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 |
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 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 |
|
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 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... |
ORPHA:3400 |
Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Abnormal common carotid artery morphology,... |
ORPHA:449400 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm |
OMIM:616166 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus |
ORPHA:1455 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation |
OMIM:130090 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Thoracic aortic aneurysm, Aortic arch aneurysm, Pulmonary artery... |
OMIM:613834 |
Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Aortic aneurysm |
OMIM:614980 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Stroke, Arterial fibromuscular dysplasia |
OMIM:135580 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Descending thoracic aorta aneury... |
ORPHA:91387 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... |
OMIM:619656 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Marfanoid Hypermobility Syndrome |
|
Aortic aneurysm |
OMIM:154750 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Ascending aortic dissection, Aortic root aneurysm |
OMIM:619825 |
Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Tricuspid Atresia |
|
Transposition of the great arteries, Persistent left superior vena cava, Coarctation of aorta, Pu... |
ORPHA:1209 |
Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... |
OMIM:618780 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Coronary artery atherosclerosis, Aortic arch aneurysm, Aortic root aneurysm, Abdominal aortic ane... |
OMIM:617168 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteriosus, Va... |
OMIM:606519 |
Takayasu Arteritis |
|
Ascending tubular aorta aneurysm, Arterial stenosis, Vascular dilatation, Vasculitis |
ORPHA:3287 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... |
OMIM:217095 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:613854 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm |
OMIM:618496 |
Temtamy Syndrome |
|
Aortic aneurysm |
OMIM:218340 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Aortic tortuosity, Arterial tortuosity, Aortic dissection, Aortic root aneurysm, Asc... |
OMIM:614816 |
Rin2 Syndrome |
|
Aortic aneurysm |
ORPHA:217335 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Persistent left superior vena cava, Overriding aorta, Aortic aneurysm |
ORPHA:477817 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:908 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Hyperuricemia |
ORPHA:3222 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Aortic dissecti... |
OMIM:175050 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Thoracic aortic aneurysm, Dextr... |
OMIM:619657 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
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 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm |
ORPHA:115 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Aortic a... |
ORPHA:1900 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
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 |
Macs Syndrome |
|
Dilation of Virchow-Robin spaces, Aortic aneurysm |
OMIM:613075 |
Monosomy 18Q |
|
Aortic aneurysm, Choreoathetosis, Patent ductus arteriosus, Left aortic arch with right descendin... |
ORPHA:1600 |
Tay-Sachs Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... |
OMIM:610338 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Aortic dissection, Vasculitis, Double outlet right ventricle with subp... |
ORPHA:397 |
Fixed Subaortic Stenosis |
|
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:3092 |
Alkaptonuria |
|
Coronary artery calcification, Aortic aneurysm |
OMIM:203500 |
Cardiac Valvular Dysplasia 2 |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation |
OMIM:620067 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Arterial tortuosity, Pulmonary artery dilatation, Aortic aneurysm, Gen... |
OMIM:614437 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Thoracic aortic aneurysm, Aortic tortuosity, Subarachnoid hemorrhage,... |
OMIM:613795 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Epidermal Nevus Syndrome |
|
Aortic aneurysm |
ORPHA:35125 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Intracranial hemorrhage, Aortic aneurysm |
ORPHA:109 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm |
OMIM:166200 |
Loeys-Dietz Syndrome |
|
Arterial dissection, Arterial tortuosity, Aortic dissection, Patent ductus arteriosus, Vascular d... |
ORPHA:60030 |
Alport Syndrome |
|
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm |
ORPHA:63 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Transposition of the great arteries, Cerebral cavernous malformation, Aortic root aneurysm |
OMIM:619910 |
Familial Bicuspid Aortic Valve |
|
Thoracic aorta calcification, Aortic arch aneurysm, Ascending aortic dissection, Coarctation of a... |
ORPHA:402075 |
Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Tremor, Patent ductus arteriosus |
OMIM:601808 |
Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Abdominal aortic aneurysm |
OMIM:617253 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Vascular tortuosity |
OMIM:219100 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Thoracic aortic aneurysm, Abnormal internal carotid artery morphology, Elevated circulating creat... |
ORPHA:365 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aortic aneurysm |
ORPHA:2990 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Ascending aortic dissection, Arterial tortuosity, Patent ductus arteri... |
OMIM:609192 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:96121 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Stroke, Thoracic aortic aneurysm, Aortic root aneurysm, Ascending tubular aorta aneu... |
ORPHA:536467 |
Aicardi-Goutières Syndrome |
|
Calcification of the aorta, Tremor, Moyamoya phenomenon, Aortic aneurysm, Dystonia |
ORPHA:51 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Aortic aneurysm |
OMIM:182212 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Aortic aneurysm |
ORPHA:261330 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Hyperbilirubinemia, Intention tremor, Head titubation, Dilatation ... |
OMIM:619475 |
Marfanoid Habitus With Situs Inversus |
|
Persistent left superior vena cava, Aortic root aneurysm |
OMIM:609008 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... |
OMIM:617205 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm |
OMIM:309520 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Intracranial hemorrhage, Hypertriglyceridemia, Aortic root aneurys... |
ORPHA:363618 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Marfan Syndrome |
|
Aortic tortuosity, Ascending aortic dissection, Arterial dissection, Pulmonary artery dilatation,... |
