Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Recurrent lower res... |
OMIM:620321 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Pulmonary infiltrates, Cough |
ORPHA:64741 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Pallor |
ORPHA:79283 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Hyaline membranes |
OMIM:617065 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Pulmonary hypoplas... |
OMIM:619003 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, Neonatal death |
OMIM:300219 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Respiratory insufficiency, Death in childhood |
OMIM:618224 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Early Myoclonic Encephalopathy |
|
Recurrent respiratory infections, Lethargy |
ORPHA:1935 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... |
ORPHA:1303 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Pruritus, Atelectasis, Skin ulcer, Cough, Sk... |
ORPHA:2314 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Redundant neck skin, Edema |
OMIM:610498 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c... |
ORPHA:91359 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness, Pallor |
OMIM:613561 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Neonatal... |
OMIM:619751 |
Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... |
OMIM:620014 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis, Cough |
ORPHA:163703 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Bronchiolitis |
OMIM:615993 |
Typhoid |
|
Skin rash, Epistaxis, Abnormal pulmonary interstitial morphology, Cough, Lethargy |
ORPHA:99745 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Death in childhood |
OMIM:618683 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive... |
ORPHA:1302 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency, Dehydration |
ORPHA:28 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Skin rash |
ORPHA:26 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Neonatal respiratory distress |
ORPHA:254857 |
Evans Syndrome |
|
Epistaxis, Dyspnea, Pallor, Lethargy, Petechiae |
ORPHA:1959 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation |
OMIM:618232 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature, Decreased ... |
OMIM:300580 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre... |
OMIM:604571 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Apnea, Death in childhood |
OMIM:618225 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:26792 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Respiratory insufficiency, Lethargy, Pleural effusion, Ascit... |
OMIM:617397 |
Glycine Encephalopathy 1 |
|
Lethargy, Death in infancy |
OMIM:605899 |
Gaba-Transaminase Deficiency |
|
Lethargy, Death in childhood |
OMIM:613163 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Purpura, Maculopapular exanthema, Skin rash, Crackles, Facial edema, Perior... |
ORPHA:319213 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Redundant skin, Periorbital edema, Atelectasis, Recurrent pneumonia, Cutis laxa... |
OMIM:613177 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Lethargy |
ORPHA:71277 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu... |
ORPHA:538 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
OMIM:237310 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Postnatal growth retardation, Pulmonary hypoplas... |
OMIM:616733 |
Dengue Fever |
|
Skin rash, Epistaxis, Pruritus, Cardiorespiratory arrest, Lethargy, Ascites, Petechiae |
ORPHA:99828 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Emphysema, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstiti... |
OMIM:612387 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Cutis laxa |
OMIM:614100 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... |
OMIM:615067 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon... |
ORPHA:133 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Apnea, Death in childhood |
OMIM:611523 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Apnea, Respiratory insufficiency |
OMIM:618228 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios |
ORPHA:3032 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin |
OMIM:617571 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy, Dry skin |
OMIM:274400 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Death in childhood |
OMIM:615597 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Lethargy, Death in infancy, Death in childhood |
OMIM:619064 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy |
OMIM:610006 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Abnormal respiratory system physiology |
ORPHA:324581 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Pallor |
ORPHA:276608 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Respiratory failure, Death in infancy |
OMIM:619386 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia, Polyhydramnios |
OMIM:617194 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios |
ORPHA:3033 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Cyclic Vomiting Syndrome |
|
Lethargy, Pallor |
OMIM:500007 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Apnea, Respiratory insufficiency |
OMIM:618226 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Failure to thrive |
OMIM:616974 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Discoid lupus rash, Atelectasis, Recurrent pneumonia, Air br... |
OMIM:306400 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Tachypnea, Lethargy, Perioral eczema |
ORPHA:79242 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Cholera |
|
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Lethargy, Hyp... |
ORPHA:173 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Polyhydramnios, Respiratory failure, Stillbirth, Death in childhood, Neonatal d... |
OMIM:614922 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Pallor |
ORPHA:49827 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Death in childhood |
OMIM:246900 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Lethargy, Dehydration |
