| Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema, Swollen lip |
OMIM:619363 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
| Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... |
OMIM:267450 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... |
ORPHA:70589 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth |
OMIM:618732 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Edema of the dorsum of hands, Angioedema, Swollen lip |
OMIM:619361 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp... |
ORPHA:70587 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... |
OMIM:610921 |
| Immunodeficiency 95 |
|
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... |
OMIM:619773 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... |
OMIM:265120 |
| Meconium Aspiration Syndrome |
|
Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Respiratory distress, Aspiration... |
ORPHA:70588 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... |
ORPHA:922 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... |
OMIM:263000 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuf... |
ORPHA:60032 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
| Angioedema, Hereditary, 8 |
|
Facial edema, Angioedema, Laryngeal edema, Edema of the dorsum of hands, Swollen lip |
OMIM:619367 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Generalized abnormality of skin, Pleural effusion, Parenchymal consolidation, Elevat... |
ORPHA:2902 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Neonatal respiratory distress, Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRC... |
OMIM:610978 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... |
OMIM:610913 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia, Death in infancy |
OMIM:254120 |
| Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Pulmonary Blastoma |
|
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates |
ORPHA:64741 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Exertional dy... |
ORPHA:3348 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Nodular pattern on pulmonary HRCT, Ground-glass opacification |
ORPHA:60026 |
| C1Q Deficiency 2 |
|
Atelectasis, Facial erythema, Vasculitis in the skin, Elevated circulating C-reactive protein con... |
OMIM:620321 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Pneumocystosis |
|
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef... |
ORPHA:723 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, E... |
ORPHA:178320 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration, Exertional dyspne... |
ORPHA:254361 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormal glucose homeostasis, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
| Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... |
ORPHA:2032 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... |
ORPHA:79127 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Parenchymal consolidation, Pulmonar... |
ORPHA:36238 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Elevated circulating carcinoembryonic antigen concent... |
ORPHA:264675 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... |
OMIM:610910 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Lipoid pneumonia, Elevated circulating creatine kinase concentration, ... |
OMIM:620326 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pleura morphology, Abnormal pattern of respiration, Pulmonary... |
ORPHA:724 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Acute infectious pneumonia, Dyspnea, Diabetes mellitus, Hypoxemia, Respirat... |
ORPHA:140896 |
| High Altitude Pulmonary Edema |
|
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia, Pulmonary opacity |
ORPHA:330012 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... |
ORPHA:1302 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Neonatal death |
OMIM:300219 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atelectasis |
ORPHA:896 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... |
ORPHA:50251 |
| Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Chronic bronchitis, Panacinar emphysema, D... |
OMIM:613490 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Ground-glass opacificati... |
OMIM:614370 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... |
ORPHA:60033 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:311895 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Ring Chromosome 22 Syndrome |
|
Lymphedema, Pleural effusion, Protruding tongue, Thick vermilion border, Edema |
ORPHA:1446 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic... |
OMIM:608647 |
| Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Respiratory distress, Ground-glass opacification, Pleural effusion, E... |
ORPHA:454836 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, ... |
ORPHA:70578 |
| Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Dyspnea, Abnormal pu... |
OMIM:612387 |
| Congenital Pulmonary Airway Malformation |
|
Abnormal pleura morphology, Respiratory insufficiency |
ORPHA:2444 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Abnormal circulating pro... |
ORPHA:747 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... |
ORPHA:199241 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Death in infancy, Elevated circulating creatine kinase concentr... |
OMIM:613869 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Lymphedema |
OMIM:613611 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respirator... |
ORPHA:244 |
| Bronchiolitis Obliterans |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Bronchiolitis oblite... |
ORPHA:1303 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Bronchiectasis, Respiratory insufficiency |
ORPHA:1164 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency d... |
ORPHA:254875 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... |
ORPHA:99931 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
| Laryngotracheoesophageal Cleft |
|
Dyspnea, Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress |
ORPHA:2004 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness, Elev... |
OMIM:300717 |
| Primary Pulmonary Hypoplasia |
|
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Apnea, Cyanosis, Tachypnea, ... |
ORPHA:2257 |
| Phosphoserine Aminotransferase Deficiency |
|
Hypoglycinemia, Hyposerinemia, Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration |
ORPHA:77260 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Ground-glass opac... |
ORPHA:60025 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... |
OMIM:620233 |
| Solar Urticaria |
|
Angioedema, Abnormal lip morphology, Abnormal tongue morphology, Periorbital edema, Edema |
ORPHA:97230 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Diffuse reticul... |
OMIM:607616 |
| Glycine Encephalopathy 2 |
|
Respiratory failure, Nonketotic hyperglycinemia |
OMIM:620398 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
| Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... |
OMIM:619611 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis, Pulmonary opacity |
ORPHA:411703 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Facial erythema |
OMIM:618307 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... |
OMIM:618042 |
| Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Respira... |
OMIM:178550 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... |
OMIM:620296 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Pleural effusion, Cyanosis |
ORPHA:2414 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Elevated circulating... |
OMIM:616414 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... |
OMIM:618106 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... |
OMIM:244400 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:616867 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia, Pulmonary hypoplasia |
ORPHA:2140 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Developmental And Epileptic Encephalopathy 71 |
|
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis |
OMIM:604571 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
| Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
| Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... |
OMIM:178500 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Thin vermilion border, Cleft palate |
OMIM:612938 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,... |
ORPHA:133 |
| Slc35A1-Cdg |
|
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
| Congenital Myopathy 14 |
|
Abnormal circulating creatine kinase concentration, Apnea, Death in infancy, Respiratory insuffic... |
OMIM:618414 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:616081 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency |
ORPHA:238329 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Protruding tongue, Widely spaced teeth |
ORPHA:98795 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... |
ORPHA:91359 |
| Burning Mouth Syndrome |
|
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... |
ORPHA:353253 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Dyspnea, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary capillary hemangio... |
OMIM:234810 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... |
OMIM:200990 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Elevated circulating creati... |
OMIM:614399 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia |
OMIM:616733 |
| Congenital Sialidosis Type 2 |
|
Ascites, Gingival overgrowth, Protruding tongue, Edema |
ORPHA:93400 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... |
ORPHA:217563 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Respiratory insufficiency, Death in childhood, Tachypnea, Unconjugated hyperbilirubi... |
OMIM:618278 |
| Hypophosphatasia |
|
Emphysema, Hypercalcemia, Respiratory insufficiency |
ORPHA:436 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Glossoptosis, Cleft palate |
ORPHA:3104 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis, Pleuritis, Respiratory failu... |
ORPHA:449280 |
| Developmental And Epileptic Encephalopathy 80 |
|
Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High palate, Wide ... |
OMIM:618580 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin |
ORPHA:2314 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog... |
OMIM:610253 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted... |
OMIM:212066 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Neonatal death, Hyperprolinemia, Hyperalaninemia, Pulmonary hypopl... |
OMIM:619003 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Respiratory... |
ORPHA:333 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
| Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Protruding tongue, Widely spaced teeth |
ORPHA:411511 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Protruding tongue |
OMIM:242860 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Upper eyelid edema, Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, ... |
OMIM:617804 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Respiratory insufficiency, Hypoventilation, Intercostal muscle weakness, Recurrent l... |
ORPHA:258 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:266 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Smooth philtrum, Protruding tongue, Everted lower lip vermilion |
ORPHA:324410 |
| Auriculocondylar Syndrome 4 |
|
Glossoptosis, Narrow mouth, Cleft palate |
OMIM:620457 |
| Marshall-Smith Syndrome |
|
Gingival overgrowth, Open mouth, Protruding tongue |
ORPHA:561 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion |
OMIM:618773 |
| Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gingival overgrowth, Wide mouth, Protruding tongue |
OMIM:618797 |
| Angelman Syndrome |
|
Macroglossia, Wide mouth, Protruding tongue, Widely spaced teeth |
OMIM:105830 |
| Nephronophthisis 2 |
|
Respiratory insufficiency, Elevated circulating creatinine concentration, Hyperkalemia, Respirato... |
OMIM:602088 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... |
ORPHA:95430 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Hypokalemia, Dyspnea, Respiratory failure |
ORPHA:330021 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural effusion, Pulmonary ed... |
ORPHA:542323 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Icf Syndrome |
|
Macroglossia, Protruding tongue |
ORPHA:2268 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ... |
OMIM:606763 |
| Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Hypophosphatemia, Pulmonary... |
OMIM:618913 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Hypoglycemia, Respiratory insufficiency, Hyperglycinemia, Death in... |
OMIM:245400 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... |
OMIM:615067 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Ground-glass opacification, Tachypnea, Intraalveolar phospholipid accumulation |
OMIM:300770 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... |
ORPHA:538 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration |
OMIM:620011 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i... |
OMIM:618426 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Gingival overgrowth, Protruding tongue, Long philtrum |
OMIM:619179 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... |
OMIM:607625 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hyperglycinemia, Hyperamylasemia, Death in infancy, Elevated circulating creatine k... |
OMIM:619386 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
| Chitayat Syndrome |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections |
OMIM:617180 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis |
ORPHA:137914 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Elevated circulatin... |
ORPHA:308552 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency |
OMIM:610127 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure, Increased total bilirubin |
ORPHA:890 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Respiratory failure |
OMIM:616794 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Atelectasis, Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Elevat... |
ORPHA:365 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Elevated circulating creatinine concentration, Pulmonary infiltrates,... |
ORPHA:90060 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
| Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Down Syndrome |
|
Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low... |
ORPHA:870 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Macroglossia, Protruding tongue, Everted lower lip vermilion, Downturned corners of mouth |
ORPHA:96147 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Protruding tongue, Widely spaced teeth |
ORPHA:98794 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Bronchitis, Emphysema, Jaundice, Bronchiec... |
ORPHA:60 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Tularemia |
|
Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor... |
ORPHA:3392 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased circulating carnitine concentration, Respiratory distress, Ventilator dependence with i... |
ORPHA:254864 |
| Primary Effusion Lymphoma |
|
Dyspnea, Pleural effusion |
ORPHA:48686 |
| Gm1-Gangliosidosis, Type Ii |
|
Gingival overgrowth, Narrow mouth, Protruding tongue |
OMIM:230600 |
| Ritscher-Schinzel Syndrome 2 |
|
Short philtrum, High palate, Intestinal malrotation, Protruding tongue |
OMIM:300963 |
| Achondrogenesis, Type Ia |
|
Polyhydramnios, Hydrops fetalis, Protruding tongue, Increased nuchal translucency |
OMIM:200600 |
| Lujo Hemorrhagic Fever |
|
Atelectasis, Respiratory distress, Ecchymosis, Elevated circulating C-reactive protein concentrat... |
ORPHA:319213 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Amyotrophic Lateral Sclerosis 28 |
|
Respiratory failure |
OMIM:620452 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Diastema, Thick lower lip vermilion, Protruding tongue, Thick vermilion border, Macroglossia, Wid... |
OMIM:301040 |
| Raine Syndrome |
|
Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Enamel hypoplasia... |
