Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
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 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia |
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 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... |
OMIM:619290 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Neonatal death |
OMIM:620203 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,... |
OMIM:608189 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia |
OMIM:619751 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan... |
OMIM:167800 |
Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... |
ORPHA:552 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Tachypnea |
OMIM:620085 |
Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... |
OMIM:615363 |
Atypical Rett Syndrome |
|
Restrictive behavior, Bruxism, Inappropriate laughter, Sudden episodic apnea, Episodic tachypnea,... |
ORPHA:3095 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Choking episodes, Tachypnea, Dysphagia |
ORPHA:60032 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea |
OMIM:267450 |
Joubert Syndrome 7 |
|
Episodic tachypnea, Tachypnea, Central apnea |
OMIM:611560 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ... |
OMIM:615710 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Tachypnea, Apnea, Death in infancy, Neonatal death |
OMIM:265120 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Aggressive behavior, Tachypnea, Anorexia |
OMIM:237310 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Apnea, Dysphagia, Episodic tachypnea |
ORPHA:79264 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea |
OMIM:616414 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia |
ORPHA:163961 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Death in infancy |
OMIM:614299 |
High Altitude Pulmonary Edema |
|
Tachypnea, Anorexia |
ORPHA:330012 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... |
ORPHA:64744 |
Acute Lung Injury |
|
Respiratory distress, Addictive alcohol use, Tachypnea |
ORPHA:178320 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Tachypnea, Intercostal retractions |
ORPHA:91359 |
Joubert Syndrome 9 |
|
Episodic tachypnea, Apnea |
OMIM:612285 |
Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia |
ORPHA:3299 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Tachypnea, Death in childhood, Death in infancy |
OMIM:613320 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachypnea |
ORPHA:264675 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Degeneration of anterior horn cells |
OMIM:604320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Tachypnea, Death in childhood |
OMIM:615838 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea |
OMIM:610921 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Nasal flaring |
ORPHA:70587 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
Multifocal Atrial Tachycardia |
|
Tachypnea |
ORPHA:3282 |
Propionic Acidemia |
|
Tachypnea, Apnea |
OMIM:606054 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Addictive alcohol use, Tachypnea |
ORPHA:36238 |
Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
Joubert Syndrome 3 |
|
Episodic tachypnea, Central apnea |
OMIM:608629 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
Pyruvate Dehydrogenase Deficiency |
|
Tachypnea |
ORPHA:765 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Agitation, Oral aversion, Anorexia |
ORPHA:134 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Tachypnea, Death in infancy |
OMIM:201475 |
Avian Influenza |
|
Respiratory distress, Tachypnea, Miscarriage |
ORPHA:454836 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea |
OMIM:614857 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Tachypnea |
OMIM:300770 |
Primary Pulmonary Hypoplasia |
|
Tachypnea, Apnea |
ORPHA:2257 |
Serotonin Syndrome |
|
Tachypnea, Restlessness, Agitation |
ORPHA:43116 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Tachypnea |
OMIM:610978 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea, Anorexia |
ORPHA:20 |
Joubert Syndrome 1 |
|
Episodic tachypnea, Self-mutilation, Aggressive behavior, Central apnea, Hyperactivity |
OMIM:213300 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea |
ORPHA:542323 |
Acute Interstitial Pneumonia |
|
Tachypnea |
ORPHA:79126 |
Hyperparathyroidism, Neonatal Severe |
|
Tachypnea, Polydipsia |
OMIM:239200 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy |
ORPHA:348 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea |
OMIM:615934 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachypnea |
ORPHA:860 |
Rh Deficiency Syndrome |
|
Tachypnea, Miscarriage |
ORPHA:71275 |
Cholera |
|
Tachypnea, Miscarriage |
ORPHA:173 |
Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Recurrent hand flapping, Tachypnea, Anorexia, Compulsive behaviors |
ORPHA:3008 |
Biotinidase Deficiency |
|
Tachypnea, Apnea |
OMIM:253260 |
Joubert Syndrome |
|
Episodic tachypnea, Apnea |
ORPHA:475 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Tachypnea, Central apnea |
ORPHA:79345 |
Ethylene Glycol Poisoning |
|
Addictive alcohol use, Tachypnea, Episodic respiratory distress |
ORPHA:31826 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
Double Outlet Right Ventricle |
|
Tachypnea |
ORPHA:3426 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Tachypnea |
ORPHA:217563 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea |
ORPHA:397715 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea |
OMIM:253270 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Tachypnea |
ORPHA:36234 |
Coronary Arterial Fistula |
|
Tachypnea |
ORPHA:2041 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Tachypnea |
OMIM:610913 |
Joubert Syndrome 2 |
|
Episodic tachypnea, Central apnea |
OMIM:608091 |
Complete Atrioventricular Septal Defect |
|
Tachypnea, Intercostal retractions |
ORPHA:1329 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
Cocaine Intoxication |
|
Respiratory distress, Tachypnea, Agitation |
ORPHA:90068 |
Joubert Syndrome 5 |
|
Aggressive behavior, Central apnea, Episodic tachypnea |
OMIM:610188 |
Pulmonary Alveolar Microlithiasis |
|
Tachypnea, Fatigable weakness |
ORPHA:60025 |
Orofaciodigital Syndrome Type 6 |
|
Episodic tachypnea, Apnea |
ORPHA:2754 |
Congenital Tricuspid Valve Dysplasia |
|
Tachypnea |
ORPHA:555874 |
Arima Syndrome |
|
Tachypnea, Polydipsia |
OMIM:243910 |
Smooth Muscle Dysfunction Syndrome |
|
Tachypnea |
OMIM:613834 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Death in childhood |
OMIM:618278 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea |
ORPHA:423 |
Atrial Septal Defect, Ostium Primum Type |
|
Tachypnea |
ORPHA:99106 |
Scorpion Envenomation |
|
Tachypnea, Restlessness |
ORPHA:466677 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Tachypnea |
ORPHA:415 |
Histiocytoid Cardiomyopathy |
|
Tachypnea |
ORPHA:137675 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Dysphagia, Death in infancy |
OMIM:220111 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea |
OMIM:613658 |
Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea |
ORPHA:2299 |
Exercise-Induced Malignant Hyperthermia |
|
Tachypnea |
ORPHA:466650 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dysphagia, Fatigable weakness of bulbar musc... |
ORPHA:803 |
Truncus Arteriosus |
|
Tachypnea |
ORPHA:3384 |
Goodpasture Syndrome |
|
Tachypnea |
OMIM:233450 |