ORPHA:79312 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Polyhydramnios |
OMIM:616867 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:91130 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac... |
ORPHA:2257 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Lethargy, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... |
ORPHA:723 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure... |
OMIM:605711 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Lung aden... |
ORPHA:166113 |
Central Diabetes Insipidus |
|
Lethargy, Dehydration, Depression |
ORPHA:178029 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Edema, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal dea... |
OMIM:269860 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Pallor |
ORPHA:276556 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia, Edema |
OMIM:253310 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu... |
ORPHA:142 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma |
OMIM:136630 |
Pachyonychia Congenita |
|
Respiratory distress, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar ker... |
ORPHA:2309 |
Meningococcal Meningitis |
|
Neonatal respiratory distress, Skin rash, Lethargy, Petechiae, Purpura |
ORPHA:33475 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Oligohydramnios, Respiratory insuffic... |
ORPHA:536467 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Pallor |
ORPHA:276575 |
Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation, Failure to thrive |
ORPHA:370924 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Pallor |
ORPHA:276580 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency, Dehydration |
ORPHA:27 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Lethargy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Pallor |
ORPHA:324575 |
Propionic Acidemia |
|
Apnea, Eczema, Tachypnea, Dehydration, Lethargy |
OMIM:606054 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary arterial hype... |
ORPHA:2414 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Scrub Typhus |
|
Skin rash, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy |
ORPHA:83317 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Perica... |
ORPHA:26793 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Lethargy |
ORPHA:289916 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Polyhydramnios, Hydrops fetalis, Respiratory insufficiency, Pul... |
OMIM:255320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Lethargy, Tachypnea |
ORPHA:3282 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation, Failure to thrive |
ORPHA:261304 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:212140 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Stillbirth, Pulmonary hypoplasia, Neonatal death, Oligohydramnios |
OMIM:236500 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Lethargy, Apnea, Hyperventilation |
OMIM:229700 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Respiratory insufficiency, Oligohydramnios |
OMIM:267430 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Polyhydramnios, Edema, Recurrent upper respiratory tract infections, Recurr... |
OMIM:607143 |
Ogden Syndrome |
|
Lethargy, Pulmonary artery stenosis, Cutis laxa |
ORPHA:276432 |
Zygomycosis |
|
Unusual skin infection, Sinusitis, Epistaxis, Periorbital edema, Pustule, Atelectasis, Pneumothor... |
ORPHA:73263 |
Thanatophoric Dysplasia |
|
Redundant skin, Polyhydramnios, Increased nuchal translucency, Respiratory insufficiency, Pulmona... |
ORPHA:2655 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Lethargy, Tachypnea |
ORPHA:765 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Respiratory arrest |
OMIM:600649 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Pallor |
OMIM:611590 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Apathy, P... |
OMIM:608013 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
Dihydropyrimidinase Deficiency |
|
Lethargy |
OMIM:222748 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Tachypnea, Respiratory arrest, Death in infancy |
OMIM:201475 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Achondrogenesis Type 2 |
|
Cardiorespiratory arrest, Pulmonary hypoplasia, Edema |
ORPHA:93296 |
Relapsing Polychondritis |
|
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura |
ORPHA:728 |
Citrullinemia Type I |
|
Lethargy, Tachypnea |
ORPHA:247525 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Lethargy |
ORPHA:95717 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... |
ORPHA:3392 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:927 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated pulmonary a... |
ORPHA:1329 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Abnormal pulmonary interst... |
OMIM:617180 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
Biotinidase Deficiency |
|
Recurrent skin infections, Skin rash, Apnea, Seborrheic dermatitis, Tachypnea, Lethargy |
OMIM:253260 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... |
ORPHA:79128 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Tachypnea, Pulmonary arterial hypertension |
OMIM:614857 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Dehydration |
OMIM:143880 |
Isovaleric Acidemia |
|
Lethargy, Dehydration |
OMIM:243500 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Chand Syndrome |
|
Atelectasis, Dry skin |
ORPHA:1401 |
Hereditary Central Diabetes Insipidus |
|
Lethargy |
ORPHA:30925 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:251000 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hyperkeratosis, Failure to thrive in infancy, Pulmonary fibrosis |
OMIM:612852 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Lethargy |
ORPHA:254913 |
Classic Galactosemia |
|
Lethargy, Ascites, Depression |
ORPHA:79239 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Edema, Tachypnea, Dehydration, Apathy, Pallor, Lethargy |
ORPHA:20 |
Nephronophthisis 2 |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency, Oligohydramnios |