OMIM:259775 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... |
OMIM:613177 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Hyperekplexia 4 |
|
Respiratory failure, Abnormal circulating acylcarnitine concentration |
OMIM:618011 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... |
OMIM:614669 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Neoplasm of the lung |
ORPHA:142 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Tachypnea, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respirato... |
ORPHA:555874 |
| Barth Syndrome |
|
Elevated monolysocardiolipin/cardiolipin ratio, Recurrent bronchitis |
OMIM:302060 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth |
OMIM:619751 |
| Glutamine Deficiency, Congenital |
|
Erythema, Neonatal respiratory distress, Apnea, Hyperammonemia, Neonatal death, Hypoglutaminemia,... |
OMIM:610015 |
| Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... |
ORPHA:51636 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Congenital Myopathy 10B, Mild Variant |
|
Recurrent pneumonia, Mildly elevated creatine kinase, Abnormal circulating creatine kinase concen... |
OMIM:620249 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Type I diabetes mellitus, Pulmonary fibrosis, Premature graying of hair |
OMIM:620365 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D... |
OMIM:211530 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Smooth philtrum, Narrow mouth, Protruding tongue, Thick vermilion border |
OMIM:608779 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Periorbital edema, Macroglossia, Cheilitis, Edema |
ORPHA:2483 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory distress, Hyperglycinemia, Death in infancy, Tachypnea, Re... |
OMIM:614299 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia |
ORPHA:26792 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Respiratory distress,... |
OMIM:231680 |
| Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Gingival overgrowth, Protruding tongue, Deep philtrum, Long upper lip, Palpebral edema, Narrow pa... |
ORPHA:99843 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Bruising susceptibility, Respiratory failure |
ORPHA:3226 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Elevated circulating creatine kinase c... |
ORPHA:168486 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Apneic episodes precipitated by illness, fatigue, stress, Increased serum pyruvate, Hyperalaninem... |
OMIM:312170 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis |
ORPHA:60041 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:370968 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren... |
OMIM:620014 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protruding tongue, Polyhydramnios, Hydrops fetalis |
ORPHA:50945 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Chylothorax, Respiratory distress, Death in childhood, Death in infancy, Respiratory failure |
OMIM:620278 |
| Angelman Syndrome |
|
Wide mouth, Protruding tongue, Widely spaced teeth |
ORPHA:72 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Hypomethioninemia, Hyperhomocystinemia, Jaundice, Respiratory failure |
OMIM:250940 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Macroglossia, High palate, Protruding tongue |
OMIM:214100 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia |
OMIM:269860 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Atelectasis, Respiratory insufficiency, Respiratory distress, Repeated p... |
ORPHA:536467 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Death in infancy, Elevated circulating creat... |
OMIM:615042 |
| Malaria |
|
Respiratory distress, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... |
OMIM:233450 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Apnea, Cyanosis, Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Radio-Renal Syndrome |
|
Chylothorax, Respiratory distress, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Orthopnea, Respiratory failure |
ORPHA:98913 |
| Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel... |
ORPHA:420741 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema |
ORPHA:2038 |
| Joubert Syndrome 1 |
|
Macroglossia, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Nasal polyposis, Respiratory insufficiency, Recurrent sinusitis, Bronchiectasis |
OMIM:618695 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Increased serum pyruvate, Hypoglycemia |
OMIM:614741 |
| Congenital Myasthenic Syndrome |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... |
ORPHA:98914 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, ... |
ORPHA:363400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory insufficiency, Respiratory distress, Abnormal circulating creatine kinase concentrati... |
OMIM:620375 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis |
OMIM:306400 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Increased circulating free fatty acid level, Respiratory distress, Episodic tachypnea,... |
ORPHA:26793 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Premature graying of hair, Dys... |
OMIM:614742 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Tongue atrophy |
OMIM:613435 |
| Developmental And Epileptic Encephalopathy 100 |
|
Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Enamel hypoplasi... |
OMIM:619777 |
| Relapsing Polychondritis |
|
Erythema, Atelectasis, Abnormal pattern of respiration, Dyspnea, Purpura |
ORPHA:728 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Hyperalaninemia, Death in infancy |
OMIM:616974 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Hypoventilation, Recurrent infections due to aspiration, Intercost... |
ORPHA:70 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia |
OMIM:184260 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... |
OMIM:123700 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Generalized edema, Oligohydramnios |
OMIM:249210 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:604801 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:159 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, High palate, Polyhydramnios, Protruding tongue |
OMIM:617062 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... |
OMIM:615838 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia |
ORPHA:3309 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Dyspnea, Abnormal pleura morphology, Pulmonary fibrosis, Increased circulating ferritin concentra... |
ORPHA:210136 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Elevated circulat... |
ORPHA:352447 |
| Catel-Manzke Syndrome |
|
Oral synechia, Glossoptosis, Cleft palate |
ORPHA:1388 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Hyperglycinemia, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Type I diabetes mellitus, Respiratory failure, Elevated circulating creatin... |
OMIM:620166 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Tachypnea, Maternal diabetes, Hypoxemia, Anomalous pulmonary venous return |
ORPHA:860 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
| Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Resp... |
OMIM:620306 |
| Double Outlet Right Ventricle |
|
Cyanosis, Pulmonary artery atresia, Tachypnea, Hypocalcemia |
ORPHA:3426 |
| Congenital Tracheal Stenosis |
|
Neonatal asphyxia, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmona... |
ORPHA:141127 |
| Leigh Syndrome, Nuclear |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hypoglycemia, Apnea, Cyanosis, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
| Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Pleural effusion, Emphysema, Angioedema |
ORPHA:36412 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Neonatal hypoglycemia, Respiratory failure |
ORPHA:445038 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:202650 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Hypoglycemia, Increased total bilirubin, Respiratory insufficiency... |
OMIM:608836 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Respiratory insufficiency, Abnormal pleura morphology, Cutis marmorata, Pulmonar... |
