Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a... |
OMIM:231060 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums |
ORPHA:401942 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Renal hypoplasia, Cleft palate, Cleft upper lip |
OMIM:236110 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94090 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Cleft palate, Hypoplastic left heart, Transposition... |
ORPHA:1727 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali... |
OMIM:616749 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:601927 |
You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate, Coarctation of aorta, Vascular ring, Double aortic arch |
OMIM:616954 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:600251 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:309930 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip, Hypospadias |
ORPHA:1919 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
Mmep Syndrome |
|
Microphthalmia, Median cleft lip, Ventricular septal defect, Orofacial cleft |
ORPHA:3434 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Cleft upper lip |
ORPHA:3316 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted low... |
OMIM:616920 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft upper lip, Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, M... |
OMIM:613885 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Dextrocardia, Situs inversus totalis |
OMIM:617577 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Abnormal left ventricular function, Hypocalcemic seizures, Hyperphosphatem... |
ORPHA:36913 |
Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
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, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary artery, Midgu... |
ORPHA:2326 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Abnormally large globe, Vascular ring |
OMIM:603387 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Hypocalcemia |
ORPHA:2238 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... |
OMIM:601349 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Anophthalmia, Displacement of the urethral meatus, A... |
ORPHA:3378 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
X-Linked Intellectual Disability, Siderius Type |
|
Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... |
OMIM:601005 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cl... |
OMIM:612561 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Bilatera... |
OMIM:601186 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... |
OMIM:179613 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Fryns Syndrome |
|
Tented upper lip vermilion, Abnormal aortic arch morphology, High palate, Vesicoureteral reflux, ... |
ORPHA:2059 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary ce... |
ORPHA:66625 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Tooth agenesis, Abnormal aortic mor... |
ORPHA:1166 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Anophthalmia, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip |
ORPHA:2007 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interrupted aortic arc... |
ORPHA:250989 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic steno... |
ORPHA:3304 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis |
OMIM:615508 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cleft palate |
OMIM:164180 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Absent pulmonary artery, Patent ductus a... |
OMIM:600460 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, High, narrow palate, Renal hypoplasia, Micropenis, Tetralogy of Fallot |
OMIM:617926 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Anal atresia, Tetralogy of Fall... |
ORPHA:1381 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cleft palate, Aortic valve stenosis, Hypoplastic left hea... |
OMIM:220210 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor... |
ORPHA:411986 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, V... |
OMIM:267000 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, Interrupted inferior vena cava with a... |
OMIM:206920 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... |
ORPHA:26793 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Intestinal malrotation, ... |
OMIM:618316 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Widely-spaced maxillary central incisors, Microphthalmia, Tetralogy of Fallot, ... |
OMIM:136760 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... |
ORPHA:449400 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Hydrolethalus |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Mi... |
ORPHA:2189 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, Abnormal intestin... |
ORPHA:3080 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft... |
OMIM:300712 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate |
ORPHA:1681 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Burn-Mckeown Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft pa... |
OMIM:608572 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Thoracic aortic aneurysm, Intestinal malrotation, Ventricular septal defect... |
OMIM:619657 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate |
OMIM:611867 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart |
ORPHA:2476 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Patent ductus arteriosus, Orofa... |
