Lipedema |
|
Edema |
OMIM:614103 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... |
OMIM:300918 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
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 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
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 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Palmoplant... |
OMIM:308800 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Lichen Planus Pemphigoides |
|
Hyperkeratosis, Conjunctivitis, Blepharitis |
ORPHA:254478 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Folliculitis, Palmoplant... |
OMIM:612843 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Synophrys |
ORPHA:3366 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Epicanthus |
ORPHA:1906 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B... |
ORPHA:163934 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
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 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
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 |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Palmoplantar keratoderma, Sparse eyelashes, Eczema, Blepharitis |
OMIM:618535 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Blepharitis |
OMIM:602400 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Miller-Dieker Syndrome |
|
Omphalocele, Epicanthus |
ORPHA:531 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Glaucoma 1, Open Angle, F |
|
Ocular hypertension |
OMIM:603383 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Trigonocephaly 1 |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele, Synophrys |
OMIM:190440 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... |
ORPHA:90064 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy |
OMIM:607487 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Ifap Syndrome 2 |
|
Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Angular cheilitis |
OMIM:619016 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruc... |
OMIM:604173 |
Clouston Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Palmoplantar hyperkeratosis, Conjunctivitis, Blepharitis |
OMIM:129500 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Glaucoma 3, Primary Congenital, E |
|
Ocular hypertension |
OMIM:617272 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Blepharitis, Erythroderma |
OMIM:614328 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Distal Duplication 15Q |
|
Omphalocele, Camptodactyly of finger, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
ORPHA:1707 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Umbilical hernia, Epicanthus, Inguinal hernia, Ptosis |
ORPHA:1373 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon, Palmoplantar keratode... |
OMIM:106260 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Sea-Blue Histiocytosis |
|
Blepharitis |
ORPHA:158029 |
Leukonychia Totalis |
|
Abnormal eyelash morphology, Blepharitis |
ORPHA:2387 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Immunodeficiency 32B |
|
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
Necrobiosis Lipoidica |
|
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Microphthalmia, Isolated 6 |
|
Ocular hypertension |
OMIM:613517 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Downslanted palpebral fissures, Congenital diaphragmatic hernia |
ORPHA:2143 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Reduction of neutrophil motility |
OMIM:266265 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Congenital contracture, Long eyelashes, Chronic otitis media, ... |
ORPHA:261279 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy |
OMIM:255100 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele, Telecanthus |
OMIM:601927 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Cheilitis, Conjunctivitis, Blep... |
ORPHA:37 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Uveitis |
ORPHA:158000 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:613630 |
Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Flexion contracture |
OMIM:263210 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276556 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos |
OMIM:248450 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276575 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations |
ORPHA:276580 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Absent eyebrow, Inguinal hernia, Omphalocele, Abnormal nasolacrimal system morpholo... |
ORPHA:2273 |
Acalvaria |
|
Omphalocele |
ORPHA:945 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Epicanthus, Inguinal hernia, Diastasis recti, Flexion contracture, Narrow palpebral ... |
ORPHA:254528 |
Microcoria, Congenital |
|
Ocular hypertension |
OMIM:156600 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular hypertension |
OMIM:610023 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Downslanted pa... |
OMIM:145420 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Blepharophimosis, Short palpe... |
OMIM:608149 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Upslanted palpebral fissure, Omphalocele |
ORPHA:3035 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
Glaucoma 3, Primary Congenital, A |
|
Ocular hypertension |
OMIM:231300 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Entropion, Keratitis, Ankyloblepharon, Hyperkeratosis, Pterygium, Bl... |
ORPHA:910 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal intraocular pressure |
ORPHA:209956 |
D-Lactic Aciduria With Gout |