ORPHA:183 |
| Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Elevated circulating C-reactive protein concentration, Recur... |
OMIM:619632 |
| Zygomycosis |
|
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... |
ORPHA:73263 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Neonatal respiratory distress, Respiratory distress, Abnormal pulmonary inte... |
ORPHA:209905 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections, Respiratory failure |
ORPHA:98905 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Hyperglycinemia, Death in infancy, Neonatal death, Elevated circulatin... |
OMIM:605711 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Abnormal pulmonary thoraci... |
ORPHA:980 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Pneumonia, Respiratory failure |
OMIM:617809 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation |
ORPHA:314655 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis |
ORPHA:464453 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Netherton Syndrome |
|
Emphysema, Recurrent respiratory infections, Urticaria |
ORPHA:634 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Type I diabetes mellitus |
ORPHA:2596 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency due to muscle we... |
ORPHA:1143 |
| Nocardiosis |
|
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis, R... |
ORPHA:31204 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Pulmonary artery atresia, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia |
OMIM:620371 |
| Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
ORPHA:75840 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Pulmonary fibrosis, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia |
OMIM:619879 |
| Lymphoid Interstitial Pneumonia |
|
Centrilobular ground-glass opacification on pulmonary HRCT, Subpleural interstitial thickening, G... |
ORPHA:79128 |
| Fontaine Progeroid Syndrome |
|
High, narrow palate, Long philtrum, Anteriorly placed anus, Oligohydramnios, Narrow mouth, Protru... |
OMIM:612289 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:603689 |
| Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Hypocalcemia, Cyanosis, Episodic respiratory distress, Pulmonary... |
ORPHA:31826 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Elevated circulating creatine kinase conc... |
ORPHA:329178 |
| Interstitial Lung And Liver Disease |
|
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Hyperammonemia, Dyspnea, Abno... |
OMIM:615486 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection, Dyspnea, Respiratory failure, Hypercapnia, Respiratory fa... |
ORPHA:79138 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ... |
ORPHA:98915 |
| Degcags Syndrome |
|
Long philtrum, Protruding tongue, Jejunal atresia, Hiatus hernia, Smooth philtrum, Intestinal atr... |
OMIM:619488 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... |
ORPHA:99050 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration |
OMIM:222765 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion... |
OMIM:602483 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Respiratory insufficiency, Hyperuricemia, Hyponatremia, Increased blood urea nitr... |
OMIM:613845 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:26791 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Snakebite Envenomation |
|
Erythema, Angioedema, Ecchymosis, Hyponatremia, Respiratory failure |
ORPHA:449285 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Hyperammonemia, Death in infancy |
OMIM:610678 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Respiratory distress, Episodic tachypnea, Hyperuricemi... |
ORPHA:348 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Pulmonary hypoplasia |
OMIM:608022 |
| Deafness-Craniofacial Syndrome |
|
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... |
ORPHA:3241 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema, Neonatal hypoglycemia |
OMIM:261740 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Atelectasis, Respiratory insufficiency, Hyperaldosteronism, Death in infancy, Hyponatremia, Hypok... |
ORPHA:534 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Emphysema, Respiratory insufficie... |
OMIM:613658 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Respirat... |
OMIM:615512 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia |
OMIM:608013 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:613954 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return |
ORPHA:99104 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat... |
ORPHA:99106 |
| Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Pleural effusion, Respiratory failure |
ORPHA:679 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hyperammonemia, Hypoalbuminemia |
ORPHA:292 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:606612 |
| Alg1-Cdg |
|
Hypoalbuminemia, Respiratory failure |
ORPHA:79327 |
| Plummer-Vinson Syndrome |
|
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy |
ORPHA:54028 |
| Hypoglossia With Situs Inversus |
|
Hypodontia, High palate, Microglossia, Narrow mouth |
OMIM:612776 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Recurrent hypoglycemia, Respiratory distress, Hype... |
OMIM:212140 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Tented upper lip vermilion,... |
OMIM:309580 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Ventilator dependence with inability to wean, Tachypnea, Respiratory failure |
OMIM:604320 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hypoalbuminemia, Respiratory distress, Elevated circulating creatinine concentration, ... |
ORPHA:36234 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... |
ORPHA:530 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Elevated circulating creatinine concentration, Cyanosi... |
OMIM:617478 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes |
ORPHA:45452 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Hyperammonemia, Death in infancy |
ORPHA:1194 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory insufficien... |
OMIM:220110 |
| Common Variable Immunodeficiency |
|
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect... |
ORPHA:1572 |
| Arterial Tortuosity Syndrome |
|
Cardiorespiratory arrest, Respiratory distress, Pulmonary artery stenosis, Telangiectasia of the ... |
ORPHA:3342 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hyperammonemia, Hyperglutamatemia, Tachypnea, Low plasma citrulline, Hyperg... |
OMIM:237310 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Hyperglycinemia, Cyanotic episode |
ORPHA:284417 |
| Down Syndrome |
|
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia |
OMIM:190685 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure |
OMIM:614922 |
| Joubert Syndrome 21 |
|
Dyspnea, Apnea, Respiratory failure, Pulmonary hypoplasia |
OMIM:615636 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... |
ORPHA:185 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pulmonary edema, Dyspnea |
OMIM:115197 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Neonatal death, Palmoplantar cutis laxa, Central apnea, Respiratory failure |
OMIM:616482 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Respiratory insufficiency, Hypoketotic hypoglyc... |
OMIM:609015 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency |
ORPHA:1145 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Peripheral pulmonary artery stenosis, Poor wound healing, Recurrent respiratory infect... |
OMIM:219100 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Elevated circulating creatine kinase concentration |
ORPHA:86812 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Respiratory failure, Ele... |
ORPHA:496641 |
| Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Hyperphosphatemia, Respiratory distress, Elevated circulating creatinine concentration... |
ORPHA:340 |
| Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Recurrent pneumonia, Respiratory distress, Death in childhood, Recurrent broncho... |