OMIM:243310 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Charlie M Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth |
ORPHA:1406 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip |
OMIM:168500 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection |
OMIM:135580 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m... |
OMIM:147250 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturned corners of mouth, Ar... |
ORPHA:1110 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Pa... |
ORPHA:77298 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm,... |
OMIM:616652 |
Feingold Syndrome Type 1 |
|
Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arter... |
ORPHA:391641 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... |
OMIM:618021 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia |
ORPHA:171876 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Renal cyst, Cleft palate, Cleft upper lip |
OMIM:611561 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:261344 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High palate, Atrial septal d... |
OMIM:614846 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Ventricular arrhythmia |
OMIM:141000 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated circulating cr... |
OMIM:310300 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... |
ORPHA:173 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Cleft palate, Cleft upper lip |
OMIM:244600 |
Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Pat... |
ORPHA:477817 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Ventricular septal defect, Ham... |
OMIM:174300 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Cleft... |
ORPHA:163979 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border, Narrow mouth... |
OMIM:615502 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Abnormal aort... |
ORPHA:1926 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Anodontia |
OMIM:225060 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ec... |
ORPHA:2549 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor, Hydronephr... |
OMIM:602418 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricular canal defect,... |
OMIM:264480 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Autosomal Recessive Amelia |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Hypoplasia of penis, Orofacial cleft |
ORPHA:1027 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Mitral stenosis, Ventricular septal defect, Hypospadias, Cleft upper lip, Cl... |
ORPHA:2008 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, ... |
OMIM:618280 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cleft palate, Renal insufficiency, Median cleft lip, Abnormal cerebral vascular morphology |
ORPHA:2165 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip |
OMIM:613192 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Coarctation of aorta, Abnormal heart morphology, H... |
ORPHA:2209 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy... |
ORPHA:247353 |
Orofaciodigital Syndrome Viii |
|
Median cleft lip, High palate, Cleft palate |
OMIM:300484 |
Hartsfield Syndrome |
|
Microphthalmia, Non-midline cleft lip, Cleft palate |
ORPHA:2117 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Pulmonary artery stenos... |
ORPHA:96167 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:94089 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Thoracoabdominal Syndrome |
|
Hypospadias, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Transposition of the great ... |
OMIM:313850 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft palate |
OMIM:607597 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, High palate, Cleft palate, Cleft upper lip |
OMIM:609654 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic... |
OMIM:616166 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Cleft upper lip, Cleft palate, Abnormal heart morphology, Narrow mouth |
OMIM:239800 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis |
OMIM:610125 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... |
ORPHA:980 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip |
OMIM:601357 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... |
ORPHA:94080 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:612530 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy... |
OMIM:613845 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Charge Syndrome |
|
Aortic arch aneurysm, Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft pal... |
ORPHA:138 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Dysplastic pulmonary valve, Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:300958 |
Feingold Syndrome 1 |
|
Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Esophageal atresia, Patent ductus... |
OMIM:164280 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia |
ORPHA:79273 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia |
ORPHA:428 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ureteral duplication, Ventricular sept... |
ORPHA:2255 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Horseshoe kidney, Cleft upper lip |
OMIM:216100 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Cleft upper lip, Conical tooth,... |
OMIM:106260 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Patent ductus arteriosus, Cle... |
OMIM:244300 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cleft palat... |
OMIM:614294 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Truncus arteriosus, Ventricular septal defect, Cleft palate |
