Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... |
ORPHA:276575 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge... |
ORPHA:324575 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... |
ORPHA:45452 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Respiratory paralysis, Tachycardia, Dia... |
OMIM:121300 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pancreatic islet hyper... |
ORPHA:276556 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... |
OMIM:610476 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Failure to thrive, Glucose intolerance, Constipation, Gastroesophageal reflux, Arrhythmia, Impair... |
OMIM:610131 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... |
ORPHA:276608 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... |
ORPHA:563 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Ortho... |
OMIM:613838 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
Immunodeficiency 77 |
|
Bronchiectasis, Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis |
OMIM:619223 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
Al Amyloidosis |
|
Abnormal P wave, Jaw claudication, Hepatomegaly, Abdominal distention, Nonproductive cough, Xeros... |
ORPHA:85443 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Feeding difficulties, Respiratory insufficiency, Dysphagia, Cardiom... |
OMIM:255100 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... |
OMIM:608758 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
Proximal Spinal Muscular Atrophy |
|
Constipation, Gastroesophageal reflux, Poor suck, Recurrent aspiration pneumonia, Dysphagia, Rest... |
ORPHA:70 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Rhinorrhea, Bradycardia |
OMIM:167400 |
Variegate Porphyria |
|
Tachycardia, Constipation, Vomiting, Abdominal pain |
OMIM:176200 |
Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Glucose intolerance, Constipation, Gastroesophageal reflux, Hyperthyroidism, L... |
ORPHA:254892 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Respiratory arrest, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Vom... |
OMIM:600649 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Sudden cardiac death, Impaired glucose tolerance, Myocardial infarction, Dia... |
OMIM:610947 |
Atrial Septal Defect, Sinus Venosus Type |
|
Supraventricular arrhythmia, Airway obstruction, Atrial arrhythmia, Systolic heart murmur, Right ... |
ORPHA:99105 |
Prader-Willi Syndrome |
|
Central adrenal insufficiency, Vomiting, Decreased inhibin B level, Hypogonadism, Abdominal obesi... |
ORPHA:739 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Left ventricular hyper... |
OMIM:612098 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Tachypnea, Respiratory f... |
ORPHA:264675 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertension, Obesity |
ORPHA:71529 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Familial Dilated Cardiomyopathy |
|
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... |
ORPHA:217607 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hypertension... |
ORPHA:79084 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... |
OMIM:604400 |
Mungan Syndrome |
|
Tricuspid regurgitation, Abdominal pain, Pulmonic stenosis, Hypoperistalsis, Intestinal pseudo-ob... |
OMIM:611376 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Respiratory distress, Abdominal pain, Palpitations, Tachycardia, Arrhythmia, V... |
ORPHA:464453 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Intracranial hemorrhage, ... |
ORPHA:449285 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac arrest, N... |
ORPHA:70587 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Premature ventricular contraction, Neonatal hypoglycemia, Hypotension, Hypoglycemia... |
OMIM:212138 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98754 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Failure to thrive, Small for gestational age, Respiratory insufficiency, Arrhythmia, Gastroparesi... |
OMIM:614052 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98793 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177901 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... |
OMIM:611528 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Tachycardia, Autoimmune hemolytic anemia, Exertional dyspnea, Congestive heart failure |
ORPHA:90037 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Hepatomegaly, Tachycardia, Hypoglycemia, Hyperventilation, Dyspnea |
OMIM:229700 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Mgat2-Cdg |
|
Respiratory distress, Failure to thrive, Abnormality of the endocrine system, Gastroesophageal re... |
ORPHA:79329 |
Prader-Willi-Like Syndrome |
|
Central adrenal insufficiency, Decreased inhibin B level, Abnormality of the endocrine system, Pr... |
ORPHA:398073 |
Cardiomyopathy, Dilated, 1P |
|
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure |
OMIM:609909 |
Mercury Poisoning |
|
Respiratory distress, Episodic abdominal pain, Anorexia, Interstitial pneumonitis, Tachycardia, E... |
ORPHA:330021 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis |
ORPHA:2768 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tachycardia, Dyspnea, At... |
OMIM:613873 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Episodic tachypnea, Small for gestational age, Feed... |
ORPHA:26793 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Right... |
ORPHA:860 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
Coronary Arterial Fistula |
|
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... |
ORPHA:2041 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... |
OMIM:614954 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... |
OMIM:609040 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Tachycardia, Diarrhea, Apneic episodes in... |
ORPHA:348 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Necrotizing enterocolitis, Gastroparesis, Intestinal obstruction, Esopha... |
OMIM:619350 |
Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death |
OMIM:615770 |
Mahvash Disease |
|
Type II diabetes mellitus, Abdominal pain, Palpitations, Pancreatic alpha-cell hyperplasia, Recur... |
OMIM:619290 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Ventricular arrhyth... |
OMIM:601493 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... |
OMIM:601144 |
Sepsis In Premature Infants |
|
Hepatomegaly, Diarrhea, Vomiting, Abnormal mucociliary clearance, Gastrointestinal dysmotility, J... |
ORPHA:90051 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Arrhythmia, Diarrhea, Hypotension, Tachypnea, Vomiting, Reduced left ventricular eje... |
ORPHA:542323 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism |
OMIM:603373 |
Chops Syndrome |
|
Sleep apnea, Constipation, Gastroesophageal reflux, Tracheomalacia, Aspiration pneumonia, Splenom... |
OMIM:616368 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hypoglycemia, Feeding diffi... |
OMIM:619048 |
Porphyria, Acute Intermittent |
|
Paralytic ileus, Constipation, Abdominal pain, Respiratory paralysis, Tachycardia, Hepatocellular... |
OMIM:176000 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... |
OMIM:600884 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
Carney Triad |
|
Abdominal pain, Adrenocortical adenoma, Anorexia, Tachycardia, Arrhythmia, Mediastinal lymphadeno... |
ORPHA:139411 |
Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... |
OMIM:604145 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Feeding difficulties |
OMIM:609975 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Palpitations, Tachycardia, Goiter, Weight loss |
OMIM:188580 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Prolonged ... |
ORPHA:66529 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Abdominal pain, Epistaxis, Tachycardia, Leukopenia, Diarrhea, Hypoten... |
ORPHA:91547 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Constipation, Feeding difficulties, Spl... |
OMIM:613327 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Exertional dy... |
ORPHA:90033 |
Systemic Sclerosis |
|
Telangiectasia, Intestinal bleeding, Gastroesophageal reflux, Raynaud phenomenon, Right ventricul... |
ORPHA:90291 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... |
OMIM:618920 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Tetanus |
|
Respiratory distress, Abdominal pain, Tachycardia, Tachypnea, Dysphagia, Hypertension, Bowel inco... |
ORPHA:3299 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... |
OMIM:607450 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia, Feeding difficulties in in... |
OMIM:606528 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Dysphagia, Abnormal pattern of respirati... |
ORPHA:77260 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... |
OMIM:612124 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Gastroparesis, Abdominal distention, Malnutrition, Abdominal pain |
OMIM:277320 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Ventricular arrhythmia, Increased left ... |
OMIM:613424 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Anorexia, Diarrhea, Paroxysmal atrial tachycardia, Diabetes mellitus, Throm... |
ORPHA:49827 |
Tularemia |
|
Respiratory distress, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical lymphade... |
ORPHA:3392 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Cachexia, Gastroparesis, Abdominal distention |
ORPHA:1876 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block |
OMIM:192605 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... |
OMIM:540000 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Abdominal cramps, Early satiety, Constipation, Abdominal pain, Cachexia, Diarrhea,... |
OMIM:603041 |
Atrial Standstill 1 |
|
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... |
OMIM:108770 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... |
OMIM:619747 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Feeding ... |
ORPHA:79644 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... |
OMIM:171420 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, T-w... |
OMIM:608751 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy, Atrial fibril... |
