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 |
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Conjunctivitis, Sparse eyelashes, Blepharitis, Pterygium |
OMIM:305000 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Bradycardia, Tachycardia |
OMIM:614653 |
Congenital Fibrinogen Deficiency |
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Internal hemorrhage, Tachycardia |
ORPHA:335 |
Cocaine Intoxication |
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Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
Nasolacrimal Duct Cyst |
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Narrow palpebral fissure, Dacryocystocele, Dacryocystitis, Nasolacrimal duct obstruction, Chronic... |
ORPHA:141083 |
Pseudotrisomy 13 Syndrome |
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Omphalocele, Upslanted palpebral fissure |
OMIM:264480 |
Relapsing Fever |
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Epistaxis, Tachycardia, Hypotension |
ORPHA:91547 |
Cirrhotic Cardiomyopathy |
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Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... |
ORPHA:57777 |
Xeroderma Pigmentosum, Variant Type |
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Keratitis, Entropion, Ectropion, Conjunctivitis |
OMIM:278750 |
Trisomy 18 |
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Omphalocele, Congenital diaphragmatic hernia, Epicanthus, Hernia, Camptodactyly of finger, Blepha... |
ORPHA:3380 |
Fructose-1,6-Bisphosphatase Deficiency |
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Tachycardia |
OMIM:229700 |
Fibrochondrogenesis 1 |
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Stillbirth, Omphalocele, Joint contracture of the hand, Camptodactyly |
OMIM:228520 |
Stiff-Person Syndrome |
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Hypertension, Tachycardia |
OMIM:184850 |
Ablepharon Macrostomia Syndrome |
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Omphalocele, Absent eyebrow, Absent eyelashes, Camptodactyly of finger, Cryptophthalmos, Umbilica... |
ORPHA:920 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Atrial fibrillation, Prolonged QT interval, Tachycardia, Bradycardia |
OMIM:613327 |
Cornelia De Lange Syndrome |
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Highly arched eyebrow, Ptosis, Congenital diaphragmatic hernia, Curly eyelashes, Long eyelashes, ... |
ORPHA:199 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dys... |
ORPHA:2442 |
Holoprosencephaly |
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Omphalocele, Highly arched eyebrow, Ptosis, Congenital diaphragmatic hernia, Upslanted palpebral ... |
ORPHA:2162 |
Otopalatodigital Syndrome, Type Ii |
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Stillbirth, Omphalocele, Downslanted palpebral fissures |
OMIM:304120 |
Familial Cold Autoinflammatory Syndrome 1 |
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Uveitis, Arthritis, Skin rash, Conjunctivitis |
OMIM:120100 |
Double Outlet Right Ventricle |
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Tachycardia, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
Anterior Segment Dysgenesis 1 |
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Ocular hypertension |
OMIM:107250 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Hypertrophic cardiomyopathy, Ventricular tachycardia, Torsade de pointes, Prolonged QTc interval,... |
OMIM:616878 |
Opitz Gbbb Syndrome |
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Omphalocele, Recurrent aspiration pneumonia, Umbilical hernia, Ptosis, Congenital diaphragmatic h... |
ORPHA:2745 |
Malignant Hyperthermia Of Anesthesia |
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Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... |
ORPHA:423 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
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Omphalocele, Ptosis, Upslanted palpebral fissure, Epicanthus, Joint contracture of the hand, Ingu... |
OMIM:218649 |
Ethylene Glycol Poisoning |
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Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... |
ORPHA:31826 |
Tumoral Calcinosis, Normophosphatemic, Familial |
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Conjunctivitis |
OMIM:610455 |
Short-Rib Thoracic Dysplasia 12 |
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Omphalocele, Neonatal death, Epicanthus, Inguinal hernia |
OMIM:269860 |
Porphyria, Acute Intermittent |
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Hypertension, Tachycardia |
OMIM:176000 |
Specc1L-Related Hypertelorism Syndrome |
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Omphalocele, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Umbili... |
ORPHA:1519 |
Carney Triad |
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Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia |
ORPHA:139411 |
Scorpion Envenomation |
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Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... |
ORPHA:466677 |
Genitourinary And/Or Brain Malformation Syndrome |
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Omphalocele, Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Epicanthus... |
OMIM:618820 |
Triploidy |
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Omphalocele |
ORPHA:3376 |
16P12.1P12.3 Triplication Syndrome |
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Tachycardia |
ORPHA:485405 |
Serotonin Syndrome |
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Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Hyperinsulinism Due To Hnf4A Deficiency |
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Tachycardia |
ORPHA:263455 |
Paragangliomas 4 |
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Palpitations, Hypertension associated with pheochromocytoma, Tachycardia |
OMIM:115310 |
Focal Dermal Hypoplasia |
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Omphalocele, Congenital diaphragmatic hernia, Abnormal dental enamel morphology, Hernia, Inguinal... |
