| Lipedema |
|
Edema |
OMIM:614103 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| His Bundle Tachycardia |
|
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
| Cardiomyopathy, Dilated, 2I |
|
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... |
OMIM:620462 |
| Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
| Olmsted Syndrome, X-Linked |
|
Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Posterior blepharitis, Blepharitis, S... |
OMIM:300918 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Ventricular fibrillation, Tachycardia |
OMIM:603829 |
| Brugada Syndrome |
|
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... |
ORPHA:130 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... |
OMIM:614021 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... |
ORPHA:3286 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function |
OMIM:609909 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... |
OMIM:604772 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... |
OMIM:614916 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... |
OMIM:610476 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... |
ORPHA:45453 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... |
OMIM:612124 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia |
OMIM:615770 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Ectropion, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebro... |
OMIM:308800 |
| Cardiomyopathy, Dilated, 1G |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... |
OMIM:604145 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| Flotch Syndrome |
|
Inflammatory abnormality of the eye, Abnormal eyelid morphology, Abnormal eyelash morphology, Spa... |
ORPHA:2045 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... |
OMIM:611528 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... |
OMIM:615441 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Long Qt Syndrome 13 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... |
OMIM:619897 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... |
OMIM:601154 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... |
OMIM:603830 |
| Cardiomyopathy, Dilated, 2F |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... |
OMIM:619747 |
| Lichen Planus Pemphigoides |
|
Blepharitis, Hyperkeratosis, Conjunctivitis |
ORPHA:254478 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Enamel hypoplasia, Blepharitis, Spars... |
OMIM:612843 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... |
OMIM:613693 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... |
OMIM:613688 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... |
OMIM:618920 |
| Non-Syndromic Metopic Craniosynostosis |
|
Synophrys, Omphalocele |
ORPHA:3366 |
| Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... |
OMIM:613251 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
| Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... |
OMIM:108770 |
| Wolff-Parkinson-White Syndrome |
|
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... |
OMIM:194200 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... |
OMIM:115000 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes |
OMIM:220400 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... |
OMIM:613838 |
| Long Qt Syndrome 12 |
|
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes |
OMIM:612955 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
| Fetal Valproate Spectrum Disorder |
|
Epicanthus, Omphalocele |
ORPHA:1906 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... |
OMIM:192500 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... |
ORPHA:3282 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... |
OMIM:612347 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Cardiomyopathy, Dilated, 1Ii |
|
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... |
OMIM:615184 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... |
OMIM:614954 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... |
OMIM:610193 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... |
OMIM:608758 |
| Specific Granule Deficiency 1 |
|
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... |
OMIM:245480 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Brugada Syndrome 3 |
|
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... |
OMIM:611875 |
| Atopic Keratoconjunctivitis |
|
Loss of eyelashes, Abnormal eyelid morphology, Corneal scarring, Blepharitis, Chemosis, Conjuncti... |
ORPHA:163934 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... |
OMIM:601493 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse eyelashes, Blepharitis, Palmoplantar keratoderma, Eczematoid dermatitis |
OMIM:618535 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Cardiomyopathy, Dilated, 1Nn |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... |
OMIM:615916 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... |
ORPHA:45452 |
| Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... |
OMIM:612098 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly eyelashes, Hyperkeratosis, Sparse eyelashes, Blepharitis, Sparse eyebrow |
OMIM:602400 |
| Candidiasis, Familial, 8 |
|
Blepharitis, Cheilitis, Chronic oral candidiasis, Seborrheic dermatitis |
OMIM:615527 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... |
OMIM:613980 |
| Vernal Keratoconjunctivitis |
|
Scarring, Keratoconjunctivitis, Punctate keratitis, Blepharitis, Conjunctival hyperemia, Allergic... |
ORPHA:70476 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... |
OMIM:609040 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block |
OMIM:615616 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... |