OMIM:612158 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Feeding difficulties, Hypergonadotropic hypogonadism, Tachycardia, Obesity, Hyperglycemia |
OMIM:619737 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Hepatomegaly, Ta... |
ORPHA:137675 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... |
ORPHA:263297 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hepatic failure, Hypoketotic hypoglycemia, Respiratory insufficiency, Arrhythmia, H... |
ORPHA:159 |
Hereditary Coproporphyria |
|
Abdominal pain, Small intestinal dysmotility, Respiratory insufficiency, Tachycardia, Episodic vo... |
ORPHA:79273 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... |
OMIM:604169 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Sudden cardiac death, Tachycardia, Chronic hepa... |
OMIM:614921 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Goiter, Tachycardia, Weight loss |
OMIM:613239 |
Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Hydroxykynureninuria |
|
Breathing dysregulation, Stomatitis, Tachycardia, Hypotension |
ORPHA:79155 |
Cholera |
|
Abdominal cramps, Abdominal pain, Hypovolemic shock, Aspiration pneumonia, Tachycardia, Diarrhea,... |
ORPHA:173 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval |
OMIM:220400 |
Visceral Myopathy 1 |
|
Constipation, Abdominal distention, Pancreatitis, Abdominal pain, Diarrhea, Vomiting, Malnutritio... |
OMIM:155310 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Dilated cardiomyopathy, Gastroparesis |
ORPHA:70595 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Vomiting, Myocardial ... |
ORPHA:90068 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Premature ventricular contraction, Syncope |
OMIM:192445 |
Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mitral regurgitation, Respiratory insufficiency, Dilated cardiomyopathy, Dysphagia, Intestinal ps... |
OMIM:607459 |
Myopathy, Myofibrillar, 1 |
|
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1Ii |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
Tenorio Syndrome |
|
Apnea, Hypoinsulinemia, Gastroesophageal reflux, Raynaud phenomenon, Syncope, Hypoglycemia, Stoma... |
OMIM:616260 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... |
ORPHA:99103 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary obstruction, Splen... |
ORPHA:2414 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Neutrophilia, Diarrhea, Weight loss, Lymphadenopathy, Abnormal mast cell morphology... |
ORPHA:98849 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Hypertension, Anemia, Hyperhidrosis |
OMIM:184850 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Tube feeding, Episodic tachypnea, Aspiration pneumonia, Tachycardia, Dysphagia, Hyperhidrosis |
ORPHA:79264 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Arrhythmia, Impaired glucose tolerance, Diabetes me... |
OMIM:606069 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Apnea, Gastroesophageal reflux, Feeding difficulties, Poor suck, Tachycardia, Retinal hemorrhage,... |
OMIM:614653 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Tachycardia, Insulin ... |
OMIM:602668 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Constipation, Gastroesophageal reflux, Orthostatic hypotension, Tachycardia, Diarrhea, Vomiting, ... |
OMIM:223900 |
Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Hyperhidrosis, Cardiomyopat... |
ORPHA:34217 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... |
ORPHA:300751 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Hemochromatosis, Type 1 |
|
Glucose intolerance, Testicular atrophy, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, H... |
OMIM:235200 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Necrotizing Enterocolitis |
|
Apnea, Bloody diarrhea, Abdominal distention, Leukocytosis, Small for gestational age, Peritoniti... |
ORPHA:391673 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Small for gestational age, Tachycardia, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... |
ORPHA:66628 |
Serotonin Syndrome |
|
Hepatic failure, Tachycardia, Diarrhea, Hypotension, Tachypnea, Nausea, Hypertension, Hyperhidrosis |
ORPHA:43116 |
Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Porphyria Variegata |
|
Ileus, Constipation, Inappropriate antidiuretic hormone secretion, Abdominal pain, Respiratory pa... |
ORPHA:79473 |
Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
Scorpion Envenomation |
|
Diarrhea, Glycosuria, Vomiting, Myocarditis, Hyperhidrosis, Hyperglycemia, Bundle branch block, T... |
ORPHA:466677 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... |
OMIM:613243 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Maternal diabetes, Insulin-resistant diab... |
OMIM:604367 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Gastroparesis, Nausea |
ORPHA:2828 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... |
OMIM:115000 |
Sick Sinus Syndrome 2 |
|
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Syncope, Atrial fibrillat... |
OMIM:163800 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Feeding difficulties, Pulmonic stenosis, Tachycardia, Tach... |
