Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... |
OMIM:132900 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... |
ORPHA:3400 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia |
OMIM:135580 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect |
OMIM:615297 |
Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Tetralogy of Fallot |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... |
OMIM:618780 |
Tricuspid Atresia |
|
Transposition of the great arteries, Persistent left superior vena cava, Coarctation of aorta, Pu... |
ORPHA:1209 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus |
ORPHA:1455 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Thickened nuchal skin f... |
OMIM:618164 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Abnormality of the pulmonary ... |
ORPHA:1131 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Transposition of the great arteries, Patent ductus arteriosus, Coarctation of aorta, Truncus arte... |
OMIM:612474 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... |
OMIM:217095 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:613854 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Heart murmur, Ventricular se... |
ORPHA:860 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Tricuspid regurgi... |
ORPHA:1120 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal aortic morphology |
ORPHA:3405 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... |
OMIM:610338 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261243 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
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 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Abnormal descending aorta morphology, Anomalous origin of left pulmonary artery from ascending ao... |
ORPHA:99050 |
Transaldolase Deficiency |
|
Anemia, Thrombocytopenia, Coarctation of aorta, Hepatosplenomegaly |
ORPHA:101028 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology |
ORPHA:1166 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Descending thoracic aorta aneury... |
ORPHA:91387 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Polysplenia, Bilateral super... |
OMIM:613751 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... |
ORPHA:453499 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation |
OMIM:130090 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Branchial fistula, Ventricular septal defect, Aortic regurgi... |
ORPHA:261330 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Holoprosencephaly, Short neck, Arrhythmia, Te... |
ORPHA:2162 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Hydrocephalus, Tricuspid regurgitation, Branchial fistula, Ventricular ... |
ORPHA:261337 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology |
ORPHA:3222 |
Methimazole Embryofetopathy |
|
Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Coarctation of the descendin... |
ORPHA:1457 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Ectopia cordis, Cystic hygroma, Patent ductus arteriosus, Transpositi... |
OMIM:313850 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... |
OMIM:617205 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Oligomeganephronia |
|
Branchial cyst, Dehydration, Secundum atrial septal defect |
ORPHA:2260 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Diabetic Embryopathy |
|
Abnormality of the pulmonary artery, Transposition of the great arteries, Tetralogy of Fallot, Ab... |
ORPHA:1926 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Cystic h... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Cystic h... |
ORPHA:352665 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Coarctation of aorta, Patent ductus arteriosus, Neutropenia, Thrombocytopenia, Normochromic anemia |
OMIM:614857 |
Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteriosus, Va... |
OMIM:606519 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Aortic dissecti... |
OMIM:175050 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... |
ORPHA:980 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... |
OMIM:306955 |
Scimitar Syndrome |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Left superior vena cava drainin... |
ORPHA:185 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Coarctation of aorta |
OMIM:614300 |
Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Single coronary artery origin, Double aortic arch, Right aortic ar... |
OMIM:619702 |
Right Atrial Isomerism |
|
Tetralogy of Fallot, Pulmonary artery atresia, Total anomalous pulmonary venous return, Transposi... |
OMIM:208530 |
Transaldolase Deficiency |
|
Splenomegaly, Hepatosplenomegaly, Coarctation of aorta, Patent ductus arteriosus, Pancytopenia, A... |
OMIM:606003 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Treacher-Collins Syndrome |
|
Branchial fistula, Patent ductus arteriosus, Encephalocele |
ORPHA:861 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Accessory spleen, Coarctat... |
OMIM:608978 |
Truncus Arteriosus |
|
Ventricular septal defect, Intrauterine growth retardation, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:392 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
