| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... |
ORPHA:2004 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis, Dysphagia |
OMIM:617055 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... |
ORPHA:1302 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Apnea |
OMIM:610992 |
| Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Dysphagia, Hyp... |
ORPHA:97285 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Dysphagia, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, C... |
ORPHA:50251 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... |
ORPHA:137914 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough,... |
ORPHA:2414 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:178320 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Dyspnea, Upper airway obstruction, Stridor, Anaplastic thyroid carci... |
ORPHA:142 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... |
OMIM:610913 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... |
OMIM:620265 |
| Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... |
ORPHA:254864 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchi... |
OMIM:613490 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Dysphagia |
OMIM:613561 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior |
OMIM:237310 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Adrenal insufficiency, Apnea, Adrenal hypoplasia |
OMIM:240200 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia |
ORPHA:464453 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Pancreatitis |
ORPHA:79312 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
| Nipah Virus Disease |
|
Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatic steatosis |
ORPHA:26792 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Hypogonadism |
OMIM:615993 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Cirrhosis, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea |
OMIM:178500 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia |
ORPHA:238459 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Apnea, Increased hepatic echogenicity, Hepatic steatosis |
OMIM:261680 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testic... |
OMIM:160900 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... |
ORPHA:226313 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Pancreatitis |
ORPHA:289916 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Hyper... |
OMIM:614299 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
| Pulmonary Arteriovenous Malformation |
|
Liver abscess, Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, P... |
ORPHA:2038 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactiv... |
OMIM:619580 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia |
OMIM:612776 |
| Buerger Disease |
|
Acrocyanosis, Hyperhidrosis |
ORPHA:36258 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis |
ORPHA:444013 |
| Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor, Dysphagia |
OMIM:207950 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Death in childhood |
OMIM:615597 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
| Myopathy And Diabetes Mellitus |
|
Type I diabetes mellitus, Respiratory distress |
ORPHA:2596 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... |
OMIM:615512 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes |
ORPHA:45452 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Elevated circulatin... |
OMIM:250790 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hyperactivity, Respiratory distress... |
ORPHA:209905 |
| Myasthenia Gravis |
|
Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, D... |
ORPHA:589 |
| Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles, Hyperhidrosis |
ORPHA:60041 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Intestinal Botulism |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dysphagia, Death in infancy |
ORPHA:178481 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Bruising susceptibility, Decreased testicula... |
ORPHA:335 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Abnormal mucociliary clearance, Splenomegaly, Jaundice, Dyspnea, Nasal fl... |
ORPHA:90051 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumon... |
ORPHA:1329 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Ta... |
ORPHA:60025 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia |
ORPHA:391428 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Neon... |
OMIM:300219 |
| Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Cyanosis, Maternal diabetes, Tachypnea, Hyperhidrosis, Hypoxemia |
ORPHA:860 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Splenomegaly, Hepatomegaly, Respiratory distress, Telangiectasia |
OMIM:608799 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia,... |
ORPHA:555874 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatomegaly, Portal hypertension, Respiratory insufficiency, Hepatosplenom... |
ORPHA:367 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepati... |
OMIM:231680 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Type I diabetes mellitus, Respiratory failure, Respiratory distress, Dysphagia |
OMIM:620166 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Tachypnea, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology |
ORPHA:247257 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Stridor, Macrovesicular hep... |
OMIM:615595 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Bruxism |
ORPHA:93958 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Diabetes insipidus, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanos... |
OMIM:225750 |
| Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism |
ORPHA:370924 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Respiratory insufficiency, Exertional dyspnea |
OMIM:614370 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Hepat... |
OMIM:212140 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Dysphagia, Inspiratory stridor |
ORPHA:100050 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, A... |
ORPHA:348 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Hepatosplenomegaly, Dysphagia, Neonatal ... |
OMIM:608013 |
| Dravet Syndrome |
|
Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
| Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hepatomegaly, Hypothyroidism, Respiratory distress |
ORPHA:254913 |
| Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Pancreatitis |
OMIM:251000 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central diabete... |
ORPHA:293987 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Cryptorchidism, Respiratory insufficiency |