ORPHA:3426 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Failure to thrive, Hemophagocytosis, Abdominal pain, Chronic hepatitis... |
ORPHA:39812 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:179494 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Failure to thrive, Decreased body weight, Pulmonic stenosis, Mitral regurgitation, Sick sinus syn... |
OMIM:616201 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Hypergonadotropic hypogonadism, Testicular atrophy, Dysphagia, Gastroparesis |
OMIM:157640 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Tachycardia, Anisopoikilocyto... |
ORPHA:35858 |
Acute Intermittent Porphyria |
|
Ileus, Constipation, Abdominal distention, Abdominal pain, Respiratory paralysis, Weakness of mus... |
ORPHA:79276 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... |
OMIM:612347 |
Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia |
ORPHA:104 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... |
OMIM:300952 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... |
ORPHA:71275 |
American Trypanosomiasis |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Achalasia, Diarrhea, Arrhythmia, Abnormal large intes... |
ORPHA:3386 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Diarrhea, Vomiting, Pneumonia, Respiratory failure, Hyperhidrosis, ... |
ORPHA:340 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Exertional dyspnea, Tachycardia |
ORPHA:90036 |
Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Gastroesophageal reflux, Bronchospasm, Feeding difficulties in infancy, Cardiorespiratory ... |
OMIM:608800 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hypertension, Hepatic steatosis, R... |
ORPHA:363400 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gastroparesis, Bowel incontinence |
OMIM:618877 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Abdominal pain, Abdominal distention, Anorexia, Tachycard... |
ORPHA:521219 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Dysphagia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block |
OMIM:615616 |
Congenital Fibrinogen Deficiency |
|
Abdominal pain, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Interna... |
ORPHA:335 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Neutrophilia, Hemothorax, Hepatic fail... |
ORPHA:99827 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dysphagia, Exertional dyspnea, Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:368 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses |
OMIM:166740 |
Acute Transverse Myelitis |
|
Paralytic ileus, Constipation, Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Ga... |
ORPHA:139417 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... |
ORPHA:330001 |
Mpi-Cdg |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diarrhe... |
ORPHA:79319 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Decreased circulating T4 concentration, Constipation, Abdominal distention,... |
ORPHA:226313 |
Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Gastritis, Tachycardia, Abnormal pattern of respiration, Hypotensi... |
ORPHA:31826 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Abdominal pain, Peritonit... |
ORPHA:36234 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Constipation, Episodic vomiting, Hypothyroidism, Feeding difficulties in infancy, Nasogastric tub... |
ORPHA:453504 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Constipation, Episodic vomiting, Hypothyroidism, Feeding difficulties in infancy, Nasogastric tub... |
ORPHA:352665 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Respiratory insufficiency, Hypertrophic cardiomyopathy, Failure t... |
OMIM:618378 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia, Hypercapnia |
OMIM:601887 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Feeding difficulties, Small for gestational ag... |
ORPHA:79237 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Anemia, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Neoplasm of the liver, Hypoinsulinemia, Constipation, Pelvic mass, Abnormality of the peritoneum,... |
ORPHA:2126 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... |
OMIM:171300 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped metacarpal epiphyses, Metaphyseal irregularity, Cone-shaped epiphyses of the phalange... |
OMIM:250220 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Hepatomegaly, Pancreatitis, Feeding difficulties, Spleno... |
ORPHA:79312 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Feeding difficulties, Poor suck, Hypertrophic cardiomyopathy, Respiratory failure, Bradyca... |
OMIM:616277 |
Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... |
ORPHA:90647 |
Paragangliomas 4 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Paraganglioma of head and ne... |
OMIM:115310 |
Typhoid |
|
Cardiac arrest, Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Diarrhea, Arrhythmia, C... |
ORPHA:99745 |
16P12.1P12.3 Triplication Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Tachycardia, Abnormal i... |
ORPHA:485405 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Feeding difficulties, Poor suck, Neutropenia, Respiratory failure, Bradycardia |