OMIM:602088 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Exertional dyspnea |
ORPHA:42 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Tachypnea, Skin rash, Hyperventilation |
OMIM:253270 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Respiratory failure, Hydrops fetalis, Respiratory insufficiency |
OMIM:609015 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Necrotizing Enterocolitis |
|
Lethargy, Ascites, Apnea, Edema |
ORPHA:391673 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Dry skin, Perianal erythema, Perioral erythema |
OMIM:201100 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Skin ulcer, L... |
ORPHA:68 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Skin rash, Erythema, Death in childhood, Lethargy, Cerebral edema |
OMIM:618321 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Short stature |
ORPHA:166272 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Histiocytoid Cardiomyopathy |
|
Tachypnea, Pallor, Cough, Lethargy, Pulmonary edema |
ORPHA:137675 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy, Recurrent respiratory infections, Short stature, Mesomeli... |
OMIM:184260 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios |
OMIM:202650 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Apnea |
OMIM:210200 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy |
OMIM:250620 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Atelectasis, Skin ulcer, Dehydration, Depress... |
ORPHA:534 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
22Q11.2 Deletion Syndrome |
|
Bipolar affective disorder, Acne, Polyhydramnios, Seborrheic dermatitis, Atelectasis, Asthma, Chr... |
ORPHA:567 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Dry skin, Depression |
ORPHA:99832 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Pallor |
ORPHA:263455 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Ebola Hemorrhagic Fever |
|
Dyspnea, Lethargy, Maculopapular exanthema, Cough |
ORPHA:319218 |
Biotinidase Deficiency |
|
Respiratory distress, Skin rash, Apnea, Lethargy, Eczematoid dermatitis, Hyperventilation |
ORPHA:79241 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy |
ORPHA:2394 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:251110 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... |
OMIM:612281 |
Renal Hypoplasia, Bilateral |
|
Lethargy, Neonatal respiratory distress, Edema, Oligohydramnios |
ORPHA:97362 |
Familial Thyroid Dyshormonogenesis |
|
Facial edema, Lethargy |
ORPHA:95716 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy |
OMIM:238970 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia, Polyhydramnios |
OMIM:187600 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Cerebral edema |
OMIM:237300 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive |
OMIM:608799 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:224410 |
Cirrhosis, Familial |
|
Lethargy, Ascites, Pulmonary arterial hypertension |
OMIM:215600 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Cerebral edema |
OMIM:201450 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia, Polyhydramnios, Edema of the dorsum of hands |
ORPHA:171430 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop... |
ORPHA:96179 |
Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:994 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Growth delay, Pulmonary arterial hypertension, Failure to thrive, Respiratory distress |
OMIM:619272 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Maple Syrup Urine Disease |
|
Lethargy, Cerebral edema |
OMIM:248600 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia, Polyhydramnios |
ORPHA:1486 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Failure to thrive |
ORPHA:2707 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Polyhydramnios, Lethargy, Ascites |
OMIM:617156 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Cardiorespiratory arrest |
OMIM:212138 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios |
OMIM:263210 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy, Dehydration |
OMIM:251100 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... |
OMIM:616482 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia, Oligohydramnios |
OMIM:615415 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... |
ORPHA:209905 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:241800 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis,... |
ORPHA:537 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Pulmonary h... |
ORPHA:3309 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive |
ORPHA:544503 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Medulloblastoma |
|
Neoplasm of the lung, Lethargy |
ORPHA:616 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Xerostomia, Lethargy |
ORPHA:398079 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Lethargy, Dry skin, Depression |
ORPHA:90674 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Lethargy |
OMIM:557000 |
Diaphanospondylodysostosis |
|
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Pulm... |
OMIM:608022 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Serkal Syndrome |
|
Pulmonary hypoplasia, Oligohydramnios |
ORPHA:139466 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Failure to thrive |
OMIM:615595 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Edema, Respiratory insufficiency, Depression, Bradykinesia, Lethargy,... |
ORPHA:254892 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Insulinoma |
|
Lethargy |
ORPHA:97279 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Failure to thrive |
ORPHA:329178 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Oligohydramnios |
OMIM:616866 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Pleural effusion, Ascites |
OMIM:616897 |
Digeorge Syndrome |
|
Bipolar affective disorder, Acne, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneumonia... |
OMIM:188400 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617102 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint swelling, Apathy, Lethargy |
ORPHA:465508 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp... |
ORPHA:1199 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Pulmonary hypoplasia, Edema |
OMIM:312150 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy |
ORPHA:2089 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy |
ORPHA:2169 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Glycine Encephalopathy |
|
Lethargy, Respiratory acidosis, Breathing dysregulation |
ORPHA:407 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Oligohydramnios |
OMIM:191830 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Pulmonary hypoplasia, Polyhydramnios |
OMIM:314390 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age |
ORPHA:226313 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Xerostomia, Lethargy |
ORPHA:398069 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Short stature, Small for gestational age, St... |
OMIM:260400 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Orthopnea, Nonprod... |
ORPHA:980 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Lethargy, Cerebral edema |
OMIM:252010 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Encephalitis Lethargica |
|
Lethargy, Hyperventilation |
ORPHA:83600 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Miscarriage, Pulmonary hypoplasia, Hydrops fetalis, Respiratory insufficiency |
ORPHA:1865 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
Trichinellosis |
|
Skin rash, Edema, Facial edema, Periorbital edema, Apathy, Lethargy |
ORPHA:863 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Citrullinemia Type Ii |
|
Lethargy, Mania, Cerebral edema |
ORPHA:247585 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Pulmonary hypoplasia, Edema |
OMIM:253290 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Apnea |
ORPHA:395 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Radio-Renal Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... |
ORPHA:3015 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency |
ORPHA:367 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Hydrops fetalis, Dehydration, Pulmonary arterial hypert... |
ORPHA:79282 |
Semilobar Holoprosencephaly |
|
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... |
ORPHA:93924 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Polyhydramnios, Upper airway obstruction, Pulmonary hypop... |
OMIM:100800 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Intrauterine growth retardation |
OMIM:616271 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Pedal edema, Aortopulmon... |
ORPHA:97214 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Tachypnea |
OMIM:615751 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Edema |
ORPHA:226316 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy, Skin rash |
OMIM:277380 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Lethargy, Dry skin |
OMIM:218700 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Dry skin |
ORPHA:199299 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Short stature, Large for gestational age, Dyspnea, Pulmonary arterial hyper... |
ORPHA:363705 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy, Skin rash |
ORPHA:79284 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insufficiency, Bilateral... |
OMIM:601186 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:50810 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia |
ORPHA:206436 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... |
OMIM:617303 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Seborrheic dermatitis |
OMIM:210210 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Polyhydramnios |
OMIM:608149 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:618316 |
Kniest Dysplasia |
|
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature |
OMIM:156550 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Death in childhood, Chronic... |
OMIM:613848 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:86822 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Short stature |
OMIM:606164 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Respiratory distress |
OMIM:612863 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Lethargy, Palpebral edema, Death in infancy, Death in adolescence |
OMIM:614866 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Isolated Complex I Deficiency |
|
Lethargy, Respiratory insufficiency |
ORPHA:2609 |
Exercise-Induced Malignant Hyperthermia |
|
Crackles, Tachypnea, Hypocapnia, Lethargy, Dry skin |
ORPHA:466650 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... |
ORPHA:31204 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Meckel Syndrome 14 |
|
Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Olig... |
OMIM:619879 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Small for gestational age, Birth length less than 3rd per... |
OMIM:224690 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia, Oligohydramnios |
OMIM:251230 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Erythema, Hyperkeratosis, Stillbirth, Pulmonary hypoplasia, Orthokeratosis |
OMIM:308050 |
Alg3-Cdg |
|
Pulmonary hypoplasia |
ORPHA:79321 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia, Dehydration, Oligohydramnios |
OMIM:263200 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Palmoplantar keratoderma |
ORPHA:1555 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon... |
OMIM:601559 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Edema |
ORPHA:90673 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Respiratory insufficiency, Pulmonary hypoplasia, Polyhydramnios |
OMIM:618975 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... |
ORPHA:98914 |
Meacham Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... |
OMIM:608978 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema |
OMIM:617300 |
Rodrigues Blindness |
|
Nasal flaring, Short stature |
OMIM:268320 |
Posterior Urethral Valve |
|
Lethargy, Oligohydramnios |
ORPHA:93110 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:71212 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef... |
