Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Abnormal aortic ... |
ORPHA:449400 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Aortic aneurysm |
OMIM:614980 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... |
OMIM:619656 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection |
OMIM:619825 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection |
OMIM:618496 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Aortic aneurysm |
OMIM:612422 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Takayasu Arteritis |
|
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation |
ORPHA:3287 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic ... |
OMIM:614816 |
Temtamy Syndrome |
|
Aortic aneurysm |
OMIM:218340 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava, Aortic aneurysm |
ORPHA:477817 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Aortic aneurysm |
OMIM:620070 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Rin2 Syndrome |
|
Aortic aneurysm |
ORPHA:217335 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:908 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Hyperuricemia |
ORPHA:3222 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... |
OMIM:175050 |
Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... |
ORPHA:3342 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... |
OMIM:619657 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... |
OMIM:610168 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm |
ORPHA:115 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular dilatation, Aortic a... |
ORPHA:1900 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Monosomy 18Q |
|
Choreoathetosis, Left aortic arch with right descending aorta and right ductus arteriosus, Patent... |
ORPHA:1600 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... |
ORPHA:99050 |
Macs Syndrome |
|
Dilation of Virchow-Robin spaces, Aortic aneurysm |
OMIM:613075 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Giant Cell Arteritis |
|
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... |
ORPHA:397 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
OMIM:130720 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Fixed Subaortic Stenosis |
|
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:3092 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
Seckel Syndrome 10 |
|
Abdominal aortic aneurysm, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation |
OMIM:619910 |
Epidermal Nevus Syndrome |
|
Aortic aneurysm |
ORPHA:35125 |
Cardiac Valvular Dysplasia 2 |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation |
OMIM:620067 |
Alkaptonuria |
|
Coronary artery calcification, Aortic aneurysm |
OMIM:203500 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... |
OMIM:613795 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology |
ORPHA:63 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Patent ductus arteriosus |
OMIM:620327 |
Chromosome 18Q Deletion Syndrome |
|
Tremor, Ascending tubular aorta aneurysm, Patent ductus arteriosus |
OMIM:601808 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... |
ORPHA:60030 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm |
ORPHA:109 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aortic aneurysm |
ORPHA:2990 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Elevated circulating creatine kinase concentration, Thoracic aortic an... |
ORPHA:365 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aortic root aneurysm, St... |
ORPHA:536467 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm |
OMIM:166200 |
Loeys-Dietz Syndrome 1 |
|
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... |
OMIM:609192 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Vascular tortuosity |
OMIM:219100 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Aortic aneurysm |
OMIM:182212 |
Aicardi-Goutières Syndrome |
|
Tremor, Calcification of the aorta, Aortic aneurysm, Dystonia, Moyamoya phenomenon |
ORPHA:51 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Persistent left superior vena cava |
OMIM:609008 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:96121 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Head titubation, Aortic aneurysm, Dilatation of the cerebral arter... |
OMIM:619475 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Cherry red s... |
ORPHA:845 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Aortic aneurysm |
ORPHA:261330 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Transposition of the great arteries, Elevated circulating creatine ... |
OMIM:253800 |
Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm |
OMIM:309520 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotransposition of the g... |
OMIM:270100 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesio... |
ORPHA:363618 |
Marfan Syndrome |
|
Descending aortic dissection, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm... |
ORPHA:558 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Dilatation of the cerebral artery, Aortic dissecti... |
ORPHA:284984 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracerebral hemorrhage, Aortic aneurysm |
ORPHA:536545 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:268800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Aortic aneurysm |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Aortic aneurysm |
ORPHA:352665 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial dissection, Aortic aneurysm |
ORPHA:666 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Thoracic aortic aneurysm |
OMIM:619351 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... |
ORPHA:90348 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Intraventricular hemorrhage, Aortic aneurysm |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Aortic aneurysm |
ORPHA:363958 |
Larsen Syndrome |
|
Aortic aneurysm |
OMIM:150250 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... |
OMIM:208050 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm |
ORPHA:3093 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:453499 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Autosomal Dominant Polycystic Kidney Disease |
|
Dilatation of the cerebral artery, Aortic root aneurysm, Elevated circulating creatinine concentr... |
ORPHA:730 |
Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Patent ductus arteriosus, ... |
ORPHA:99094 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... |
ORPHA:286 |
Cap Myopathy |
|
Aortic root aneurysm |
ORPHA:171881 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm |
OMIM:301039 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Prominent superficial veins, Aortic aneurysm |
OMIM:612289 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm |
ORPHA:404443 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle |
OMIM:616652 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:444072 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Ascending tubular aorta aneurysm |
ORPHA:536471 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Neonatal Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm |
ORPHA:284979 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... |
OMIM:619472 |
Tuberous Sclerosis Complex |
|
Aortic aneurysm, Pulmonary lymphangiomyomatosis |
ORPHA:805 |
Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Aortic disse... |
OMIM:154700 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm |
OMIM:130000 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Coarctation of aorta |
OMIM:617602 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, Transpo... |
OMIM:612474 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Contractural Arachnodactyly, Congenital |
|
Patent ductus arteriosus, Aortic root aneurysm |
OMIM:121050 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Tremor, Patent ductus arteriosus, Athetosis... |
ORPHA:280633 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Vasculitis, Double outlet right ventricle with subpulmonary ven... |
ORPHA:2331 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... |
OMIM:614437 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm |
OMIM:145420 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Aortic r... |
ORPHA:536532 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic root aneurysm, Pe... |
OMIM:617506 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... |
ORPHA:42775 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Blau Syndrome |
|
Large vessel vasculitis, Aortic aneurysm |
ORPHA:90340 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm |
ORPHA:449291 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm |
ORPHA:230851 |
Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm |
OMIM:610443 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm |
OMIM:616914 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Dystonia |
OMIM:618891 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm |
OMIM:135500 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Ascending tubular aorta aneurysm |
OMIM:617403 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Ascending aortic dissection |
OMIM:615582 |
Sotos Syndrome |
|
Tremor, Patent ductus arteriosus, Hypercalcemia, Aortic aneurysm |
ORPHA:821 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke, Vas... |
ORPHA:90324 |
Williams Syndrome |
|
Aortic arch aneurysm, Overriding aorta, Hypercalcemia, Elevated circulating creatine kinase conce... |
ORPHA:904 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm |
OMIM:245600 |
Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Persistent left superior vena cava, Aortic root aneurysm, Coarctation o... |
ORPHA:2745 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Aortic root aneurysm, Aortopulmonary collateral arteries, Aortopulmo... |
OMIM:620025 |
Restrictive Dermopathy |
|
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries |
ORPHA:1662 |
X Small Rings |
|
Aortic root aneurysm |
ORPHA:96201 |
Charge Syndrome |
|
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot, Interrupted aortic arch |
ORPHA:138 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection |
ORPHA:285 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... |
ORPHA:99413 |
Turner Syndrome |
|
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... |
ORPHA:881 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Coarctation of aorta, Gastrointestinal angiodysplasia, Aortic dissection, A... |
ORPHA:99226 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron, Patent ductus arteriosus, Anomalous origin of... |
ORPHA:438213 |
Au-Kline Syndrome |
|
Aortic root aneurysm |
OMIM:616580 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:1606 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm |
ORPHA:444077 |
Classical Ehlers-Danlos Syndrome |
|
Arterial dissection, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fistula |
ORPHA:287 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Patent ductus arteriosus, Exaggerated startle response |
OMIM:619522 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Patent ductus arteriosus, Aortic root aneurysm, Tetralogy of Fallot |
OMIM:607872 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
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OMIM:618061 |