Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology |
OMIM:609812 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Cholesterol Pneumonia |
|
Pneumonia, Death in infancy, Cough, Tachypnea |
OMIM:215030 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... |
ORPHA:60032 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... |
OMIM:619751 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... |
OMIM:167800 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea |
OMIM:616414 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... |
OMIM:265120 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... |
OMIM:610921 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... |
OMIM:300770 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... |
OMIM:260370 |
Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... |
ORPHA:454836 |
Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Central apnea, Episodic tachypnea, Tachypnea |
OMIM:611560 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... |
OMIM:604320 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory defect, Ne... |
ORPHA:2257 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... |
OMIM:610978 |
Joubert Syndrome 30 |
|
Apnea, Tachypnea |
OMIM:617622 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Episodic tachypnea, Apneic episodes in infancy |
ORPHA:163961 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... |
ORPHA:79126 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neonatal pneumothorax, Neo... |
ORPHA:217563 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dysphagia, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea |
OMIM:615838 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Tetanus |
|
Dysphagia, Respiratory distress, Tachypnea |
ORPHA:3299 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Fatigable weakne... |
ORPHA:60025 |
Atypical Rett Syndrome |
|
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea |
ORPHA:3095 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:608629 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Respiratory arrest, Tachypnea |
OMIM:201475 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613320 |
Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:614857 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea |
OMIM:220111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
Propionic Acidemia |
|
Apnea, Tachypnea |
OMIM:606054 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, Wheezing, Tachypnea,... |
ORPHA:1329 |
Coronary Arterial Fistula |
|
Exertional dyspnea, Pulmonary arterial hypertension, Orthopnea, Tachypnea |
ORPHA:2041 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Cough, Tachypnea |
ORPHA:134 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Polydipsia, Tachypnea |
OMIM:239200 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea |
ORPHA:26793 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Tachypnea |
ORPHA:2318 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Asthma, Central apnea, Respiratory failure requiring assisted ventilation, Tachypnea, Neonatal re... |
ORPHA:79345 |
Cholera |
|
Aspiration pneumonia, Miscarriage, Hyperventilation, Tachypnea |
ORPHA:173 |
Holocarboxylase Synthetase Deficiency |
|
Hyperventilation, Tachypnea |
OMIM:253270 |
Rh Deficiency Syndrome |
|
Hypoxemia, Miscarriage, Tachypnea |
ORPHA:71275 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea |
ORPHA:860 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Abnormal respiratory system physiology, Tachypnea, Exertional dyspnea, Dyspne... |
ORPHA:99106 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea |
OMIM:615934 |
Biotinidase Deficiency |
|
Apnea, Tachypnea |
OMIM:253260 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea |
ORPHA:36234 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Recurrent aspiration pneumonia, Chronic lung disease, Tachypnea |
ORPHA:397715 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Prostatitis, Abnormality of the thyroid gland, Sialadenitis, Xerost... |
ORPHA:449432 |
Double Outlet Right Ventricle |
|
Tachypnea |
ORPHA:3426 |
Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Cough, Tachypnea, Hyperventilation, Pneumothorax |
ORPHA:90068 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea |
OMIM:618278 |
Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Tachypnea |
ORPHA:20 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Abnormal respiratory sys... |
ORPHA:803 |
Joubert Syndrome 2 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:608091 |
Joubert Syndrome 1 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:213300 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, Tachypnea |
ORPHA:423 |
Pyruvate Carboxylase Deficiency |
|
Abnormal pattern of respiration, Tachypnea |
ORPHA:3008 |
Arima Syndrome |
|
Dyspnea, Tachypnea |
OMIM:243910 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure |
OMIM:613658 |
Histiocytoid Cardiomyopathy |
|
Cough, Tachypnea |
ORPHA:137675 |
Joubert Syndrome 5 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:610188 |
Goodpasture Syndrome |
|
Increased DLCO, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional dyspnea |
OMIM:233450 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
Scorpion Envenomation |
|
Abnormal nasal mucus secretion, Tachypnea |
ORPHA:466677 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Tachypnea |
ORPHA:2299 |
Exercise-Induced Malignant Hyperthermia |
|
Crackles, Hypocapnia, Tachypnea |
ORPHA:466650 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Tachypnea |
ORPHA:2751 |
Truncus Arteriosus |
|
Tachypnea |
ORPHA:3384 |