ORPHA:99105 |
| Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... |
OMIM:115200 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Miller-Dieker Syndrome |
|
Epicanthus, Omphalocele |
ORPHA:531 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro... |
OMIM:613690 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death |
OMIM:620231 |
| Glaucoma 1, Open Angle, F |
|
Ocular hypertension |
OMIM:603383 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
| Brugada Syndrome 2 |
|
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... |
OMIM:611777 |
| Trigonocephaly 1 |
|
Upslanted palpebral fissure, Epicanthus, Synophrys, Omphalocele |
OMIM:190440 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... |
ORPHA:168796 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
| Acute Peripheral Arterial Occlusion |
|
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v... |
ORPHA:90064 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Long Qt Syndrome 14 |
|
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... |
OMIM:616247 |
| Optic Atrophy 16 |
|
Paroxysmal tachycardia |
OMIM:620629 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Skin rash, Hyperkeratosis, Sparse lateral eyebrow, Blepharitis, Sparse ey... |
OMIM:604173 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... |
OMIM:613873 |
| Clouston Syndrome |
|
Sparse eyelashes, Blepharitis, Sparse eyebrow, Conjunctivitis, Palmoplantar hyperkeratosis |
OMIM:129500 |
| Ifap Syndrome 2 |
|
Angular cheilitis, Posterior blepharitis, Keratitis, Keratoconjunctivitis sicca |
OMIM:619016 |
| Cardiomyopathy, Dilated, 1R |
|
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent... |
OMIM:613424 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... |
ORPHA:101016 |
| Brugada Syndrome 6 |
|
ST segment elevation, Cardiac arrest, Ventricular fibrillation |
OMIM:613119 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
| Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... |
OMIM:611878 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... |
OMIM:611493 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... |
ORPHA:300751 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... |
OMIM:620247 |
| Glaucoma 3, Primary Congenital, E |
|
Ocular hypertension |
OMIM:617272 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... |
OMIM:140400 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Blepharitis, Psoriasiform dermatitis |
OMIM:616834 |
| Glycogen Storage Disease Xv |
|
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... |
OMIM:613507 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... |
OMIM:604169 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Blepharitis, Pustule |
OMIM:614328 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... |
OMIM:108950 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Left Ventricular Noncompaction 8 |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... |
OMIM:615373 |
| Distal Duplication 15Q |
|
Omphalocele, Camptodactyly of finger, Downslanted palpebral fissures, Ptosis, Blepharophimosis |
ORPHA:1707 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Ptosis, Epicanthus, Inguinal hernia, Umbilical hernia |
ORPHA:1373 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... |
OMIM:612158 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... |
OMIM:608751 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... |
OMIM:607554 |
| Brugada Syndrome 9 |
|
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations |
OMIM:616399 |
| Sea-Blue Histiocytosis |
|
Blepharitis |
ORPHA:158029 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... |
OMIM:616201 |
| Leukonychia Totalis |
|
Blepharitis, Abnormal eyelash morphology |
ORPHA:2387 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... |
OMIM:609620 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:618773 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
| Necrobiosis Lipoidica |
|
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Kid Syndrome |
|
Aplastic/hypoplastic lacrimal glands, Recurrent bacterial skin infections, Recurrent cutaneous ab... |
ORPHA:477 |
| Brugada Syndrome 5 |
|
ST segment elevation, Ventricular fibrillation, Bundle branch block |
OMIM:612838 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
| Microphthalmia, Isolated 6 |
|
Ocular hypertension |
OMIM:613517 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Downslanted palpebral fissures, Umbilical hernia |
ORPHA:2143 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... |
ORPHA:563 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Chronic otitis media, Highly arched eyebrow, Long eyelashes, Congenital contracture, Blepharitis,... |
ORPHA:261279 |
| Coronary Arterial Fistula |
|
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... |
ORPHA:2041 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
| Naxos Disease |
|
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... |
ORPHA:34217 |
| Jervell And Lange-Nielsen Syndrome |
|
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes |
ORPHA:90647 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... |
ORPHA:263297 |
| Coproporphyria, Hereditary |
|
Tachycardia, Hypertension |
OMIM:121300 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Upslanted palpebral fissure, Telecanthus, Epicanthus, Omphalocele |
OMIM:601927 |
| Acrodermatitis Enteropathica |
|
Cheilitis, Abnormal eyelid morphology, Blepharitis, Abnormal eyebrow morphology, Pustule, Conjunc... |
ORPHA:37 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Auriculocondylar Syndrome 2B |
|
Limbal dermoid, Telecanthus, Synophrys, Omphalocele |
OMIM:620458 |
