Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous fistula, Arteriovenous malformation |
OMIM:608354 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Arterial Dissection-Lentiginosis Syndrome |
|
Arterial dissection, Arteriovenous malformation |
ORPHA:1682 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Patent ductus arteriosus, Weak grip, Distal amyotrophy, Distal uppe... |
OMIM:619519 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... |
ORPHA:229 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... |
ORPHA:60041 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Edema, Venous insufficiency, Patent ductus arteriosus, Hydrops ... |
ORPHA:90308 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosi... |
OMIM:249670 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Edema |
ORPHA:624 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology, Intrauterine growt... |
ORPHA:1110 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Sub... |
ORPHA:53719 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula |
ORPHA:141179 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula |
ORPHA:141184 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Blue Rubber Bleb Nevus |
|
Arteriovenous malformation |
ORPHA:1059 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... |
ORPHA:97339 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,... |
ORPHA:137667 |
Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation |
ORPHA:2875 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Intrauterine growth ... |
OMIM:616276 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Frontal encephalocele, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Hydrops fetalis, Arteriovenous malformation, Umbilical hernia, Ascites |
ORPHA:584 |
Melorheostosis |
|
Peripheral arteriovenous fistula, Lymphedema |
ORPHA:2485 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Tetralogy of Fallot, Arteriovenous malformati... |
ORPHA:974 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... |
ORPHA:363705 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformation, Intrauterine growth reta... |
ORPHA:1556 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Arteriovenous malformation |
ORPHA:702 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,... |
ORPHA:185 |
Congenital Myopathy 11 |
|
Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Weakness of facial musculature, P... |
OMIM:619967 |
Currarino Syndrome |
|
Arteriovenous malformation |
ORPHA:1552 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... |
OMIM:620070 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
Pentasomy X |
|
Short stature, Camptodactyly of finger, Patent ductus arteriosus, Abnormal cardiac septum morphol... |
ORPHA:11 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Arteriovenous malformation |
ORPHA:60040 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Hypertrophic ca... |
OMIM:618775 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... |
OMIM:606519 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... |
ORPHA:568051 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Short stature |
OMIM:618330 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Atrial septal defect, Patent ... |
OMIM:619189 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Foix-Alajouanine Syndrome |
|
Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Lymphedema, Intracranial hemorrhage, Arteriovenous malformation, Aortic aneurysm |
ORPHA:109 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Pulmonary lymphangiectasia, ... |
ORPHA:2136 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... |
OMIM:601927 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Growth delay, Pleural effusion... |
ORPHA:90362 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Polyhydramnios, Patent ductus arteriosus, Flexi... |
OMIM:616867 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Small vessel vasculitis, Pleur... |
ORPHA:36412 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Takayasu Arteritis |
|
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Hypertension, Ascendin... |
ORPHA:3287 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Desc... |
ORPHA:91387 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Fanconi Anemia |
|
Short stature, Spina bifida, Patent ductus arteriosus, Growth delay, Intrauterine growth retardat... |
ORPHA:84 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Hereditary Hemorrhagic Telangiectasia |
|
Peripheral arteriovenous fistula, Transient ischemic attack, Cerebral hemorrhage, Abnormal cerebr... |
ORPHA:774 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm |
ORPHA:98892 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Klippel-Trenaunay-Weber Syndrome |
|
Arteriovenous fistula, Lymphedema |
OMIM:149000 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Patent ductus arteriosus, A... |
ORPHA:1120 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of ... |
OMIM:608978 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction |
OMIM:616501 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Patent ductus arteriosus, Hypoplastic left heart, Short stature |
OMIM:617661 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Patent ductus arteriosus, Hypoplastic left heart |
ORPHA:1972 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Short stature, Polyhydramnios, Patent ductus arteriosus, Pleural effus... |
OMIM:615355 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Postnatal growth retardation, Patent ductus arteriosus, Abnormal cardiac v... |
ORPHA:2306 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Short stature, Patent ductus a... |
OMIM:619657 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch |
OMIM:107550 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... |
ORPHA:980 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Chronic Intestinal Pseudoobstruction |
|
Patent ductus arteriosus |
ORPHA:2978 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly, Atrial septal defect, Intrauter... |
OMIM:614846 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pedal edema, Abnormal pulmonary vein morphology, Pleural effusion, Pulmonar... |
ORPHA:199241 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... |
ORPHA:99050 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Abnormal venous mor... |
ORPHA:79452 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhyd... |
OMIM:616843 |
Superficial Siderosis |
|
Abnormal vertebral artery morphology, Arteriovenous malformation, Subarachnoid hemorrhage |
ORPHA:247245 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Coronary artery calcification, Congestive heart failure, Carotid artery ca... |
OMIM:208000 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... |
ORPHA:536532 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Mit... |
ORPHA:1900 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Pulmonary arteriovenous fistulas, Pleural empyema, Ischemic stroke, Ba... |
ORPHA:2038 |
Classic Homocystinuria |
|
Intracranial hemorrhage, Arteriovenous malformation |
ORPHA:394 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Proteus Syndrome |
|
Venous malformation |
OMIM:176920 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arteriosus, Flexion contrac... |
OMIM:616866 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Intrauterine growth reta... |
OMIM:619487 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Abnormal vascular morphology, Pericardial effusion... |
ORPHA:781 |
Microphthalmia, Syndromic 9 |
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Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Congenital ... |
OMIM:601186 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal coronary artery course, Proportionate short stature, Patent d... |
ORPHA:488618 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation, Edema |
ORPHA:75508 |
Congenital Disorder Of Glycosylation, Type Ia |
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Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-like episode, Cardio... |
OMIM:212065 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Pedal edema, Growth delay, Delayed puberty, Abnormal myocardium morphology,... |
ORPHA:77259 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Juvenile Polyposis Syndrome |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
OMIM:617822 |
Ebstein Malformation Of The Tricuspid Valve |
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Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
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Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Pericardial effusion, Postnatal growth retardation, Patent ductus ar... |
ORPHA:1272 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Atrial Septal Defect 1 |
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Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Pleural effusion, Epidural hemorrhage, Abnormal lymphatic vessel morphology |
ORPHA:464329 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Choroidal neovascularization, Angina pe... |
OMIM:264800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Myhre Syndrome |
|
Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosus, Coarcta... |
OMIM:139210 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Patent ductus ar... |
OMIM:602782 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri... |
ORPHA:90186 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Heterotaxy, Visceral, 5, Autosomal |
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Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... |
OMIM:270100 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Shor... |
OMIM:605275 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Short stature, Patent ductus arteriosus, Increased nuchal translucency... |
OMIM:616564 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
Alg9-Cdg |
|
Ventricular septal defect, Rhizomelia, Pericardial effusion, Hydrops fetalis, Abnormal heart morp... |
ORPHA:79328 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Marfanoid Habitus With Situs Inversus |
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Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:2905 |
Enlarged Parietal Foramina |
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Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Classical Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Joint swelling, Dilatation of the cerebral artery, Aortic root aneurysm, A... |
ORPHA:287 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... |
OMIM:600001 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Vasculitis, Intrauterine growth retardation, Hypertrophic cardiomyop... |
OMIM:615846 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu... |
ORPHA:2637 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Angina pectoris, Type IV atherosclerotic lesion, Tendon xanthomatosi... |
ORPHA:412 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... |
OMIM:600142 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... |
ORPHA:286 |
Kaposi Sarcoma |
|
Venous insufficiency, Lymphedema |
ORPHA:33276 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Thymic Carcinoma |
|
Abnormal vena cava morphology, Palpebral edema, Edema |
ORPHA:99868 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy |
ORPHA:300751 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... |
ORPHA:51608 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Anomalous pulmonary ... |
ORPHA:244 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Predominantly lower limb lymphedema |
ORPHA:33001 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ... |
ORPHA:2255 |
Proteus Syndrome |
|
Sirenomelia, Arteriovenous malformation, Lymphedema |
ORPHA:744 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Short stature, Intrauterine growth reta... |
ORPHA:166035 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:187300 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Atrial septal defect, Aortic v... |
OMIM:267010 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Abnormal vena cava morpholo... |
ORPHA:163956 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Neonatal death, Atrial septal de... |
OMIM:620244 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencephaly, Transposition of the grea... |
OMIM:313850 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612541 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Umbilical hernia, Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductus arteriosus, ... |
ORPHA:96191 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation |
OMIM:618343 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Peripheral edema, Abnor... |
ORPHA:1677 |
Hyperoxaluria, Primary, Type I |
|
Choroidal neovascularization, Retinal crystals, Optic neuropathy, Raynaud phenomenon, Arterial oc... |
OMIM:259900 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction |
OMIM:618620 |
Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
ORPHA:167 |
Gitelman Syndrome |
|
Pericardial effusion, Varicose veins, Delayed puberty |
ORPHA:358 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ... |
ORPHA:565612 |
Familial Thrombocytosis |
|
Transient ischemic attack, Peripheral arterial stenosis, Syncope, Cerebral ischemia, Pulmonary ar... |
ORPHA:71493 |
Grange Syndrome |
|
Coronary artery stenosis, Renal artery stenosis, Renovascular hypertension, Carotid artery stenosis |
OMIM:602531 |
Livedoid Vasculopathy |
|
Abnormal capillary morphology, Venous insufficiency, Pedal edema, Varicose veins, Ischemic stroke |
ORPHA:542643 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... |
ORPHA:100991 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Hypercholesterolemia, Familial, 1 |
|
Tendon xanthomatosis, Coronary artery atherosclerosis |
OMIM:143890 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct... |
ORPHA:141127 |
Clapo Syndrome |
|
Varicose veins, Venous malformation, Lymphedema |
ORPHA:168984 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition |
OMIM:125310 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Peri... |
ORPHA:580 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Polyhydramnios, Ret... |
ORPHA:567 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... |
OMIM:175050 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... |
ORPHA:99125 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... |
ORPHA:217085 |
Knobloch Syndrome 2 |
|
Encephalocele, Retinal detachment, Vitreous floaters, Patent ductus arteriosus, Vitreoretinopathy |
OMIM:618458 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho... |
ORPHA:217093 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty |
ORPHA:91347 |
Erythrocytosis, Familial, 2 |
|
Varicose veins, Stroke, Cerebral hemorrhage |
OMIM:263400 |
Crimean-Congo Hemorrhagic Fever |
|
Pericardial effusion, Myocarditis, Ascites, Subdural hemorrhage |
ORPHA:99827 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop... |
ORPHA:31150 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Hypovolemia, Peripheral arterial stenosis, Elevated diast... |
ORPHA:90041 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction |
OMIM:615812 |
Renal Nutcracker Syndrome |
|
Varicose veins, Vulval varicose vein, Renal artery stenosis, Dilatation of mesenteric artery |
ORPHA:71273 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:600376 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins, Torticollis |
OMIM:314300 |
Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Prominent veins on trunk |
ORPHA:97289 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins |
OMIM:617107 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Venous malformation, Spinal dysraphism |
OMIM:612918 |
Proteus-Like Syndrome |
|
Venous insufficiency |
ORPHA:2969 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... |
ORPHA:500095 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology |
ORPHA:276280 |
Sitosterolemia 1 |
|
Coronary artery atherosclerosis, Carotid artery stenosis |
OMIM:210250 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
H Syndrome |
|
Short stature, Upper eyelid edema, Varicose veins, Delayed puberty, Camptodactyly |
ORPHA:168569 |
Williams Syndrome |
|
Myocardial infarction, Abnormal cerebral vascular morphology, Spina bifida occulta, Overriding ao... |
ORPHA:904 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Prominent superficial veins, Skeletal muscle atrophy, Telang... |
ORPHA:79474 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, Growth delay,... |
ORPHA:2072 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Hypertension, Arterial stenosis, Chorioretinal coloboma |
ORPHA:636 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Short stature, Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation of... |
OMIM:130050 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Camptodactyly of 2nd-5th fingers, Short stature |
ORPHA:1106 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... |
ORPHA:285 |
Occipital Horn Syndrome |
|
Venous insufficiency, Vascular dilatation |
ORPHA:198 |
Pmm2-Cdg |
|
Pericarditis, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Anasarca, Hypertrophic c... |
ORPHA:79318 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
Norrie Disease |
|
Venous insufficiency, Delayed puberty |
ORPHA:649 |
Aplasia Cutis Congenita |
|
Facial palsy, Spinal dysraphism |
ORPHA:1114 |