OMIM:620369 |
Lysinuric Protein Intolerance |
|
Lethargy, Intraalveolar phospholipid accumulation, Respiratory insufficiency |
ORPHA:470 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema |
ORPHA:79330 |
Citrullinemia, Classic |
|
Lethargy, Cerebral edema |
OMIM:215700 |
Sepsis In Premature Infants |
|
Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi... |
ORPHA:90051 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth... |
ORPHA:90068 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Parakeratosis, Postnatal growth retardation, Pulmonary hypoplasia, Intraute... |
ORPHA:83617 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia |
ORPHA:250999 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Q Fever |
|
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Cough, ... |
ORPHA:781 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Severe failure to thrive, Severe short stature, Decreased body weight |
ORPHA:1051 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... |
OMIM:619351 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion |
ORPHA:1546 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy, Tachypnea |
ORPHA:415 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Pulmonary hypoplasia, Hydrops fetalis |
OMIM:614091 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... |
ORPHA:2554 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea |
ORPHA:36234 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Cerebral edema |
OMIM:311250 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Short stature |
OMIM:610536 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Redundant neck skin, Pulmonary hypoplasia, Death in childhood |
OMIM:214100 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Pulmonary infiltrates, Pulmonary fibro... |
ORPHA:3260 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... |
ORPHA:99050 |
Transcobalamin Ii Deficiency |
|
Lethargy |
OMIM:275350 |
Marburg Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Nonproductive cough, Dehydration, Lethargy, Petechiae |
ORPHA:99826 |
Genitopatellar Syndrome |
|
Apnea, Pulmonary hypoplasia |
ORPHA:85201 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Intrauterine grow... |
ORPHA:177907 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, Upper airwa... |
ORPHA:141127 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:958 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Apnea, Growth delay, Failure to thrive |
ORPHA:17 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, ... |
ORPHA:37042 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati... |
ORPHA:79139 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Short stature |
OMIM:300968 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia, Hydrops fetalis, Oligohydramnios |
OMIM:617022 |
Argininosuccinic Aciduria |
|
Lethargy, Cerebral edema |
OMIM:207900 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Familial Hypoaldosteronism |
|
Lethargy |
ORPHA:427 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature |
OMIM:183900 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis |
OMIM:615636 |
Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections, Failure to thrive |
ORPHA:79329 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... |
ORPHA:3342 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia, Polyhydramnios |
ORPHA:1190 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Polyhydramnios |
OMIM:615503 |
Diamond-Blackfan Anemia |
|
Lethargy, Pallor, Nonimmune hydrops fetalis |
ORPHA:124 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy |
OMIM:277400 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Neonatal respiratory distress, Polyhydramnios, Aortopulmonary window, Pulmonary artery hypoplasia... |
OMIM:620025 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Diamond-Blackfan Anemia 10 |
|
Growth delay, Short stature, Respiratory distress |
OMIM:613309 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Oligohydramnios |
ORPHA:1848 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Failure to thrive, Apnea |
ORPHA:2131 |
Marden-Walker Syndrome |
|
Pulmonary hypoplasia |
OMIM:248700 |
Acrocephalopolydactylous Dysplasia |
|
Ascites, Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Death in infancy |
OMIM:208500 |
Neu-Laxova Syndrome |
|
Pulmonary hypoplasia, Polyhydramnios, Lack of skin elasticity |
ORPHA:2671 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Failure to thrive, Apnea, Recurrent upper re... |
OMIM:114290 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:616300 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Stridor, Pulmonary arterial hypertension,... |
ORPHA:505248 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Adnp Syndrome |
|
Respiratory distress, Short stature, Recurrent upper respiratory tract infections, Truncal obesit... |
ORPHA:404448 |
Renal Agenesis |
|
Pulmonary hypoplasia, Oligohydramnios |
ORPHA:411709 |
Restrictive Dermopathy 1 |
|
Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scaling skin, Pulmonary hypoplasia, Neonata... |
OMIM:275210 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia |
OMIM:612530 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Growth delay, Failure to thrive, Short stature, Respiratory distress |
OMIM:256810 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failur... |
ORPHA:79404 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia, Dehydration |
ORPHA:2260 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Increased nuchal translucency, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:1692 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Fontaine Progeroid Syndrome |
|
Dermal translucency, Death in infancy, Redundant skin, Pneumothorax, Respiratory insufficiency, P... |
OMIM:612289 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobation,... |
OMIM:215140 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... |
ORPHA:228123 |
Ogden Syndrome |
|