OMIM:601355 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Orofacial cleft |
ORPHA:77300 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Micropenis, Cleft palate, Cleft upper lip |
OMIM:244200 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypocalcemia, Hypomagnese... |
ORPHA:73224 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypospadias, Patent ductus arteriosus, Orofacial cleft, Coarctation of aorta, Methylmalonic acidu... |
ORPHA:17 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Cleft palate, Cleft upper lip |
OMIM:601076 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Hypocalc... |
ORPHA:746 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypospadias,... |
ORPHA:353281 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Non-midline cleft lip, Cleft palate, Microdontia,... |
ORPHA:1915 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Cleft upper lip, Patent d... |
OMIM:612582 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial septal defect, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, In... |
OMIM:270100 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal aortic morphology, Truncus... |
ORPHA:2516 |
Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Non-midline cleft lip, Cleft palate, Pulmonary... |
ORPHA:1908 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Paten... |
OMIM:301043 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein... |
OMIM:153400 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, High, narrow palate, Aortic isthmus hypoplasia, High palate, Atrial septal defec... |
OMIM:180849 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
Chromosome 18Q Deletion Syndrome |
|
Thin upper lip vermilion, Absence of the pulmonary valve, Ventricular septal defect, Hypospadias,... |
OMIM:601808 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Zechi-Ceide Syndrome |
|
Oligodontia, Cleft palate, Cleft upper lip |
OMIM:612916 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Non-midline cleft lip, Cleft palate, Wi... |
ORPHA:3376 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Rhabdoid Tumor |
|
Hypertension, Hypercalcemia, Internal hemorrhage |
ORPHA:69077 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Median cleft lip, Cleft palate, Abnormality of the dentition |
ORPHA:1794 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cleft palate, Orofacial... |
ORPHA:915 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Dental crowding, Ventricular septal defect, Unilateral renal agenesis,... |
ORPHA:96170 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
Holoprosencephaly |
|
Hypoplasia of penis, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Ventricu... |
ORPHA:2162 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... |
OMIM:618494 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Non-midline cleft lip, C... |
ORPHA:1335 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia |
OMIM:145260 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Abn... |
OMIM:239300 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Dental crowding, Bicuspid aortic valve, Fusiform ... |
OMIM:617168 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Oligodontia, Fused teeth, Atrial septal defect, Bifid uvula, Hypospadias, Persisten... |
OMIM:300166 |
Oculoskeletodental Syndrome |
|
Lacunar stroke, Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Distal Deletion 10P |
|
Hypoplasia of penis, Non-midline cleft lip, Cleft palate, Ectopic anus, Anal atresia |
ORPHA:1580 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pyloric stenosis, Patent ductu... |
OMIM:610443 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ... |
OMIM:300000 |
Pallister-Hall Syndrome |
|
Natal tooth, Hydroureter, Ventricular septal defect, Distal urethral duplication, Cleft upper lip... |
OMIM:146510 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... |
ORPHA:466650 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ... |
OMIM:200990 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620157 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'... |
ORPHA:513456 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Fai... |
ORPHA:2250 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Hypokalem... |
ORPHA:411634 |
Distal Monosomy 7Q36 |
|
Wide mouth, Non-midline cleft lip, Hypoplasia of penis, Cleft palate |
ORPHA:1636 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bif... |
ORPHA:899 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypertension, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Bradycardia, Hypotension |
ORPHA:391673 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Optic nerve hypoplasia, Hypospadias, Vesicoureteral reflux, Megarectum... |
OMIM:301056 |
Charge Syndrome |
|
Anophthalmia, Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Micr... |
OMIM:214800 |
Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate, Long philtrum |
ORPHA:1252 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... |
OMIM:601678 |
Pai Syndrome |
|
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology |
ORPHA:1993 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Trisomy 8Q |
|
Hypoplasia of penis, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum... |
ORPHA:1752 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Orofaciodigital Syndrome Vi |
|
Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Coarctation of aorta... |
OMIM:277170 |
