 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
Pontocerebellar Hypoplasia, Type 1C |
|
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... |
OMIM:616081 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Respiratory distress, Pulmonary infiltrates, Asthma, Cystic patt... |
OMIM:610978 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... |
OMIM:614399 |
Pneumocystosis |
|
Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infectious pneumo... |
ORPHA:723 |
Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... |
ORPHA:724 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Chronic sinusitis |
OMIM:300455 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Cystic pattern on pulmonary HRCT, Cyano... |
OMIM:610913 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn c... |
OMIM:611890 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Distal amyotrophy, Abnormal... |
OMIM:605253 |
Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Upper... |
ORPHA:98913 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... |
ORPHA:3348 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... |
OMIM:619334 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Diffuse reticular or finel... |
ORPHA:79127 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Myopathy, Myofibrillar, 5 |
|
Respiratory insufficiency, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasma... |
OMIM:609524 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:618781 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... |
OMIM:614370 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Diaphragmatic eventration, Degeneration of anterior horn cel... |
OMIM:604320 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... |
OMIM:619611 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Respiratory ... |
OMIM:609284 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Increased variabilit... |
OMIM:300717 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... |
ORPHA:36238 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Respiratory insufficiency |
ORPHA:3188 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respirator... |
ORPHA:178320 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea |
OMIM:610910 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Limb muscle weakness, Respiratory failure |
OMIM:600561 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory fai... |
OMIM:618291 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Ground-... |
ORPHA:199241 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Decreased nerve conduction veloci... |
ORPHA:90103 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Recurrent aspiration pneumoni... |
ORPHA:2590 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Crackles, Cough, Decreased DLCO, Restrictive ventilatory defect, ... |
ORPHA:747 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Jaundice |
ORPHA:890 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:234810 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Stridor, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscl... |
OMIM:606071 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... |
ORPHA:454836 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... |
ORPHA:99931 |
Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Transient pulmonary infiltrates |
OMIM:178550 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Respiratory failure |
OMIM:616794 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... |
OMIM:300770 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary infiltrates, Pulmona... |
ORPHA:90060 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opacification, Bronchiectasis,... |
ORPHA:2032 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... |
ORPHA:133 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Flexion contractur... |
OMIM:301830 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Res... |
OMIM:616867 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Hyperekplexia 4 |
|
Distal arthrogryposis, Respiratory failure, Flexion contracture, Camptodactyly |
OMIM:618011 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Neonatal death, Death in infancy |
OMIM:300219 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... |
OMIM:612954 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neo... |
ORPHA:217563 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory insufficiency, Respiratory failure, Knee flexion contracture |
OMIM:313420 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:617248 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... |
ORPHA:2257 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:615330 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy, Apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:265450 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Respiratory insufficiency, Respiratory failure |
OMIM:276950 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pulmonary infiltrates, Pneumothorax, Restrictive ventilatory defect, Emphysema, H... |
OMIM:612387 |
Bronchogenic Cyst |
|
Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea |
ORPHA:2357 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Atelectasis |
ORPHA:254361 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Respiratory failure, Motor... |