Familial Bicuspid Aortic Valve |
|
Thoracic aorta calcification, Aortic arch aneurysm, Ascending aortic dissection, Coarctation of a... |
ORPHA:402075 |
8P23.1 Microdeletion Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Transposition of the great arteries, Pulmonary art... |
ORPHA:251071 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... |
ORPHA:3426 |
15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261183 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Phaver Syndrome |
|
Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresia |
ORPHA:2876 |
Loeys-Dietz Syndrome 4 |
|
Aortic tortuosity, Arterial tortuosity, Aortic dissection, Aortic root aneurysm, Ascending tubula... |
OMIM:614816 |
Mullegama-Klein-Martinez Syndrome |
|
Coarctation of aorta |
OMIM:301022 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... |
OMIM:618280 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Coarctation of aorta |
ORPHA:284169 |
Catel-Manzke Syndrome |
|
Overriding aorta, Coarctation of aorta |
OMIM:616145 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... |
ORPHA:2255 |
Buschke-Ollendorff Syndrome |
|
Abnormal aortic morphology |
ORPHA:1306 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresia, Paten... |
OMIM:601186 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteri... |
ORPHA:363705 |
Noonan Syndrome 9 |
|
Coarctation of aorta |
OMIM:616559 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short stature, Short neck, Coarctation of aorta, Spina bifida occu... |
ORPHA:508488 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Abnormality of the spleen, Coarctation of aorta, Tetralogy of ... |
ORPHA:3097 |
Fanconi Anemia, Complementation Group B |
|
Thrombocytopenia, Patent ductus arteriosus, Coarctation of aorta, Aplastic anemia |
OMIM:300514 |
Craniofacial Microsomia |
|
Hydrocephalus, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductu... |
OMIM:164210 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Arterial Tortuosity Syndrome |
|
Generalized arterial tortuosity, Aortic tortuosity, Ischemic stroke, Pulmonary artery stenosis |
OMIM:208050 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Vascular dilatation, Varicose veins |
OMIM:618343 |
Arterial Tortuosity Syndrome |
|
Abnormal carotid artery morphology, Aortic dissection, Vascular dilatation, Aortic root aneurysm,... |
ORPHA:3342 |
Loeys-Dietz Syndrome 2 |
|
Carotid artery dilatation, Generalized arterial tortuosity, Pulmonary artery aneurysm, Ascending ... |
OMIM:610168 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot |
OMIM:617159 |
2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology |
ORPHA:1001 |
Fryns Syndrome |
|
Abnormal aortic arch morphology, Abnormal aortic morphology, Tetralogy of Fallot |
ORPHA:2059 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Radial a... |
ORPHA:124 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Aortic a... |
ORPHA:1900 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Tetralogy of Fallot, Coarctation of aorta |
ORPHA:96147 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Aortic dissection, Vasculitis, Double outlet right ventricle with subp... |
ORPHA:397 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery |
OMIM:600460 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Coarctation of aorta |
OMIM:618929 |
Lowry-Maclean Syndrome |
|
Coarctation of aorta |
ORPHA:2409 |
Meester-Loeys Syndrome |
|
Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissection |
OMIM:300989 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... |
ORPHA:99125 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:618454 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary lymphangiectasia, Coarctation of aorta, Tetralogy of Fallot, Misalignment of the pulmon... |
OMIM:265380 |
Alport Syndrome |
|
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm |
ORPHA:63 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Coarctation of aorta |
OMIM:600987 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Coarctation of aorta |
ORPHA:371428 |
Kleefstra Syndrome |
|
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:261494 |
Phace Syndrome |
|
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... |
ORPHA:42775 |
Loeys-Dietz Syndrome |
|
Arterial dissection, Arterial tortuosity, Aortic dissection, Patent ductus arteriosus, Vascular d... |
ORPHA:60030 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Coarctation of aorta |
OMIM:617602 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Leukemia, Patent ductus arteriosus, Coarctation of aorta |
OMIM:605275 |
Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta |
ORPHA:2396 |
Acrocardiofacial Syndrome |
|
Truncus arteriosus, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:2008 |
Fanconi Anemia |
|
Arteriovenous malformation, Abnormal carotid artery morphology, Leukopenia, Tetralogy of Fallot, ... |
ORPHA:84 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coarctation of aorta |
OMIM:163200 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Thoracic aortic aneurysm, Aortic tortuosity, Subarachnoid hemorrhage,... |