ORPHA:2092 |
Immunodeficiency, Common Variable, 1 |
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Pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conj... |
OMIM:607594 |
Xeroderma Pigmentosum, Complementation Group E |
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Keratitis, Entropion, Ectropion, Conjunctivitis |
OMIM:278740 |
Exfoliation Syndrome |
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Asymmetry of intraocular pressure |
OMIM:177650 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension |
ORPHA:159 |
Immunodeficiency 46 |
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Chronic oral candidiasis, Conjunctivitis |
OMIM:616740 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
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Premature ventricular contraction, Heart block |
ORPHA:1964 |
Muckle-Wells Syndrome |
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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 |
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Low intraocular pressure |
OMIM:601552 |
Otopalatodigital Syndrome Type 2 |
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Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger |
ORPHA:90652 |
Congenital Disorder Of Glycosylation, Type It |
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Dilated cardiomyopathy, Pulmonary arterial hypertension, Aborted sudden cardiac death, Tachycardi... |
OMIM:614921 |
Codas Syndrome |
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Omphalocele, Enamel hypoplasia, Ptosis |
OMIM:600373 |
Ogden Syndrome |
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Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... |
OMIM:300855 |
Shprintzen Omphalocele Syndrome |
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Omphalocele, Epicanthus |
OMIM:182210 |
Holoprosencephaly 7 |
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Omphalocele, Upslanted palpebral fissure |
OMIM:610828 |
Muckle-Wells Syndrome |
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Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis |
OMIM:191900 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Omphalocele, Psoriasiform dermatitis, Hepatitis, Absent eyebrow, Hashimoto thyroiditis |
ORPHA:436252 |
Craniorachischisis |
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Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63260 |
Greenberg Dysplasia |
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Omphalocele, Neonatal death, Abnormality of the orbital region, Stillbirth |
OMIM:215140 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:233700 |
Osteopathia Striata With Cranial Sclerosis |
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Omphalocele, Flexion contracture of toe, Epicanthus, Joint contracture of the hand, Camptodactyly |
OMIM:300373 |
Melnick-Needles Syndrome |
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Omphalocele |
ORPHA:2484 |
Vacterl/Vater Association |
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Omphalocele, Congenital diaphragmatic hernia |
ORPHA:887 |
Wild Type Attr Amyloidosis |
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Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... |
ORPHA:330001 |
Lethal Congenital Contracture Syndrome 10 |
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Omphalocele |
OMIM:617022 |
Absence Of The Pulmonary Artery |
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Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... |
ORPHA:980 |
Eisenmenger Syndrome |
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Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Ventricular arrhyth... |
ORPHA:97214 |
Simpson-Golabi-Behmel Syndrome |
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Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic herni... |
ORPHA:373 |
Xeroderma Pigmentosum, Complementation Group C |
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Keratitis, Entropion, Ectropion, Conjunctivitis |
OMIM:278720 |
Bacterial Toxic-Shock Syndrome |
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Myocarditis, Shock, Tachycardia, Hypotension, Capillary leak |
ORPHA:36234 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Omphalocele |
ORPHA:2736 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Splenomegaly, Impaired oxidative burst, Recurrent pneumonia, Rectal abscess, Granulomatosis, Live... |
OMIM:233690 |
Cardiac Diverticulum |
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Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... |
ORPHA:1686 |
Renal Nutcracker Syndrome |
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Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Thoracoabdominal Syndrome |
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Ventral hernia, Omphalocele, Congenital diaphragmatic hernia |
OMIM:313850 |
Uveal Melanoma |
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Ocular hypertension |
ORPHA:39044 |
Neuroleptic Malignant Syndrome |
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Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Arrhythmia, Hypo... |
ORPHA:94093 |
Alg9-Cdg |
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Omphalocele, Lipodystrophy, Telecanthus, Shallow orbits |
ORPHA:79328 |
Porphyria Variegata |
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Hypertension, Tachycardia |
ORPHA:79473 |
Cholera |
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Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Fryns Syndrome |
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Omphalocele, Narrow palpebral fissure, Aplasia of the left hemidiaphragm, Joint contracture of th... |
OMIM:229850 |
Sepsis In Premature Infants |
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Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Orthostatic hypotension, Hypertension, Tachycardia |
OMIM:223900 |
Hemorrhagic Fever-Renal Syndrome |
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