| Supravalvular Aortic Stenosis |
|
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... |
ORPHA:3193 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Epistaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
| Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... |
OMIM:619374 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Absent eyelashes, Lacrimal duct atresia, Sparse eyelashes, Blepharitis, Conjunctivitis, Palmoplan... |
OMIM:106260 |
| Manitoba Oculotrichoanal Syndrome |
|
Corneopalpebral synechiae, Omphalocele, Cryptophthalmos, Eyelid coloboma, Nasolacrimal duct obstr... |
OMIM:248450 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Omphalocele, Camptodactyly of toe, Downslanted palpebral fissures, Umbilical her... |
OMIM:175700 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopenia, Splenomega... |
OMIM:226990 |
| Juvenile Xanthogranuloma |
|
Blepharitis, Iritis, Uveitis |
ORPHA:158000 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
| Ebstein Anomaly |
|
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... |
OMIM:224700 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... |
ORPHA:66529 |
| Leber Hereditary Optic Neuropathy |
|
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia |
ORPHA:104 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Telecanthus, Omphalocele, Flexion contracture, Epicanthus |
OMIM:263210 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Umbilical hernia, Omphalocele |
OMIM:275100 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:276556 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... |
OMIM:617222 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... |
OMIM:171420 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Tachycardia |
ORPHA:464453 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:276575 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov... |
OMIM:611705 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:276580 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... |
OMIM:614022 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cheilitis, Inguinal hernia, Abnormal dental enamel morphology, Abnormal eyelid morphology, Abnorm... |
ORPHA:2273 |
| Acalvaria |
|
Omphalocele |
ORPHA:945 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... |
ORPHA:99103 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Inguinal hernia, Diastasis recti, Wrist flexion contracture, Camptodactyly, Omphalocele, Flexion ... |
ORPHA:254528 |
| Lacrimal Duct Defect |
|
Lacrimal duct atresia, Sinusitis, Dacryocystitis, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
| Teebi Hypertelorism Syndrome 1 |
|
Bilateral ptosis, Highly arched eyebrow, Omphalocele, Downslanted palpebral fissures, Upslanted p... |
OMIM:145420 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... |
OMIM:601214 |
| Microcoria, Congenital |
|
Ocular hypertension |
OMIM:156600 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Upslanted palpebral fissure, Omphalocele |
ORPHA:3035 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular hypertension |
OMIM:610023 |
| Kagami-Ogata Syndrome |
|
Short palpebral fissure, Inguinal hernia, Diastasis recti, Omphalocele, Flexion contracture, Blep... |
OMIM:608149 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Horizontal eyebrow, Blepharitis, Pustule, Psoriasiform derma... |
ORPHA:294023 |
| Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhage, Tachycardi... |
ORPHA:449285 |
| Brugada Syndrome 7 |
|
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Danon Disease |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom... |
OMIM:300257 |
| Glaucoma 3, Primary Congenital, A |
|
Ocular hypertension |
OMIM:231300 |
| Xeroderma Pigmentosum |
|
Ectropion, Entropion, Pterygium, Hyperkeratosis, Conjunctival telangiectasia, Blepharitis, Kerati... |
ORPHA:910 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Syncope, Palpitations, Tachycardia |
ORPHA:324575 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Eec Syndrome |
|
Entropion, Inflammatory abnormality of the eye, Abnormal dental enamel morphology, Hyperkeratosis... |
ORPHA:1896 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Irvan Syndrome |
|
Ocular hypertension |
ORPHA:209943 |
| Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... |
OMIM:613426 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele |
OMIM:614450 |
| Orofacial Cleft 15 |
|
Inguinal hernia, Euryblepharon, Distichiasis, Sparse eyelashes, Sparse eyebrow, Ectropion of lowe... |
OMIM:616788 |
| Generalized Eruptive Keratoacanthoma |
|
Ectropion, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele |
ORPHA:1263 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Blepharitis, Inflammation of the large intestine, Recurrent pneumonia, Colonic eosinop... |
OMIM:617718 |
| Moebius Syndrome |
|
Blepharitis, Arthrogryposis multiplex congenita, Ptosis, Epicanthus |
ORPHA:570 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis |
ORPHA:26137 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Developmental And Epileptic Encephalopathy 89 |
|
Highly arched eyebrow, Omphalocele, Downslanted palpebral fissures, Neonatal death, Sparse eyebro... |
OMIM:619124 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Highly arched eyebrow, Synophrys, Omphalocele |
OMIM:618316 |
| 3Mc Syndrome 1 |
|
Telecanthus, Highly arched eyebrow, Diastasis recti, Omphalocele, Synophrys, Ptosis, Downslanted ... |
OMIM:257920 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele |
ORPHA:93267 |
| Megalocornea |
|
Abnormal intraocular pressure |
OMIM:309300 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... |
OMIM:212138 |
| Down Syndrome |
|