Redundant neck skin, Apnea, Eczema, Redundant skin, Lymphedema, Facial wrinkling, Pulmonary arter... |
OMIM:300855 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
Czeizel-Losonci Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2437 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia, Oligohydramnios |
OMIM:208540 |
Atelosteogenesis Type Ii |
|
Tracheobronchomalacia, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:56304 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia |
OMIM:612284 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Severe short stature, Rhizomelia, Growth delay, Failure to thrive |
OMIM:166250 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
ORPHA:2990 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation |
ORPHA:255210 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea, Pulmonary edema |
OMIM:261740 |
Lethal Congenital Contracture Syndrome 9 |
|
Cardiorespiratory arrest, Pulmonary hypoplasia, Polyhydramnios |
OMIM:616503 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Lethargy |
ORPHA:226307 |
Ethylene Glycol Poisoning |
|
Pulmonary edema, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
Distal Triplication 15Q |
|
Pulmonary hypoplasia |
ORPHA:314588 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Decreased body weight |
OMIM:615273 |
Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... |
ORPHA:3384 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Lymphedema, Respiratory insufficiency, Cutis laxa, Restrictive ventilatory defect, Pulmonary hypo... |
ORPHA:536471 |
Raine Syndrome |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia |
OMIM:259775 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress |
OMIM:123790 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Growth del... |
OMIM:616268 |
Alg9-Cdg |
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Pericardial effusion, Asthma, Abnormal lung lobation, Hydrops fetalis, Pulmonary hypoplasia, Olig... |
ORPHA:79328 |
Kufor-Rakeb Syndrome |
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Bradykinesia, Lethargy, Apathy |
ORPHA:306674 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
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Pulmonary hypoplasia, Polyhydramnios |
OMIM:614080 |
Fryns Syndrome |
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Pulmonary hypoplasia, Polyhydramnios |
ORPHA:2059 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Pulmonary hypoplasia |
OMIM:619148 |
Listeriosis |
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Respiratory distress, Respiratory failure, Miscarriage, Pneumonia |
ORPHA:533 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Rubinstein-Taybi Syndrome 1 |
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Respiratory distress, Short stature, Small for gestational age, Postnatal growth retardation, Res... |
OMIM:180849 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Small for gestational age, Pulmonary artery stenosis, Intrauterine growth r... |
ORPHA:2255 |
Multiple Pterygium Syndrome, Escobar Variant |
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Neonatal respiratory distress, Pulmonary hypoplasia, Hydrops fetalis |
OMIM:265000 |
Hyperparathyroidism, Transient Neonatal |
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Respiratory distress |
OMIM:618188 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress |
OMIM:274150 |
Colchicine Poisoning |
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Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Restrictive Dermopathy |
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Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Pulmonary hypoplasia, Generalized hyperke... |
ORPHA:1662 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Failure t... |
ORPHA:2556 |
Mckusick-Kaufman Syndrome |
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Pulmonary hypoplasia, Edema, Pedal edema |
OMIM:236700 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Acantholysis... |
ORPHA:95455 |
Tarp Syndrome |
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Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
Multiple Endocrine Neoplasia Type 1 |
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Lethargy, Dehydration, Depression |
ORPHA:652 |
Hydranencephaly |
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Lethargy |
ORPHA:2177 |
Stüve-Wiedemann Syndrome |
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Respiratory distress, Short stature, Apnea, Asthma, Intrauterine growth retardation |
ORPHA:3206 |
Congenital Alveolar Capillary Dysplasia |
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Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Blomstrand Lethal Chondrodysplasia |
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Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
Vacterl With Hydrocephalus |
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Pulmonary hypoplasia, Polyhydramnios |
ORPHA:3412 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Pulmonary hypoplasia, Oligohydramnios |
OMIM:271520 |
Autosomal Recessive Polycystic Kidney Disease |
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Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy... |
ORPHA:731 |
Glycerol Kinase Deficiency |
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Lethargy |
OMIM:307030 |
Gitelman Syndrome |
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Primary hyperaldosteronism, Failure to thrive, Respiratory distress, Delayed puberty |
ORPHA:358 |
Pagod Syndrome |
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Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... |
ORPHA:991 |
Cleidocranial Dysplasia 1 |
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Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress |
OMIM:119600 |
8Q24.3 Microdeletion Syndrome |
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Respiratory distress, Infancy onset short-trunk short stature, Short stature, Small for gestation... |
ORPHA:508488 |
Pentalogy Of Cantrell |