ORPHA:1145 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... |
OMIM:220110 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysphagia |
ORPHA:98805 |
| Moebius Syndrome |
|
Respiratory distress, Hypogonadotropic hypogonadism, Decreased testicular size, Dysphagia |
OMIM:157900 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress |
OMIM:616733 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
| Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia |
ORPHA:3299 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
| Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Resp... |
ORPHA:50810 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi... |
OMIM:620278 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Palmoplantar cutis laxa, Neonatal death... |
OMIM:616482 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cryptorchidism, Acrocyanosis, Decreased testicular size |
ORPHA:1867 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... |
ORPHA:210122 |
| Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Abnormality of the gallbladder, Hyperhidrosis, Acrocyanosis, Vascul... |
ORPHA:349 |
| Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:3309 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Esophageal Atresia |
|
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... |
ORPHA:1199 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Pulmonary ... |
ORPHA:2519 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness |
ORPHA:544503 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... |
ORPHA:2905 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Cough, Erythema, Restrictive ventilatory defect, Dysphagia, Polydipsia, Pan... |
ORPHA:537 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Attention deficit hyperactivity disorder |
OMIM:619383 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
| Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re... |
ORPHA:31826 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia, Aggressive behavior |
ORPHA:488627 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea |
ORPHA:26793 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Hyperhidrosis |
ORPHA:37612 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Dysphagia, Urticaria, Cough, Acroc... |
ORPHA:183 |
| Q Fever |
|
Respiratory distress, Hepatomegaly, Pneumonia, Anorexia, Splenomegaly, Hepatitis, Hepatosplenomeg... |
ORPHA:781 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cryptorchidism, Cyanosis |
ORPHA:3304 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Cholangitis, Pulmonary embolism, Cough, Splenomegaly, Angi... |
ORPHA:3260 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Microvesicular hepatic steatosis, Jaundice, Cholestasis, ... |
OMIM:617156 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Hepatic fibrosis, Cardiorespiratory arrest |
OMIM:619879 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor... |
ORPHA:805 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivit... |
ORPHA:2131 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:187300 |
| Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Hepatosplenomegaly, Hydrocele testis,... |
ORPHA:79330 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Hyperhidrosis, Rhinitis... |
ORPHA:319213 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Hepatomegaly |
ORPHA:329178 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato... |
ORPHA:308552 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Abnormal liver lobulation, Respiratory insufficiency |
OMIM:608022 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Nocardiosis |
|
Respiratory distress, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... |
ORPHA:31204 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Macrovesicular hepatic ste... |
OMIM:617303 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Splenomegaly, Respiratory insufficiency, Respira... |
OMIM:252010 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Delayed puberty, Decreased tes... |
ORPHA:2326 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... |
ORPHA:363705 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Hepatomegaly, Neonatal respiratory distress, Exocrine pancreatic insufficiency |
OMIM:260400 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hepatitis, Cholestasis |
ORPHA:292 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, M... |
OMIM:256810 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Cryptorchidism, Abnormality of the pancreas |
ORPHA:1555 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension |
OMIM:619272 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hyperhidrosis, Hypopnea, Hepatic hemangioma, Petechiae, Purpura |
ORPHA:2330 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Respiratory distress |
OMIM:612852 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Dyspnea |
OMIM:115197 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Peritonitis, Tachypnea, Hepatitis, Ecchymosis |
ORPHA:36234 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimula... |
ORPHA:177907 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
| Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Peritonitis, Cirrhosis, Cough, Pleural effusion, Prosta... |
ORPHA:1546 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Hyperthyroidism, Pneumonia, Abnormality of the endocrine system, Splenomega... |
ORPHA:37042 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Cyanosis, Apnea |
OMIM:261740 |
| Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Respiratory insufficiency,... |
ORPHA:333 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Hepatic steatosis |
OMIM:616271 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hepatomegaly |
OMIM:251110 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Tachypnea, Polycystic ovaries, Cough |
ORPHA:137675 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Cyanosis, Tachypnea |
ORPHA:3427 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Cryptorchidism, Recurrent pneumonia |
OMIM:607143 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Adnp Syndrome |
|
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Abnormal te... |
ORPHA:404448 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Cryptorchidism, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Anhidrosis, Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands,... |
OMIM:305100 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Hepatomegaly, Anhidrosis, Restlessness, Oral-pharyngeal dysphagia, Hyperhid... |
OMIM:615273 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Ovarian cyst, Hyperparathyroidism, Splenic cyst |