Lymphedema-Distichiasis Syndrome |
|
Proteinuria, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose veins, Tubulointer... |
ORPHA:33001 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Patent ductus ar... |
ORPHA:2712 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo... |
ORPHA:261183 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Tooth agenesis, Micropenis, Cleft palate, Cleft upper lip |
OMIM:147950 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Elevated cir... |
ORPHA:36234 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia of the p... |
ORPHA:90322 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Naxos Disease |
|
Cardiomyopathy, Cleft upper lip |
ORPHA:34217 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Hypodontia, Anal atresia, Conical tooth |
OMIM:119580 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-normal blood p... |
ORPHA:358 |
Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Agenesis of incisor, Dental malocclusion, ... |
OMIM:610829 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip, Deep philtrum, Thin ve... |
OMIM:618622 |
Digeorge Syndrome |
|
Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, High, narrow palate, P... |
OMIM:188400 |
Pallister-Hall-Like Syndrome |
|
Microglossia, Median cleft lip, Cleft palate, Micropenis |
OMIM:241800 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, High palate, Abnormal uv... |
ORPHA:79321 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia |
ORPHA:83601 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, High palate, Atrial septal defect, Vesicoureteral reflux,... |
ORPHA:353277 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... |
ORPHA:89938 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... |
ORPHA:79444 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... |
ORPHA:231625 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Intestinal malrotation, ... |
ORPHA:2538 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corners of mouth, H... |
OMIM:605627 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hy... |
ORPHA:1596 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro... |
ORPHA:2470 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Zaki Syndrome |
|
Patent ductus arteriosus, Wide mouth, Median pseudocleft lip, High palate, Short philtrum, Patent... |
OMIM:619648 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenes... |
ORPHA:1297 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Cleft upper lip, Ectopic k... |
OMIM:164210 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Abnormality of the philtrum, Non-midline cleft lip, Abnormality of the... |
ORPHA:1770 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, High palate, Transposition of the great arteries, Atrial ... |
ORPHA:1913 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate |
OMIM:258865 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Abnormal cardiac ventricle morphology, Hypoplastic... |
ORPHA:261311 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Ureteropelvic junction obstruction, Ventricular septal defect, Open mo... |
OMIM:280000 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary... |
OMIM:311200 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Renal hypoplasia, Cleft pa... |
OMIM:616300 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Hypospadias, Thick lower lip vermilion, Submucous cleft hard palate, H... |
OMIM:619103 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Porphyria Variegata |
|
Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Non-midline cleft lip, Cleft palate, Everted lower lip vermilion, High palate |
ORPHA:1784 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pulmonary artery stenosis, Cle... |
OMIM:100300 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, Abnormality of th... |
ORPHA:819 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Cleft upper lip |
OMIM:607371 |
Lymphatic Malformation 5 |
|
Hypoplasia of lymphatic vessels, Cleft palate |
OMIM:153200 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Deep philtrum,... |
ORPHA:163956 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Median cleft lip, Orofacial cleft, Microphthalmia, Tetralogy of Fallot |
ORPHA:3186 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myocardial infarction, Myocarditis, Hypo... |
ORPHA:3452 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, Hypovolemia, Hyperka... |
ORPHA:95409 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension |
ORPHA:199299 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, ... |
OMIM:129400 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hypertension, Hyperkalemia |
ORPHA:97362 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypertension, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... |
ORPHA:79443 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper l... |
ORPHA:861 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Schisis Association |
|
Anal atresia, Unilateral cleft lip, Tracheoesophageal fistula, Cleft palate |
ORPHA:63862 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Distal Triplication 15Q |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Abnormal heart morphology, H... |
ORPHA:314588 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Non-midline cleft lip, Cleft palate, Downturned corner... |
ORPHA:2075 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli... |
ORPHA:199302 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... |