OMIM:617303 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Hyperammonemia, Hypoglycemia |
ORPHA:391428 |
| Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Erythema, Neonatal respiratory distress, Respiratory distress, Fragile skin, Abn... |
OMIM:614748 |
| Orofaciodigital Syndrome Xv |
|
Midline notch of upper alveolar ridge, Lobulated tongue |
OMIM:617127 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
| Esophageal Atresia |
|
Bronchitis, Respiratory distress, Cyanosis, Episodic respiratory distress, Maternal diabetes, Rec... |
ORPHA:1199 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia |
ORPHA:927 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum |
ORPHA:1387 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia |
ORPHA:1329 |
| Peripartum Cardiomyopathy |
|
Paroxysmal dyspnea, Exertional dyspnea, Orthopnea, Dyspnea, Diabetes mellitus, Respiratory failure |
ORPHA:563 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Emphysema, Premature skin wrinkling, Abnormality of the pulmonary arte... |
ORPHA:363618 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure |
ORPHA:2254 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypoglycemia, Respiratory dist... |
OMIM:607143 |
| Bloom Syndrome |
|
Pneumonia, Insulin resistance, Bronchitis, Respiratory tract infection, Cutaneous photosensitivit... |
ORPHA:125 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... |
ORPHA:137888 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Hypoventilation, Elevated ... |
OMIM:310200 |
| Orofaciodigital Syndrome Xix |
|
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... |
OMIM:620107 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Angioedema |
ORPHA:100057 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Telangiectasia, Elevated circulating creatine kinase concentration |
OMIM:608799 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules |
OMIM:258850 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Dyspnea, Usual interstitial pneumonia, Pulmonary fibrosis, Premature graying of hair |
OMIM:620367 |
| Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue |
ORPHA:98889 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Cyanosis |
ORPHA:2326 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... |
ORPHA:88618 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea |
ORPHA:99103 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Acrocyanos... |
OMIM:223900 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
| Cronkhite-Canada Syndrome |
|
Lymphedema, Furrowed tongue, Stomach cancer, Intestinal polyposis, Hypogeusia, Hamartomatous poly... |
ORPHA:2930 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections |
ORPHA:1764 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue |
OMIM:613443 |
| Hypoglossia-Hypodactylia |
|
Aglossia, Microglossia, Narrow mouth |
OMIM:103300 |
| Mogs-Cdg |
|
Respiratory distress, Pulmonary edema, Apnea, Hypoventilation |
ORPHA:79330 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Respiratory failure, Death in inf... |
OMIM:614862 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Increased serum pyruvate, Death in infancy, Irregular respiration |
OMIM:604377 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Pneumonia, Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Respiratory distress, Inter... |
ORPHA:37042 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
| Sarcoidosis, Susceptibility To, 1 |
|
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Dyspnea, Abnormal pulmonary inters... |
OMIM:181000 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Hypopnea, Apnea, Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Neonatal hypogly... |
OMIM:617248 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... |
OMIM:616749 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hyperammonemia |
ORPHA:289916 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Pulmonary hypoplasia |
OMIM:100800 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Apnea, Hyperglycinemia, Cyanosis, Hypernatremia, Respiratory failure... |
OMIM:620423 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Hyperammonemia, Death in childhood, Elevated circulating creatine kina... |
OMIM:610505 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Tachypnea, Cyanosis |
ORPHA:3427 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Apnea, Abnormal glucose homeostasis, Cyanosis, Hyponatremia |
ORPHA:391673 |
| 22Q11.2 Deletion Syndrome |
|
Purpura, Hypocalcemia, Atelectasis, Abnormal lung lobation |
ORPHA:567 |
| Cryptococcosis |
|
Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea |
ORPHA:1546 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hyperammonemia |
ORPHA:79312 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Cystic Echinococcosis |
|
Pulmonary cyst, Hyperbilirubinemia, Abnormal subpleural morphology, Multiple pulmonary cysts, Abn... |
ORPHA:400 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Respiratory distress, Pneumothorax, Fragile skin, Dyspnea, Abnormal blood ion concentr... |
ORPHA:79404 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne... |
ORPHA:2020 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hyperalaninemia, Respiratory failure, Death in childhood |
OMIM:619847 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Respiratory insufficiency, Generalized abnormality of skin, Hypoalbuminemia |
ORPHA:367 |
| Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Poems Syndrome |
|
Pleural effusion, Plethora, Respiratory insufficiency due to muscle weakness, Acrocyanosis, Diabe... |
ORPHA:2905 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Open mouth, Thin upper lip vermilion, High palate, Glossoptosis, Pierre-Robin sequence |
OMIM:613604 |
| Listeriosis |
|
Pneumonia, Respiratory distress, Jaundice, Respiratory failure, Miscarriage |
ORPHA:533 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... |
OMIM:258860 |
| Unilateral Polymicrogyria |
|
Apnea, Cyanosis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... |
OMIM:616843 |
| Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Elevated circulating C-reactive protein concentration, Dyspnea, Jaundice, Na... |
ORPHA:90051 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Glucose intolerance, Acrocyanosis, Impaired glucose tolerance |
OMIM:614407 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Respiratory distress, Elevated circulating creatine kinase concentra... |
ORPHA:90068 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Central hypoventilation, ... |
ORPHA:293987 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
| Q Fever |
|
Pneumonia, Respiratory distress, Pleural effusion, Abnormal pulmonary interstitial morphology, Pu... |
ORPHA:781 |
| Tarp Syndrome |
|
Apnea, Cyanosis, Pulmonary hypoplasia |
ORPHA:2886 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hyperalaninemia, Hyperammonemia |
ORPHA:254913 |
| Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... |
ORPHA:3384 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
| Fabry Disease |
|
Abnormal circulating lipid concentration, Respiratory insufficiency, Emphysema, Hyperlipidemia, A... |
ORPHA:324 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema, Abnormal pleura morphology, Recurrent respiratory infections |
ORPHA:537 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:620269 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Neonatal hypoglycemia |
OMIM:616271 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypoglycemia, Respiratory insufficiency, Apnea, Cyanosis, Death in infancy, Hyperalaninemia, Resp... |
OMIM:252010 |
| Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Oligohydramnios, Cleft palate |
ORPHA:2167 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Recurrent pneumonia, Hypoventilation, Increased serum bile acid concent... |
ORPHA:731 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
| Boutonneuse Fever |
|
Petechiae, Respiratory failure |
ORPHA:83313 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip... |
OMIM:174300 |
| Histiocytoid Cardiomyopathy |
|
Pulmonary edema, Tachypnea, Cyanosis, Hypoglycemia |
ORPHA:137675 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Respiratory insufficiency, Emphysema, ... |
ORPHA:90349 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter... |
OMIM:610655 |
| Pulmonary Hypertension, Primary, 1 |
|
Telangiectasia, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Pulmonary ... |
OMIM:178600 |
| Tuberous Sclerosis Complex |
|
Generalized abnormality of skin, Respiratory distress, Pulmonary lymphangiomyomatosis, Respirator... |
ORPHA:805 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate |
ORPHA:3201 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Resp... |
ORPHA:99125 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Respiratory distress, Hyperglycinemia, Hyperammonemia, Methylmalonic acidemia |
OMIM:251000 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Hypoglycemia, Respiratory insufficiency, Hyperalaninemia, Respiratory failure |
OMIM:618329 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hypoalbuminemia, Hypoglycemia, Respiratory distress, Hyperbilirubinemia, Deat... |
OMIM:617156 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia |
ORPHA:79242 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Hypoxemia, Cyanosis |
ORPHA:439 |
| Methylmalonic Aciduria, Cblb Type |
|
Hypoglycemia, Elevated circulating propionylcarnitine concentration, Respiratory distress, Hyperg... |
OMIM:251110 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent respiratory infections, Cutane... |
ORPHA:647 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Nasal mucosa te... |
OMIM:187300 |
| Japanese Encephalitis |
|
Abnormal pattern of respiration, Respiratory distress, Pulmonary edema, Hyponatremia, Irregular r... |
ORPHA:79139 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Death in childhood |
OMIM:613848 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip |
OMIM:618021 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Respiratory distress, Cutis marmorata, Pleural effusion, Pulmonary infiltrates, Vascu... |
ORPHA:3260 |
| Dermatomyositis |
|
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Acrocyanosis, Lung adenocarcinoma, Eleva... |
ORPHA:221 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl... |
OMIM:616367 |
| Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility |
ORPHA:335 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Respiratory failure, Hypocalcemia, Respiratory insufficiency |
ORPHA:746 |
| Digeorge Syndrome |
|
Recurrent pneumonia, Recurrent sinusitis, Hypocalcemia, Atelectasis |
OMIM:188400 |
| Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Aspiration pneumonia, Pulmonary infiltrates, Jaundice, Abnormal lung m... |
ORPHA:646 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Emphysema, Death in infancy |
OMIM:224690 |
| Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax, Bruising susceptibility |
OMIM:614816 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure |
ORPHA:803 |
| Neonatal Marfan Syndrome |
|
Emphysema, Neonatal respiratory distress, Hypoxemia |
ORPHA:284979 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Apnea, Respiratory failure |
OMIM:617301 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
| Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
| Tetanus |
|
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Cyanosis, Respiratory insufficiency |
OMIM:617239 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Trisomy 8Q |
|
Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi... |
ORPHA:1752 |
| Leigh Syndrome |
|
Hypoglycemia, Hyperalaninemia, Respiratory failure, Abnormal pattern of respiration |
ORPHA:506 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Nodula... |
OMIM:130050 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue fasciculations, Tongue atrophy |
OMIM:614678 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Elevated circulating creatinine concentration, Increased blood urea nitroge... |
OMIM:274150 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypoglycemia, Respiratory distress, Apnea, Recurrent respiratory infections, Methylmalonic acidemia |
ORPHA:17 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Cyanosis, Orthopnea, Dyspnea, Hypoxemia |
ORPHA:97292 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Respiratory failure, Increased circulating ferritin concentration |
ORPHA:3240 |
| Joubert Syndrome 18 |
|
Cleft palate, Lobulated tongue |
OMIM:614815 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Total anomalous pulmonary venous return, Bilateral trilobed lung |
OMIM:306955 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Hereditary Mucoepithelial Dysplasia |
|
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth |
ORPHA:1839 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia |
OMIM:619708 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea |
ORPHA:97285 |
| Colchicine Poisoning |
|
Cardiorespiratory arrest, Hypomagnesemia, Respiratory distress, Hypocalcemia, Hypokalemia, Hypona... |
ORPHA:31824 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Hyperbilirubinemia, Hypocalcemia, Stillbirth |
OMIM:259720 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bifid tongue, Bilateral cleft palate |
ORPHA:2001 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Polyhydramnios, Cleft palate |
ORPHA:1790 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Craniofaciofrontodigital Syndrome |
|
Premature skin wrinkling, Respiratory distress, Palmoplantar cutis laxa, Prominent superficial ve... |
ORPHA:363705 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
| Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate |
OMIM:618356 |
| Postinfectious Vasculitis |
|
Pneumonia, Palpable purpura, Elevated haptoglobin level, Cutis marmorata, Abnormal circulating pr... |
ORPHA:48435 |
| Meier-Gorlin Syndrome 6 |
|
Emphysema, Recurrent respiratory infections |
OMIM:616835 |
| Alfadhel Syndrome |
|
Nasal flaring |
OMIM:620655 |
| Coccidioidomycosis |
|
Pneumonia, Respiratory distress, Exudative pleural effusion, Parenchymal consolidation, Pulmonary... |
ORPHA:228123 |
| Arthrogryposis, Distal, Type 5D |
|
Furrowed tongue, Open mouth, Narrow mouth, Tongue atrophy, Cleft palate |
OMIM:615065 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Mgat2-Cdg |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:79329 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Maternal diabetes, Respiratory failure, Pulmonary hypoplasia |
ORPHA:3404 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Hypoalbuminemia |
ORPHA:505248 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Tongue atrophy |
OMIM:620285 |
| Orofaciodigital Syndrome Ii |
|
Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ... |
OMIM:252100 |
| Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... |
OMIM:245150 |
| Carey-Fineman-Ziter Syndrome |
|
Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate, Glossoptosis... |
ORPHA:1358 |
| Orofaciodigital Syndrome Type 3 |
|
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to... |
ORPHA:2752 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Hyperalaninemia, Elevated circulating alp... |
OMIM:615273 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Respiratory distress, Cyanosis, Hy... |
ORPHA:97214 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Furrowed tongue |
ORPHA:140936 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Elevated circulating creatine kinase concentration |
OMIM:616538 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microglossia, Exaggerated median tongue furrow, Long philtrum, Oligohydramnios, Tented upper lip ... |
OMIM:608670 |
| Psoriasis 14, Pustular |
|
Furrowed tongue, Geographic tongue |
OMIM:614204 |
| Otospondylomegaepiphyseal Dysplasia |
|
Polyhydramnios, Bifid uvula, Glossoptosis, Cleft palate |
ORPHA:1427 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections |
ORPHA:177907 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
| Costello Syndrome |
|