OMIM:618188 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Acrocyanosis,... |
ORPHA:2896 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:365 |
| Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Salt craving, Maternal diabetes, Hyperhidrosis, D... |
ORPHA:358 |
| Listeriosis |
|
Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, Hepatic granu... |
ORPHA:533 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Biliary atresia, Congenital h... |
ORPHA:2255 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
| Japanese Encephalitis |
|
Respiratory distress, Anorexia, Respiratory paralysis, Inappropriate antidiuretic hormone secreti... |
ORPHA:79139 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Dyspnea, Cardiores... |
ORPHA:3342 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
| Tarp Syndrome |
|
Cryptorchidism, Cyanosis, Apnea |
ORPHA:2886 |
| Mgat2-Cdg |
|
Abnormality of the endocrine system, Hypoplastic nipples, Stereotypical hand wringing, Respirator... |
ORPHA:79329 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Unilateral breast hypoplasia, Abnormality of thyroid physiology |
OMIM:300968 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hepatomegaly |
OMIM:251100 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea |
ORPHA:2299 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Hepatomegaly, Apnea, Aggressive behavior, Hyperhidrosis, Hepatic steatosis |
ORPHA:17 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction |
OMIM:100800 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation |
ORPHA:255210 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Hyperhidrosis, Respiratory failure, Agitatio... |
ORPHA:340 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Polysplenia |
OMIM:616749 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Cyanosis, Asplenia, Biliary atresia, Abdominal situs inversus... |
OMIM:306955 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Hyperhidrosis, Agitation, Cough, Hyperve... |
ORPHA:90068 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Abnormality of the endocrine system, Abnormality of the spleen, ... |
ORPHA:228123 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Eisenmenger Syndrome |
|
Respiratory distress, Hepatomegaly, Cyanosis, Increased pulmonary vascular resistance, Wheezing, ... |
ORPHA:97214 |
| Familial Dysautonomia |
|
Abnormal peritoneum morphology, Hypohidrosis, Acrocyanosis, Hyperhidrosis |
ORPHA:1764 |
| Pachyonychia Congenita |
|
Respiratory distress, Palmoplantar hyperhidrosis |
ORPHA:2309 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Pleural effusion |
OMIM:620369 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Laryngeal dy... |
ORPHA:845 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Episodic hyperhidrosis, Acrocyanosis |
OMIM:223900 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Hypothyroidism |
ORPHA:3206 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Xerostomia, Self-mutilation |
ORPHA:1051 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hepatosplenomegaly, Stridor, Pulmonary arterial hypertension, Airway obstru... |
ORPHA:505248 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory... |
ORPHA:536467 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism |
ORPHA:79282 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Leptospirosis |
|
Respiratory distress, Hepatomegaly, Anorexia, Jaundice, Hepatitis, Cough, Pleural effusion |
ORPHA:509 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Orchitis, Vasculitis in ... |
ORPHA:48435 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Cryptorchidism, Emphysema, Breast hypoplasia |
OMIM:224690 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa |
OMIM:123790 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv... |
ORPHA:466943 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Streak ovary, Recurrent pneumonia, Central hypothyroidism, Dysphagia, Hepat... |
ORPHA:798 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Pancreat... |
ORPHA:83617 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Cryptorchidism, Dyspnea, Respiratory failure, Breast aplasia |
ORPHA:2554 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis,... |
ORPHA:99125 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Decreased serum leptin, Upper... |
ORPHA:740 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis, Adrenal calcification, Hepatic calcification, Pulmonary arterial ... |
ORPHA:51608 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin |
ORPHA:79404 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Tachypnea, Cyanosis, Hypoplasia of the thymus |
ORPHA:3384 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Bilateral cryptorchidism, Dysphagia, Abnorma... |
OMIM:616268 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... |
ORPHA:95455 |
| Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin |
OMIM:614748 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Hyperactivity, Ectopic posterior pituitary, Tics, Dysphagia, Exocrine pancr... |
ORPHA:508488 |
| Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... |
ORPHA:221 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Respiratory distress, Hyperactivity, Premature thelarche, Impulsivity, Bilatera... |
OMIM:180849 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cutis marmorata, Hepatosplenomegaly, Prolonged neonatal jaundice, Acrocyanosis... |
ORPHA:51 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Erythema, Respiratory failure, Abnormal testis morphology |
ORPHA:2556 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... |
OMIM:114290 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Cryptorchidism |
OMIM:166250 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Plague |
|
Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Acute infectious pneumonia |
ORPHA:707 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Hepatomegaly, Respiratory distress |
OMIM:617088 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... |
ORPHA:64 |
| Doors Syndrome |
|
Respiratory distress, Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism |
ORPHA:79500 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concen... |
ORPHA:480880 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax, Respiratory failure |
ORPHA:3404 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis, Apnea |
ORPHA:285 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
| Pmm2-Cdg |
|
Respiratory distress, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentr... |
ORPHA:79318 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