ORPHA:371428 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Pierre-Robin sequence... |
OMIM:616145 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias... |
OMIM:206900 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Vasculitis, Hematuria, Aortic dissection, Glossitis, Abdominal... |
ORPHA:397 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... |
ORPHA:2328 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... |
ORPHA:3253 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Pat... |
OMIM:617506 |
Enlarged Parietal Foramina |
|
Cleft lip, Abnormal cerebral vein morphology, Cleft palate, Venous malformation |
ORPHA:60015 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... |
OMIM:619472 |
Microphthalmia With Limb Anomalies |
|
Macrodontia, Cleft upper lip, Venous insufficiency, Cleft palate, Horseshoe kidney, Thin vermilio... |
ORPHA:1106 |
Multiple Pterygium Syndrome, X-Linked |
|
Hypoplastic heart, Cleft palate, Cleft upper lip |
OMIM:312150 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip, Cl... |
ORPHA:261236 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Agene... |
ORPHA:141099 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... |
ORPHA:276621 |
Nager Syndrome |
|
Unilateral renal agenesis, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal palate morph... |
ORPHA:245 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypertrophic cardiomyopathy, Hyperkalemia, Hypotension |
ORPHA:361 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primary teeth, Abnormality of... |
ORPHA:90321 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Secundum atrial sept... |
OMIM:249420 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Paten... |
OMIM:619268 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ... |
OMIM:241200 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft lip, Patent ductus arteriosus, Cleft palate, Narrow palate, Pulmonic stenosis, Atrial septa... |
OMIM:618223 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... |
OMIM:115470 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ab... |
ORPHA:251071 |
Frontofacionasal Dysplasia |
|
Microphthalmia, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:268850 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ... |
OMIM:617982 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teet... |
OMIM:164200 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Median cleft lip, Renal insufficiency, Abnormal dental enamel morph... |
ORPHA:2750 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Renal tubular dysf... |
OMIM:614886 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Unilateral cleft ... |
OMIM:616897 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Cleft upper lip |
ORPHA:894 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias, Long philtrum |
OMIM:615877 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Multicystic kidney dysplasia, Dental crowding, Intestinal malrotation... |
OMIM:300373 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Dilated cardiomyopathy, Cleft pal... |
OMIM:242840 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:90791 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Familial Dysautonomia |
|
Hyponatremia, Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Down Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Atrioventricular canal defec... |
OMIM:190685 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Vesic... |
OMIM:605039 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, High, narrow palate, Tricuspid valve prolapse, Long philtrum, Aniridia |
ORPHA:1101 |
Holoprosencephaly 14 |
|
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... |
OMIM:619895 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... |
OMIM:310200 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Abnormality of th... |
ORPHA:887 |
Mirage Syndrome |
|
Intracranial hemorrhage, Hyponatremia, Hyperkalemia |
OMIM:617053 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
3Mc Syndrome 1 |
|
Dental crowding, Ventricular septal defect, Cleft upper lip, Cleft lip, Patent ductus arteriosus,... |
OMIM:257920 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cleft palate, Long philtrum, Microp... |
OMIM:164745 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great arteries, Open ... |
OMIM:616789 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620155 |
Postaxial Acrofacial Dysostosis |
|
Non-midline cleft lip, Cleft palate |
ORPHA:246 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, High palate, Atrioventricular canal defect, Aplasia/Hypoplasia of the optic n... |
ORPHA:40366 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplasia of the tongu... |
ORPHA:564 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Cleft upper lip |
ORPHA:96181 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Patent ductus arteriosus, Supernumerary tooth, Aplasia... |
OMIM:617088 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Prot... |
OMIM:122470 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Dental crowding, Intestinal malrotation, Hypospadias, Cleft upper lip, Pyloric ste... |
OMIM:305450 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Cleft palate, Curved linear dimple below the lower lip, Hypodontia, Broad philtrum |
OMIM:305400 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Cleft palate, Narrow mouth |
ORPHA:1234 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis |
ORPHA:544482 |
Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Culler-Jones Syndrome |
|
Micropenis, Cleft palate, Cleft upper lip |
OMIM:615849 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip |
ORPHA:2511 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia |
OMIM:613150 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Bilateral cleft lip and palate |
ORPHA:2003 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Ventricular septal defec... |
ORPHA:2473 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Cheilitis, S... |
ORPHA:2331 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Cartilage-Hair Hypoplasia |
|
Heart block, Cardiomyopathy, Hypocalcemia |
ORPHA:175 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95512 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension |
ORPHA:95613 |
Pearson Syndrome |
|
Cardiac conduction abnormality, Hypophosphatemia, Cardiomyopathy, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:699 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly... |
OMIM:613091 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia |
OMIM:201180 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Cleft soft ... |
OMIM:301068 |
3Mc Syndrome 2 |
|
Hypospadias, Cleft upper lip, Cleft palate, Horseshoe kidney, Downturned corners of mouth, High p... |
OMIM:265050 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Anophthalmia, Dental crowding, Hypospadias, Cleft upper lip,... |
OMIM:219000 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, ... |
OMIM:229850 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... |
ORPHA:29072 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent... |
OMIM:610505 |
H Syndrome |
|
Malabsorption, Cleft upper lip, Gingival overgrowth, Varicose veins, Micropenis, Enlarged kidney |
ORPHA:168569 |
Fraser Syndrome |
|
Anal stenosis, Anophthalmia, Dental crowding, Hypoplasia of penis, Multicystic kidney dysplasia, ... |
ORPHA:2052 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Shigellosis |
|
Hyponatremia, Myocarditis, Hypovolemic shock, Abnormal blood ion concentration |
ORPHA:810 |
Holoprosencephaly 4 |
|
Median cleft lip, Median cleft lip and palate |
OMIM:142946 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Hypovolemia, Hyperkalemia, Hypochloremia, Hypotension |
ORPHA:90794 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
Sheehan Syndrome |
|
Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
3Mc Syndrome 3 |
|
Cleft upper lip, Horseshoe kidney, Cleft palate, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
Acromelic Frontonasal Dysostosis |
|
Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Cleft upper lip, Cleft palate, U-Shaped... |
OMIM:603671 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Submucous cleft hard palate, Cleft palate, Gi... |
ORPHA:2588 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Bilateral microphthalmos, Cleft pa... |
OMIM:610828 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to... |
OMIM:269860 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95513 |
Larsen Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Hypodontia, Atrial septal defect, Aorti... |
OMIM:150250 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Renal hypoplasia, Cleft palate, C... |
OMIM:105650 |
Meckel Syndrome, Type 6 |
|
Renal cyst, Horseshoe kidney, Cleft palate, Cleft upper lip |
OMIM:612284 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N... |
OMIM:161200 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Partial an... |
OMIM:619343 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Oligodontia, Unilateral cleft lip |
ORPHA:1787 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... |
ORPHA:99125 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Increased circulating renin l... |
ORPHA:85138 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia |
ORPHA:251274 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Postaxial Acrofacial Dysostosis |
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Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Cleft palate, Micropenis |
OMIM:263750 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Urethral atresia, T... |
OMIM:314390 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Vesicoureteral reflux, Hyp... |
ORPHA:567 |
Distal Deletion 12Q |
|
Median cleft lip, Ectopic kidney, High, narrow palate, Supernumerary tooth, Patent ductus arterio... |
ORPHA:96149 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... |
OMIM:619534 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Pat... |
OMIM:154400 |
Cerebrofaciothoracic Dysplasia |
|
Wide mouth, Cleft palate, Broad philtrum, Cleft upper lip |
ORPHA:1394 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Cleft palate |
ORPHA:1300 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate |
ORPHA:2213 |
Monosomy 13Q34 |
|
Hematochezia, Hypercalcemia, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Oligodontia |
OMIM:601701 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aorti... |
ORPHA:2962 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Trisomy 18 |
|
Ventricular septal defect, Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate... |
ORPHA:3380 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Cleft upper lip, Patent ductus arteriosus, Gingival overgrowth, Microd... |
OMIM:213980 |
Constricting Bands, Congenital |
|
Ectopia cordis, Bladder exstrophy, Cleft palate, Cleft upper lip |