ORPHA:803 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Ragged-red musc... |
ORPHA:352447 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Nonproduc... |
ORPHA:60025 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Wheezing, Chronic rhinitis, Atelectasis, Chronic sinusitis, Productive cough,... |
ORPHA:244 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Flexion contracture, Hypoventilation, Weakness of f... |
ORPHA:70 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Flexion contracture, Hypoventilation, Calf muscle hypertrophy, Muscular d... |
OMIM:310200 |
Circumvallate Placenta Syndrome |
|
Respiratory insufficiency |
OMIM:215550 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... |
ORPHA:171430 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death |
OMIM:601612 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:273730 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... |
ORPHA:1145 |
Congenital Lethal Erythroderma |
|
Respiratory insufficiency, Urticaria, Death in infancy |
ORPHA:1954 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea |
ORPHA:168486 |
Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Respiratory failure |
ORPHA:71211 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Respiratory insufficiency, Type 1 muscle fibe... |
OMIM:605355 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona... |
ORPHA:95430 |
Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Pulmonary infiltrates, Purpura, Cough |
ORPHA:375 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Abnormality of masticatory muscle, Respiratory failure, Abnormality of somatosenso... |
ORPHA:98755 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Leigh Syndrome |
|
Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Neonatal death, Tracheomalacia |
OMIM:245650 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pneumonia, Bronchiectasis, ... |
OMIM:244400 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Scedosporiosis |
|
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pneumonia, Abnormal respiratory syst... |
ORPHA:449280 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Aspergillosis |
|
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Diffuse reticular or fin... |
ORPHA:1163 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp... |
OMIM:253310 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency... |
OMIM:615512 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Pulmonary infiltrates, Cough |
OMIM:619468 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Respiratory failure, Flexion contracture, Distal amyotrophy |
OMIM:616505 |
Tularemia |
|
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... |
ORPHA:3392 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Weakness of facial musculature, Death in childhood, Optic atrophy, Increase... |
OMIM:220110 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Generalized abnormality of skin, Cough |
ORPHA:2314 |
Niemann-Pick Disease, Type C2 |
|
Jaundice, Death in childhood, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... |
OMIM:607625 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Death in childhood, Respiratory failure, Tachypnea |
OMIM:615838 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Flexion contracture, Respiratory insufficiency, Death in inf... |
OMIM:615368 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in childhood, Respiratory insufficiency, Death in adolescence, Death in infancy |
OMIM:618042 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Scapuloperoneal amyot... |
OMIM:181405 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Snakebite Envenomation |
|
Respiratory paralysis, Erythema, Angioedema, Respiratory failure, Ecchymosis, Epistaxis |
ORPHA:449285 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Crackles, Parenchymal consolidation, Ground-glass opacification, W... |
ORPHA:79128 |
Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... |
ORPHA:2038 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Eosinophilia, Familial |
|
Pulmonary infiltrates |
OMIM:131400 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Atelectasis, Aspiration, Hypoventilation, Intercostal muscle weakness,... |
ORPHA:258 |
Farber Disease |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Nodular pattern on pulmo... |
ORPHA:333 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609981 |
Goodpasture Syndrome |
|
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Cyanosis, Crackles, Ret... |
OMIM:233450 |
Niemann-Pick Disease, Type B |
|
Dyspnea, Decreased DLCO, Diffuse reticular or finely nodular infiltrations |
OMIM:607616 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Respiratory failure |
ORPHA:363400 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Respiratory failure, Death in infancy, Flexion contracture |
ORPHA:1194 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic neuropathy, Death in childhood, Respiratory insufficiency, Optic atrophy, Rhabdomyolysis, R... |
OMIM:610505 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy |
OMIM:617186 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... |
ORPHA:2140 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Hypereosinophilic Syndrome, Idiopathic |
|
Pulmonary infiltrates |
OMIM:607685 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Optic atrophy, Elbow flexion contracture, Arthrogryp... |
OMIM:617301 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Poliomyelitis |
|
Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Myelitis, Lower limb muscle w... |
ORPHA:2912 |
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 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... |
ORPHA:538 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Nonproductive cough, Crackles, Atelectasis, Purpura, Ecchymosis, Rhinitis |
ORPHA:319213 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure |
OMIM:618278 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Respiratory insufficiency, Pulmonary arterial hypertension, Respirat... |
OMIM:613845 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Optic atrophy, Respiratory failure, Arthrogry... |
ORPHA:496641 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Flexion contr... |
OMIM:156530 |
Bickerstaff Brainstem Encephalitis |
|
Weakness of facial musculature, Abnormality of the autonomic nervous system, Decreased motor nerv... |
ORPHA:79138 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis |
OMIM:261680 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Peripartum Cardiomyopathy |
|
Asthma, Left ventricular hypertrophy, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertiona... |
ORPHA:563 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Atelectasis, Exertional ... |
ORPHA:365 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Flexion contractur... |
ORPHA:2020 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Increased intramyocellular lipid droplets, Rhabdomyolysis, Respiratory failure, Restrictive venti... |
ORPHA:26791 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Macroglossia, Left ventricular hypertrophy, Respiratory insufficiency, Resp... |
ORPHA:308552 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Pulmonary infiltrates, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, ... |
ORPHA:183 |
Zygomycosis |
|
Pulmonary infiltrates, Sinusitis, Air crescent sign, Acute infectious pneumonia, Parenchymal cons... |
ORPHA:73263 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Atelectasis, Neonatal death |
OMIM:269860 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... |
ORPHA:1329 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage |
ORPHA:335 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility |
ORPHA:3226 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Bruising susceptibility, Tracheomalacia, Repeated pneumothoraces, Respirato... |
ORPHA:536467 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis |
ORPHA:51188 |
Infantile Krabbe Disease |
|
Respiratory distress, Decreased nerve conduction velocity, Optic atrophy, Shoulder girdle muscle ... |
ORPHA:206436 |
Griscelli Syndrome Type 2 |
|
Pulmonary infiltrates, Petechiae, Jaundice, Premature graying of hair |
ORPHA:79477 |
Granulomatous Disease, Chronic, X-Linked |
|
Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion |
OMIM:306400 |
Letterer-Siwe Disease |
|
Dyspnea, Pulmonary infiltrates, Jaundice |
OMIM:246400 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure |
ORPHA:3240 |
Immunodeficiency 27A |
|
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia |
OMIM:209950 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Respiratory insufficiency, Respiratory failure, Myopathy |
OMIM:609015 |
Boutonneuse Fever |
|
Petechiae, Respiratory failure |
ORPHA:83313 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Increased muscle lipid content, Elbow flexion contracture, Deat... |
OMIM:608836 |
Absence Of The Pulmonary Artery |
|
Nonproductive cough, Cyanosis, Orthopnea, Abnormal pulmonary thoracic imaging finding, Recurrent ... |
ORPHA:980 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Relapsing Polychondritis |
|
Erythema, Abnormal pattern of respiration, Cough, Atelectasis, Purpura, Dyspnea |
ORPHA:728 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Respiratory insufficiency, Lower limb muscle weakness, Skeletal myo... |
ORPHA:746 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Central hypoventilation, Optic atrophy, Respiratory failure |
ORPHA:70474 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal morphology of musculature of pharynx, Lower limb amyotrophy, Respiratory failure |
ORPHA:280210 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Camptodactyly |
OMIM:618804 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure |
OMIM:619847 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:3309 |
Osteopetrosis, Autosomal Recessive 5 |
|
Limb hypertonia, Optic atrophy, Optic disc pallor, Respiratory failure, Facial palsy, Stillbirth |
OMIM:259720 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Dyspnea, Exertio... |
ORPHA:99106 |
Whim Syndrome |
|
Sinusitis, Atelectasis, Recurrent pneumonia, Pneumonia, Bronchiectasis |
ORPHA:51636 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic neuropathy, Apnea, Respiratory insufficiency, Increased intramyocellular lipid droplets, Op... |
OMIM:252010 |
Sea-Blue Histiocytosis |
|
Pulmonary infiltrates, Petechiae |
ORPHA:158029 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Erythema, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... |
ORPHA:420741 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pulmonary infiltrates, Interstitial pneumonitis, Erythema, Cough, Angioedema, Dyspnea |
ORPHA:139402 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... |
ORPHA:99104 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Cyanosis, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Legionnaires Disease |
|
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Jaundice |
ORPHA:549 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:618329 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Fusariosis |
|
Pulmonary infiltrates, Sinusitis, Air crescent sign, Parenchymal consolidation, Ground-glass opac... |
ORPHA:228119 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Acrocyanosis, Erythema |
ORPHA:343 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Cyanosis |
OMIM:619580 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
Cystic Echinococcosis |
|
Asthma, Urticaria, Abnormal pulmonary thoracic imaging finding, Jaundice |
ORPHA:400 |
Leigh Syndrome |
|
Multiple joint contractures, Optic atrophy, Respiratory failure, Abnormal pattern of respiration,... |
ORPHA:506 |
Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Cyanosis, Pneumothorax |
OMIM:619879 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Wrist flexion ... |
ORPHA:254528 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
Thymoma, Familial |
|
Respiratory insufficiency |
OMIM:274230 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Respiratory failure |
ORPHA:88618 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia, Respiratory insufficiency, Spina bifida, Death in infancy |
ORPHA:1120 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspnea, Pulmonary infiltrates, Pulmonary arterial hypertension, Telangiectasia of the skin |
ORPHA:220393 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter... |
ORPHA:209905 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Pulmonary infiltrates |
OMIM:618394 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Respiratory failure |
OMIM:616538 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Respiratory failure |
ORPHA:445038 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hemothorax, Cyan... |
OMIM:187300 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death |
OMIM:266910 |
Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... |
ORPHA:3342 |
Waldenström Macroglobulinemia |
|
Pulmonary infiltrates, Urticaria, Cutis marmorata, Respiratory insufficiency, Purpura, Pleural ef... |
ORPHA:33226 |
Gaucher Disease, Type I |
|
Dyspnea, Pulmonary infiltrates, Pulmonary arterial hypertension, Epistaxis |
OMIM:230800 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
22Q11.2 Deletion Syndrome |
|
Asthma, Atelectasis, Purpura, Chronic pulmonary obstruction |
ORPHA:567 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Respiratory failure, Pleural effusion |
ORPHA:679 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Fragile skin |
ORPHA:158687 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
Oculocerebrorenal Syndrome Of Lowe |
|
Respiratory insufficiency, Atelectasis, Death in infancy |
ORPHA:534 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Poems Syndrome |
|
Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, Acrocyanosis, ... |
ORPHA:2905 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy |
OMIM:617478 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Respiratory insufficiency, Respiratory failure |
OMIM:304120 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp... |
OMIM:610655 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Steinert Myotonic Dystrophy |
|
Facial diplegia, Weakness of facial musculature, Respiratory insufficiency, Pelvic girdle muscle ... |
ORPHA:273 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Neonatal respirato... |
ORPHA:2847 |
Granulomatosis With Polyangiitis |
|
Pulmonary infiltrates, Sinusitis, Respiratory insufficiency, Cough, Rhinorrhea |
OMIM:608710 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Petechiae, Cough, Respiratory failure, Pneumonia, Pleural effusion, Ecchymo... |
ORPHA:340 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Optic atrophy, Aspiration |
OMIM:618651 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... |
ORPHA:31204 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan... |
OMIM:600376 |
Dermatomyositis |
|
Telangiectasia of the skin, Diffuse reticular or finely nodular infiltrations, Respiratory insuff... |
ORPHA:221 |
Bloom Syndrome |
|
Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Telangiectasia, Rhinitis, R... |
ORPHA:125 |
Listeriosis |
|
Respiratory distress, Miscarriage, Jaundice, Pneumonia, Respiratory failure |
ORPHA:533 |
Niemann-Pick Disease, Type A |
|
Prolonged neonatal jaundice, Diffuse reticular or finely nodular infiltrations |
OMIM:257200 |
Sarcoidosis, Susceptibility To, 1 |
|
Bronchiectasis, Pulmonary infiltrates, Cough, Restrictive ventilatory defect, Emphysema, Hypoxemi... |
OMIM:181000 |
Unilateral Polymicrogyria |
|
Apnea, Cyanosis, Epistaxis |
ORPHA:268943 |
Majeed Syndrome |
|
Pulmonary infiltrates, Cough |
ORPHA:77297 |
Tarp Syndrome |
|
Apnea, Cyanosis |
ORPHA:2886 |
Costello Syndrome |
|
Macroglossia, Tracheomalacia, Respiratory insufficiency, Vestibular schwannoma, Rhabdomyosarcoma,... |
OMIM:218040 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Death ... |
