| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification |
OMIM:114065 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... |
ORPHA:3093 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile acid concentration |
OMIM:619256 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Aortic regurgitation, ... |
ORPHA:402075 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Arrhythmia, Aortic valve calcification |
OMIM:616298 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous malformation, Arteriovenous fistula |
OMIM:608354 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Gout, Type II diabetes mellitus, Hy... |
OMIM:610947 |
| Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula |
ORPHA:1053 |
| Arterial Dissection-Lentiginosis Syndrome |
|
Arterial dissection, Arteriovenous malformation |
ORPHA:1682 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
| Cerebral Arteriovenous Malformation |
|
Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula |
ORPHA:46724 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Calcification of the aorta, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... |
OMIM:613642 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect |
OMIM:614475 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:620010 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... |
OMIM:314400 |
| Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Subvalvular a... |
OMIM:620067 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Abnormal cerebral vascular morphology, Subarachnoid hemorrhage, Vascu... |
ORPHA:53719 |
| Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula |
ORPHA:141179 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Distal Duplication 14Q |
|
Short stature, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Intrauterine growth retardation, Overriding aorta, Arteriovenous... |
ORPHA:1110 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
| Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Venous malformation, Spinal arteriov... |
ORPHA:90307 |
| Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula |
ORPHA:141184 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
| Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
| Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency |
ORPHA:624 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Calcification... |
ORPHA:56 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Venous insufficiency |
ORPHA:137608 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
| Blue Rubber Bleb Nevus |
|
Arteriovenous malformation |
ORPHA:1059 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation |
ORPHA:2875 |
| Alkaptonuria |
|
Aortic valve calcification, Mitral valve calcification, Coronary artery calcification, Arthritis |
OMIM:203500 |
| Dural Sinus Malformation |
|
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... |
ORPHA:97339 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... |
OMIM:108800 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... |
OMIM:613426 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... |
ORPHA:77261 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
| Klippel-Trénaunay Syndrome |
|
Abnormality of the pulmonary artery, Patent ductus arteriosus, Peripheral arteriovenous fistula, ... |
ORPHA:90308 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... |
OMIM:614823 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus |
ORPHA:1208 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Arteriovenous malformation |
ORPHA:702 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Currarino Syndrome |
|
Arteriovenous malformation |
ORPHA:1552 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Mucopolysaccharidosis Type 7 |
|
Arteriovenous malformation, Umbilical hernia |
ORPHA:584 |
| Adams-Oliver Syndrome |
|
Tetralogy of Fallot, Pulmonary artery atresia, Arteriovenous malformation, Encephalocele |
ORPHA:974 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... |
ORPHA:2299 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity |
OMIM:616278 |
| Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Aortic regurgitation,... |
ORPHA:740 |
| Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Venous malformation, Myelopathy, Arteriovenous fistula |
ORPHA:79093 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Rickets |
OMIM:607765 |
| Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, Cerebral arteriovenous malformation, Arteriovenous fistula, Vein of G... |
ORPHA:137667 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Arteriovenous malformation |
ORPHA:60040 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Osteopenia |
OMIM:610539 |
| Melorheostosis |
|
Peripheral arteriovenous fistula |
ORPHA:2485 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Cutis Marmorata Telangiectatica Congenita |
|
Intrauterine growth retardation, Arterial stenosis, Arteriovenous malformation, Patent ductus art... |
ORPHA:1556 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Postprandial hyperglycemia, Rickets, Glycosuria, Osteomalacia, Hyperbilirubinemia, ... |
OMIM:227810 |
| Glomuvenous Malformation |
|
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation |
ORPHA:83454 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... |
OMIM:132900 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification |
ORPHA:95717 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Type II diabetes mellitus, Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, In... |
OMIM:616860 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Conjugated hyperbilirubinemia, Rickets |
OMIM:211600 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steatorrhea, Conjugated hype... |
ORPHA:79303 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Arthritis |
OMIM:619825 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Aortic aneurysm, Patent ductus arteriosus, Frontal encephalocele |
ORPHA:261102 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage |
OMIM:182410 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Atrial septal defect |
OMIM:617744 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... |
ORPHA:766 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... |
ORPHA:229 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... |
OMIM:614300 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
| Gaucher Disease |
|
Aortic valve calcification, Hepatitis, Abnormal pericardium morphology, Abnormal heart valve morp... |
ORPHA:355 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
| Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Calcification of the aorta, Spontaneous, recu... |
ORPHA:2072 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Aortic aneurysm, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:109 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... |
ORPHA:99094 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Bicuspid aortic valve, Double outlet right ventricle |
OMIM:618845 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Arthritis, Pericarditis |
OMIM:609939 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Osteoporosis, Neonatal hyperbilirubinemia, Hypoglycemia |
ORPHA:73272 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... |
ORPHA:2847 |
| Hyperlipoproteinemia, Type V |
|
Increased circulating chylomicron concentration, Increased VLDL cholesterol concentration, Decrea... |
OMIM:144650 |
| Fanconi Anemia |
|
Arteriovenous malformation, Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardatio... |
ORPHA:84 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Rheumatic Fever |
|
Epistaxis, Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal mitral val... |
ORPHA:3099 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... |
OMIM:182250 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Subcutaneous calcification, Chondrocalcinosis,... |
ORPHA:79474 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:266120 |
| Glycogen Storage Disease Vii |
|
Gout, Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232800 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... |
ORPHA:158057 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Steatorrhea, Hyperbilirubinemia |
OMIM:235555 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:618892 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... |
OMIM:616501 |
| American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Skin rash, Infectious encephalitis, Arrhythmia, Achalas... |
ORPHA:3386 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Yao Syndrome |
|
Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunct... |
OMIM:617321 |
| Rh-Null, Amorph Type |
|
Hyperbilirubinemia |
OMIM:617970 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension |
ORPHA:401923 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Abnormal cortical b... |
OMIM:614886 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Hypoglycemia |
OMIM:619075 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... |
OMIM:610655 |
| Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Abnormal cerebral vascular morphology, Transient ischemic attack, Pul... |
ORPHA:774 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale |
OMIM:619149 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve |
OMIM:618955 |
| Superficial Siderosis |
|
Subarachnoid hemorrhage, Arteriovenous malformation, Abnormal vertebral artery morphology |
ORPHA:247245 |
| Immune-Mediated Necrotizing Myopathy |
|
Congestive heart failure, Palpitations, Skin rash, Myositis, Raynaud phenomenon, Myocarditis |
ORPHA:206569 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Atrioventricular canal defect, Tricuspid regurgitation, Abnormal aortic valve morphology, Bicuspi... |
ORPHA:1120 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugat... |
OMIM:617156 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus |
OMIM:614432 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Delayed proximal f... |
ORPHA:95716 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia... |
ORPHA:1667 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus |
OMIM:615710 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ... |
ORPHA:348 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Chondrocalcinosis, Abnormal atri... |
ORPHA:732 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Glycosuria |
OMIM:613404 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Conjuga... |
OMIM:617093 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Intracranial hemorrhage, Arteriovenous malformation |
ORPHA:394 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity |
ORPHA:98870 |
| Klippel-Trenaunay-Weber Syndrome |
|
Arteriovenous fistula |
OMIM:149000 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hypoglycemia, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatini... |
OMIM:608836 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Decreased LDL cholester... |
OMIM:618156 |
| Polyarteritis Nodosa |
|
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis |
ORPHA:767 |
| Hennekam Syndrome |
|
Arteriovenous malformation, Mild postnatal growth retardation, Pulmonary lymphangiectasia |
ORPHA:2136 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pericarditis |
ORPHA:163596 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulating interle... |
ORPHA:319552 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
ORPHA:210122 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Mitral regurgitation, Mitral valve prolapse, Knee osteoarthritis, Pe... |
ORPHA:2848 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve |
OMIM:300997 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis |
ORPHA:188 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity |
OMIM:613280 |
| Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Abnormal circulating interleukin concentration, Sepsis, Hypotension, Abnormality of t... |
ORPHA:70578 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis |
ORPHA:85414 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... |
ORPHA:464343 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Eczematoid dermatitis, Abnormal heart morphology, Recurrent otitis media, Pa... |
ORPHA:500159 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... |
ORPHA:183 |
| Lathosterolosis |
|
Osteoporosis, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia |
OMIM:607330 |
| Microscopic Polyangiitis |
|
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Uveitis, Congestive heart failure, Episclerit... |
ORPHA:727 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia, Dupuytren contracture, Limited elbow movement, Limited shoulder movement, Art... |
ORPHA:39812 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... |
ORPHA:139402 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Hyperbilirubinemia, Hypocalcemia, Osteopetrosis, Decreased osteoclast count... |
OMIM:259720 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli... |
ORPHA:14 |
| Scrub Typhus |
|
Hypotension, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis |
ORPHA:83317 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concent... |
OMIM:251880 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
| Juvenile Polyposis Syndrome |
|
Arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformation, Hepa... |
ORPHA:2929 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Pericardial effusion, Prolonged QTc interval, Pericarditis, Serositis |
ORPHA:231111 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus |
ORPHA:1455 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Oligoarthritis... |
ORPHA:31205 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Skin rash, Myositis, Pulmonary arterial hypertension, Telangiectasia of the... |
ORPHA:81 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve |
OMIM:619318 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Ventricular septal defect, Bi... |
OMIM:617751 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Ischemic stroke, Pulmonary arteriovenous fistulas |
ORPHA:2038 |
| Scedosporiosis |
|
Pneumonia, Ectopic calcification, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthriti... |
ORPHA:449280 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Steatorrhea, Hyperbilirubinemia |
OMIM:613812 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... |
ORPHA:363705 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level |
OMIM:266200 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Patent foramen ovale, Abnormal cardiac septum morphology |
OMIM:615009 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Grange Syndrome |
|
Bicuspid aortic valve, Renovascular hypertension, Coronary artery stenosis |
OMIM:602531 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia, Bone cyst |
ORPHA:400 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Bicuspid aortic valve, Eczematoid dermatitis, Atrial septal defect |
OMIM:619721 |
| Legionnaires Disease |
|
Hypotension, Hepatitis, Infectious encephalitis, Arrhythmia, Pancreatitis, Myocarditis, Endocardi... |
ORPHA:549 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, O... |
ORPHA:464321 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:371428 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia |
OMIM:208085 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat... |
ORPHA:90673 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia, Gout |
ORPHA:822 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Glycosuria, Osteomalacia, Hyperbilirubinemia, Increased circulatin... |
OMIM:277900 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hypotension, Septic arthritis, Hepatitis, Fasciitis, Shock, Osteomyelitis, Skin rash, ... |
ORPHA:36234 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
| Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Large vessel vasculitis, Recurrent aphthous stomatitis, Episclerit... |
ORPHA:728 |
| Fetal Cytomegalovirus Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:294 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level |
OMIM:613673 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... |
ORPHA:3202 |
| Classical Ehlers-Danlos Syndrome |
|
Arterial dissection, Aortic root aneurysm, Umbilical hernia, Dilatation of the cerebral artery, A... |
ORPHA:287 |
| Vascular Ehlers-Danlos Syndrome |
|
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... |
ORPHA:286 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... |
OMIM:187300 |
| Autoimmune Hepatitis |
|
Arthritis, Increased total bilirubin |
ORPHA:2137 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Coffin-Siris Syndrome 7 |
|
Recurrent otitis media, Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect |
OMIM:618027 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve |
OMIM:619641 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... |
OMIM:613834 |
| Proteus Syndrome |
|
Sirenomelia, Arteriovenous malformation, Venous malformation |
ORPHA:744 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... |
ORPHA:90674 |
| Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
| Whipple Disease |
|
Hypotension, Gastrointestinal hemorrhage, Uveitis, Infectious encephalitis, Myositis, Arthritis, ... |
ORPHA:3452 |
| Q Fever |
|
Pneumonia, Vasculitis, Hepatitis, Abnormal heart valve morphology, Osteomyelitis, Cholecystitis, ... |
ORPHA:781 |
| Congenital Enterovirus Infection |
|
Hypotension, Hepatitis, Cardiomyopathy, Skin rash, Infectious encephalitis, Myocarditis, Pericard... |
ORPHA:292 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... |
ORPHA:2306 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... |
ORPHA:79124 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Hypoglycemia, Hypocalcemia, Joint hypermobility, Thin bony ... |
OMIM:613658 |
| Rh Deficiency Syndrome |
|
Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood |
OMIM:300908 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:243310 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatin... |
ORPHA:96180 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Mitral regurgitation, M... |
ORPHA:363618 |