OMIM:217100 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:293978 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:168558 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Hypovolemia, Hyperkalemia, Hypotension,... |
ORPHA:275761 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate |
OMIM:611812 |
Faciocardiorenal Syndrome |
|
Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f... |
ORPHA:1973 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Short lingual frenul... |
ORPHA:79500 |
Unilateral Ocular Duplication |
|
Median cleft lip, Cleft palate |
ORPHA:3374 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:289548 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpholog... |
ORPHA:2710 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Ureteral duplication, Anophthalmia, Intestinal malrotation, Cleft uppe... |
OMIM:305600 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Microphallus, Thick upper lip ve... |
OMIM:612651 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach polyps, Cardiac fibrom... |
OMIM:109400 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... |
ORPHA:141127 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Open mouth, Hypoplastic aortic arch, Optic nerve hypoplasia, Unilateral renal agenesis |
ORPHA:457284 |
14Q22Q23 Microdeletion Syndrome |
|
Downturned corners of mouth, Optic nerve aplasia, Anophthalmia, Renal hypoplasia |
ORPHA:264200 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla... |
ORPHA:85443 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal atresia |
ORPHA:3412 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Ureteral duplication, Exaggerated cupid's bow, Mult... |
ORPHA:709 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f... |
ORPHA:1780 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Epispadi... |
ORPHA:2556 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Thick vermilion border, Long philtrum, Atrial septal defect, Microphthalmia |
ORPHA:2526 |
Recessive Mitochondrial Ataxia Syndrome |
|
Increased serum pyruvate, ST segment elevation |
ORPHA:94125 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Cleft upper lip, Cleft palate, Buphthalmos, Microphthalmia, Anal atresia |
OMIM:236670 |
Acromelic Frontonasal Dysplasia |
|
Wide mouth, Median cleft lip, Median cleft palate |
ORPHA:1827 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... |
ORPHA:230 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Ascending aorta hypoplasia, Deep philtrum, Downturned corners of mouth, High pal... |
OMIM:619503 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Ventricular septal defe... |
OMIM:235730 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula |
OMIM:119500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p... |
OMIM:263520 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypoalbuminemia, Hypocalcemia, Portal hypertension |
OMIM:613658 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo... |
ORPHA:167 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Cleft palate, Anteriorly placed anus, C... |
OMIM:309801 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Clef... |
OMIM:607872 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, C... |
OMIM:604292 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Long penis, Gingival o... |
OMIM:135500 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Cleft upper lip, Swollen lip, Patent ductus arteriosus, Thick lower li... |
OMIM:256520 |
Fibular Hemimelia |
|
Anophthalmia, Abnormal heart morphology |
ORPHA:93323 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:480864 |
Arterial Tortuosity Syndrome |
|
Median cleft lip and palate, Hiatus hernia, Pyloric stenosis, Pulmonary artery stenosis, Dilated ... |
ORPHA:3342 |
8Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal age... |
ORPHA:508488 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Short philtrum... |
ORPHA:50 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Orofaciodigital Syndrome Type 4 |
|
Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv... |
ORPHA:2753 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate |
ORPHA:1848 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Cleft upper lip, Ectopic kidney, Cleft palate, Oral synechia, Microphthalmia, Micr... |
OMIM:263650 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial... |
OMIM:609192 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Cleft palate, Urethral atresia, Microphthalmia, Anal atresia |
OMIM:273395 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir... |
ORPHA:268 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the philtrum, Abnormal heart valve morphology, Hypospadias, Cleft upper lip, Cleft... |
ORPHA:280 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Aganglionic megacolon, Bicuspid aortic valve, Cleft upper lip, Hyp... |
OMIM:309800 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, X... |
OMIM:129900 |
Roberts Syndrome |
|
Cleft upper lip, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia, Microphthalmia |
ORPHA:3103 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:373 |
Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
Chime Syndrome |
|
Abnormal dental morphology, Ventricular septal defect, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Frontofacionasal Dysplasia |
|
Microphthalmia, Bifid uvula, Orofacial cleft, Cleft upper lip |
OMIM:229400 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ... |
