| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Lipedema |
|
Edema |
OMIM:614103 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
ORPHA:3283 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia |
OMIM:107970 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Hyperke... |
OMIM:300918 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Syncope, Ventricular tachycardia |
ORPHA:3286 |
| Angioedema, Hereditary, 6 |
|
Edema of the dorsum of hands, Facial edema, Angioedema |
OMIM:619363 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... |
OMIM:611528 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Cardiomyopathy, Dilated, 1P |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia |
OMIM:609909 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Ventricular tachycardia, Syncope, Cardiac arrest |
OMIM:614916 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602086 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1O |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia |
OMIM:608569 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
| Incessant Infant Ventricular Tachycardia |
|
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... |
ORPHA:45453 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Folliculitis, Ectropion, Palmoplantar keratoderma, Scarring alopecia of scalp, ... |
OMIM:308800 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death |
OMIM:612124 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Blepharitis, A... |
ORPHA:2045 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Atrial Fibrillation, Familial, 1 |
|
Tachycardia, Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 3 |
|
Tachycardia, Atrial fibrillation |
OMIM:607554 |
| Brugada Syndrome 1 |
|
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... |
OMIM:601144 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block |
OMIM:192605 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:612098 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Cardiomyopathy, Dilated, 1G |
|
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... |
OMIM:604145 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... |
OMIM:615441 |
| Cardiomyopathy, Dilated, 1B |
|
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... |
OMIM:600884 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis, Hyperkeratosis |
ORPHA:254478 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Cardiomyopathy, Dilated, 1E |
|
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... |
OMIM:601154 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Folliculitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Keratitis, ... |
OMIM:612843 |
| Long Qt Syndrome 3 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:603830 |
| Long Qt Syndrome 2 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613688 |
| Long Qt Syndrome 6 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613693 |
| Long Qt Syndrome 5 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation |
OMIM:613695 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
| Isolated Trigonocephaly |
|
Omphalocele, Synophrys |
ORPHA:3366 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:220400 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... |
OMIM:618920 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| Atrial Standstill 1 |
|
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... |
OMIM:108770 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation |
OMIM:611878 |
| Long Qt Syndrome 1 |
|
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... |
OMIM:192500 |
| Wolff-Parkinson-White Syndrome |
|
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... |
OMIM:194200 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... |
OMIM:115000 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Blepharitis, Plantar hyperkerat... |
OMIM:604173 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele, Epicanthus |
ORPHA:1906 |
| Angioedema, Hereditary, 5 |
|
Edema of the dorsum of hands, Facial edema, Angioedema |
OMIM:619361 |
| Long Qt Syndrome 12 |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Bundle branch block |
OMIM:615616 |
| Omphalocele, Autosomal |
|
Omphalocele, Inguinal hernia |
OMIM:164750 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia |
OMIM:615916 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... |
OMIM:614954 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, ST segment elevation, Right bundle branch block |
OMIM:613123 |
| Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Loss of eyelashes, B... |
ORPHA:163934 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse and thin eyebrow, Blepharitis, Hyperkeratosis |
OMIM:602400 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... |
OMIM:613838 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... |
OMIM:608758 |
| Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... |
OMIM:611875 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval |
OMIM:612347 |
| Angioedema, Hereditary, 8 |
|
Edema of the dorsum of hands, Laryngeal edema, Facial edema, Angioedema |
OMIM:619367 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse eyelashes, Blepharitis |
OMIM:618535 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction |
OMIM:604401 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia |
OMIM:601493 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... |
ORPHA:45452 |
| Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia |
OMIM:614896 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia |
OMIM:613424 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Glaucoma 3, Primary Congenital, E |
|
Ocular hypertension |
OMIM:617272 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... |
ORPHA:99105 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy |
OMIM:613873 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... |
ORPHA:1344 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Miller-Dieker Syndrome |
|
Omphalocele, Epicanthus |
ORPHA:531 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... |
OMIM:115200 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Glaucoma 1, Open Angle, F |
|
Ocular hypertension |
OMIM:603383 |
| Trigonocephaly 1 |
|
Omphalocele, Synophrys |
OMIM:190440 |
| Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormality of venous ph... |
ORPHA:90064 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Sick Sinus Syndrome 1 |
|
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... |
OMIM:608567 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Brugada Syndrome 2 |
|
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
OMIM:236800 |
| Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... |
ORPHA:300751 |
| Clouston Syndrome |
|
Sparse eyelashes, Palmoplantar hyperkeratosis, Sparse and thin eyebrow, Blepharitis, Conjunctivitis |
OMIM:129500 |
| Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Posterior blepharitis, Angular cheilitis, Keratitis |
OMIM:619016 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... |
OMIM:614022 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... |
OMIM:612158 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... |
OMIM:600858 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Atrial Fibrillation, Familial, 4 |
|
Atrial fibrillation, Palpitations, Permanent atrial fibrillation, Premature atrial contractions, ... |
OMIM:611493 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Brugada Syndrome 9 |
|
Palpitations, Presyncope, ST segment elevation |
OMIM:616399 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Pustule |
OMIM:614328 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... |
OMIM:140400 |
| Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Distal Trisomy 15Q |
|
Omphalocele, Ptosis, Downslanted palpebral fissures, Camptodactyly of finger, Blepharophimosis |
ORPHA:1707 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... |
OMIM:616247 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Umbilical hernia, Ptosis, Inguinal hernia |
ORPHA:1373 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Eyelid coloboma, Nasolacrimal duct obstruction |
OMIM:248450 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Familial Dilated Cardiomyopathy |
|
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... |
ORPHA:217607 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... |
OMIM:600996 |
| Romano-Ward Syndrome |
|
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... |
ORPHA:101016 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:609040 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... |
OMIM:604169 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Ankyloblepharon, Palmoplantar keratoderma, Absent eyelashes, Lacrimal duct atre... |
OMIM:106260 |
| Leukonychia Totalis |
|
Blepharitis, Abnormal eyelash morphology |
ORPHA:2387 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fi... |
OMIM:145420 |
| Microphthalmia, Isolated 6 |
|
Ocular hypertension |
OMIM:613517 |
| Sea-Blue Histiocytosis |
|
Blepharitis |
ORPHA:158029 |
| Short Qt Syndrome 1 |
|
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... |
OMIM:609620 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... |
OMIM:608751 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Polyhydramnios, Pleural effusion, Generalized edema |
OMIM:618773 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Telangiectasia of the skin |
ORPHA:542592 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... |
OMIM:613243 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Familial Progressive Cardiac Conduction Defect |
|
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia |
ORPHA:871 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Chronic otitis media, Long eyelashes, Epicanthus, Blepharitis, Congenital ... |
ORPHA:261279 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, ST segment elevation, Bundle branch block |
OMIM:612838 |
| Kid Syndrome |
|
Sparse eyelashes, Palmoplantar keratoderma, Acne inversa, Conjunctivitis, Folliculitis, Recurrent... |
ORPHA:477 |
| Coronary Arterial Fistula |
|
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... |
ORPHA:2041 |
| Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block |
OMIM:618782 |
| Naxos Disease |
|
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... |
ORPHA:34217 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure |
OMIM:605676 |
| Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... |
ORPHA:563 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Downslanted palpebral fissures, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:2143 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Ocular hypertension |