|
Inguinal hernia, Downslanted palpebral fissures |
OMIM:245450 |
Eec Syndrome |
|
Entropion, Abnormal dental enamel morphology, Sparse eyebrow, Keratitis, Hyperkeratosis, Blephari... |
ORPHA:1896 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations |
ORPHA:324575 |
Irvan Syndrome |
|
Ocular hypertension |
ORPHA:209943 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia |
ORPHA:276608 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele |
OMIM:614450 |
Moebius Syndrome |
|
Arthrogryposis multiplex congenita, Epicanthus, Blepharitis, Ptosis |
ORPHA:570 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Boomerang Dysplasia |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Inflammation of the large intestine, Colonic eosinophilia, Cellul... |
OMIM:617718 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Upslanted palpebral fiss... |
OMIM:619124 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Omphalocele, Telecanthus, Diastasis recti, Highly arched eyebrow, Sy... |
OMIM:257920 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Synophrys, Highly arched eyebrow |
OMIM:618316 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:601163 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele |
ORPHA:93267 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
Constricting Bands, Congenital |
|
Omphalocele, Eyelid coloboma, Bladder exstrophy, Gastroschisis |
OMIM:217100 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
Glaucoma, Primary Closed-Angle |
|
Ocular hypertension |
OMIM:618880 |
Chromosome 9P Deletion Syndrome |
|
Omphalocele, Epicanthus, Inguinal hernia, Highly arched eyebrow, Upslanted palpebral fissure, Nar... |
OMIM:158170 |
Neovascular Glaucoma |
|
Ocular hypertension |
ORPHA:94058 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring, Scarring alopecia of scalp, Loss of eyelashes, Ker... |
ORPHA:95159 |
Weill-Marchesani Syndrome 3 |
|
Ocular hypertension |
OMIM:614819 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Foot dorsiflexor wea... |
OMIM:214500 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Dacryocystitis, Hyperkeratosis, B... |
OMIM:129900 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Telecanthus, Abnormal eyelash morphology, Downslanted palpebral fissures, Sparse lat... |
ORPHA:3164 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... |
ORPHA:860 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Synophrys, Upslanted palpebral fissure, Blepharitis, Recurrent aspiration pneumonia, ... |
ORPHA:280633 |
Trisomy 1Q |
|
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Downslanted palpebral fissures, Congenital diaphragmatic hernia |
OMIM:222448 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Ablepharon, Inguinal hernia, Cicatricial lagophthalmos, Absent eyela... |
OMIM:263650 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Palmoplantar keratoderma, Periodontitis... |
ORPHA:1775 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Popliteal pterygium |
ORPHA:3329 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63862 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Long eyelashes, Camptodactyly |
OMIM:618529 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia |
OMIM:619737 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly |
OMIM:601389 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the large intestine, Conjunctivitis, Oti... |
ORPHA:906 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal... |
OMIM:618935 |
Chromosome 10Q26 Deletion Syndrome |
|
Upslanted palpebral fissure, Omphalocele, Epicanthus, Downslanted palpebral fissures |
OMIM:609625 |
Axial Mesodermal Dysplasia Spectrum |
|
Limbal dermoid, Omphalocele, Congenital diaphragmatic hernia |
ORPHA:1834 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
Carpenter Syndrome 1 |
|
Omphalocele, Epicanthus, Telecanthus, Camptodactyly, Umbilical hernia, Joint contracture of the hand |
OMIM:201000 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Umbilical hernia, Diastasis recti |
ORPHA:254534 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fissure, Downslanted... |
OMIM:602562 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Arthritis, Pterygium, Abnormality of the orbital region |
ORPHA:371428 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Epicanthus, Inguinal hernia, Abnormality of the abdominal wall, Upslanted palpebral ... |
OMIM:247200 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction |
OMIM:602668 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Hyperkeratosis, Blephar... |
OMIM:604292 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Bladder Exstrophy |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... |
ORPHA:26793 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
Caudal Duplication |
|
Omphalocele |
ORPHA:1756 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Allergic rhinitis |
ORPHA:26137 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Atopic dermatitis, Conjunctivitis |
OMIM:603165 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Fibrochondrogenesis |
|
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger |
ORPHA:2021 |
C Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele |
OMIM:211750 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele |
OMIM:601357 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachycardia |
ORPHA:264675 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis |
OMIM:613493 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia |
ORPHA:79264 |
Birdshot Chorioretinopathy |
|
Ocular hypertension |
ORPHA:179 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Epicanthus, Inguinal hernia, Congenital diaphragmatic hernia, Highly arched eyebrow,... |
OMIM:618454 |
Acrocephalopolydactylous Dysplasia |
|
Upslanted palpebral fissure, Epicanthus, Omphalocele |
OMIM:200995 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele, Downslanted palpebral fissures |
OMIM:311300 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Scarring, Increased connective tissue, Scarring alopecia of ... |
ORPHA:79277 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest |
ORPHA:49827 |
High Altitude Pulmonary Edema |
|
Tachycardia |
ORPHA:330012 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia |
ORPHA:368 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Downslanted palpebral fissures |
OMIM:617022 |
Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Cardiorespiratory arrest |
ORPHA:280785 |
Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Ptosis |
ORPHA:1069 |
Tularemia |
|
Tachycardia |
ORPHA:3392 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Epicanthus, Diastasis recti, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of th... |
OMIM:618419 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... |
ORPHA:167 |
Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat... |
ORPHA:33110 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
Kagami-Ogata Syndrome |
|
Blepharophimosis, Inguinal hernia, Omphalocele, Diastasis recti |
ORPHA:254519 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Epicanthus, Telecanthus, Upslanted palpebral fissure, Long eyelashes, Camptodactyly |
OMIM:616894 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Internal hemorrhage |
ORPHA:335 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele |
OMIM:617895 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
OMIM:229700 |
Dyskeratosis Congenita, X-Linked |
|
Pterygium, Sparse eyelashes, Conjunctivitis, Blepharitis |
OMIM:305000 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Ablepharon, Camptodactyly of finger, Absent eyelashes, Umbilical her... |
ORPHA:920 |
Opitz Gbbb Syndrome |
|
Omphalocele, Telecanthus, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia, Dow... |
ORPHA:2745 |
Pseudotrisomy 13 Syndrome |
|
Upslanted palpebral fissure, Omphalocele |
OMIM:264480 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia |
ORPHA:485405 |
Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis |
ORPHA:91416 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Epicanthus, Omphalocele, Inguinal hernia |
OMIM:269860 |
Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
Trisomy 18 |
|
Omphalocele, Epicanthus, Camptodactyly of finger, Congenital diaphragmatic hernia, Hernia, Blepha... |
ORPHA:3380 |
Cornelia De Lange Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Congenital diaphragmatic hernia, Synophrys, Long eyelashe... |
ORPHA:199 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis |
OMIM:612692 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Immunodeficiency 46 |
|
Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Fibrochondrogenesis 1 |
|
Omphalocele, Joint contracture of the hand, Stillbirth, Camptodactyly |
OMIM:228520 |
Holoprosencephaly |
|
Omphalocele, Epicanthus, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Upsla... |
ORPHA:2162 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... |
OMIM:616878 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
Hyperostosis Cranialis Interna |
|
Ocular hypertension |
OMIM:144755 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Psoriasiform dermatitis, Enterocolitis, Interface hepatitis, Enamel hypoplasia |
OMIM:243150 |
Triploidy |
|
Omphalocele |
ORPHA:3376 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Ablepharon, Omphalocele, Hypoplasia of eyelid, Absent eyelashes, ... |
OMIM:200110 |
Exfoliation Syndrome |
|
Asymmetry of intraocular pressure |
OMIM:177650 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... |
ORPHA:423 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Stillbirth, Omphalocele |
OMIM:616300 |
Meckel Syndrome, Type 2 |
|
Omphalocele |
OMIM:603194 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,... |
ORPHA:2092 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Absent eyebrow, Subungual hyperkeratosis, Inguinal hernia, Recurrent skin infections... |
OMIM:308205 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Highly arched eyebrow, Umbilical hernia, Downslanted palpebral fissures, Thick eyebr... |
ORPHA:1519 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Epicanthus, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fissur... |
OMIM:618820 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
Double Outlet Right Ventricle |
|
Tachycardia, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
Carney Triad |
|
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia |
ORPHA:139411 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema |
OMIM:191900 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... |
OMIM:614921 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia |
ORPHA:263455 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Entropion, Conjunctivitis, Ectropion |
OMIM:278740 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Ocular hypertension |
OMIM:602499 |
Anterior Segment Dysgenesis 1 |
|
Ocular hypertension |
OMIM:107250 |
Codas Syndrome |
|
Omphalocele, Enamel hypoplasia, Ptosis |
OMIM:600373 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Downslanted palpebral fissures, Camptodactyly of finger |
ORPHA:90652 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Epicanthus |
OMIM:182210 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... |
OMIM:607594 |
Xeroderma Pigmentosum, Variant Type |
|
Keratitis, Entropion, Conjunctivitis, Ectropion |
OMIM:278750 |
Marshall-Smith Syndrome |
|
Omphalocele, Highly arched eyebrow, Synophrys, Aspiration pneumonia, Shallow orbits, Umbilical he... |
OMIM:602535 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Hepatitis, Hashimoto thyroiditis |
ORPHA:436252 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Recta... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Recta... |
OMIM:233710 |
Melnick-Needles Syndrome |
|
Omphalocele |
ORPHA:2484 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia |
OMIM:620192 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Granu... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Recta... |
OMIM:233690 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63260 |
Fryns Syndrome |
|
Omphalocele, Narrow palpebral fissure, Stillbirth, Aplasia of the left hemidiaphragm, Camptodacty... |
OMIM:229850 |
Thoracoabdominal Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Ventral hernia |
OMIM:313850 |
Eisenmenger Syndrome |
|
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... |
ORPHA:97214 |
Vacterl/Vater Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:887 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Epicanthus, Camptodactyly, Joint contracture of the hand, Flexion contracture of toe |
OMIM:300373 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Epicanthus, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic herni... |
ORPHA:373 |
Porphyria Variegata |
|
Hypertension, Tachycardia |
ORPHA:79473 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
Uveal Melanoma |
|
Ocular hypertension |
ORPHA:39044 |
Anterior Segment Dysgenesis 7 |
|
Ocular hypertension |
OMIM:269400 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Alg9-Cdg |
|
Omphalocele, Telecanthus, Lipodystrophy, Shallow orbits |
ORPHA:79328 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
1P31P32 Microdeletion Syndrome |
|
Ocular hypertension |
ORPHA:401986 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele |
ORPHA:2736 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abnormality of the or... |
ORPHA:322 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia |
ORPHA:348 |
Hyperthyroidism, Nonautoimmune |
|
Tachycardia |
OMIM:609152 |
Weill-Marchesani Syndrome 4 |
|
Ocular hypertension |
OMIM:613195 |
Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2059 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Conjunctival hypere... |
OMIM:142680 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Respiratory insufficiency, Hypote... |
ORPHA:2135 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:2241 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Entropion, Conjunctivitis, Ectropion |
OMIM:278720 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... |
ORPHA:505248 |
Holoprosencephaly 7 |
|
Upslanted palpebral fissure, Synophrys, Omphalocele, Shallow orbits |
OMIM:610828 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia |
ORPHA:35858 |
Pentalogy Of Cantrell |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:1335 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
Graft Versus Host Disease |
|
Tachycardia |
ORPHA:39812 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular hypertension |
OMIM:614195 |
C Syndrome |
|
Omphalocele, Epicanthus, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:1308 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
OMIM:278730 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia |
ORPHA:36913 |
Juvenile Glaucoma |
|
Ocular hypertension |
ORPHA:98977 |
Cloacal Exstrophy |
|
Omphalocele, Bladder exstrophy, Cloacal exstrophy |
ORPHA:93929 |
Rh Deficiency Syndrome |
|
Tachycardia |
ORPHA:71275 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Epicanthus, Interphalangeal joint contracture of finger, Diastasis recti, Flexion co... |
ORPHA:96334 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Epicanthus inversus, Camptodactyly of finger, Ptosis |
OMIM:249000 |
Melnick-Needles Syndrome |
|
Recurrent otitis media, Stillbirth, Omphalocele |
OMIM:309350 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Pneumonia, Lymphocytic interstitial pneumonia, Polycythemia, P... |
ORPHA:2968 |
Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... |
ORPHA:98853 |
Mirizzi Syndrome |
|
Tachycardia |
ORPHA:521219 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... |
ORPHA:98855 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Recurrent skin infections, Tubulointerstitial nephritis, Conjunctivitis, Distichiasis,... |
ORPHA:33001 |
Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Entropion, Conjunctivitis, Ectropion |
OMIM:278700 |
Anterior Segment Dysgenesis 2 |
|
Ocular hypertension |
OMIM:610256 |
Fraser Syndrome |
|
Omphalocele, Lacrimal duct aplasia, Malformed lacrimal duct, Umbilical hernia, Cryptophthalmos |
ORPHA:2052 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Umbilical hernia |
ORPHA:2166 |
Dural Sinus Malformation |
|
Ocular hypertension |
ORPHA:97339 |
Iniencephaly |
|
Omphalocele, Arthrogryposis multiplex congenita, Gastroschisis, Congenital diaphragmatic hernia |
ORPHA:63259 |
Idiopathic Panuveitis |
|
Ocular hypertension |
ORPHA:280921 |
Wagro Syndrome |
|
Ocular hypertension |
OMIM:612469 |
Tatton-Brown-Rahman Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... |
ORPHA:404443 |
Okamoto Syndrome |
|
Long palpebral fissure, Omphalocele, Ptosis |
ORPHA:2729 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Lipodystrophy, Flexion contracture, Arthritis, Panniculitis, Conj... |
OMIM:617591 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Aplastic anemia, Pneumon... |
ORPHA:811 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
Posterior Polymorphous Corneal Dystrophy |
|
Ocular hypertension |
ORPHA:98973 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... |
ORPHA:98863 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Esophageal Atresia |
|
Omphalocele, Esophagitis |
ORPHA:1199 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Ocular hypertension |
ORPHA:2953 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pustule, Cheilitis, Eosinophilic derm... |
ORPHA:293173 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,... |
ORPHA:29207 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye |
ORPHA:1467 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Elbow contracture, Stillbirth, Umbilical hernia, Downslanted palpebral fissures |
OMIM:304120 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block |
OMIM:610131 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Flexion co... |
ORPHA:2908 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Omphalocele, Diastasis recti |
OMIM:265380 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um... |
OMIM:305600 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis |
OMIM:615560 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Conjunctivitis, Cellulitis, Distichiasis, Ectropion |
OMIM:153400 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes |
OMIM:258360 |
Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:991 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:116 |
Ogden Syndrome |
|
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... |
OMIM:300855 |
Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Elbow flexion contracture, Abnormal T cell morphology... |
ORPHA:3132 |
Late-Onset Retinal Degeneration |
|
Ocular hypertension |
ORPHA:67042 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype... |
ORPHA:280365 |
Congenital Microcoria |
|
Ocular hypertension |
ORPHA:566 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele |
ORPHA:3186 |
Nail-Patella Syndrome |
|
Ocular hypertension |
ORPHA:2614 |
Fuchs Heterochromic Iridocyclitis |
|
Ocular hypertension |
ORPHA:263479 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Oeis Complex |
|
Omphalocele, Bladder exstrophy, Cloacal exstrophy |
OMIM:258040 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele |
OMIM:306955 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
Pallister-Killian Syndrome |
|
Omphalocele, Telecanthus, Epicanthus, Sparse eyelashes, Inguinal hernia, Congenital diaphragmatic... |
OMIM:601803 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Ocular hypertension |
OMIM:610199 |
Charge Syndrome |
|
Omphalocele, Umbilical hernia, Downslanted palpebral fissures, Ptosis |
OMIM:214800 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Ocular hypertension |
ORPHA:93315 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Epicanthus |
ORPHA:93271 |
Degcags Syndrome |
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Pulmonary arterial hypertension, Tachycardia, Pulmonic stenosis |
OMIM:619488 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti |
OMIM:130650 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media |
OMIM:601495 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... |
ORPHA:254892 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis |
ORPHA:3384 |
Hydrolethalus Syndrome 1 |
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Omphalocele, Stillbirth |
OMIM:236680 |
Plague |
|
Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |
Nocardiosis |
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Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Dacryocystitis, Peritonitis, Th... |
ORPHA:31204 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Ocular hypertension |
OMIM:601552 |
Oculoauricular Syndrome |
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Ocular hypertension |
OMIM:612109 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure |
OMIM:181270 |
Steinert Myotonic Dystrophy |
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Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich... |
ORPHA:95455 |
Sympathetic Ophthalmia |
|
Ocular hypertension |
ORPHA:79098 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
Sarcoidosis |
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Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... |
ORPHA:797 |
Cardiac-Urogenital Syndrome |
|
Tachycardia |
OMIM:618280 |
Congenital Total Pulmonary Venous Return Anomaly |
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Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia |
OMIM:309801 |
Phacoanaphylactic Uveitis |
|
Ocular hypertension |
ORPHA:209959 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Hypoplasia of the lacrimal punct... |
OMIM:149730 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Ocular hypertension |
ORPHA:91500 |
Legius Syndrome |
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Paroxysmal atrial tachycardia, Pulmonic stenosis |
ORPHA:137605 |
Pmm2-Cdg |
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Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Intracranial he... |
ORPHA:79318 |