ORPHA:558 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Dextrotransposition of the great arteries, Coarctation of aorta, P... |
OMIM:270100 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Aortic aneurysm, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral hemorrhage |
ORPHA:536545 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
|
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Increased serum ... |
ORPHA:845 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Arterial tortuosity, Abdominal aortic aneurysm, Dilatation of the sinus of V... |
ORPHA:284984 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Transposition of the great arteries, Elevated circulating creatine kinase concentration, Exaggera... |
OMIM:253800 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Peripheral pulmonary artery stenosis, Coarctation of aorta,... |
ORPHA:90348 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Aortic aneurysm |
ORPHA:453504 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Aortic aneurysm |
ORPHA:352665 |
Larsen Syndrome |
|
Aortic aneurysm |
OMIM:150250 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Single coronary artery origin, Double aortic arch, Right aortic ar... |
OMIM:619702 |
Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Arterial dissection, Aortic dissection, Aortic root aneurysm, Aortic aneurysm |
ORPHA:666 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Thoracic aortic aneurysm |
OMIM:619351 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm |
ORPHA:3093 |
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 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Dilatation of the cerebral artery, Aortic root ane... |
ORPHA:730 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Peripheral arteriovenous fistula, Arteriovenous fistulas of celiac and mesenteric ve... |
ORPHA:286 |
Laubry-Pezzi Syndrome |
|
Ascending tubular aorta aneurysm, Dilatation of the sinus of Valsalva, Patent ductus arteriosus, ... |
ORPHA:99094 |
Sandhoff Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:268800 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:453499 |
Cap Myopathy |
|
Aortic root aneurysm |
ORPHA:171881 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Carotid artery stenosis, Prominent superficial veins, Aortic root aneurysm |
OMIM:618000 |
Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Prominent superficial veins, Aortic aneurysm |
OMIM:612289 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm |
OMIM:301039 |
Neonatal Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm |
ORPHA:284979 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm |
ORPHA:444072 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Tatton-Brown-Rahman Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm |
ORPHA:404443 |
Viss Syndrome |
|
Double outlet right ventricle, Carotid artery dilatation, Tortuous cerebral arteries, Abnormal br... |
OMIM:619472 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Aortic dissection, Aortic root ane... |
OMIM:154700 |
Tuberous Sclerosis Complex |
|
Pulmonary lymphangiomyomatosis, Aortic aneurysm |
ORPHA:805 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Prominent scalp veins |
ORPHA:536471 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm |
OMIM:130000 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Prominent veins on trunk, Hypertriglyceridemia, Aortic root aneurysm, Carotid artery stenosis, Va... |
ORPHA:536532 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Cherry red spot of the macula |
ORPHA:79255 |
Contractural Arachnodactyly, Congenital |
|
Patent ductus arteriosus, Aortic root aneurysm |
OMIM:121050 |
Phace Syndrome |
|
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Abnormal cerebral ... |
ORPHA:42775 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Peripheral pulmonary artery stenosis, Elevated alpha-fetoprotein, Athetosis, Tremor, Patent ductu... |
ORPHA:280633 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm |
OMIM:145420 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm |
ORPHA:449291 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Coarctation of aorta, Patent ductus arteriosus, Aortic root... |
OMIM:617506 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Vasculitis, Double outlet right ventricle with subpulmonary ven... |
ORPHA:2331 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Blau Syndrome |
|
Large vessel vasculitis, Aortic aneurysm |
ORPHA:90340 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm |
ORPHA:230851 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Dystonia |
OMIM:618891 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm |
OMIM:616914 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm |
OMIM:135500 |
Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm |
OMIM:610443 |
Cockayne Syndrome Type 3 |
|
Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Intention tremor, Aortic ... |
ORPHA:90324 |
Sotos Syndrome |
|
Tremor, Patent ductus arteriosus, Hypercalcemia, Aortic aneurysm |
ORPHA:821 |
Williams Syndrome |
|
Peripheral pulmonary artery stenosis, Stroke, Abnormal circulating lipid concentration, Abnormal ... |
ORPHA:904 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Aortic ro... |
OMIM:620025 |
Loeys-Dietz Syndrome 5 |
|
Ascending aortic dissection, Aortic root aneurysm |
OMIM:615582 |
Opitz Gbbb Syndrome |
|
Persistent left superior vena cava, Patent ductus arteriosus, Aortic root aneurysm, Coarctation o... |
ORPHA:2745 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm |
OMIM:245600 |
Restrictive Dermopathy |
|
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries |
ORPHA:1662 |
X Small Rings |
|
Aortic root aneurysm |
ORPHA:96201 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... |
ORPHA:99413 |
Turner Syndrome |
|
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... |
ORPHA:99228 |
Monosomy X |
|
Hyperlipidemia, Arterial dissection, Coarctation of aorta, Aortic arch aneurysm, Aortic dissectio... |
ORPHA:99226 |
Charge Syndrome |
|
Aortic arch aneurysm, Interrupted aortic arch, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:138 |
Hypermobile Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Arterial dissection, Venous insufficiency |
ORPHA:285 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:1606 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron, Patent ductus arteriosus, Anomalous origin of... |
ORPHA:438213 |
Non-Specific Syndromic Intellectual Disability |
|
Pulmonary artery dilatation, Aortic root aneurysm |
ORPHA:528084 |
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 |
|
Patent ductus arteriosus, Exaggerated startle response |
OMIM:619522 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Patent ductus arteriosus, Aortic root aneurysm, Tetralogy of Fallot |
OMIM:607872 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
|
OMIM:618061 |