OMIM:602499 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Juvenile Xanthogranuloma |
|
Uveitis, Blepharitis, Iritis |
ORPHA:158000 |
| Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Blepharitis, Conjunc... |
ORPHA:37 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Tachycardia |
OMIM:613239 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Long eyelashes, Camptodactyly |
OMIM:618529 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricular... |
OMIM:615373 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Arrhythmia, Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... |
ORPHA:263297 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation |
ORPHA:104 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Pneumonia |
OMIM:266265 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Telecanthus, Upslanted palpebral fissure, Epicanthus |
OMIM:601927 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation |
ORPHA:90647 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171420 |
| Ebstein Anomaly |
|
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... |
OMIM:224700 |
| Tako-Tsubo Cardiomyopathy |
|
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... |
ORPHA:66529 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Epicanthus, Telecanthus, Flexion contracture |
OMIM:263210 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
| Acquired Methemoglobinemia |
|
Palpitations, Syncope, Arrhythmia, Tachycardia |
ORPHA:464453 |
| Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Ptosis, Telecanthus, Epicanthus, Knee flexion contracture, Short pa... |
OMIM:277720 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Microcoria, Congenital |
|
Ocular hypertension |
OMIM:156600 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Eczema, Thin eyebrow, Episcleritis, Cheilitis, Abnormal eyelash morphology, Abnormal... |
ORPHA:2273 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... |
OMIM:163800 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Acalvaria |
|
Omphalocele |
ORPHA:945 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular hypertension |
OMIM:610023 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... |
ORPHA:99103 |
| Paragangliomas 3 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:605373 |
| Chromosome 9P Deletion Syndrome |
|
Omphalocele, Narrow palpebral fissure, Highly arched eyebrow, Upslanted palpebral fissure, Epican... |
OMIM:158170 |
| Sudden Cardiac Failure, Infantile |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis |
OMIM:617222 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Narrow palpebral fissure, Epicanthus, Inguinal hernia, Wrist flexion contracture, Di... |
ORPHA:254528 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Pustule, Chapped lip, Horizontal eyebrow, Recurrent bacterial skin infec... |
ORPHA:294023 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Short palpebral fissure, Diastasis recti, Flexion contracture, Blepharophimosis, Ing... |
OMIM:608149 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Syncope, Tachycardia |
ORPHA:324575 |
| Glaucoma 3, Primary Congenital, A |
|
Ocular hypertension |
OMIM:231300 |
| Irvan Syndrome |
|
Ocular hypertension |
ORPHA:209943 |
| Eec Syndrome |
|
Abnormal dental enamel morphology, Keratitis, Thick eyebrow, Inflammatory abnormality of the eye,... |
ORPHA:1896 |
| Lacrimal Duct Defect |
|
Sinusitis, Dacryocystocele, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis |
OMIM:149700 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
| Kennerknecht Syndrome |
|
Omphalocele, Long eyelashes |
OMIM:600908 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation |
OMIM:300952 |
| Atrial Fibrillation, Familial, 7 |
|
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval |
OMIM:612240 |
| D-Lactic Aciduria With Gout |
|
Downslanted palpebral fissures, Inguinal hernia |
OMIM:245450 |
| Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... |
ORPHA:1329 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Upslanted palpebral fissure |
ORPHA:3035 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... |
ORPHA:449285 |
| Xeroderma Pigmentosum |
|
Ectropion, Ankyloblepharon, Conjunctival telangiectasia, Keratitis, Pterygium, Hyperkeratosis, Bl... |
ORPHA:910 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Syncope, Tachycardia |
OMIM:615821 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis |
OMIM:612692 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele |
OMIM:614450 |
| Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly |
|
Premature ventricular contraction |
OMIM:133750 |
| Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Ectropion, Conjunctivitis |
ORPHA:411777 |
| Moebius Syndrome |
|
Blepharitis, Epicanthus, Arthrogryposis multiplex congenita, Ptosis |
ORPHA:570 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Lymphedema |
OMIM:617300 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:601163 |
| Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Highly arched eyebrow, Upslanted palpebral fissure, Neonatal death, Sparse eyebrow, ... |
OMIM:619124 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Hydrocephalus With Associated Malformations |
|
Omphalocele |
OMIM:236640 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Downslanted palpebral fissures, Umbilical hernia, Congenital diaphragmatic hernia |
