Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... |
OMIM:611705 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block... |
OMIM:310300 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Increased variability in muscle fiber diameter, Death in childhood, Bradycardia... |
OMIM:620265 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... |
ORPHA:90064 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... |
OMIM:617182 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula... |
OMIM:601005 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... |
OMIM:616276 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Heart block... |
ORPHA:398124 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tach... |
ORPHA:49827 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... |
OMIM:212138 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... |
OMIM:619048 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Agitation, Palpitations, Pallor, Diffuse pancreatic islet hyp... |
ORPHA:276556 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomy... |
OMIM:618815 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Death in infancy, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Agitation, Palpitations, Pallor, Diffuse pancreatic islet hyp... |
ORPHA:276575 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Agitation, Palpitations, Pallor, Diffuse pancreatic islet hyp... |
ORPHA:276580 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card... |
ORPHA:98853 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se... |
ORPHA:26793 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block |
ORPHA:480 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Nathalie Syndrome |
|
Abnormal EKG, Skeletal muscle atrophy |
OMIM:255990 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... |
OMIM:615351 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Dys... |
OMIM:613561 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... |
ORPHA:330001 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Cln3 Disease |
|
Aggressive behavior, Vacuolated lymphocytes, T-wave inversion, Bradycardia, Dysphagia, Left ventr... |
ORPHA:228346 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... |
ORPHA:251274 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... |
OMIM:614302 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphys... |
ORPHA:70589 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Asbestos Intoxication |
|
Right ventricular failure, Ground-glass opacification, Mediastinal lymphadenopathy, Atelectasis, ... |
ORPHA:2302 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Dysphagia, Lower lim... |
ORPHA:1177 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Epistaxis, Anorexia, Abnormal pleura morphology, M... |
ORPHA:3099 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Attention deficit hyperactivity disorder, Pallor, Anorexia |
OMIM:500007 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, Dysphagi... |
OMIM:609286 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion |
OMIM:614702 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Groun... |
ORPHA:99931 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Dyspha... |
OMIM:160900 |
American Trypanosomiasis |
|
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath... |
ORPHA:3386 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... |
OMIM:613327 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Joint contracture of the 5th finger, Bradycardia, Atrioventricular block |
OMIM:614407 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Pericardial effusion, Thrombocytopenia, Prolonged QTc interval, Anemia |
ORPHA:231111 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Repetitive compulsive behavior, Muscular ventricular septal defect, Dilate... |
ORPHA:66634 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hy... |
OMIM:255160 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Erythema, Flexion contracture, Bradycardia, Camptodactyly, Neon... |
OMIM:610015 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... |
ORPHA:40366 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Hyperactivity, Facial hypotonia, First degree atrioventricular block, Abnorm... |
ORPHA:589821 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Gitelman Syndrome |
|
Prolonged QT interval, Neoplasm of the pancreas, Salt craving, Raynaud phenomenon, Pericardial ef... |
ORPHA:358 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Congestive heart failure, Splenomegaly, Pallor, ... |
ORPHA:163596 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Agitation, Palpitations, Pallor, Polyphagia |
ORPHA:324575 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Dysphagia, Weaknes... |
ORPHA:329336 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Agitation, Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular blo... |
OMIM:530000 |
Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... |
ORPHA:70588 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Abno... |
ORPHA:2357 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Acute rhabdomyolysis, Oral-pharyngeal dysphagia, Rhabdomyolysis, Ventricular tach... |
OMIM:616878 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia, Death in infancy |
OMIM:616299 |
C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... |
OMIM:620321 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... |
OMIM:618775 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dy... |
ORPHA:273 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Rett Syndrome |
|
Skeletal muscle atrophy, Bruxism, Abnormal T-wave, Prolonged QTc interval, Stereotypical hand wri... |