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Pulmonary hypoplasia |
ORPHA:1335 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Bilateral trilobed lung, Failure to thrive, Total anomalous pulmonary venou... |
OMIM:306955 |
Fryns Syndrome |
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Stillbirth, Pulmonary hypoplasia, Chylothorax, Polyhydramnios |
OMIM:229850 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Redundant neck skin, Miscarriage, Polyhydramnios, Pulmonary artery stenosis, Cutis laxa, Restrict... |
ORPHA:96334 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Pulmonary hypoplasia, Oligohydramnios |
ORPHA:1112 |
Fetal Akinesia Deformation Sequence 1 |
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Nonimmune hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Stillbirth, Pulmonary h... |
OMIM:208150 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
Thoracoabdominal Syndrome |
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Pulmonary hypoplasia |
OMIM:313850 |
Schinzel-Giedion Syndrome |
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Respiratory distress, Recurrent pneumonia, Failure to thrive in infancy, Pulmonary hypoplasia |
ORPHA:798 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... |
ORPHA:3404 |
Paroxysmal Nocturnal Hemoglobinuria |
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Dyspnea, Lethargy, Pulmonary embolism |
ORPHA:447 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring, Obesity |
ORPHA:466943 |
Mosaic Trisomy 16 |
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Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:1708 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pulmonary hypoplasia, Hydrops fetalis |
OMIM:263520 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure, Respiratory tract infection, Pulmonary lymphangiomyoma... |
ORPHA:805 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Rhinitis |
OMIM:305100 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea |
ORPHA:2330 |
Acrorenal-Mandibular Syndrome |
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Pulmonary hypoplasia, Oligohydramnios |
OMIM:200980 |
Otopalatodigital Syndrome Type 2 |
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Pulmonary hypoplasia |
ORPHA:90652 |
Fructose Intolerance, Hereditary |
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Lethargy |
OMIM:229600 |
Pineoblastoma |
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Lethargy |
ORPHA:251909 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Neu-Laxova Syndrome 1 |
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Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Neonatal death, Generalized edema |
OMIM:256520 |
Smith-Lemli-Opitz Syndrome |
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Increased nuchal translucency, Abnormal lung lobation, Pulmonary hypoplasia, Polyhydramnios |
ORPHA:818 |
Orofaciodigital Syndrome Type 4 |
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Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:2753 |
Meier-Gorlin Syndrome 7 |
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Pulmonary hypoplasia |
OMIM:617063 |
Cardiac-Urogenital Syndrome |
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Tracheomalacia, Pericardial effusion, Partial anomalous pulmonary venous return, Pulmonary hypopl... |
OMIM:618280 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... |
ORPHA:99646 |
Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Cutis laxa |
ORPHA:666 |
Smith-Lemli-Opitz Syndrome |
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Abnormal lung lobation, Pulmonary hypoplasia, Eczema, Death in infancy |
OMIM:270400 |
Dpagt1-Cdg |
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Anasarca, Pulmonary hypoplasia |
ORPHA:86309 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Pulmonary hemorrhage, Cough |
ORPHA:509 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Short stature |
OMIM:617088 |
Tetraamelia Syndrome 1 |
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Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia |
OMIM:273395 |
Penile Agenesis |
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Bilateral lung agenesis, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:49 |
Meckel Syndrome, Type 1 |
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Pulmonary hypoplasia, Oligohydramnios |
OMIM:249000 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress, Recurrent upper and lower respiratory tract infections, Short stature, Dela... |
ORPHA:480880 |
Doors Syndrome |
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Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
Distal Deletion 15Q |
|
Pulmonary hypoplasia |
ORPHA:1596 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Pulmonary hypoplasia, Hydrops fetalis, Respiratory insufficiency |
ORPHA:93271 |
Fraser Syndrome |
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Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2052 |
Plague |
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Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
Tetrasomy 9P |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia |
ORPHA:3310 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Pulmonary arterial hypertension, Failure to thrive in infancy |
ORPHA:51608 |
Fraser Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:219000 |
Alström Syndrome |
|
Respiratory distress, Hypertriglyceridemia, Short stature, Hyperlipidemia, Chronic pulmonary obst... |
ORPHA:64 |
Genitopatellar Syndrome |
|
Pulmonary hypoplasia, Polyhydramnios |
OMIM:606170 |
Pallister-Killian Syndrome |
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Edema of the dorsum of feet, Polyhydramnios, Apneic episodes in infancy, Stillbirth, Pulmonary hy... |
OMIM:601803 |
Pmm2-Cdg |
|
Respiratory distress, Failure to thrive, Aspiration pneumonia |
ORPHA:79318 |
Craniofacial Microsomia 1 |
|
Pulmonary hypoplasia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Pulmonary hypoplasia |
OMIM:309800 |