ORPHA:70591 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cleft upper lip, Deep philtrum, Cleft palate, Hydronephrosis, Anal atresia |
OMIM:251260 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Craniofrontonasal Syndrome |
|
Abnormality of the dentition, Hypospadias, Cleft palate, Cleft upper lip |
OMIM:304110 |
Peters-Plus Syndrome |
|
Thin upper lip vermilion, Ureteral duplication, Short lingual frenulum, Bilateral cleft lip, Exag... |
OMIM:261540 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Atrial septal defect, Exaggerated median tongue furrow, Hypospadias, Patent ductus ar... |
OMIM:312870 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261537 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Cleft upper lip, Abnormal cardiac septum morphology, Hydronephrosis, S... |
OMIM:308050 |
Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Median cleft lip and palate, Dental crowding, Abnormal dent... |
ORPHA:3310 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Mowat-Wilson Syndrome |
|
Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Widely spaced te... |
ORPHA:2152 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Renal hypoplasia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Abnormality of the dentition, Malrotation of colon, Cleft upper lip, L... |
OMIM:113620 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Parathyroid Carcinoma |
|
Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Aicardi Syndrome |
|
Microphthalmia, Hiatus hernia, Cleft palate, Cleft upper lip |
OMIM:304050 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Portal hypertension, Hypertension, Increased serum bil... |
ORPHA:731 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261552 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Mitral valve prolaps... |
ORPHA:828 |
Joubert Syndrome 21 |
|
Anophthalmia, Renal cyst |
OMIM:615636 |
Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Ventricular septal defect, Hypospadias, Cleft upper lip, Malrotation of small bow... |
OMIM:194190 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Kyphomelic Dysplasia |
|
Cleft palate, Cleft upper lip |
OMIM:211350 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Restrictive cardiomyopathy, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Pollakisuria, Anal atresia |
ORPHA:647 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Bifid uvula... |
OMIM:613795 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Ventricular septal defect, Pulmonary artery stenosis, Deep philtrum, ... |
ORPHA:96334 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia |
OMIM:620330 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect,... |
OMIM:236680 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Long penis, Cl... |
OMIM:268300 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Vipoma |
|
Hematochezia, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Ppoma |
|
Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:97278 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Telangiectasia |
ORPHA:93400 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Zollinger-Ellison Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:913 |
Steinfeld Syndrome |
|
Microphthalmia, Abnormal heart morphology, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Alobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Cleft palate, Abnormal heart morphology, High palate, Solitary median maxillary... |
ORPHA:220386 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:97283 |
Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Esophageal atresia, Renal hypoplasi... |
ORPHA:93271 |
Grfoma |
|
Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:97261 |
Johanson-Blizzard Syndrome |
|
Increased VLDL cholesterol concentration, Portal hypertension, Conjugated hyperbilirubinemia, Dil... |
OMIM:243800 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypertension, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Hypercalcemia |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Shortened QT interval, Hematemesis, Melena, Hypertension |
ORPHA:652 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Sarcoidosis |
|
Abnormal cardiac ventricular function, Hypercalcemia, Portal hypertension, Heart block, Ventricul... |
ORPHA:797 |
Vater/Vacterl Association |
|
Ventricular septal defect, Hypospadias, Ectopic kidney, Esophageal atresia, Patent ductus arterio... |
OMIM:192350 |
Williams Syndrome |
|
Hypercalcemia, Sudden cardiac death, Myocardial infarction, Elevated circulating creatine kinase ... |
ORPHA:904 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures |
OMIM:612301 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy |
ORPHA:2131 |
Holoprosencephaly 2 |
|
Submucous cleft hard palate, Bilateral cleft lip and palate, Single ventricle, Solitary median ma... |
OMIM:157170 |
Williams-Beuren Syndrome |
|
Hypercalcemia, Portal hypertension, Hypertension, Mitral regurgitation, Pulmonic stenosis, Suprav... |
OMIM:194050 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis, Single ventricle, Median cleft lip and palate |
OMIM:236100 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia |
OMIM:241080 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave |
ORPHA:444072 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... |
ORPHA:3385 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia |
ORPHA:3464 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:601992 |
Sotos Syndrome |
|
Hypercalcemia |
ORPHA:821 |