OMIM:312750 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Bradycardia, ... |
OMIM:617397 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... |
OMIM:619167 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy |
OMIM:617184 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy, Hep... |
ORPHA:71212 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Acute rhabdomyolysis, EMG: myopathic abnormalities, Dysphagi... |
ORPHA:480864 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... |
OMIM:232300 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Dilated cardiomyopathy, Bradycardia, Dry skin |
OMIM:610768 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95717 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Joint contracture, Bradycardia, Limb hypertonia |
OMIM:614498 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure, Redundant skin |
OMIM:301021 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoplasia of the musculatu... |
ORPHA:231226 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... |
ORPHA:268 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, An... |
ORPHA:824 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Atrophoderma Vermiculata |
|
Heart block, Erythema |
ORPHA:79100 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropeni... |
ORPHA:391673 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor, Anorexia |
ORPHA:79283 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Howell-Jolly bodies, Abnormal cardiac ve... |
ORPHA:85443 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Rhabdomyolysis, Ventricular tachycardia, Palpitations, Hypot... |
OMIM:263800 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Aspiration pneumonia, Hep... |
ORPHA:581 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Thrombocytopenia, Death in adolescence, Stillbirth, Dysphagia, Neonatal... |
OMIM:619751 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary arterial hyp... |
OMIM:619003 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Left ventricular outfl... |
ORPHA:308552 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Ground-glass opacification, Mediastinal lymphadenopathy, L... |
OMIM:620233 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Dry skin, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis |
ORPHA:94090 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung loba... |
ORPHA:1666 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Hypoplasia of the musculatu... |
ORPHA:231214 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Syncope, Palpitations,... |
OMIM:170390 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron... |
ORPHA:90033 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contracture, Cardiomyop... |
ORPHA:258 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I... |
ORPHA:79102 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Ground-glass opacification, Atelecta... |
OMIM:610978 |
Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Fulminant hepatitis, Leukocytosis, Atelectasis, Subconjunctival hemorrhage, L... |
ORPHA:319213 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Spasticity of facial muscles, Pallor, Dysphagia |
OMIM:606353 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, ... |
OMIM:300352 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ... |
ORPHA:185 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
Absence Of The Pulmonary Artery |
|
Abnormal pulmonary thoracic imaging finding, Cardiomegaly, Atrial septal defect, Patent foramen o... |
ORPHA:980 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Flexion contracture, Attention deficit hyperactivity disorder, Dysphagia, ... |
OMIM:620029 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... |
ORPHA:3260 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia, Dysphagia |
ORPHA:3299 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Anorexia, Abnormality of... |
ORPHA:33226 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecc... |
ORPHA:99827 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate mor... |
OMIM:620294 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Neutropenia, Jaundice, A... |
ORPHA:90051 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Hypert... |
OMIM:614653 |
Refsum Disease |
|
Skeletal muscle atrophy, Heart block, Splenomegaly, Cardiomyopathy, Dry skin |
ORPHA:773 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Death in infancy, Hepatomegaly, Ventricular septal de... |
ORPHA:373 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:95716 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Hypopl... |
OMIM:601186 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive... |
ORPHA:2131 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy |
OMIM:619272 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... |
ORPHA:507 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... |
OMIM:613870 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Respiratory tract infection, Abnormal heart morphology, Telangiectasi... |
ORPHA:93400 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Pulmonic stenosis, Aggressive behavior |
ORPHA:529962 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Rhabdomyolysis, Dry skin, ST segment depression, Hypotension, Abnormal T-w... |
ORPHA:466650 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Jaundice, Rhabdomyolys... |
ORPHA:509 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Cardiac arrest, Anorexia, Leukocytosis, Dilated cardiomyopathy,... |
ORPHA:20 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dysphagia, Erythema,... |
ORPHA:449285 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... |
ORPHA:98849 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, Myopathy, Neonatal death |
OMIM:300219 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Accessory spleen, Redundant skin, Morgagni... |
OMIM:613177 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Agitation, Pallor, Pancreatic islet-cell hyperplasia, Increased hepati... |
ORPHA:263455 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... |
OMIM:151100 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Atelectasis, Camptodactyly of finger |
ORPHA:896 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Rhabdomyolysis, Hypertension, Ag... |
ORPHA:94093 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis |
ORPHA:94089 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... |
ORPHA:86839 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Congenital foot contractures, Limb hypertonia |
ORPHA:565624 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Recurrent respiratory infections, Flexion contracture, Sinus bradycardia, Congenital contracture,... |
OMIM:618397 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Polyphagia |
ORPHA:79444 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Aggressive behavior, Flexion contracture, Head-banging, Intr... |
ORPHA:86309 |
D-Glyceric Aciduria |
|
Tongue thrusting, Bradycardia |
OMIM:220120 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Abnormality of the ly... |
ORPHA:538 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory i... |
OMIM:618278 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Zygomycosis |
|
Acute infectious pneumonia, Air crescent sign, Neutropenia, Mediastinal lymphadenopathy, Atelecta... |
ORPHA:73263 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Tularemia |
|
Tachycardia, Abnormal pulmonary thoracic imaging finding, Pneumonia, Abnormal nasopharyngeal aden... |
ORPHA:3392 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Thrombocytosis, Anorexia, Leukocytosis, Hypertension, Agitation, Pallor, Hypotensio... |
ORPHA:134 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Leukocyto... |
ORPHA:2902 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Calcinosis, Polyphagia |
ORPHA:79443 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
Marburg Hemorrhagic Fever |
|
Anorexia, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Reticulocytosis, Hypov... |
ORPHA:99826 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Muscle hypertrophy of the lower extrem... |
ORPHA:1772 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Bradycardia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice,... |
ORPHA:90674 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Pallor, Bone marrow hypocellularity, Neutropenia, Atrial septal defect... |
OMIM:609053 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contrac... |
ORPHA:97297 |
Encephalitis Lethargica |
|
Upper limb muscle weakness, Bradycardia |
ORPHA:83600 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ventricula... |
ORPHA:335 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Pericarditis, Myocarditis, Atelectasis, Erythema, Hepatitis, Lar... |
ORPHA:728 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Farber Disease |
|
Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulm... |
ORPHA:333 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication |
OMIM:259900 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... |
OMIM:600462 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Tachycardia, Hyperactivity, Abnormal heart morphology, Abnormal intrahepatic bile du... |
ORPHA:485405 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Hepatomegaly, Miscarriage, Aggressive behavior, Myocarditis, Congesti... |
ORPHA:3385 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduced left ventricular ejection fra... |
ORPHA:542323 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Congenital diaphragmatic hernia, Cutis laxa, Bradycardia, Pulmonary ... |
OMIM:614437 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Atelectasis, Periportal fibrosis, Pulmonar... |
OMIM:269860 |
Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Recurrent respiratory infections, Eosinophilia, Anorexia, ... |
ORPHA:90045 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... |
ORPHA:500 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Hepatic steatosis, Pallor |
ORPHA:348 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Myopathy, Hy... |
OMIM:185070 |
High Altitude Pulmonary Edema |
|
Tachycardia, Anorexia, Leukocytosis, Pulmonary opacity, Pulmonary edema |
ORPHA:330012 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:90673 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Jaundice, Dysphagia, Bradycardia, Neutropenia, Neonatal death |
OMIM:617248 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Anemia, Death in infancy |
OMIM:618839 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Pallor,... |
ORPHA:98870 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Dravet Syndrome |
|
Obsessive-compulsive trait, Pallor, Impulsivity |
ORPHA:33069 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Anemia |
OMIM:618835 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Biliary cirrhosis, Hypertens... |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Biliary cirrhosis, Hypertens... |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Biliary cirrhosis, Hypertens... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Biliary cirrhosis, Hypertens... |
ORPHA:99226 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitation |
OMIM:261990 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Abnormal myocardi... |