OMIM:613795 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Coarctation of aorta |
ORPHA:2780 |
Pagod Syndrome |
|
Pulmonary artery hypoplasia, Abnormality of the spleen, Abnormality of the pulmonary artery, Abno... |
ORPHA:991 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Coarctation of aorta |
OMIM:613426 |
Marfan Syndrome |
|
Aortic tortuosity, Ascending aortic dissection, Arterial dissection, Pulmonary artery dilatation,... |
ORPHA:558 |
Branchiooculofacial Syndrome |
|
Short neck, Branchial anomaly, Postnatal growth retardation, Intrauterine growth retardation, Low... |
OMIM:113620 |
Fg Syndrome Type 1 |
|
Coarctation of aorta |
ORPHA:93932 |
Mosaic Trisomy 1 |
|
Coarctation of aorta, Pulmonary artery atresia |
ORPHA:1692 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Coarctation of aorta, Patent ductus arteriosus, Aortic root... |
OMIM:617506 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:2209 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1052 |
Witteveen-Kolk Syndrome |
|
Short stature, Branchial fistula, Intracranial hemorrhage, Growth delay, Intrauterine growth reta... |
OMIM:613406 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:617260 |
Kabuki Syndrome 2 |
|
Coarctation of aorta |
OMIM:300867 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Coarctation of aorta, Tetralogy of Fallot, Patent... |
OMIM:274000 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Coarctation of aorta, Thrombocytosis, Neutropenia, Thrombocytopeni... |
OMIM:105650 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Aortic ro... |
OMIM:620025 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Coarctation of aorta |
OMIM:614114 |
Pseudotrisomy 13 Syndrome |
|
Coarctation of aorta |
OMIM:264480 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:616564 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Arterial tortuosity, Abdominal aortic aneurysm, Dilatation of the sinus of V... |
ORPHA:284984 |
Opitz Gbbb Syndrome |
|
Persistent left superior vena cava, Patent ductus arteriosus, Aortic root aneurysm, Coarctation o... |
ORPHA:2745 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta |
OMIM:600268 |
Congenital Disorder Of Glycosylation, Type It |
|
Coarctation of aorta |
OMIM:614921 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal aortic morphology, Tetralogy of Fallot |
ORPHA:1507 |
Kaufman Oculocerebrofacial Syndrome |
|
Coarctation of aorta |
OMIM:244450 |
Viss Syndrome |
|
Double outlet right ventricle, Carotid artery dilatation, Tortuous cerebral arteries, Abnormal br... |
OMIM:619472 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Interrupted aortic arch, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:17 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Patent ductus arteriosus, Aortic rupture |
OMIM:614557 |
Mucopolysaccharidosis Type 2, Severe Form |
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Peripheral arterial stenosis, Hepatosplenomegaly, Abnormal aortic morphology, Splenomegaly |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Peripheral arterial stenosis, Hepatosplenomegaly, Abnormal aortic morphology, Splenomegaly |
ORPHA:217093 |
Mosaic Trisomy 16 |
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Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta |
ORPHA:1708 |
Cocaine Intoxication |
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Aortic dissection, Subarachnoid hemorrhage, Cerebral hemorrhage, Ischemic stroke |
ORPHA:90068 |
Mucopolysaccharidosis Type 2 |
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Peripheral arterial stenosis, Abnormal aortic morphology, Splenomegaly |
ORPHA:580 |
Hardikar Syndrome |
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Splenomegaly, Hepatosplenomegaly, Coarctation of aorta, Partial anomalous pulmonary venous return... |
OMIM:301068 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Truncus arteriosus, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:508498 |
Igg4-Related Kidney Disease |
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Eosinophilia, Arteritis, Abnormal aortic morphology |
ORPHA:449395 |
Alagille Syndrome 1 |
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Peripheral pulmonary artery stenosis, Stroke, Coarctation of aorta, Tetralogy of Fallot, Renal ar... |
OMIM:118450 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Coarctation of aorta, Tetralogy of Fallot |
OMIM:618748 |
Mycophenolate Mofetil Embryopathy |
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Coarctation of aorta |
ORPHA:268249 |
Rubinstein-Taybi Syndrome 1 |
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Accessory spleen, Coarctation of aorta, Patent ductus arteriosus, Persistent left superior vena c... |
OMIM:180849 |
Osteogenesis Imperfecta |
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Cerebral hemorrhage, Arterial dissection, Aortic dissection, Aortic root aneurysm, Aortic aneurys... |
ORPHA:666 |
Marfan Syndrome |
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Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Aortic dissection, Aortic root ane... |
OMIM:154700 |
Autosomal Dominant Cutis Laxa |
