Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... |
ORPHA:70588 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-... |
ORPHA:79126 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Immunodeficiency 54 |
|
Chromosome breakage, Recurrent respiratory infections, Short stature, Postnatal growth retardatio... |
OMIM:609981 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... |
OMIM:619057 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... |
ORPHA:2902 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchang... |
OMIM:618097 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... |
OMIM:609054 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Death in infancy, Miscarriage, Short stature, Cryptorchidism, Neonatal death |
OMIM:613390 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... |
OMIM:620326 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira... |
OMIM:245400 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, Neonatal d... |
OMIM:611890 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... |
ORPHA:99931 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Abnormality of chromosome stability |
OMIM:614082 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel... |
OMIM:300219 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... |
ORPHA:36238 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... |
OMIM:620233 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... |
OMIM:608647 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Fanconi Anemia, Complementation Group D1 |
|
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Severe short stature, Respiratory insufficiency |
OMIM:313420 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Short stature, Delayed pub... |
ORPHA:100 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhiniti... |
OMIM:244400 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... |
ORPHA:449280 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure, Death in infancy |
OMIM:610678 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Cryptorchidism, Growth delay, Respiratory failure, Intrauterine growth retardation |
ORPHA:1194 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ... |
OMIM:604320 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Farber Disease |
|
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... |
ORPHA:333 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardation, Cryptorch... |
OMIM:210900 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Abnormality of chromosome stability, Abnormal lung lobation, Growth delay, Intr... |
OMIM:300514 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Radial-Renal Syndrome |
|
Chromosome breakage, Short stature |
OMIM:179280 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Fanconi Anemia, Complementation Group T |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Sinusitis |
ORPHA:908 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Decreased mitocho... |
ORPHA:352447 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Intrauterine growth... |
OMIM:269860 |
Riddle Syndrome |
|
Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ... |
ORPHA:420741 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Short stature |
OMIM:617883 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Atelectasis, Recurrent pneumonia, Growth delay, Pulmonary hypoplasia, Death in ... |
OMIM:613177 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re... |
OMIM:620296 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Fanconi Anemia, Complementation Group C |
|
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:227645 |
Metatropic Dysplasia |
|
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... |
OMIM:156530 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
Fanconi Anemia, Complementation Group Q |
|
Growth delay, Chromosome breakage, Short stature |
OMIM:615272 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:618804 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... |
ORPHA:536467 |
Fanconi Anemia, Complementation Group E |
|
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:600901 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... |
ORPHA:98905 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... |
OMIM:616482 |
Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Short stature |
ORPHA:2268 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Fanconi Anemia, Complementation Group A |
|
Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:227650 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Short stature, Intercostal muscle weakness |
OMIM:606071 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... |
ORPHA:365 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis |
ORPHA:319213 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Pneumonia, Cryptorchidism, Intrauterine growth retardation, Chromosomal breakage i... |
OMIM:603467 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
Lig4 Syndrome |
|
Growth delay, Cryptorchidism, Abnormality of chromosome stability |
ORPHA:99812 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... |
ORPHA:555874 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Respiratory failure, Short stature, Death in childhood |
OMIM:619847 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Intrauterine growth retardation, Short stature, Cryptorchidism |
OMIM:617052 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Respiratory failure, Cryptorchidism |
OMIM:620327 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... |
ORPHA:209905 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Zygomycosis |
|
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni... |
ORPHA:73263 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Short stature |
ORPHA:1861 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema |
ORPHA:542323 |
Snakebite Envenomation |
|
Respiratory failure, Respiratory paralysis, Epistaxis |
ORPHA:449285 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Growth delay, Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Fanconi Anemia, Complementation Group P |
|
Growth delay, Cryptorchidism, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Respiratory failure |
ORPHA:3226 |
Fanconi Anemia, Complementation Group L |
|
Growth delay, Intrauterine growth retardation, Chromosome breakage, Chromosomal breakage induced ... |
OMIM:614083 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Respiratory failure |
OMIM:616505 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In... |
OMIM:610505 |
Fanconi Anemia, Complementation Group U |
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Growth delay, Chromosome breakage |
OMIM:617247 |
Amyotrophic Lateral Sclerosis |
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Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
3-Methylglutaconic Aciduria Type 7 |
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Growth delay, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Fanconi Anemia, Complementation Group R |
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Growth delay, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Radio-Renal Syndrome |
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Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
Bloom Syndrome |
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Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Oligozoospermi... |
ORPHA:125 |
Fanconi Anemia, Complementation Group N |
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Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Triosephosphate Isomerase Deficiency |
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Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Fibrodysplasia Ossificans Progressiva |
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Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
Severe Congenital Nemaline Myopathy |
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Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Nijmegen Breakage Syndrome |
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Recurrent sinopulmonary infections, Abnormality of chromosome stability, Recurrent respiratory in... |
ORPHA:647 |
Oculocerebrorenal Syndrome Of Lowe |
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Death in infancy, Recurrent respiratory infections, Short stature, Cryptorchidism, Atelectasis, R... |
ORPHA:534 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
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Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
22Q11.2 Deletion Syndrome |
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Short stature, Cryptorchidism, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Ate... |
ORPHA:567 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest |
ORPHA:26791 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Revesz Syndrome |
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Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:268130 |
Fanconi Anemia, Complementation Group D2 |
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Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced... |
OMIM:227646 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
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Death in infancy, Respiratory failure |
OMIM:614862 |
Lethal Congenital Contracture Syndrome 2 |
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Respiratory failure |
OMIM:607598 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Growth delay, Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent ... |
ORPHA:496641 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Respiratory failure, Short stature |
ORPHA:280210 |
Lethal Acantholytic Erosive Disorder |
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Intrauterine growth retardation, Respiratory failure |
ORPHA:158687 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure |
ORPHA:254528 |
Cartilage-Hair Hypoplasia |
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Abnormality of chromosome stability, Rhizomelia, Disproportionate short-limb short stature, Respi... |
ORPHA:175 |
3-Methylglutaconic Aciduria, Type Viii |
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Death in infancy, Apnea, Growth delay, Hypopnea, Respiratory failure, Neonatal death, Respiratory... |
OMIM:617248 |
Boutonneuse Fever |
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Respiratory failure |
ORPHA:83313 |
Geleophysic Dysplasia 3 |
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Dyspnea, Respiratory failure, Short stature, Pneumonia |
OMIM:617809 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Growth delay, Respiratory failure |
ORPHA:88618 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Growth delay, Respiratory failure |
ORPHA:3240 |
Leigh Syndrome |
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Growth delay, Intrauterine growth retardation, Respiratory failure, Abnormal pattern of respiration |
ORPHA:506 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Short stature, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, ... |
OMIM:613658 |
Relapsing Polychondritis |
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Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough |
ORPHA:728 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Osteopetrosis, Autosomal Recessive 5 |
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Growth delay, Respiratory failure, Stillbirth, Short stature |
OMIM:259720 |
Infantile Krabbe Disease |
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Respiratory distress, Respiratory failure |
ORPHA:206436 |
Nocardiosis |
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Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Glycine Encephalopathy With Normal Serum Glycine |
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Respiratory failure, Apnea |
OMIM:617301 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Severe short stature, Dyspnea, Cryptorchidism, Growth delay, Respiratory fa... |
ORPHA:2554 |
Mitochondrial Trifunctional Protein Deficiency |
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Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Arterial Tortuosity Syndrome |
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Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... |
ORPHA:3342 |
Fanconi Anemia |
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Abnormality of chromosome stability, Short stature, Cryptorchidism, Growth delay, Azoospermia, In... |
ORPHA:84 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Death in infancy, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure |
OMIM:252010 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Congenital Fiber-Type Disproportion Myopathy |
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Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Poliomyelitis |
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Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Digeorge Syndrome |
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Short stature, Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Hydrocele... |
OMIM:188400 |
Malignant Atrophic Papulosis |
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Pleural effusion, Respiratory failure |
ORPHA:679 |
Myhre Syndrome |
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Short stature, Cryptorchidism, Respiratory insufficiency, Birth length less than 3rd percentile, ... |
OMIM:139210 |
Hemorrhagic Fever-Renal Syndrome |
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Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
Joubert Syndrome 21 |
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Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Short stature, Miscarriage, Postnatal growth retardation, Cryptorchidism, Pulmonary artery stenos... |
ORPHA:96334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Respiratory failure |
OMIM:616538 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Listeriosis |
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Respiratory distress, Respiratory failure, Miscarriage, Pneumonia |
ORPHA:533 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failure |
ORPHA:79404 |
Meningioma |
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Progressive pulmonary function impairment, Abnormality on pulmonary function testing, Chromosomal... |
ORPHA:2495 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Postnatal growth retardation, Cryptorchidism, Pneumothorax, Birth length le... |
ORPHA:3404 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Death in infancy, Respiratory failure |
OMIM:300868 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Death in childhood |
OMIM:618252 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Growth delay, Respiratory failure... |
ORPHA:731 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Abnormal ... |
ORPHA:2556 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Severe short stature, Dyspnea, Cryptorchidism, Respiratory failure, Intrauterine growth retardation |
ORPHA:2636 |
Niemann-Pick Disease Type C |
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Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory failure, ... |
ORPHA:646 |
Costello Syndrome |
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Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia |
OMIM:218040 |
Abetalipoproteinemia |
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Respiratory failure |
ORPHA:14 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Proportionate short stature, Respiratory failure, Intrauterine growth r... |
ORPHA:500150 |
Steinert Myotonic Dystrophy |
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Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure, Respiratory tract infection, Pulmonary lymphangiomyoma... |
ORPHA:805 |
Fraser Syndrome 2 |
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Respiratory failure |
OMIM:617666 |
Otopalatodigital Syndrome, Type Ii |
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Short stature, Postnatal growth retardation, Cryptorchidism, Respiratory insufficiency, Respirato... |
OMIM:304120 |