ORPHA:228308 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Abno... |
ORPHA:567 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Acromesomelic Dysplasia 4 |
|
Third degree atrioventricular block |
OMIM:619636 |
Autosomal Dominant Hyper-Ige Syndrome |
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Recurrent respiratory infections, Eosinophilia, Atelectasis, Skin ulcer, Skin vesicle |
ORPHA:2314 |
Whim Syndrome |
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Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper respiratory t... |
ORPHA:51636 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Tachycardia, Pancytopenia, Aggressive behavior, Dilated cardiomyopathy, Erythema, Death in childh... |
OMIM:618321 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Letterer-Siwe Disease |
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Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pulmonary infiltrates, Pallor, Neutropenia, Anemia |
OMIM:246400 |
Scorpion Envenomation |
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Bundle branch block, Tachycardia, Restlessness, Acute pancreatitis, Pulmonary edema, Cardiac cond... |
ORPHA:466677 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Carney Triad |
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Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Leiomyosarcoma, ... |
ORPHA:139411 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Recurrent respiratory infections, Abnormal pulmonary valve morphology, Splenomegaly... |
ORPHA:667 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Tachycardia, Rhabdomyolysis, Palpitations |
OMIM:188580 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Intrahe... |
OMIM:614921 |
Pearson Syndrome |
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Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Cardiac conduction abnormality,... |
ORPHA:699 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Restlessness, Agitation, Pallor, Dysphagia |
ORPHA:13 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Pneumonia, Respiratory tract infection, Myocarditis, Leukocytosis, Thrombocytop... |
ORPHA:544482 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
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Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hepatomegaly, Pallor, Anemia, Death in childhood |
OMIM:246450 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Myotonic Dystrophy 2 |
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Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali... |
OMIM:602668 |
Degcags Syndrome |
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Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Pallor, Atrial septal defect, Diap... |
OMIM:619488 |
Truncus Arteriosus |
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Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... |
ORPHA:3384 |
Retinitis Pigmentosa 51 |
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Pallor |
OMIM:613464 |
Recessive Mitochondrial Ataxia Syndrome |
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ST segment elevation, Dysphagia |
ORPHA:94125 |
Mirage Syndrome |
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Thrombocytopenia, Hypoplastic spleen, Intracranial hemorrhage, Leukopenia, Anemia, Aspiration pne... |
OMIM:617053 |
Plummer-Vinson Syndrome |
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Geophagia, Hypochromic microcytic anemia, Iron deficiency anemia, Pallor, Dysphagia |
ORPHA:54028 |
Graft Versus Host Disease |
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Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myositis, Pneumonia, Jaundice, Hepat... |
ORPHA:39812 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Macroglossia, Dry skin, Bradycardia |
OMIM:218700 |
Multiple Endocrine Neoplasia Type 2 |
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Cervical lymphadenopathy, Proximal amyotrophy, Neoplasm of the lung, Neoplasm of the liver, Pallo... |
ORPHA:653 |
Hydroxykynureninuria |
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Tachycardia, Dry skin, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Torticollis, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Mitral valve prol... |
ORPHA:536467 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Meacham Syndrome |
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Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... |
OMIM:608978 |
Friedreich Ataxia 2 |
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Abnormal EKG, Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Conge... |
OMIM:601992 |
Panhypophysitis |
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Orthostatic hypotension, Polydipsia, Pallor, Normochromic anemia |
ORPHA:95513 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Eisenmenger Syndrome |
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Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... |
ORPHA:97214 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Pneumonia, Pneumothorax, Dilated cardiomyopathy, Bradycardia, Anemia |
ORPHA:79404 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Shortened QT interval, Dysphagia, Polydipsia, Pancreatitis |
ORPHA:99880 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Tachycardia, Rhabdomyolysis, Hypotension |
OMIM:145600 |
Esophageal Atresia |
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Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Pallor, Pulmonary hypopl... |
ORPHA:1199 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... |
OMIM:300908 |
Stiff-Person Syndrome |
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Tachycardia, Anemia, Hypertension, Proximal limb muscle stiffness, Asymmetric limb muscle stiffne... |
OMIM:184850 |
Pituitary Apoplexy |
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Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Shortened QT interval, Dysphagia, Polydipsia, Pancreatitis |
ORPHA:143 |
Yellow Fever |
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Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, ... |
ORPHA:99829 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Pallor, Bone marrow hypoc... |
ORPHA:101096 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Atelectasis, Recurrent pneumonia, Lymph... |
OMIM:306400 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Death in infancy, Ground-glass opacification, Desquamative interstitial pneumonitis, Intraalveola... |
OMIM:265120 |
Non-Functioning Pituitary Adenoma |
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Anemia of inadequate production, Pallor, Hypotension |
ORPHA:91349 |
Pearson Marrow-Pancreas Syndrome |
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Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Anorexia, Thrombocytopenia... |
OMIM:557000 |
Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope, Anemia |
ORPHA:230 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Primary Hyperoxaluria |
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Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication |
ORPHA:416 |
Adenohypophysitis |
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Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95512 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, T... |
ORPHA:124 |
Elliptocytosis 1 |
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Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Fumarase Deficiency |
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Intrahepatic cholestasis, Perimembranous ventricular septal defect, Polycythemia, Pallor |
OMIM:606812 |
Anemia, Sideroblastic, 1 |
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Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Fanconi Anemia, Complementation Group E |
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Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neut... |
OMIM:600901 |
Irida Syndrome |
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Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
Fanconi Anemia, Complementation Group C |
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Pancytopenia, Ventricular septal defect, Anemic pallor, Thrombocytopenia, Flexion contracture, Re... |
OMIM:227645 |
Myopathy, Mitochondrial, And Ataxia |
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Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor |
OMIM:617675 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Kcnq2-Related Epileptic Encephalopathy |
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Pallor, Facial erythema |
ORPHA:439218 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Sinus bradycardia, Aspiration pneumonia, Dysphagia, Achalasia, Ineffective esophageal peristalsis |
OMIM:619482 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
Fanconi Anemia, Complementation Group A |
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Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neut... |
OMIM:227650 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Macroglossia, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226307 |
Goodpasture Syndrome |
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Nodular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary infiltrates, Pallor, Par... |
OMIM:233450 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Childhood Absence Epilepsy |
|
Punding, Pallor, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:175 |
Digeorge Syndrome |
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Ventricular septal defect, Thrombocytopenia, Splenomegaly, Atelectasis, Recurrent pneumonia, Abno... |
OMIM:188400 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Pallor, Intrahepatic bile duct dilatation |
OMIM:616307 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Recurrent respiratory infections, Atelectasis, Skin ulcer, Anemia, Self-injurio... |
ORPHA:534 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Miscarriage, Reticulocytosis, Anisocytosis, Jau... |
ORPHA:71275 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Bone... |
OMIM:227646 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Anemia |
ORPHA:329971 |
Sarcoidosis |
|
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Leukopeni... |
ORPHA:797 |
Multiple Endocrine Neoplasia Type 1 |
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Neoplasm of the pancreas, Anorexia, Shortened QT interval, Hematemesis, Insulinoma, Thymoma, Mele... |
ORPHA:652 |
Plague |
|
Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Lymphadenitis, Splenomegaly, Endocarditis, Skin... |
ORPHA:707 |
Hamamy Syndrome |
|
Prolonged QRS complex, Microcytic anemia, Complete atrioventricular canal defect, Mitral regurgit... |
OMIM:611174 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Gracile Bone Dysplasia |
|
Asplenia, Death in infancy, Hypoplastic spleen |
OMIM:602361 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Mirizzi Syndrome |
|
Tachycardia, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal d... |
ORPHA:521219 |
Chand Syndrome |
|
Atelectasis, Dry skin |
ORPHA:1401 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... |
ORPHA:391665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Scaling skin |
ORPHA:3464 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave |
OMIM:241080 |