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Dilatation of the ventricular cavity, Peripheral pulmonary artery stenosis, Coarctation of aorta,... |
ORPHA:90348 |
Meckel Syndrome, Type 1 |
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Splenomegaly, Accessory spleen, Coarctation of aorta, Patent ductus arteriosus, Vascular dilatati... |
OMIM:249000 |
Jacobsen Syndrome |
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Thrombocytopenia, Coarctation of aorta |
ORPHA:2308 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Coarctation of aorta |
OMIM:620066 |
Distal Monosomy 15Q |
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Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... |
ORPHA:1596 |
Esophageal Atresia |
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Coarctation of aorta, Tetralogy of Fallot |
ORPHA:1199 |
Generalized Arterial Calcification Of Infancy |
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Stroke, Medial calcification of medium-sized arteries, Arterial calcification, Calcification of t... |
ORPHA:51608 |
Blomstrand Lethal Chondrodysplasia |
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Coarctation of aorta |
ORPHA:50945 |
Nicolaides-Baraitser Syndrome |
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Coarctation of aorta |
OMIM:601358 |
Myhre Syndrome |
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Patent ductus arteriosus, Coarctation of aorta |
OMIM:139210 |
Vascular Ehlers-Danlos Syndrome |
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Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac and mesenteric vessels, Pulmon... |
ORPHA:286 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Patent ductus arteriosus, Coarctation of aorta, Splenomegaly |
OMIM:617088 |
Kabuki Syndrome |
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Coarctation of aorta |
ORPHA:2322 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... |
ORPHA:99413 |
Turner Syndrome |
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Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... |
ORPHA:881 |
Mosaic Monosomy X |
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Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... |
ORPHA:99228 |
Monosomy X |
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Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissection, Gastrointesti... |
ORPHA:99226 |
Smith-Lemli-Opitz Syndrome |
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Patent ductus arteriosus, Coarctation of aorta, Splenomegaly |
OMIM:270400 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Coarctation of aorta, Tetralogy of Fallot |
OMIM:210710 |
17Q11 Microdeletion Syndrome |
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Stroke, Abnormal internal carotid artery morphology, Coarctation of aorta, Dilatation of the cere... |
ORPHA:97685 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Patent ductus arteriosus, Coarctation of aorta |
OMIM:619480 |
Robinow Syndrome |
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Coarctation of aorta |
ORPHA:97360 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Patent ductus arteriosus, Coa... |
OMIM:163950 |
Ctcf-Related Neurodevelopmental Disorder |
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Patent ductus arteriosus, Coarctation of aorta |
ORPHA:363611 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Coarctation of aorta |
ORPHA:1772 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Vascular ring, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:353281 |
Floating-Harbor Syndrome |
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Persistent left superior vena cava, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:2044 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Vascular ring, Abnormal subclavian artery morphology, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Vascular ring, Abnormal subclavian artery morphology, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:353277 |
Floating-Harbor Syndrome |
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Persistent left superior vena cava, Coarctation of aorta |
OMIM:136140 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Autoimmune thrombocytopenia, Coarctation of aorta |
OMIM:147920 |
Pallister-Hall Syndrome |
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Patent ductus arteriosus, Coarctation of aorta |
ORPHA:672 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Pulmonary artery sling, Coarctation of aorta, Tetralogy of Fallot, Abnormality of the pulmonary a... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Pulmonary artery sling, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Abno... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Pulmonary artery sling, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Aspl... |
ORPHA:2152 |
Pallister-Killian Syndrome |
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Patent ductus arteriosus, Coarctation of aorta |
OMIM:601803 |
Left Ventricular Noncompaction 7 |
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Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |