Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... |
OMIM:615436 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Moyamoya Disease 5 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm |
OMIM:614042 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... |
OMIM:611788 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... |
OMIM:132900 |
Distal Trisomy 14Q |
|
Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:1705 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary art... |
ORPHA:3400 |
Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus |
OMIM:615297 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1296 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Arterial fibromuscular dysplasia |
OMIM:135580 |
Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Tetralogy of Fallot |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Aortopulmonary collateral arteries, Tetralogy of Fallot, Double aortic arch, P... |
OMIM:618780 |
Tricuspid Atresia |
|
Persistent left superior vena cava, Transposition of the great arteries, Coarctation of aorta, Pu... |
ORPHA:1209 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal heart morphology, Double outlet right ventricle, Coarctation of aorta, Cystic hygroma, P... |
OMIM:618164 |
Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm |
ORPHA:1455 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Right aortic arch with mirror image branching, Pulmonary artery atresia |
OMIM:606217 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Transposition of the great arteries, Coarctation of aorta, Truncus arteriosus, Patent ductus arte... |
OMIM:612474 |
X-Linked Mandibulofacial Dysostosis |
|
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... |
ORPHA:1131 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Truncus arteriosus, Transposition of the gre... |
OMIM:217095 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, Torticollis, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:249670 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Fixed Subaortic Stenosis |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
Hypertelorism And Tetralogy Of Fallot |
|
Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, S... |
OMIM:239711 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Total anomalous pulmonary venous return, Coarctation of aorta, Hyp... |
OMIM:613854 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Levotransposition of the great arteries, Patent ductus arterios... |
ORPHA:860 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:601612 |
Coronary Arterial Fistula |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal EKG, Aortic valve stenosis, Ab... |
ORPHA:2041 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Coarctati... |
ORPHA:1120 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Igg4-Related Aortitis |
|
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... |
ORPHA:449400 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Familial Cerebral Saccular Aneurysm |
|
Aortic dissection, Abnormal circle of Willis morphology, Cerebral berry aneurysm, Aortic root ane... |
ORPHA:231160 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Anemia |
ORPHA:3405 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... |
OMIM:610338 |
Partial Atrioventricular Septal Defect |
|
Syncope, Bicuspid aortic valve, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Cardiac Diverticulum |
|
Syncope, Bicuspid aortic valve, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Pa... |
ORPHA:1686 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Patent d... |
OMIM:612938 |
16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261243 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Pulmonary artery stenosis, Severe postnatal growth retardation |
ORPHA:435938 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Transaldolase Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Coarctation of aorta, Anemia |
ORPHA:101028 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal aortic arch morphology, Abnormal descending aorta morphology, Arteria lusoria, Aortopulm... |
ORPHA:99050 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetralogy of Fallot |
ORPHA:1166 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm |
OMIM:130090 |
Grange Syndrome |
|
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... |
ORPHA:79094 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine ... |
ORPHA:453499 |
Craniofacial Microsomia |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Branchial anomaly, Hyd... |
OMIM:164210 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation, Short stature, Gr... |
ORPHA:261330 |
Holoprosencephaly |
|
Ventricular septal defect, Abnormal aortic morphology, Holoprosencephaly, Branchial anomaly, Hydr... |
ORPHA:2162 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic dissection, Abdominal aortic aneurysm, Descending thoracic aorta aneurysm, Mucoid extracel... |
ORPHA:91387 |
Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolapse, Tricuspid re... |
ORPHA:261337 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology |
ORPHA:3222 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Coarctation of aorta |
ORPHA:1923 |
Aorta Coarctation |
|
Hypertension, Bicuspid aortic valve, Coarctation of the descending aortic arch, Pulmonary arteria... |
ORPHA:1457 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Patent ductus arteriosus... |
ORPHA:1880 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Cardiomyopathy, Dilated, 1S |
|
Coarctation of aorta, Pulmonary artery hypoplasia |
OMIM:613426 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Dehydration |
ORPHA:2260 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Coarctation of aorta, Neutropenia |
OMIM:614857 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Conotruncal defect, Abnormal cardiac ventricle morphology, Abnormal aortic... |
ORPHA:2306 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Mental Retardation, Autosomal Dominant 21 |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:615502 |
Phace Association |
|
Coarctation of aorta, Anomalous branches of internal carotid artery, Patent ductus arteriosus, Ao... |
OMIM:606519 |
Diabetic Embryopathy |
|
Transposition of the great arteries, Abnormal aortic morphology, Abnormality of the pulmonary art... |
ORPHA:1926 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Thoracic aortic aneury... |
OMIM:613834 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Cystic... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Cystic... |
ORPHA:352665 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Mitral valve prolapse, Hydrocephalus, Umbilical hernia, Patent ductus arteriosus |
OMIM:104350 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Growth... |
ORPHA:980 |
Scimitar Syndrome |
|
Interrupted inferior vena cava with azygous continuation, Truncus arteriosus, Left superior vena ... |
ORPHA:185 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus |
ORPHA:2001 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta |
OMIM:614300 |
Transaldolase Deficiency |
|
Coarctation of aorta, Anemia, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Pancyto... |
OMIM:606003 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
Right Atrial Isomerism |
|
Asplenia, Total anomalous pulmonary venous return, Transposition of the great arteries, Aortopulm... |
OMIM:208530 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal ... |
ORPHA:2248 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Aortic dissection, Anemia, Pulmonary arteriovenous malformation, Aortic aneurysm, Hepatic arterio... |
OMIM:175050 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
Truncus Arteriosus |
|
Truncus arteriosus, Patent ductus arteriosus, Pulmonary artery stenosis, Interrupted aortic arch,... |
ORPHA:3384 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retar... |
OMIM:600001 |
Double Outlet Right Ventricle |
|
Truncus arteriosus, Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pul... |
ORPHA:3426 |
Familial Bicuspid Aortic Valve |
|
Ascending aortic dissection, Coarctation of aorta, Thoracic aorta calcification, Aortic arch aneu... |
ORPHA:402075 |
8P23.1 Microdeletion Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus, Transposition of the great arteries, Tetral... |
ORPHA:251071 |
Treacher-Collins Syndrome |
|
Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
Holt-Oram Syndrome |
|
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:392 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Coarctation of aorta |
OMIM:600987 |
Phaver Syndrome |
|
Coarctation of aorta, Pulmonary artery atresia, Hypoplastic aortic arch |
ORPHA:2876 |
Loeys-Dietz Syndrome 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Arterial tortuosity, Aortic root aneurysm, A... |
OMIM:614816 |
Mullegama-Klein-Martinez Syndrome |
|
Coarctation of aorta |
OMIM:301022 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... |
OMIM:618280 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Meacham Syndrome |
|
Persistent left superior vena cava, Coarctation of aorta, Patent ductus arteriosus, Cardiac total... |
OMIM:608978 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261183 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... |
ORPHA:2255 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Coarctation of aorta, Patent ductus arteriosus |
ORPHA:284169 |
Catel-Manzke Syndrome |
|
Coarctation of aorta, Overriding aorta |
OMIM:616145 |
Thoracoabdominal Syndrome |
|
Ectopia cordis, Anencephaly, Cystic hygroma, Patent ductus arteriosus, Transposition of the great... |
OMIM:313850 |
Buschke-Ollendorff Syndrome |
|
Abnormal aortic morphology |
ORPHA:1306 |
Eisenmenger Syndrome |
|
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... |
ORPHA:97214 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Coarctation of aorta, Right aortic arch with mirror image branching, Patent d... |
OMIM:601186 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Complete atrioventricular canal defect, Ventricular septal defect, Truncus arteri... |
ORPHA:508488 |
Meacham Syndrome |
|
Abnormality of the spleen, Conotruncal defect, Coarctation of aorta, Patent ductus arteriosus, Tr... |
ORPHA:3097 |
Noonan Syndrome 9 |
|
Coarctation of aorta |
OMIM:616559 |
Craniofaciofrontodigital Syndrome |
|
Coarctation of aorta, Anomalous branches of internal carotid artery, Patent ductus arteriosus, Pr... |
ORPHA:363705 |
Fanconi Anemia, Complementation Group B |
|
Thrombocytopenia, Aplastic anemia, Patent ductus arteriosus, Coarctation of aorta |
OMIM:300514 |
Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Descending thoracic aorta aneurysm, ... |
OMIM:610168 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Varicose veins, Vascular dilatation |
OMIM:618343 |
Homozygous Familial Hypercholesterolemia |
|
Coronary artery aneurysm, Cerebral artery atherosclerosis, Premature coronary artery atherosclero... |
ORPHA:391665 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... |
OMIM:270100 |
Arterial Tortuosity Syndrome |
|
Aortic dissection, Abnormal carotid artery morphology, Aortic root aneurysm, Aortic aneurysm, Vas... |
ORPHA:3342 |
2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology |
ORPHA:1001 |
Vater/Vacterl Association |
|
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Patent ductus arterio... |
OMIM:192350 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Fryns Syndrome |
|
Abnormal aortic arch morphology, Abnormal aortic morphology, Tetralogy of Fallot |
ORPHA:2059 |
Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Generalized arterial tortuosity, Aortic tortuosity |
OMIM:208050 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Absent pulmonary artery |
OMIM:600460 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Aortic dissection, Abnormal venous morphology, Arterial dissection, Aortic aneurysm, Vascular dil... |
ORPHA:1900 |
Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Vasculitis, Double outlet right ventricle with subp... |
ORPHA:397 |
Sifrim-Hitz-Weiss Syndrome |
|
Coarctation of aorta, Tetralogy of Fallot |
OMIM:617159 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:96147 |
Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic dissection, Dilatation of the cerebral artery |
OMIM:300989 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Low-output congestive heart failure, Single ventricle,... |
ORPHA:99125 |
Lowry-Maclean Syndrome |
|
Coarctation of aorta |
ORPHA:2409 |
Alport Syndrome |
|
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm |
ORPHA:63 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Coarctation of aorta |
OMIM:618929 |
Phace Syndrome |
|
Aortic root aneurysm, Coarctation of aorta, Tetralogy of Fallot, Abnormal carotid artery morpholo... |
ORPHA:42775 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Coarctation of aorta |
ORPHA:371428 |
Loeys-Dietz Syndrome |
|
Aortic dissection, Arterial tortuosity, Patent ductus arteriosus, Aortic aneurysm, Arterial disse... |
ORPHA:60030 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:618454 |
Kleefstra Syndrome |
|
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261494 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Coarctation of aorta |
OMIM:617602 |
Fanconi Anemia |
|
Abnormal aortic morphology, Leukopenia, Arteriovenous malformation, Anemia, Patent ductus arterio... |
ORPHA:84 |
Noonan Syndrome 2 |
|
Leukemia, Abnormal coronary artery origin, Coarctation of aorta, Patent ductus arteriosus |
OMIM:605275 |
Acrocardiofacial Syndrome |
|
Coarctation of aorta, Truncus arteriosus, Tetralogy of Fallot |
ORPHA:2008 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta |
ORPHA:2396 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Coarctation of aorta |
ORPHA:2780 |
Pagod Syndrome |
|
Abnormality of the spleen, Abnormal aortic morphology, Abnormality of the pulmonary artery, Pulmo... |
ORPHA:991 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Interrupted aortic arch, Pulmonary lymphangiectasia, Pulmonary artery dilatation, Asplenia, Persi... |
OMIM:265380 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coarctation of aorta |
OMIM:163200 |
Marfan Syndrome |
|
Dilatation of an abdominal artery, Ascending tubular aorta aneurysm, Pulmonary artery dilatation,... |
ORPHA:558 |
Branchiooculofacial Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Postnatal growth retardation, Low posterior h... |
OMIM:113620 |
Loeys-Dietz Syndrome 3 |
|
Aortic dissection, Abdominal aortic aneurysm, Tortuous cerebral arteries, Dilatation of the sinus... |
OMIM:613795 |
Mosaic Trisomy 1 |
|
Coarctation of aorta, Pulmonary artery atresia |
ORPHA:1692 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Patent ductus arteriosus |
OMIM:614557 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Coarctation of aorta, Anemia, Hepatosplenomegaly, Tetralogy of Fallot, Thrombocytop... |
OMIM:274000 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:617260 |
Fg Syndrome Type 1 |
|
Coarctation of aorta |
ORPHA:93932 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:2209 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Coarctation of aorta, Patent ductus a... |
OMIM:617506 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1052 |
Kabuki Syndrome 2 |
|
Coarctation of aorta |
OMIM:300867 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Pseudotrisomy 13 Syndrome |
|
Coarctation of aorta |
OMIM:264480 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic dissection, Abdominal aortic aneurysm, Dilatation of the sinus of Valsalva, Arterial tortu... |
ORPHA:284984 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Coarctation of aorta |
OMIM:614114 |
Noonan Syndrome 10 |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:616564 |
Congenital Disorder Of Glycosylation, Type It |
|
Coarctation of aorta |
OMIM:614921 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Coarctation of aorta, Patent ductus arteriosus, Splenomegaly |
OMIM:617088 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:17 |
Opitz Gbbb Syndrome |
|
Persistent left superior vena cava, Aortic root aneurysm, Coarctation of aorta, Patent ductus art... |
ORPHA:2745 |
Kaufman Oculocerebrofacial Syndrome |
|
Coarctation of aorta |
OMIM:244450 |
Meckel Syndrome, Type 1 |
|
Asplenia, Coarctation of aorta, Patent ductus arteriosus, Splenomegaly, Accessory spleen, Vascula... |
OMIM:249000 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Abnormal aortic morphology, Peripheral arterial stenosis, Splenomegaly |
ORPHA:217085 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal aortic morphology, Tetralogy of Fallot |
ORPHA:1507 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Abnormal aortic morphology, Peripheral arterial stenosis, Splenomegaly |
ORPHA:217093 |
Viss Syndrome |
|
Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Left aortic arch with retroesophagea... |
OMIM:619472 |
Mucopolysaccharidosis Type 2 |
|
Abnormal aortic morphology, Peripheral arterial stenosis, Splenomegaly |
ORPHA:580 |
Oculoectodermal Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:600268 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Coarctation of aorta, Truncus arteriosus, Tetralogy of Fallot |
ORPHA:508498 |
Mosaic Trisomy 16 |
|
Coarctation of aorta, Single coronary artery origin, Patent ductus arteriosus |
ORPHA:1708 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Abnormal aortic morphology, Arteritis |
ORPHA:449395 |
Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta |
ORPHA:268249 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Coarctation of aorta, Tetralogy of Fallot |
OMIM:618748 |
Alagille Syndrome 1 |
|
Coarctation of aorta, Tetralogy of Fallot, Renal artery stenosis, Peripheral pulmonary artery ste... |
OMIM:118450 |
Jacobsen Syndrome |
|
Thrombocytopenia, Coarctation of aorta |
ORPHA:2308 |
Marfan Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissection, Pulmonary artery dilat... |
OMIM:154700 |
Hardikar Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Hypersplenism, ... |
OMIM:301068 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Coarctation of aorta, Peripheral pulmonary artery stenosis,... |
ORPHA:90348 |
Osteogenesis Imperfecta |
|
Aortic dissection, Aortic root aneurysm, Arterial dissection, Aortic aneurysm, Thrombocytopenia |
ORPHA:666 |
Distal Monosomy 15Q |
|
Abnormal aortic arch morphology, Coarctation of aorta, Double outlet right ventricle with doubly ... |
ORPHA:1596 |
Opitz Gbbb Syndrome, Type Ii |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:145410 |
Blomstrand Lethal Chondrodysplasia |
|
Coarctation of aorta |
ORPHA:50945 |
Esophageal Atresia |
|
Coarctation of aorta, Tetralogy of Fallot |
ORPHA:1199 |
Cocaine Intoxication |
|
Aortic dissection |
ORPHA:90068 |
Myhre Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:139210 |
Smith-Lemli-Opitz Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:270400 |
Floating-Harbor Syndrome |
|
Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Kabuki Syndrome |
|
Coarctation of aorta |
ORPHA:2322 |
Vascular Ehlers-Danlos Syndrome |
|
Arteriovenous fistula, Pulmonary artery aneurysm, Ascending tubular aorta aneurysm, Aortic dissec... |
ORPHA:286 |
Generalized Arterial Calcification Of Infancy |
|
Aortic dissection, Arterial calcification, Coronary artery calcification, Medial calcification of... |
ORPHA:51608 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:619480 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm |
ORPHA:99413 |
Turner Syndrome |
|
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm |
ORPHA:881 |
Mosaic Monosomy X |
|
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm |
ORPHA:99228 |
Monosomy X |
|
Aortic dissection, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm |
ORPHA:99226 |
Robinow Syndrome |
|
Coarctation of aorta |
ORPHA:97360 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Coarctation of aorta, Tetralogy of Fallot |
OMIM:210710 |
Noonan Syndrome 1 |
|
Patent ductus arteriosus, Coarctation of aorta, Juvenile myelomonocytic leukemia, Amegakaryocytic... |
OMIM:163950 |
17Q11 Microdeletion Syndrome |
|
Cerebral artery stenosis, Leukemia, Abnormal internal carotid artery morphology, Coarctation of a... |
ORPHA:97685 |
Ctcf-Related Neurodevelopmental Disorder |
|
Coarctation of aorta, Patent ductus arteriosus |
ORPHA:363611 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Coarctation of aorta |
ORPHA:1772 |
Floating-Harbor Syndrome |
|
Persistent left superior vena cava, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:2044 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Vascular ring, Coarctation of aorta, Patent ductus arteriosus |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Vascular ring, Coarctation of aorta, Abnormal subclavian artery morphology, Patent ductus arteriosus |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Vascular ring, Coarctation of aorta, Abnormal subclavian artery morphology, Patent ductus arteriosus |
ORPHA:353277 |
Kabuki Syndrome 1 |
|
Autoimmune thrombocytopenia, Hemolytic anemia, Coarctation of aorta |
OMIM:147920 |
Pallister-Hall Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
ORPHA:672 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Coarctation of aorta, Abnormality of the pulmonary artery, Tetralogy of Fallot, Pulmona... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Coarctation of aorta, Patent ductus arteriosus, Abnormality of the pulmonary artery, Te... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Asplenia, Coarctation of aorta, Patent ductus arteriosus, Tetralogy of Fallot, Pulmonary artery s... |
ORPHA:2152 |
Pallister-Killian Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus |
OMIM:601803 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |