Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... |
ORPHA:45452 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... |
ORPHA:264675 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... |
ORPHA:3282 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... |
OMIM:620085 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... |
OMIM:616414 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Tachypnea, Positive ferric chloride test |
OMIM:250900 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Elevated circulating C-reactive protein concentration, Di... |
ORPHA:178320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Episodic tachypnea, Hyperammonemia, Elevated circulating suberic acid c... |
OMIM:615160 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Crackles, Myocardial ... |
ORPHA:97292 |
Coronary Arterial Fistula |
|
Orthopnea, Abnormal EKG, Continuous heart murmur, Elevated jugular venous pressure, Tachycardia, ... |
ORPHA:2041 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Elevated circulating creatinine concentration, Capillary lea... |
ORPHA:542323 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Elevated circulating C-reactive protein concentration, No... |
ORPHA:36238 |
Acute Interstitial Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, Dyspnea, Ta... |
ORPHA:79126 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Elevated... |
ORPHA:26793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... |
OMIM:616501 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Bronchiectasis, Cough |
OMIM:619468 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... |
ORPHA:1329 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c... |
ORPHA:454836 |
Coach Syndrome 2 |
|
Hypertension, Apneic episodes in infancy, Elevated circulating creatinine concentration |
OMIM:619111 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Elevated circulating creatinine concentration |
OMIM:616733 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
Tetanus |
|
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,... |
ORPHA:3299 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating... |
ORPHA:90060 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Dyspnea, Arrhythmia, Myocardial infarction |
ORPHA:54057 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Tachypnea, Hyperammonem... |
OMIM:201475 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Hypertens... |
OMIM:602088 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Dilated cardiomyopathy, Respiratory insufficiency, Respiratory f... |
OMIM:614299 |
Preeclampsia |
|
Hypertension, Elevated systolic blood pressure, Elevated circulating creatinine concentration, El... |
ORPHA:275555 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Tachypnea, Hyperkalemia, Ventricular tachycard... |
ORPHA:423 |
Propionic Acidemia |
|
Apnea, Cerebellar hemorrhage, Tachypnea, Hyperglycinuria, Hyperammonemia, Cardiomyopathy, Hypergl... |
OMIM:606054 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Tachypnea, Hyperammonemia |
ORPHA:247525 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Elevated circulating p... |
OMIM:614857 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia |
ORPHA:79242 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Congestive heart failure, Tachypnea, Left ventricular outflow tract o... |
ORPHA:860 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cholera |
|
Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypovolemic ... |
ORPHA:173 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... |
OMIM:615838 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circula... |
ORPHA:90068 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Elevated circulating creatine kin... |
ORPHA:36234 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemia, Hypoornithi... |
OMIM:615751 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction, Elevated circulating crea... |
OMIM:274150 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:608836 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dyspnea, Elevated circulating creatinine concentration, Rh... |
ORPHA:230 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn... |
ORPHA:31826 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea,... |
ORPHA:60025 |
Rh Deficiency Syndrome |
|
Tachycardia, Tachypnea, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, Cough |
ORPHA:134 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Double Outlet Right Ventricle |
|
Tachycardia, Tachypnea, Heart murmur, Hypocalcemia, Pulmonic stenosis |
ORPHA:3426 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Aortic Arch Interruption |
|
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Hyperventilation |
OMIM:253270 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Hypertension |
OMIM:613320 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Dyspnea, Tachypnea, Aminoaciduria, Hypophosphatemia |
OMIM:239200 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Cough, Internal hemorrhage, Elevated circulating c... |
ORPHA:340 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Cardiac arrest, Dilated cardiomyopathy, Tachypnea, Hyperammonemia, Hyperuricemia, Hypotension |
ORPHA:20 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachypnea, Hypoxemia... |
ORPHA:555874 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... |
OMIM:613095 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Tachypnea, Hypotension |
ORPHA:43116 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Biotinidase Deficiency |
|
Tachypnea, Apnea, Hyperammonemia |
OMIM:253260 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Raynaud phenomenon, Tachypnea, Elevated circulating C-reactive protein concentration, Telangiectasia |
OMIM:615934 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Restrictive ventilatory defect, Elevated circulating creatinine concentration |
OMIM:614376 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin lesions, Ele... |
ORPHA:247691 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Neonatal hyperbilirubinemia, Tachy... |
ORPHA:3008 |
Sickle Cell Anemia |
|
Hypoxemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Crackles, Tachypnea, H... |
ORPHA:466650 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... |
OMIM:235400 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension |
OMIM:174000 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Tachypnea, Hypertension |
OMIM:613834 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Elevated circulating creatine kinase concentration, Hyperamylas... |
ORPHA:99826 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Tachypnea, Abnormal circulating citrulline concentration, Hyperammonemia |
ORPHA:415 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Aminoacid... |
ORPHA:411634 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Restrictive ventilatory defec... |
OMIM:233450 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Pauci-Immune Glomerulonephritis |
|
Dyspnea, Elevated circulating creatinine concentration, Arteritis, Cough, Small vessel vasculitis... |
ORPHA:93126 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Portal hypertension, Tachypnea, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, ... |
OMIM:613658 |
Double Outlet Left Ventricle |
|
Tachypnea, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia, Respiratory failure, Tachypnea, Respiratory insufficiency |
OMIM:618278 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
Yellow Fever |
|
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... |
ORPHA:99829 |
Papillorenal Syndrome |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:120330 |
Multiple Myeloma |
|
Hyperproteinemia, Pleural effusion, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Oligomeganephronia |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:730 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Systolic heart murmur |
OMIM:617478 |
Arima Syndrome |
|
Dyspnea, Tachypnea, Hypertension |
OMIM:243910 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Hyperammonemia, Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
OMIM:220111 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Pulmonic stenosis |
ORPHA:3384 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Igg4-Related Kidney Disease |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... |
ORPHA:449395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Hypercholesterolemia, Cardiac arrest, Portal hyper... |
OMIM:619534 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Aminoaciduria, Elevated circulating creatinine concentration, Elevated circu... |
ORPHA:91500 |