| Contractural Arachnodactyly, Congenital |
|
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... |
OMIM:121050 |
| Glycogen Storage Disease Xii |
|
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration |
OMIM:611881 |
| Fructose Intolerance, Hereditary |
|
Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia |
OMIM:229600 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
ORPHA:329224 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:477817 |
| Sickle Cell Anemia |
|
Osteoporosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Ost... |
ORPHA:232 |
| Felty Syndrome |
|
Recurrent pneumonia, Episcleritis, Synovitis, Arthritis, Sinusitis, Rhinitis, Chronic otitis medi... |
ORPHA:47612 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Skin rash, Myositis, Gastritis, Pulmonary arterial hypertension, Ker... |
ORPHA:809 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Erythema nodosum, Arthritis,... |
OMIM:186580 |
| Simple Cryoglobulinemia |
|
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Viral hepatitis, Congestive heart failure, Ab... |
ORPHA:91139 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Mitral regurgitation |
OMIM:617168 |
| Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Type I diabetes mellitus, Hyperbilirubinemia |
OMIM:557000 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Epiphyseal stippling, Camptodactyly, Increased ... |
OMIM:614866 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis... |
ORPHA:93672 |
| Systemic Sclerosis |
|
Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Osteomyelitis, Interstit... |
ORPHA:90291 |
| Truncus Arteriosus |
|
Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Abnormal coronary artery m... |
ORPHA:3384 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve |
OMIM:616367 |
| Adult-Onset Still Disease |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Per... |
ORPHA:829 |
| Behçet Disease |
|
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... |
ORPHA:117 |
| Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... |
ORPHA:91387 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic aortic arch, Patent ductus arteriosus |
ORPHA:2248 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia |
ORPHA:31824 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal ... |
ORPHA:32960 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve |
OMIM:614900 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy... |
ORPHA:99050 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... |
OMIM:610338 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Osteopenia, Hypocholesterolemia, Steatorrhea, Flexion contracture |
OMIM:212065 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Dilated cardiomyopathy, Abnormality of tumor necr... |
ORPHA:3243 |
| Immunodeficiency 22 |
|
Panniculitis, Chronic oral candidiasis, Capillary leak, Pericarditis |
OMIM:615758 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Hyperextensibility of the finger joints |
ORPHA:163979 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:620511 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Abnormal circulating porphyrin concentration, Reduced haptoglobin level, Osteoporosis... |
ORPHA:79277 |
| Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Basal ganglia calcification, Cerebral calcification, Portal hypertension, Chi... |
OMIM:619487 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Abnormal bone ossific... |
ORPHA:79324 |
| Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stom... |
ORPHA:29207 |
| Meacham Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Ventricular septal defect, Bicuspi... |
OMIM:608978 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:100300 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect |
OMIM:616652 |
| Microsporidiosis |
|
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... |
ORPHA:2552 |
| Kawasaki Disease |
|
Vasculitis, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal defect ... |
ORPHA:2331 |
| Caroli Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:480520 |
| Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Esophagitis, Telan... |
ORPHA:3342 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve... |
ORPHA:457279 |
| Zygomycosis |
|
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Nephritis, Hepatitis, Fasciitis, Infectious... |
ORPHA:73263 |
| Reynolds Syndrome |
|
Steatorrhea, Hyperbilirubinemia, Calcinosis |
OMIM:613471 |
| Cranioectodermal Dysplasia 2 |
|
Craniosynostosis, Hyperbilirubinemia, Joint hypermobility |
OMIM:613610 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Skin rash, Maculopapular exanthema, Bradycardia, Myocarditis, Subconjunctival... |
ORPHA:319213 |
| Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Erythema nodosum, Tachycardia, Epididymitis, Diffuse alveolar hemorrhage, Bund... |
ORPHA:99827 |
| Isolated Biliary Atresia |
|
Xanthelasma, Conjugated hyperbilirubinemia |
ORPHA:30391 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:619720 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
| Shigellosis |
|
Pneumonia, Hypovolemic shock, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctiv... |
ORPHA:810 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Maternal diabetes |
OMIM:300855 |
| Giant Cell Arteritis |
|
Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ... |
ORPHA:397 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Premature osteoarthritis, Mitral regurgitation, Mitral valve prolapse, Bicu... |
OMIM:611962 |
| Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Bicuspid aortic valve, Allergic conjunctivitis, Allergic rhinitis |
OMIM:176690 |
| X Small Rings |
|
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect |
ORPHA:96201 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Conjugated hyperbilirubinemia |
OMIM:208500 |
| Listeriosis |
|
Pneumonia, Arteritis, Septic arthritis, Congestive heart failure, Osteomyelitis, Pyelonephritis, ... |
ORPHA:533 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