OMIM:300868 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Cough, Tachypnea |
ORPHA:137675 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension |
ORPHA:99050 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Asthma, Central hypoventilation, Cyanosis, Cardiorespiratory arrest, Hypoventilation, Obstructive... |
ORPHA:293987 |
Digeorge Syndrome |
|
Asthma, Chronic pulmonary obstruction, Recurrent sinusitis, Atelectasis, Recurrent pneumonia |
OMIM:188400 |
Niemann-Pick Disease Type C |
|
Pulmonary infiltrates, Jaundice, Aspiration pneumonia, Respiratory insufficiency, Respiratory fai... |
ORPHA:646 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary infiltrates, Acute respiratory distress syndrome, Respiratory insufficiency, Chronic lu... |
OMIM:620005 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea |
ORPHA:2299 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Asthma, Pulmonary infiltrates, Urticaria, Vasculitis in the skin, Cutis mar... |
ORPHA:3260 |
Graft Versus Host Disease |
|
Pulmonary infiltrates, Jaundice, Pneumonia |
ORPHA:39812 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure |
ORPHA:79404 |
Abetalipoproteinemia |
|
Distal lower limb muscle weakness, Respiratory failure, Myopathy |
ORPHA:14 |
Craniorachischisis |
|
Myelomeningocele, Spinal dysraphism, Cervical spina bifida, Congenital diaphragmatic hernia |
ORPHA:63260 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Diastasis recti, Flexion contracture of thumb, Miscarriage, Flexion contracture, Macroglossia, Ca... |
ORPHA:96334 |
Nijmegen Breakage Syndrome |
|
Rhabdomyosarcoma, Recurrent pneumonia, Skeletal muscle atrophy, Respiratory failure |
ORPHA:647 |
Myhre Syndrome |
|
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Respiratory insufficiency, Camptodac... |
OMIM:139210 |
Short Rib-Polydactyly Syndrome |
|
Respiratory failure |
ORPHA:1505 |
Pitt-Hopkins Syndrome |
|
Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Sleep apnea |
ORPHA:2896 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Camptodactyly of finger, Respiratory failure |
ORPHA:2554 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary infiltrates, Wheezing, Tachypnea, Cough, Hyperventilation, Pneumo... |
ORPHA:90068 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Congenital diaphragmatic hernia |
ORPHA:2556 |
Granulomatosis With Polyangiitis |
|
Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Cough... |
ORPHA:900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure |
OMIM:613658 |
Primary Sjögren Syndrome |
|
Airway obstruction, Lymphocytic interstitial pneumonia, Nonproductive cough, Cutis marmorata, Pur... |
ORPHA:289390 |
Autosomal Recessive Polycystic Kidney Disease |
|
Respiratory failure, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Jaundice |
ORPHA:731 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... |
ORPHA:97214 |
Vexas Syndrome |
|
Pulmonary infiltrates |
OMIM:301054 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... |
ORPHA:740 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Generalized abnormality of skin, Respiratory failure |
ORPHA:805 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Pulmonary infiltrates |
OMIM:606367 |
Coccidioidomycosis |
|
Respiratory distress, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidation, Cough, P... |
ORPHA:228123 |
Chronic Graft Versus Host Disease |
|
Pulmonary infiltrates, Airway obstruction, Poor wound healing, Erythema, Cough, Wheezing, Pneumot... |
ORPHA:99921 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis |
OMIM:306955 |
Postinfectious Vasculitis |
|
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Acrocyanosis |
ORPHA:48435 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Cyanosis, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failu... |
ORPHA:99125 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Optic atrophy, Death in infancy, Meningocele, Spina bifida |
ORPHA:991 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Respiratory failure, Emphysema |
ORPHA:500150 |
Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Truncus Arteriosus |
|
Cyanosis, Tachypnea |
ORPHA:3384 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice |
ORPHA:51 |
Neuroblastoma, Susceptibility To, 1 |
|
Mediastinal mass |
OMIM:256700 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Bruising susceptibility, Repeated... |
OMIM:130050 |
Autoimmune Lymphoproliferative Syndrome |
|
Pulmonary infiltrates, Urticaria, Bruising susceptibility |
ORPHA:3261 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi... |
ORPHA:287 |
Carney Triad |
|
Pulmonary infiltrates |
ORPHA:139411 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure |
ORPHA:3404 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:51608 |
Behçet Disease |
|
Pulmonary infiltrates, Pulmonary embolism, Pleural effusion |
ORPHA:117 |
Malt Lymphoma |
|
Pulmonary infiltrates |
ORPHA:52417 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Agenesis of the diaphragm |
OMIM:601027 |
Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis |
OMIM:303600 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis |
ORPHA:285 |
Hydrolethalus Syndrome 1 |
|
Agenesis of the diaphragm, Stillbirth |
OMIM:236680 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Elbow flexion contracture, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:615065 |