OMIM:222448 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele |
ORPHA:93267 |
| Weill-Marchesani Syndrome 4 |
|
Ocular hypertension |
OMIM:613195 |
| Paragangliomas 1 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:168000 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia |
OMIM:613426 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Omphalocele, Diastasis recti, Sparse eyebrow, Highly arched eyebrow |
OMIM:618419 |
| Neovascular Glaucoma |
|
Ocular hypertension |
ORPHA:94058 |
| Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Glaucoma, Primary Closed-Angle |
|
Ocular hypertension |
OMIM:618880 |
| Constricting Bands, Congenital |
|
Bladder exstrophy, Omphalocele, Gastroschisis, Eyelid coloboma |
OMIM:217100 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Chronic pulmonary obstruction, Neutropenia, Leukopenia, Partial absence of spe... |
OMIM:618986 |
| Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Absent lacrimal punctum, Sparse eyebrow, Lacrimal duct atresia, Chronic ... |
ORPHA:69085 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
| Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly |
ORPHA:98848 |
| Myopathy, Myofibrillar, 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... |
OMIM:601419 |
| Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Spontaneous, recurre... |
OMIM:214500 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Scarring, Ectropion, Scarring alopecia of scalp, Recurrent bacterial ski... |
ORPHA:95159 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... |
OMIM:613470 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Sparse lateral eyebrow, Telecanthus, Downslanted palpebral fissures, Abnormal eyelas... |
ORPHA:3164 |
| Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction |
|
Lacrimal duct stenosis, Umbilical hernia, Inguinal hernia |
OMIM:601351 |
| Myotonic Dystrophy 2 |
|
Palpitations, Tachycardia |
OMIM:602668 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure |
ORPHA:1055 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyelashes, Dacryocystitis, Telecanthus, Hyperkeratosis, Sparse and thin eyebrow, Blepharit... |
OMIM:129900 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak |
ORPHA:542323 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia, Interface hepatitis, Psoriasiform dermatitis |
OMIM:243150 |
| Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63862 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... |
ORPHA:860 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Edema, Polyhydramnios, Facial edema, Lymphedema |
OMIM:618154 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Popliteal pterygium |
ORPHA:3329 |
| Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... |
ORPHA:906 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inferiorly positioned umbilicus, Popliteal pterygium, Ectropion, Upslanted palpebral... |
OMIM:263650 |
| Andersen-Tawil Syndrome |
|
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... |
ORPHA:37553 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Recurrent ... |
OMIM:618935 |
| Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Omphalocele, Congenital diaphragmatic hernia |
ORPHA:1834 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Atrial Standstill 2 |
|
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... |
OMIM:615745 |
| 3Mc Syndrome 1 |
|
Omphalocele, Highly arched eyebrow, Ptosis, Abnormality of the abdominal wall, Conjunctival telan... |
OMIM:257920 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Arthritis, Otitis media, Purulent rhinitis, Conjunctivitis |
OMIM:601457 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Flexion contracture of toe, Upslanted palpebral fissure, Epicanth... |
ORPHA:280633 |
| Tetanus |
|
Hypertension, Bradycardia, Tachycardia |
ORPHA:3299 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly |
OMIM:601389 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Recurrent aspiration pneumonia, Upslanted palpebral fissure, Abnormality of the abdo... |
OMIM:247200 |
| Bladder Exstrophy |
|
Bladder exstrophy, Omphalocele, Umbilical hernia, Inguinal hernia |
ORPHA:93930 |
| Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Gas... |
ORPHA:98850 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Umbilical hernia |
ORPHA:254534 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyelashes, Dacryocystitis, Hyperkeratosis, Sparse and thin eyebrow, Blepharitis, Blepharop... |
OMIM:604292 |
| Carpenter Syndrome 1 |
|
Omphalocele, Telecanthus, Joint contracture of the hand, Epicanthus, Camptodactyly, Umbilical hernia |
OMIM:201000 |
| Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171300 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Ectropion, Recurrent otitis media, Downslanted palpebral fissures, Long palpebral... |
OMIM:602562 |
| Weill-Marchesani Syndrome 3 |
|
Ocular hypertension |
OMIM:614819 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Histiocytoid Cardiomyopathy |
|
Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventricular tachycardi... |
ORPHA:137675 |
| Fibrochondrogenesis |
|
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger |
ORPHA:2021 |
| Dyskeratosis Congenita |
|
Palmoplantar keratoderma, Abnormal eyebrow morphology, Periodontitis, Blepharitis, Abnormal eyela... |
ORPHA:1775 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Abnormality of the orbital region, Arthritis, Pterygium |
ORPHA:371428 |
| C Syndrome |
|
Omphalocele, Epicanthus, Upslanted palpebral fissure |
OMIM:211750 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Birdshot Chorioretinopathy |
|
Ocular hypertension |
ORPHA:179 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele |
OMIM:601357 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Conjunctivitis |
OMIM:603165 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Caudal Duplication |
|
Omphalocele |
ORPHA:1756 |
| Mastocytosis |
|
Respiratory insufficiency, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Cough, S... |
ORPHA:98292 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Pneumonia, Bronchiectasis, Recurrent otitis media, Crohn's disease, Recurrent pneumoni... |
OMIM:601495 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, T... |
ORPHA:26793 |
| Otopalatodigital Syndrome, Type I |
|
Omphalocele, Downslanted palpebral fissures |
OMIM:311300 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hypertension, Congestive heart failure, Wolff-Parkinson-White syndrome, Abnormal left ventricular... |
OMIM:540000 |
| Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Scarring, Ectropion, Scarring alopecia of scalp, Recurrent bacterial ski... |
ORPHA:79277 |
| Isolated Congenital Alacrima |
|
Ptosis, Lacrimal punctal atresia, Keratitis, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis |
ORPHA:91416 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure |
ORPHA:49827 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Epicanthus, Upslanted palpebral fissure |
OMIM:200995 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... |
ORPHA:75565 |
| Mosaic Trisomy 1 |
|
Omphalocele, Congenital diaphragmatic hernia, Congenital bilateral ptosis, Downslanted palpebral ... |
ORPHA:1692 |
| Trisomy 1Q |
|
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis |
OMIM:613493 |
| Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Ptosis |
ORPHA:1069 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... |
OMIM:115197 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
| Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... |
OMIM:615344 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Cardiorespiratory arrest |
ORPHA:280785 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... |
ORPHA:216694 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Syncope, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chroni... |
ORPHA:98849 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... |
ORPHA:167 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Epicanthus, Arthritis, Osteomyelitis,... |
ORPHA:33110 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Diastasis recti, Blepharophimosis, Inguinal hernia |
ORPHA:254519 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Anterior Segment Dysgenesis 7 |
|
Ocular hypertension |
OMIM:269400 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus syndrome, Arrhythmia |
ORPHA:542306 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele |
OMIM:617895 |
| Marshall-Smith Syndrome |
|
Omphalocele, Recurrent aspiration pneumonia, Synophrys, Thick eyebrow, Umbilical hernia, Shallow ... |
OMIM:602535 |
| Hyperostosis Cranialis Interna |
|
Ocular hypertension |
OMIM:144755 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... |
OMIM:265300 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Upslanted palpebral fissure, Telecanthus, Epicanthus, Long eyelashes, Camptodactyly |
OMIM:616894 |
| Dyskeratosis Congenita, X-Linked |
|
Conjunctivitis, Sparse eyelashes, Blepharitis, Pterygium |
OMIM:305000 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Tachycardia |
OMIM:614653 |
| Congenital Fibrinogen Deficiency |
|
Internal hemorrhage, Tachycardia |
ORPHA:335 |
| Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
| Nasolacrimal Duct Cyst |
|
Narrow palpebral fissure, Dacryocystocele, Dacryocystitis, Nasolacrimal duct obstruction, Chronic... |
ORPHA:141083 |
| Pseudotrisomy 13 Syndrome |
|
Omphalocele, Upslanted palpebral fissure |
OMIM:264480 |
| Relapsing Fever |
|
Epistaxis, Tachycardia, Hypotension |
ORPHA:91547 |
| Cirrhotic Cardiomyopathy |
|
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
| Xeroderma Pigmentosum, Variant Type |
|
Keratitis, Entropion, Ectropion, Conjunctivitis |
OMIM:278750 |
| Trisomy 18 |
|
Omphalocele, Congenital diaphragmatic hernia, Epicanthus, Hernia, Camptodactyly of finger, Blepha... |
ORPHA:3380 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Fibrochondrogenesis 1 |
|
Stillbirth, Omphalocele, Joint contracture of the hand, Camptodactyly |
OMIM:228520 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Absent eyelashes, Camptodactyly of finger, Cryptophthalmos, Umbilica... |
ORPHA:920 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia |
OMIM:613327 |
| Cornelia De Lange Syndrome |
|
Highly arched eyebrow, Ptosis, Congenital diaphragmatic hernia, Curly eyelashes, Long eyelashes, ... |
ORPHA:199 |
| X-Linked Lymphoproliferative Disease |
|
Myocarditis, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dys... |
ORPHA:2442 |
| Holoprosencephaly |
|
Omphalocele, Highly arched eyebrow, Ptosis, Congenital diaphragmatic hernia, Upslanted palpebral ... |
ORPHA:2162 |
| Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Omphalocele, Downslanted palpebral fissures |
OMIM:304120 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Uveitis, Arthritis, Skin rash, Conjunctivitis |
OMIM:120100 |
| Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
| Anterior Segment Dysgenesis 1 |
|
Ocular hypertension |
OMIM:107250 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... |
OMIM:616878 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Recurrent aspiration pneumonia, Umbilical hernia, Ptosis, Congenital diaphragmatic h... |
ORPHA:2745 |
| Malignant Hyperthermia Of Anesthesia |
|
Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... |
ORPHA:423 |
| Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
|
Omphalocele, Ptosis, Upslanted palpebral fissure, Epicanthus, Joint contracture of the hand, Ingu... |
OMIM:218649 |
| Ethylene Glycol Poisoning |
|
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... |
ORPHA:31826 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Neonatal death, Epicanthus, Inguinal hernia |
OMIM:269860 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Umbili... |
ORPHA:1519 |
| Carney Triad |
|
Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia |
ORPHA:139411 |
| Scorpion Envenomation |
|
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Epicanthus... |
OMIM:618820 |
| Triploidy |
|
Omphalocele |
ORPHA:3376 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
| Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
| Paragangliomas 4 |
|
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:115310 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormal dental enamel morphology, Hernia, Inguinal... |
ORPHA:2092 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conj... |
OMIM:607594 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Entropion, Ectropion, Conjunctivitis |
OMIM:278740 |
| Exfoliation Syndrome |
|
Asymmetry of intraocular pressure |
OMIM:177650 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension |
ORPHA:159 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Conjunctivitis |
OMIM:616740 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Heart block |
ORPHA:1964 |
| Muckle-Wells Syndrome |
|
Hernia of the abdominal wall, Episcleritis, Arthritis, Uveitis, Skin rash, Camptodactyly of finge... |
ORPHA:575 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Low intraocular pressure |
OMIM:601552 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger |
ORPHA:90652 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Pulmonary arterial hypertension, Aborted sudden cardiac death, Tachycardi... |
OMIM:614921 |
| Codas Syndrome |
|
Omphalocele, Enamel hypoplasia, Ptosis |
OMIM:600373 |
| Ogden Syndrome |
|
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... |
OMIM:300855 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Epicanthus |
OMIM:182210 |
| Holoprosencephaly 7 |
|
Omphalocele, Upslanted palpebral fissure |
OMIM:610828 |
| Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis |
OMIM:191900 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Psoriasiform dermatitis, Hepatitis, Absent eyebrow, Hashimoto thyroiditis |
ORPHA:436252 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63260 |
| Greenberg Dysplasia |
|
Omphalocele, Neonatal death, Abnormality of the orbital region, Stillbirth |
OMIM:215140 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:233710 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:233700 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Flexion contracture of toe, Epicanthus, Joint contracture of the hand, Camptodactyly |
OMIM:300373 |
| Melnick-Needles Syndrome |
|
Omphalocele |
ORPHA:2484 |
| Vacterl/Vater Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:887 |
| Wild Type Attr Amyloidosis |
|
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele |
OMIM:617022 |
| Absence Of The Pulmonary Artery |
|
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... |
ORPHA:980 |
| Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Ventricular arrhyth... |
ORPHA:97214 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic herni... |
ORPHA:373 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Entropion, Ectropion, Conjunctivitis |
OMIM:278720 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak |
ORPHA:36234 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele |
ORPHA:2736 |
| Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:233690 |
| Cardiac Diverticulum |
|
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... |
ORPHA:1686 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
| Thoracoabdominal Syndrome |
|
Ventral hernia, Omphalocele, Congenital diaphragmatic hernia |
OMIM:313850 |
| Uveal Melanoma |
|
Ocular hypertension |
ORPHA:39044 |
| Neuroleptic Malignant Syndrome |
|
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... |
ORPHA:94093 |
| Alg9-Cdg |
|
Omphalocele, Lipodystrophy, Telecanthus, Shallow orbits |
ORPHA:79328 |
| Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
| Fryns Syndrome |
|
Omphalocele, Narrow palpebral fissure, Aplasia of the left hemidiaphragm, Joint contracture of th... |
OMIM:229850 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Hypertension, Tachycardia |
OMIM:223900 |
| Hemorrhagic Fever-Renal Syndrome |
|
|