Blepharitis, Upslanted palpebral fissure, Epicanthus, Umbilical hernia |
ORPHA:870 |
| Myopathy, Myofibrillar, 1 |
|
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... |
OMIM:601419 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Constricting Bands, Congenital |
|
Bladder exstrophy, Gastroschisis, Eyelid coloboma, Omphalocele |
OMIM:217100 |
| Chromosome 9P Deletion Syndrome |
|
Inguinal hernia, Highly arched eyebrow, Omphalocele, Epicanthus, Narrow palpebral fissure, Upslan... |
OMIM:158170 |
| Glaucoma, Primary Closed-Angle |
|
Ocular hypertension |
OMIM:618880 |
| Indolent Systemic Mastocytosis |
|
Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis |
ORPHA:98848 |
| Limb-Mammary Syndrome |
|
Chronic irritative conjunctivitis, Lacrimal duct atresia, Blepharitis, Absent lacrimal punctum, S... |
ORPHA:69085 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan... |
OMIM:613470 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Long eyelashes, Camptodactyly, Omphalocele |
OMIM:618529 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Telecanthus, Hyperkeratosis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Dacr... |
OMIM:129900 |
| D-Lactic Aciduria With Gout |
|
Downslanted palpebral fissures, Inguinal hernia |
OMIM:245450 |
| Weill-Marchesani Syndrome 3 |
|
Ocular hypertension |
OMIM:614819 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment |
ORPHA:1055 |
| Hepatoerythropoietic Porphyria |
|
Scarring, Ectropion, Loss of eyelashes, Scarring alopecia of scalp, Keratoconjunctivitis, Recurre... |
ORPHA:95159 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension |
OMIM:613870 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... |
ORPHA:860 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Telecanthus, Abnormal eyelash morphology, Omphalocele, Sparse lateral eyebrow, Downslanted palpeb... |
ORPHA:3164 |
| Dyskeratosis Congenita |
|
Periodontitis, Abnormal eyelash morphology, Blepharitis, Abnormal eyebrow morphology, Palmoplanta... |
ORPHA:1775 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Downslanted palpebral fissures, Umbilical hernia |
OMIM:222448 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Trisomy 1Q |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Downslanted palpebral fissures, Omphalo... |
ORPHA:261344 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Syncope, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:615821 |
| Chediak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Spontaneous, recurrent epistaxis, Leukopenia, Splenomegaly, Impaired ne... |
OMIM:214500 |
| Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Arthritis, Eczematoid dermatitis, Sinusitis, Blepharitis, Inflammation of t... |
ORPHA:906 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63862 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,... |
ORPHA:542323 |
| Bartsocas-Papas Syndrome 1 |
|
Ectropion, Axillary pterygium, Popliteal pterygium, Inguinal hernia, Pterygium, Absent eyelashes,... |
OMIM:263650 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... |
OMIM:601005 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Popliteal pterygium, Omphalocele |
ORPHA:3329 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... |
ORPHA:37553 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Prune belly, Omphalocele |
OMIM:601389 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
| Colonic Atresia |
|
Gastroschisis, Omphalocele |
ORPHA:1198 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:600649 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Hypo... |
ORPHA:98850 |
| Carpenter Syndrome 1 |
|
Telecanthus, Camptodactyly, Omphalocele, Epicanthus, Umbilical hernia, Joint contracture of the hand |
OMIM:201000 |
| Chromosome 10Q26 Deletion Syndrome |
|
Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus, Omphalocele |
OMIM:609625 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Limbal dermoid, Omphalocele |
ORPHA:1834 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Flexion contracture of toe, Synophrys, Blepharitis, Recurrent aspiration pneumonia, Epicanthus, U... |
ORPHA:280633 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Diastasis recti, Omphalocele |
ORPHA:254534 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Pterygium, Abnormality of the orbital region, Arthritis, Omphalocele |
ORPHA:371428 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Ectropion, Recurrent otitis media, Synophrys, Long palpebral fissure, Downslanted palpebral fissu... |
OMIM:602562 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hyperkeratosis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Dacryocystitis, Lacrimal duct sten... |
OMIM:604292 |
| Miller-Dieker Lissencephaly Syndrome |
|
Inguinal hernia, Camptodactyly, Omphalocele, Recurrent aspiration pneumonia, Epicanthus, Abnormal... |
OMIM:247200 |
| Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... |
ORPHA:137675 |
| Neovascular Glaucoma |
|
Ocular hypertension |
ORPHA:94058 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction |
OMIM:602668 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infections, Allergic rhi... |
OMIM:603165 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... |
OMIM:171300 |
| Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... |
OMIM:615745 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Bladder Exstrophy |
|
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,... |
ORPHA:26793 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... |
ORPHA:60041 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Congestive heart failure |
ORPHA:90033 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia |
OMIM:613205 |
| Caudal Duplication |
|
Omphalocele |
ORPHA:1756 |
| Yellow Nail Syndrome |
|
Lymphedema, Predominantly lower limb lymphedema |
OMIM:153300 |
| Mast Cell Sarcoma |
|
Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Downslanted palpebral fissures, Omphalocele |
ORPHA:2021 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele |
OMIM:601357 |
| C Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele |
OMIM:211750 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... |
OMIM:618986 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
| Birdshot Chorioretinopathy |
|
Ocular hypertension |
ORPHA:179 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Inguinal hernia, Highly arched eyebrow, Omphalocele, Lacrimal du... |
OMIM:618454 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... |
ORPHA:216694 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
| Tropical Endomyocardial Fibrosis |
|
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... |
ORPHA:75565 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval |
ORPHA:542306 |
| Acrocephalopolydactylous Dysplasia |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele |
OMIM:200995 |
| Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacrimal punctal atresia |
ORPHA:91416 |
| Otopalatodigital Syndrome, Type I |
|
Downslanted palpebral fissures, Omphalocele |
OMIM:311300 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest |
ORPHA:49827 |
| Congenital Erythropoietic Porphyria |
|
Scarring, Ectropion, Loss of eyelashes, Scarring alopecia of scalp, Keratoconjunctivitis, Recurre... |
ORPHA:79277 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... |
OMIM:265300 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... |
OMIM:618935 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in... |
ORPHA:57777 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia |
OMIM:601457 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Tachycardia, Hypertrophic cardiomyopathy |
ORPHA:368 |
| Lethal Congenital Contracture Syndrome 10 |
|
Downslanted palpebral fissures, Omphalocele |
OMIM:617022 |
| Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Congenital bilateral ptosis, Elbow flexion contracture, Omphaloc... |
ORPHA:1692 |
| Aniridia-Absent Patella Syndrome |
|
Ptosis, Inguinal hernia |
ORPHA:1069 |
| Tularemia |
|
Tachycardia |
ORPHA:3392 |
| Mercury Poisoning |
|
Tachycardia, Hypertension, Hypotension |
ORPHA:330021 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Recurrent skin infections, Epicanthus, Con... |
ORPHA:33110 |
| Stiff-Person Syndrome |
|
Tachycardia, Hypertension |
OMIM:184850 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent sinusitis, Recurrent otitis media, Conjunctivitis |
OMIM:613493 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the lacrimal punctum, Highly arched eyebrow, Diastasis recti, Omphalocele, Sparse e... |
OMIM:618419 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chronic lymphatic le... |
ORPHA:98849 |
| Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Ectropion of lower eyelids, ... |
ORPHA:141083 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Blepharophimosis, Inguinal hernia, Omphalocele |
ORPHA:254519 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Telecanthus, Camptodactyly, Long eyelashes, Omphalocele, Epicanthus, Upslanted palpebral fissure |
OMIM:616894 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
| Dyskeratosis Congenita, X-Linked |
|
Sparse eyelashes, Conjunctivitis, Blepharitis, Pterygium |
OMIM:305000 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele |
OMIM:617895 |
| Neuhauser Syndrome |
|
Abnormal intraocular pressure |
OMIM:249310 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... |
OMIM:115197 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... |
OMIM:300952 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura... |
ORPHA:167 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Telecanthus, Omphalocele, Ptosis, Downslanted p... |
ORPHA:2745 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyelashes, Ablepharon, Omphalocele, Camptodactyly of finger, Cryptophthalmos, Absent eyebr... |
ORPHA:920 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Curly eyelashes, Highly arched eyebrow, Synophrys, Long eyelashe... |
ORPHA:199 |
| Pseudotrisomy 13 Syndrome |
|
Upslanted palpebral fissure, Omphalocele |
OMIM:264480 |
| Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Epicanthus, Inguinal hernia, Omphalocele |
OMIM:269860 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Omphalocele, Camptodactyly of finger, Epicanthus, Hernia, Blepha... |
ORPHA:3380 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Conjunctivitis |
OMIM:616740 |
| Cocaine Intoxication |
|
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... |
ORPHA:90068 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Conjunctivitis |
OMIM:612692 |
| Fibrochondrogenesis 1 |
|
Stillbirth, Omphalocele, Camptodactyly, Joint contracture of the hand |
OMIM:228520 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Highly arched eyebrow, Synophrys, Omphalocele, Ptosis, Thick eye... |
ORPHA:2162 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Enamel hypoplasia, Enterocolitis, Psoriasiform dermatitis, Interface hepatitis |
OMIM:243150 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve... |
OMIM:616878 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Hyperostosis Cranialis Interna |
|
Ocular hypertension |
OMIM:144755 |
| Triploidy |
|
Omphalocele |
ORPHA:3376 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia |
OMIM:613327 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyelashes, Camptodactyly, Ablepharon, Omphalocele, Cryptophthalmos, Absent... |
OMIM:200110 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Inguinal hernia, Abnormal de... |
ORPHA:2092 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Sparse eyebrow, Omphalocele |
OMIM:616300 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Malignant Hyperthermia Of Anesthesia |
|
Ventricular tachycardia, Supraventricular tachycardia, Premature ventricular contraction, High-ou... |
ORPHA:423 |
| Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Camptodactyly of finger, Herni... |
ORPHA:575 |
| Meckel Syndrome, Type 2 |
|
Omphalocele |
OMIM:603194 |
| Exfoliation Syndrome |
|
Asymmetry of intraocular pressure |
OMIM:177650 |
| Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Omphalocele, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Umbili... |
ORPHA:1519 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Skin rash, Uveitis, Conjunctivitis |
OMIM:120100 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Short palpebral fissure, Omphalocele, Ptosis, Epicanthus inversus, Epicanthus, Upslanted palpebra... |
OMIM:618820 |
| Scorpion Envenomation |
|
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... |
ORPHA:466677 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
| Double Outlet Right Ventricle |
|
Pulmonic stenosis, Tachycardia, Heart murmur |
ORPHA:3426 |
| Ethylene Glycol Poisoning |
|
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ... |
ORPHA:31826 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Hypertension |
OMIM:176000 |
| Carney Triad |
|
Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia |
ORPHA:139411 |
| Serotonin Syndrome |
|
Tachycardia, Hypertension, Hypotension |
ORPHA:43116 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Ectropion, Entropion, Conjunctivitis |
OMIM:278740 |
| Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Tachycardia, Aborted sudden cardiac death, Dilated cardiomyopath... |
OMIM:614921 |
| Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis |
OMIM:191900 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Ocular hypertension |
OMIM:602499 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Left ventricular systolic dysfunction, Ventricular bigeminy, Tricuspid regurgitation, Ventricular... |
OMIM:620519 |
| Codas Syndrome |
|
Enamel hypoplasia, Ptosis, Omphalocele |
OMIM:600373 |
| Anterior Segment Dysgenesis 1 |
|
Ocular hypertension |
OMIM:107250 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Subungual hyperkeratosis, Inguinal hernia, Absent eyelashes, Hyperkeratosis, Omphalocele, Absent ... |
OMIM:308205 |
| Marshall-Smith Syndrome |
|
Highly arched eyebrow, Aspiration pneumonia, Omphalocele, Shallow orbits, Synophrys, Thick eyebro... |
OMIM:602535 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Downslanted palpebral fissures, Omphalocele |
ORPHA:90652 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Dilated cardiomyopathy, Congestive heart failure |
OMIM:605676 |
| Shprintzen Omphalocele Syndrome |
|
Epicanthus, Omphalocele |
OMIM:182210 |
| Xeroderma Pigmentosum, Variant Type |
|
Keratitis, Ectropion, Entropion, Conjunctivitis |
OMIM:278750 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Lacrimal duct atresia, Absent lacrimal punctum, Lacrimal duct aplasia, Conjunctivitis |
OMIM:620192 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Omphalocele, Hashimoto thyroiditis, Psoriasiform dermatitis, Hepatitis |
ORPHA:436252 |
| Melnick-Needles Syndrome |
|
Omphalocele |
ORPHA:2484 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia |
OMIM:614653 |
| Cardiac Diverticulum |
|
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... |
ORPHA:1686 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63260 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent otitis media, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis, Conjunctivitis,... |
OMIM:607594 |
| Fryns Syndrome |
|
Stillbirth, Aplasia of the left hemidiaphragm, Camptodactyly, Omphalocele, Narrow palpebral fissu... |
OMIM:229850 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Hypertension, Orthostatic hypotension |
OMIM:223900 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ventral hernia, Omphalocele |
OMIM:313850 |
| Eisenmenger Syndrome |
|
Right-to-left shunt, Atrial fibrillation, Elevated jugular venous pressure, Supraventricular arrh... |
ORPHA:97214 |
| Absence Of The Pulmonary Artery |
|
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... |
ORPHA:980 |
| Porphyria Variegata |
|
Tachycardia, Hypertension |
ORPHA:79473 |
| Renal Nutcracker Syndrome |
|
Syncope, Orthostatic hypotension, Tachycardia |
ORPHA:71273 |
| Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:887 |
| Osteopathia Striata With Cranial Sclerosis |
|
Flexion contracture of toe, Camptodactyly, Omphalocele, Epicanthus, Joint contracture of the hand |
OMIM:300373 |
| Simpson-Golabi-Behmel Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:373 |
| Alg9-Cdg |
|
Shallow orbits, Lipodystrophy, Telecanthus, Omphalocele |
ORPHA:79328 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Capillary leak, Hypotension, Tachycardia, Shock |
ORPHA:36234 |
| Uveal Melanoma |
|
Ocular hypertension |
ORPHA:39044 |
| Anterior Segment Dysgenesis 7 |
|
Ocular hypertension |
OMIM:269400 |
| Neuroleptic Malignant Syndrome |
|
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e... |
ORPHA:94093 |
| Cholera |
|
Tachycardia, Hypovolemic shock, Hypotension |
ORPHA:173 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
| Herpes Simplex Virus Stromal Keratitis |
|
Ocular hypertension |
ORPHA:137599 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele |
ORPHA:2736 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, Epistaxis, S... |
ORPHA:340 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:233710 |
| 1P31P32 Microdeletion Syndrome |
|
Ocular hypertension |
ORPHA:401986 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the orbital region, Inguinal hernia, Omphalocele, Bladder exstrophy, Cystocele, Ab... |
ORPHA:322 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia |
OMIM:277400 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:233690 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Conjunctival hyperemia, Erysipelas, Conjunctivitis, Maculopapular exanthema,... |
OMIM:142680 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2059 |
| Familial Dysautonomia |
|
Tachycardia, Hypertension, Orthostatic hypotension |
ORPHA:1764 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal... |
ORPHA:99827 |
| Weill-Marchesani Syndrome 4 |
|
Ocular hypertension |
OMIM:613195 |
| Holoprosencephaly 7 |
|
Upslanted palpebral fissure, Shallow orbits, Synophrys, Omphalocele |
OMIM:610828 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Ectropion, Entropion, Conjunctivitis |
OMIM:278720 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Umbilical hernia, Omphalocele |
ORPHA:2241 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic ... |
ORPHA:505248 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
| Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1335 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia |
OMIM:617877 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular hypertension |
OMIM:614195 |
| C Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Epicanthus, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:1308 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Ectropion, Entropion, Keratitis, Conjunctivitis, Keratoconjunctivitis sicca |
OMIM:278730 |
| Graft Versus Host Disease |
|
Tachycardia |
ORPHA:39812 |
| Juvenile Glaucoma |
|
Ocular hypertension |
ORPHA:98977 |
| Cloacal Exstrophy |
|
Bladder exstrophy, Cloacal exstrophy, Omphalocele |
ORPHA:93929 |
| Autoimmune Hypoparathyroidism |
|
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval |
ORPHA:36913 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Rectal abscess, Granuloma, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:306400 |
| Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short palpebral fissure, Diastasis recti, Camptodactyly, Omphalocele, Interphalangeal joint contr... |
ORPHA:96334 |
| Gitelman Syndrome |
|
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia |
OMIM:263800 |
| Charge Syndrome |
|
Highly arched eyebrow, Omphalocele, Ptosis, Epicanthus, Umbilical hernia, Eyelid coloboma |
ORPHA:138 |
| Hennekam-Beemer Syndrome |
|
Hypotension, Mastocytosis, Camptodactyly of finger, Telangiectasia of the skin, Arrhythmia |
ORPHA:2135 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Ptosis, Epicanthus inversus, Omphalocele |
OMIM:249000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... |
OMIM:261740 |
| Melnick-Needles Syndrome |
|
Stillbirth, Recurrent otitis media, Omphalocele |
OMIM:309350 |
| Acute Intermittent Porphyria |
|
Tachycardia, Hypertension |
ORPHA:79276 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Distichiasis, Ptosis, Conjunctivitis, Recurrent skin infections, Tubulointerstitial ne... |
ORPHA:33001 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Ectropion, Entropion, Conjunctivitis |
OMIM:278700 |
| Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
| Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... |
ORPHA:98853 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo... |
ORPHA:98855 |
| Tatton-Brown-Rahman Syndrome |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Mitral regurgitation,... |
ORPHA:404443 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:2166 |
| Dural Sinus Malformation |
|
Ocular hypertension |
ORPHA:97339 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita, Omphalocele |
ORPHA:63259 |
| Wagro Syndrome |
|
Ocular hypertension |
OMIM:612469 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Flexion contracture, Lipodystrophy, Conj... |
OMIM:617591 |
| Anterior Segment Dysgenesis 2 |
|
Ocular hypertension |
OMIM:610256 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
| Okamoto Syndrome |
|
Long palpebral fissure, Ptosis, Omphalocele |
ORPHA:2729 |
| Marburg Hemorrhagic Fever |
|
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... |
ORPHA:99826 |
| Acute Generalized Exanthematous Pustulosis |
|
Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Conjunctivitis, Acantholysis, E... |
ORPHA:293173 |
| Esophageal Atresia |
|
Esophagitis, Omphalocele |
ORPHA:1199 |
| Idiopathic Panuveitis |
|
Ocular hypertension |
ORPHA:280921 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Ocular hypertension |
ORPHA:2953 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric... |
ORPHA:98863 |
| Posterior Polymorphous Corneal Dystrophy |
|
Ocular hypertension |
ORPHA:98973 |
| Fraser Syndrome |
|
Omphalocele, Umbilical hernia, Cryptophthalmos, Lacrimal duct aplasia, Malformed lacrimal duct |
ORPHA:2052 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Arthritis, Hyperkeratosis, Pericarditis, Pustule, Inflammation of ... |
ORPHA:29207 |
| Cogan Syndrome |
|
Inflammatory abnormality of the eye, Episcleritis, Keratitis, Conjunctivitis, Scleritis, Uveitis |
ORPHA:1467 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Enteroviral hepatitis, Sinusitis, Epidi... |
OMIM:307200 |
| Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Omphalocele, Downslanted palpebral fissures, Umbilical hernia, Elbow contracture |
OMIM:304120 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
| Kindler Epidermolysis Bullosa |
|
Ectropion, Cheilitis, Periodontitis, Abnormal dental enamel morphology, Hyperkeratosis, Esophagit... |
ORPHA:2908 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Lacrimal duct stenosis, Conjunctivitis |
OMIM:615560 |
| Leukocyte Adhesion Deficiency |
|
Perianal abscess, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormalit... |
ORPHA:2968 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Diastasis recti, Omphalocele |
OMIM:265380 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Inguinal hernia, Diastasis recti, Omphalocele, Enamel hypoplasia... |
OMIM:305600 |
| Onychotrichodysplasia And Neutropenia |
|
Short eyelashes, Chronic irritative conjunctivitis, Curly eyelashes |
OMIM:258360 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Distichiasis, Ptosis, Conjunctivitis, Cellulitis |
OMIM:153400 |
| Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Decreased circulating antibody level, Elbow flexion contracture, Tran... |
ORPHA:3132 |
| Ogden Syndrome |
|
Supraventricular tachycardia, Premature ventricular contraction, Pulmonary arterial hypertension,... |
OMIM:300855 |
| Fuchs Heterochromic Iridocyclitis |
|
Ocular hypertension |
ORPHA:263479 |
| Pagod Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:991 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Diastasis recti, Omphalocele, Umbilical hernia |
ORPHA:116 |
| Late-Onset Retinal Degeneration |
|
Ocular hypertension |
ORPHA:67042 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Stillbirth, Inguinal hernia, Camptodactyly of 2nd-5th fingers, T... |
OMIM:601803 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Congestive heart failure, Supraventricular arrhythmia, Hype... |
ORPHA:280365 |
| Congenital Microcoria |
|
Ocular hypertension |
ORPHA:566 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele |
ORPHA:3186 |
| Relapsing Polychondritis |
|
Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Episc... |
ORPHA:728 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele |
OMIM:306955 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Ventricular arrhythmia |
OMIM:620475 |
| Nail-Patella Syndrome |
|
Ocular hypertension |
ORPHA:2614 |
| Oeis Complex |
|
Bladder exstrophy, Cloacal exstrophy, Omphalocele |
OMIM:258040 |
| Developmental And Epileptic Encephalopathy 111 |
|
Sinus tachycardia, Hypertension, Premature ventricular contraction |
OMIM:620504 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... |
OMIM:620066 |
| Charge Syndrome |
|
Downslanted palpebral fissures, Ptosis, Omphalocele, Umbilical hernia |
OMIM:214800 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Ocular hypertension |
OMIM:610199 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Tachycardia, Prolonged QT interval |
ORPHA:1772 |
| Degcags Syndrome |
|
Pulmonic stenosis, Pulmonary arterial hypertension, Tachycardia |
OMIM:619488 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Ocular hypertension |
ORPHA:93315 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Epicanthus, Omphalocele |
ORPHA:93271 |
| Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Omphalocele |
OMIM:130650 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Conjunctivitis, Bronchiectasis |
OMIM:601495 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Reduced left ventricular ejection fraction, Atrial fibrillation, Ventricular arrhythmia, Arrhythm... |
ORPHA:254892 |
| Nocardiosis |
|
Scleritis, Thyroiditis, Lymphadenitis, Pericarditis, Keratitis, Dacryocystitis, Conjunctivitis, P... |
ORPHA:31204 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Abnormal heart valve physiology, Aortic regurgitation, Tachycardia |
ORPHA:3384 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Omphalocele |
OMIM:236680 |
| Marfan Syndrome |
|
Congestive heart failure, Aortic regurgitation, Mitral regurgitation, Ventricular tachycardia, Ab... |
ORPHA:558 |
| Traboulsi Syndrome |
|
Ocular hypertension |
OMIM:601552 |
| Plague |
|
Hematemesis, Arrhythmia, Hypotension, Tachycardia |
ORPHA:707 |
| Oculoauricular Syndrome |
|
Ocular hypertension |
OMIM:612109 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Hypertension, Supraventricular tachycardia |
OMIM:181270 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Trichiasis, Skin rash, Conjunctival hyperemia, Chemosis, Rhinitis,... |
ORPHA:95455 |
| Steinert Myotonic Dystrophy |
|
Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac... |
ORPHA:273 |
| Alkaptonuria |
|
Ocular hypertension |
ORPHA:56 |
| Sympathetic Ophthalmia |
|
Ocular hypertension |
ORPHA:79098 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia |
OMIM:618280 |
| Tsh-Secreting Pituitary Adenoma |
|
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr... |
ORPHA:91347 |
| Sarcoidosis |
|
Heart block, Abnormal cardiac ventricular function, Portal hypertension, Arrhythmia, Ventricular ... |
ORPHA:797 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Low-output congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Ri... |
ORPHA:99125 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
OMIM:309801 |
| Phacoanaphylactic Uveitis |
|
Ocular hypertension |
ORPHA:209959 |
| Legius Syndrome |
|
Pulmonic stenosis, Paroxysmal atrial tachycardia |
ORPHA:137605 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland aplasia, Hypoplasia of the lacrimal punctum, Telecanthus, Lacrimal gland hypoplasi... |
OMIM:149730 |
| Holt-Oram Syndrome |
|
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non... |
OMIM:142900 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Ocular hypertension |
ORPHA:91500 |
| Pmm2-Cdg |
|
Angina pectoris, Hypertrophic cardiomyopathy, Pericarditis, Intracranial hemorrhage, Impaired neu... |
ORPHA:79318 |