OMIM:617248 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... |
OMIM:249700 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic dysfunction, Cirrhosis, Ele... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1Y |
|
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... |
OMIM:611878 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Abdominal pain, Splenomegaly, Arrhythmia, Hemolytic anemia, Dyspne... |
ORPHA:98375 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Orthostatic hypotension, Diarrhea, Vomiting, Syncope, Orthostatic syncope, Hypo... |
ORPHA:230 |
Pediatric-Onset Graves Disease |
|
Graves disease, Hepatomegaly, Increased circulating free T3, Diarrhea, Atrial fibrillation, Puber... |
ORPHA:525731 |
Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Respiratory insufficiency, Feeding difficulties, Bradycardia |
OMIM:614654 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Naxos Disease |
|
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... |
OMIM:601214 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... |
OMIM:615916 |
Andersen-Tawil Syndrome |
|
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... |
ORPHA:37553 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Femoral bowing, Fibular... |
OMIM:600785 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Right ventricular hypertrophy, Left ventricula... |
ORPHA:444013 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... |
OMIM:613690 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Premature thelarche, Prolonged QTc interval, Hypothyroidism, Hypoglycemia, Pr... |
OMIM:616878 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Aspiration pneumonia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Vom... |
ORPHA:94093 |
Marburg Hemorrhagic Fever |
|
Odynophagia, Pancreatitis, Diarrhea, Vomiting, Reticulocytosis, Pericarditis, Jaundice, Lymphaden... |
ORPHA:99826 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Tachycardia, Dilated cardiomyopathy, Syncope |
OMIM:615821 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
Hydrocephalus With Associated Malformations |
|
Lower limb undergrowth, Tibial bowing, Omphalocele, Short lower limbs |
OMIM:236640 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Absence Of The Pulmonary Artery |
|
Systolic heart murmur, Nonproductive cough, Tachycardia, Orthopnea, Reduced left ventricular ejec... |
ORPHA:980 |
Familial Dysautonomia |
|
Gastroesophageal reflux, Orthostatic hypotension, Tachycardia, Hypohidrosis, Abnormality of the p... |
ORPHA:1764 |
Timothy Syndrome |
|
Hypothyroidism, Hypoglycemia, Pneumonia, Prolonged QT interval, Cardiomegaly, Bradycardia |
OMIM:601005 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Failure to thrive in infancy... |
ORPHA:231226 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, S... |
ORPHA:729 |
Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Left bundle branch block, Congestive heart failure, Hepatomegaly, Sudden ca... |
OMIM:115197 |
Mastocytosis |
|
Telangiectasia of the skin, Asthma, Hepatomegaly, Splenomegaly, Anorexia, Respiratory insufficien... |
ORPHA:98292 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Constipation, Feeding difficulties in infancy, Elevated c... |
ORPHA:95717 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Hepatomegaly, Heart murmur, R... |
ORPHA:97214 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Respirato... |
ORPHA:549 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Gastroparesis, Feeding difficulties in infancy, Absent gallbladder, Dysp... |
ORPHA:500150 |
Gitelman Syndrome |
|
Failure to thrive, Constipation, Abdominal pain, Palpitations, Vomiting, Hypotension, Increased c... |
OMIM:263800 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Renal Nutcracker Syndrome |
|
Abdominal pain, Orthostatic hypotension, Tachycardia, Syncope, Weight loss, Nausea, Anemia |
ORPHA:71273 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent gastroenteritis, Airway obstruction, Tricuspid regurgitation, Hyp... |
ORPHA:505248 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Primary Lipodystrophy |
|
Angina pectoris, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Insulin resist... |
ORPHA:90970 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... |
ORPHA:231214 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Pneumonia, Increased body ... |
ORPHA:2298 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Wh... |
OMIM:211600 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... |
OMIM:613426 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Alstrom Syndrome |
|
Asthma, Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth ho... |
OMIM:203800 |
Occipital Horn Syndrome |
|
Gastroesophageal reflux, Poor suck, Cholestasis, Hepatitis, Esophagitis, Abnormal esophagus physi... |
ORPHA:198 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea, Gastroesophageal reflux, Feeding difficulties, Third degree atrioventricular block, Bradyc... |
OMIM:619814 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction |
OMIM:612956 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Abnormal cardiovascular system phy... |
ORPHA:79086 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad metacarpals, Bowing of the legs, Broad phalanx, Short metacarpal, Flared iliac wing, Triang... |
OMIM:271665 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Neonatal hypoglycemia, Ascites, Cardiomyopathy, ... |
OMIM:261740 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Glucose intolerance, Impaired glucose tolerance, Atrioventricular block, Brady... |
OMIM:614407 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Diab... |
ORPHA:528 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Diarrhea, Vomiting, Dilated cardiomyopathy, Aspirati... |
OMIM:610768 |
Autoimmune Hypoparathyroidism |
|
Abdominal symptom, Abnormal left ventricular function, Autoimmune hypoparathyroidism, Ventricular... |
ORPHA:36913 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia |
OMIM:141000 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Plague |
|
Respiratory distress, Enlarged mesenteric lymph node, Bloody diarrhea, Hepatomegaly, Hematemesis,... |
ORPHA:707 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pancyt... |
OMIM:230800 |
Cardiospondylocarpofacial Syndrome |
|
Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Mitral regurgitation, Gastropar... |
OMIM:157800 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Diarrhea, Tachycardia, Vomiting, Episodic vomiting, Dilated cardiom... |
OMIM:618321 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... |
ORPHA:71212 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Sleep apnea, Decreased thyroid-... |
ORPHA:300373 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
Atrial Standstill 2 |
|
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... |
OMIM:615745 |
Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Splenomegal... |
ORPHA:280365 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... |
OMIM:617222 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphysis, Iliac crest serration, Rhizomelic arm shortening, Long fibula, Short palm,... |
ORPHA:93317 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... |
OMIM:263300 |
Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholec... |
ORPHA:131 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Abnormality of the thyroid gland, Arrhythmia, Diabetes mellitus, Dysphagia, Hypogonadism, Cardiom... |
OMIM:609286 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Gastroesophageal reflux, Arrhythmia, Sick sinus syndrome, Prolonged PR... |
ORPHA:542306 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... |
ORPHA:216694 |
Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Central adrenal insufficiency, Vomiting, Increased circulating prola... |
ORPHA:91347 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Hemolytic anemia, Targe... |
OMIM:603903 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Crohn's disease, Tricuspid regurgitation, B lymphocytopenia, Decr... |
OMIM:619705 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula, Inguinal hernia |
ORPHA:935 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Pancreatitis, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Palpitations, ... |
ORPHA:565612 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Persistent fetal circulation, Hypertrophic cardiomyopathy, Small for gestational ... |
OMIM:618775 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
Sheehan Syndrome |
|
Constipation, Central adrenal insufficiency, Decreased circulating cortisol level, Orthostatic hy... |
ORPHA:91355 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Diarrhea, Malformation of the hepat... |
OMIM:619849 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Constipation, Hypergonadotropic hypogonadis... |
ORPHA:273 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Metaphyseal irregularity, Flared metaphysis, Irregular epiphyses, Short femoral neck, Carpal bone... |
OMIM:610442 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
Gitelman Syndrome |
|
Respiratory distress, Graves disease, Constipation, Diarrhea, Type I diabetes mellitus, Primary h... |
ORPHA:358 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Abdominal distention, Severe fa... |
OMIM:246200 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Constipation, Impair... |
ORPHA:90673 |
Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Abnormal cardiac ventricular function, Weight loss, Lymphadenopath... |
ORPHA:797 |
Perlman Syndrome |
|
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
D-Glyceric Aciduria |
|
Failure to thrive, Gastroesophageal reflux, Hypoglycemia, Neonatal respiratory distress, Bradycardia |
OMIM:220120 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones |
OMIM:114000 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Hepatomegaly, R... |
OMIM:232300 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Ebstein Anomaly |
|
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... |
OMIM:224700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia |
OMIM:600996 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Constipation, Hyperthyroidism, Respiratory paralysis,... |
ORPHA:79102 |
Ogden Syndrome |
|
Apnea, Diarrhea, Vomiting, Enlarged kidney, Jaundice, Cardiomegaly, Torsade de pointes, Tube feed... |
OMIM:300855 |
Degcags Syndrome |
|
Hepatomegaly, Cholestasis, Pneumonia, Pancytopenia, Rhinitis, Feeding difficulties, Tracheomalaci... |
OMIM:619488 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Episodic abdominal pain, Absence of pubertal development, ... |
ORPHA:785 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant ... |
OMIM:151660 |
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Hepatomegaly, Cerebral hemorrhage, Respiratory insufficiency... |
OMIM:617397 |
Brugada Syndrome 5 |
|
Bundle branch block, ST segment elevation, Ventricular fibrillation |
OMIM:612838 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Ventricular escape... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Ventricular escape... |
ORPHA:98853 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Neuroendocrine neoplasm, Mitral regurgitation, Myeloid leukemia, Suprave... |
ORPHA:404443 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Obstructive sleep apnea |
OMIM:617877 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Abdominal cramps, Odynophagia, Diarrhea, Vomiting, Myocarditis, Rhinitis, H... |
ORPHA:319213 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Illum Syndrome |
|
Apnea, Bradycardia |
OMIM:208155 |
Cardiac Diverticulum |
|
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... |
ORPHA:1686 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Ventricular escape... |
ORPHA:98863 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... |
OMIM:211350 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentr... |
ORPHA:90674 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Constipation, Thyroid hypoplasia, Prolonged neonatal... |
ORPHA:226307 |
Truncus Arteriosus |
|
Abnormal heart valve physiology, Adrenocortical abnormality, Right ventricular hypertrophy, Pulmo... |
ORPHA:3384 |
Glossopharyngeal Neuralgia |
|
Odynophagia, Feeding difficulties, Oral-pharyngeal dysphagia, Syncope, Malnutrition, Jaw claudica... |
ORPHA:221098 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
Tyrosinemia, Type I |
|
Melena, Failure to thrive, Paralytic ileus, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosi... |
OMIM:276700 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Streak ovary, Tachycardia, Hypothyroidism, Delayed pu... |
ORPHA:1772 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Constipation, Abdominal distention, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, F... |
OMIM:218700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Acute pancreatit... |
OMIM:608594 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Poor suck, Mitral regurgitation, Rig... |
ORPHA:99125 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Decreased body weight, Hepatomegaly, Hyperinsuline... |
ORPHA:508 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Elevated hemoglobin A1c,... |
OMIM:269700 |
Prader-Willi Syndrome |
|
Abdominal obesity, Sleep apnea, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemi... |
OMIM:176270 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Abnormal T-wave, Decreased response... |
ORPHA:3464 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Tricuspid regurgitation, Premature ventricular contraction, Feeding difficulties, Mitral regurgit... |
OMIM:620066 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608612 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic hea... |
OMIM:619991 |
Cardiac-Urogenital Syndrome |
|
Tracheomalacia, Accessory spleen, Tachycardia, Hepatopulmonary fusion, Enlarged kidney |
OMIM:618280 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Failure to thrive, Decreased body weight, Aortic valve stenosis, Type... |
ORPHA:79474 |
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type |
|
Paroxysmal supraventricular tachycardia, Bradycardia |
OMIM:601375 |
Yellow Fever |
|
Supraventricular arrhythmia, Hematemesis, Neutrophilia, Leukocytosis, Abdominal pain, Pancreatic ... |
ORPHA:99829 |
Marshall-Smith Syndrome |
|
Apnea, Airway obstruction, Decreased body weight, Failure to thrive, Premature ventricular contra... |
OMIM:602535 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... |
OMIM:248370 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... |
ORPHA:99413 |
Turner Syndrome |
|
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... |
ORPHA:881 |
Mosaic Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... |
ORPHA:99228 |
Monosomy X |
|
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... |
ORPHA:99226 |
Alström Syndrome |
|
Respiratory distress, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, He... |
ORPHA:64 |
Legius Syndrome |
|
Pulmonic stenosis, Paroxysmal atrial tachycardia, Acute monocytic leukemia |
ORPHA:137605 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
OMIM:309801 |
Pmm2-Cdg |
|
Angina pectoris, Respiratory distress, Failure to thrive, Hyperinsulinemia, Elevated circulating ... |
ORPHA:79318 |