Pneumothorax, Respiratory failure, Hypoglycemia, Respiratory insufficiency |
OMIM:218040 |
| Lethal Acantholytic Erosive Disorder |
|
Fragile skin, Respiratory failure |
ORPHA:158687 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Pachyonychia Congenita 3 |
|
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip |
OMIM:615726 |
| Leptospirosis |
|
Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Jaundice, Hyperproteinemia |
ORPHA:509 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hyperglycinemia, Hyperammonemia, Methylmalonic acidemia |
OMIM:251100 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Hypoglycemia, Respiratory distress, Hype... |
ORPHA:79282 |
| Poliomyelitis |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Purpura, Urticaria |
ORPHA:343 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress |
OMIM:619272 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Glycosuria |
ORPHA:589 |
| Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
| Ellis Van Creveld Syndrome |
|
Emphysema, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress |
ORPHA:141083 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:217980 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
| Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
| Kniest Dysplasia |
|
Respiratory distress |
OMIM:156550 |
| Tarp Syndrome |
|
Meckel diverticulum, Oligohydramnios, High palate, Glossoptosis, Tongue nodules, Cleft palate |
OMIM:311900 |
| Orofaciodigital Syndrome I |
|
Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ... |
OMIM:311200 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Oligohydramnios, Orofacial cleft, Tracheoesophageal fistula, Hi... |
ORPHA:958 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, High palate, Glossoptosis... |
OMIM:611209 |
| Biotinidase Deficiency |
|
Respiratory distress, Hyperventilation, Apnea, Hyperammonemia |
ORPHA:79241 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hamartomatous polyposis, Glossitis, Protein-losing enteropathy, Xerostomia |
OMIM:175500 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Steatorrhea |
OMIM:260400 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... |
ORPHA:2751 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Tongue atrophy |
OMIM:614153 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion, High palate, Short phil... |
OMIM:616449 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, Narrow mouth, Jejunal atresia, Hypodontia, High palate, Anal at... |
ORPHA:989 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin wrinkling, Emphysema, Prematu... |
ORPHA:90348 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bifid uvula, Downturned corners of mouth, Furrowed tongue, Increased nuchal translucency, Open mo... |
ORPHA:453499 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Emphysema, Unilateral lung agenesis, Respiratory failure |
ORPHA:500150 |
| Sarcoidosis |
|
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal nasa... |
ORPHA:797 |
| Mandibuloacral Dysplasia |
|
Dental crowding, High palate, Hypoplasia of teeth, Abnormal tongue morphology |
ORPHA:2457 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Adnp Syndrome |
|
Respiratory distress, Recurrent upper respiratory tract infections |
ORPHA:404448 |
| Campomelic Dysplasia |
|
Recurrent upper respiratory tract infections, Neonatal respiratory distress, Respiratory distress... |
OMIM:114290 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria |
ORPHA:100050 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d... |
OMIM:614437 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure, Death in childhood |
OMIM:618252 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Tongue atrophy |
ORPHA:276198 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary artery stenosis, Miscarriage, Respiratory failure, Pulmonary hypoplasia |
ORPHA:96334 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Hartnup Disease |
|
Gingivitis, Glossitis |
ORPHA:2116 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open... |
ORPHA:1452 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections, Neonatal ... |
OMIM:616268 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hypoglycemia, Recurrent hypoglycemia, Respiratory distress, Prolonged neonatal jaundice, Jaundice |
OMIM:256810 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Respiratory insufficiency due to muscle weakness, Elevated cir... |
OMIM:164310 |
| Generalized Pustular Psoriasis |
|
Cheilitis, Geographic tongue, Pedal edema |
ORPHA:247353 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis |
OMIM:615108 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Diastema, Furrowed tongue, Thin upper lip vermilion, Smooth philtrum, High palate |
OMIM:300534 |
| Steinert Myotonic Dystrophy |
|
Insulin resistance, Respiratory insufficiency, Hyperinsulinemia, Hypercholesterolemia, Respirator... |
ORPHA:273 |
| Acrodermatitis Enteropathica |
|
Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis |
ORPHA:37 |
| Agel Amyloidosis |
|
Tongue atrophy, Blepharochalasis, Xerostomia, Edema |
ORPHA:85448 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Elevated circulating creatine kinase concentration |
OMIM:618733 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Erythema, Dyspnea, Respiratory failure |
ORPHA:2556 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Cohen Syndrome |
|
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... |
ORPHA:193 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi... |
ORPHA:1507 |
| Orofaciodigital Syndrome Type 6 |
|
Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormal oral frenulum morphology, Hi... |
ORPHA:2754 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Respiratory failure, Elevated hepatic iron concentration |
OMIM:300868 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress |
ORPHA:1555 |
| Orofaciodigital Syndrome Type 1 |
|
Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op... |
ORPHA:2750 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Orofaciodigital Syndrome Vi |
|
Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p... |
OMIM:277170 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Neuroblastoma |
|
Respiratory distress, Increased circulating ferritin concentration |
ORPHA:635 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... |
OMIM:117650 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... |
ORPHA:352665 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis |
OMIM:615109 |
| Marfan Syndrome |
|
Emphysema, Pneumothorax, Pulmonary artery dilatation, Reduced subcutaneous adipose tissue |
OMIM:154700 |
| Gitelman Syndrome |
|
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Hypomagnesemia, Respiratory distre... |
ORPHA:358 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Flushing |
ORPHA:2131 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu... |
OMIM:616894 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa |
OMIM:123790 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Everted lower lip verm... |
ORPHA:570 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2519 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia |
ORPHA:83617 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Low plasma citrulline, Hyperalaninemia, Dyspnea, Hyperventi... |
ORPHA:255210 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper lip, Bifid tongue, Ana... |
OMIM:616300 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Generalized abnormality of skin, Pneumonia, Respiratory failure requiring a... |
ORPHA:95455 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:798 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
| Treacher-Collins Syndrome |
|
Abnormality of the dentition, Cleft upper lip, Tooth agenesis, Open bite, Abnormal dental enamel ... |
ORPHA:861 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomatitis |
OMIM:277380 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
| X-Linked Agammaglobulinemia |
|
Glossoptosis |
ORPHA:47 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress |
OMIM:183900 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress |
ORPHA:93259 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Recurrent upper respiratory tract infections, Respiratory tract infection |
OMIM:180849 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress |
ORPHA:93260 |
| Ramos-Arroyo Syndrome |
|
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon |
ORPHA:1051 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Furrowed tongue, Tented upper lip vermilion, Exaggerated cupid's bow, Everte... |
ORPHA:464738 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Glossitis, Stomatitis, Cleft palate |
ORPHA:79284 |
| Odontoonychodermal Dysplasia |
|
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... |
OMIM:257980 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Narrow palate, Microglossia, Dental crowding, Downturned corners of mouth, Long philtrum, Tooth a... |
OMIM:268310 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Cleft p... |
OMIM:613091 |
| Pitt-Hopkins Syndrome |
|
Hyperventilation, Acrocyanosis, Abnormal pattern of respiration |
ORPHA:2896 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Pulmonary artery stenosis, Neonatal insulin-dependent diabetes mellitus |
ORPHA:2255 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis |
OMIM:158350 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy |
OMIM:617114 |
| Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo... |
ORPHA:158668 |
| Robinow Syndrome |
|
Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc... |
ORPHA:97360 |
| Kasabach-Merritt Phenomenon |
|
Respiratory distress, Purpura, Hypopnea, Petechiae |
ORPHA:2330 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Furrowed tongue, Oral leukoplakia, Microdontia |
OMIM:148210 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Microglossia, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:254940 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Abnormal lung lobation |
ORPHA:508488 |
| Marfan Syndrome |
|
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation |
ORPHA:558 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
| Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru... |
ORPHA:769 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Generalized abnormality of skin, Premature skin wrinkling, Cyanosis, Exertion... |
ORPHA:740 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia |
OMIM:305100 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... |
OMIM:180700 |
| Smith-Lemli-Opitz Syndrome |
|
Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morphology, Abnormal dental m... |
ORPHA:818 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth... |
ORPHA:2108 |
| Autosomal Dominant Robinow Syndrome |
|
High, narrow palate, Downturned corners of mouth, Long philtrum, Open bite, Gingival overgrowth, ... |
ORPHA:3107 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Au-Kline Syndrome |
|
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodontia, Bifid ton... |
OMIM:616580 |
| Otopalatodigital Syndrome Type 2 |
|
Narrow mouth, Oligodontia, Anodontia, Glossoptosis, Cleft palate, Pierre-Robin sequence |
ORPHA:90652 |
| Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
| Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia |
ORPHA:79500 |
| Stuve-Wiedemann Syndrome 1 |
|
Carious teeth, Smooth tongue, Pursed lips, Oligohydramnios, Thin vermilion border |
OMIM:601559 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Glossitis |
ORPHA:35858 |
| Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress |
ORPHA:210122 |
| Marshall-Smith Syndrome |
|
Eclabion, Anteriorly placed anus, Gingival overgrowth, Irregular dentition, Microdontia, Short ph... |
OMIM:602535 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Hyperoxaluria, Acrocyanosis |
OMIM:259900 |
| Mucoepithelial Dysplasia, Hereditary |
|
Furrowed tongue, Erythematous oral mucosa |
OMIM:158310 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy |
ORPHA:101085 |
| Aicardi-Goutières Syndrome |
|
Prolonged neonatal jaundice, Acrocyanosis, Cutis marmorata, Diabetes mellitus |
ORPHA:51 |
| Yunis-Varon Syndrome |
|
High, narrow palate, Gingival recession, Broad secondary alveolar ridge, Premature loss of primar... |
ORPHA:3472 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Bruising susceptibility, Emphysema, Pneumothorax, Prominent superficia... |
OMIM:619472 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Hyperoxaluria, Acrocyanosis |
ORPHA:416 |
| Kawasaki Disease |
|
Strawberry tongue, Lip fissure, Glossitis, Cheilitis, Edema |
ORPHA:2331 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
| Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Respiratory failure, Respiratory insufficiency |
OMIM:304120 |
| Giant Cell Arteritis |
|
Glossitis |
ORPHA:397 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy |
ORPHA:99949 |
| Meckel Syndrome, Type 1 |
|
Natal tooth, Cleft upper lip, Intestinal malrotation, Oligohydramnios, Thin upper lip vermilion, ... |
OMIM:249000 |
| Catel-Manzke Syndrome |
|
Bifid uvula, Cleft upper lip, Narrow mouth, High palate, Glossoptosis, Cleft palate, Pierre-Robin... |
OMIM:616145 |
| Proteus Syndrome |
|
Pulmonary cyst, Bronchogenic cyst, Vascular skin abnormality, Abnormal lung lobation, Abnormal su... |
ORPHA:744 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad alveolar ridges, Cleft lip, Furrowed tongue, Smooth philtrum, High palate, Duodenal atresia |
OMIM:616975 |
| Cerebrocostomandibular Syndrome |
|
Short hard palate, Glossoptosis, Cleft palate |
ORPHA:1393 |
| Orofaciodigital Syndrome Type 14 |
|
Hamartoma of tongue, Accessory oral frenulum, Aplasia of the epiglottis, Bifid tongue, Supernumer... |
ORPHA:434179 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring |
ORPHA:466943 |
| Stickler Syndrome |
|
Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ... |
ORPHA:828 |
| Orofaciodigital Syndrome Xiv |
|
Cleft lip, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Aplasia of the epiglottis, B... |
OMIM:615948 |
| Meckel Syndrome |
|
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Oligohydramnios, Cleft palate |
ORPHA:564 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Hypophosphatemic rickets, Cyanosis |
ORPHA:51608 |
| Glucagonoma |
|
Ascites, Intestinal obstruction, Steatorrhea, Glossitis, Stomatitis |
ORPHA:97280 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
| Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... |
ORPHA:287 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Macroglossia, High palate, ... |
ORPHA:444077 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea |
ORPHA:3206 |
| Distal Deletion 15Q |
|
Abnormality of the dentition, Thin upper lip vermilion, Bifid tongue, Short philtrum, Cleft palate |
ORPHA:1596 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Insulin resistance, Aspiration pneumonia, Respiratory distress, Hyperinsulinemia... |
ORPHA:79318 |
| Alström Syndrome |
|
Insulin resistance, Recurrent pneumonia, Recurrent upper respiratory tract infections, Respirator... |
ORPHA:64 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology |
ORPHA:653 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Prolonged neonatal jaundice, Pulmonary bleb, Neonatal hypoglycemia, Hy... |
ORPHA:821 |
| Cowden Syndrome |
|
Furrowed tongue, Colorectal polyposis, Macroglossia, High palate, Hamartomatous polyposis |
ORPHA:201 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy |
ORPHA:466768 |
| Microsporidiosis |
|
Glossitis, Dehydration |
ORPHA:2552 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis |
OMIM:303600 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis, Bruising susceptibility |
ORPHA:285 |
| Fraser Syndrome |
|
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Orofacial cleft, Anal atres... |
ORPHA:2052 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, Anal atresia, Hyd... |
ORPHA:93271 |
| Carney Complex |
|
Abnormal hard palate morphology, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the sto... |
ORPHA:1359 |
