Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
Diabetic Embryopathy |
|
Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of F... |
ORPHA:1926 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... |
ORPHA:1120 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Catel-Manzke Syndrome |
|
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Camptodactyly, Ventricular septal ... |
OMIM:616145 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Prolonged bleeding time,... |
ORPHA:90308 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... |
OMIM:132900 |
Arterial Tortuosity Syndrome |
|
High palate, Telangiectases of the cheeks, Aortic valve stenosis, Congenital diaphragmatic hernia... |
OMIM:208050 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Coarctation of aorta, Anteriorly placed anus, Ethmoidal encephalocele |
ORPHA:280195 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Hypoplastic left heart, Sudden cardiac death, Arrhythmia, Pulmon... |
ORPHA:991 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Ab... |
ORPHA:1166 |
Coarctation Of Aorta |
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Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
Phaver Syndrome |
|
Myelomeningocele, Camptodactyly of finger, Coarctation of aorta, Pulmonary artery atresia, Ventri... |
ORPHA:2876 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Muscle fiber atrophy, High, narrow palate, EMG: myopathic abnormalities, Arterial dissection, Abn... |
ORPHA:1900 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Cleft palate, Ventricular septal defect, Intrauterine growth retardation, Ab... |
ORPHA:2516 |
Aortic Aneurysm, Familial Thoracic 9 |
|
High palate, Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral val... |
OMIM:616166 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Anal atresia, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Coarctat... |
OMIM:264480 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Pyloric stenosi... |
ORPHA:363705 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... |
ORPHA:99050 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, Coarctation of... |
OMIM:618454 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect,... |
OMIM:306955 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Fg Syndrome Type 1 |
|
High palate, Anal atresia, Hydrocephalus, Malrotation of colon, Atrial septal defect, Coarctation... |
ORPHA:93932 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Skeletal muscle atrophy, Coarctation of aorta, Atrial septal defect |
OMIM:614300 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic lef... |
ORPHA:251071 |
Mosaic Trisomy 16 |
|
Abnormal heart morphology, Single coronary artery origin, Atrial septal defect, Coarctation of ao... |
ORPHA:1708 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta |
ORPHA:101028 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Congenital diaphragmatic hernia, Abnormal aortic morphology, Umbilical hernia |
ORPHA:1001 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta, Cleft palate, Atrial septal defect |
OMIM:615502 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Hydrocephalus, Congenital diaphragmatic hernia, Intestinal a... |
ORPHA:2162 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Cleft palate, Pulmonic stenosis, Intestina... |
ORPHA:3426 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, High, narrow palate, Cleft palate, Coarctation of aorta, Spina bifida occu... |
ORPHA:2780 |
Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... |
OMIM:135580 |
Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, Hypoplastic le... |
OMIM:301022 |
Mucopolysaccharidosis Type 2 |
|
Abnormal pulmonary valve morphology, Peripheral arterial stenosis, Abnormal mitral valve morpholo... |
ORPHA:580 |
Methimazole Embryofetopathy |
|
Intrauterine growth retardation, Tracheoesophageal fistula, Coarctation of aorta, Ventricular sep... |
ORPHA:1923 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... |
ORPHA:231160 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... |
ORPHA:980 |
Fanconi Anemia |
|
High palate, Abnormal cardiac septum morphology, Arteriovenous malformation, Hydrocephalus, Cleft... |
ORPHA:84 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal pulmonary valve morphology, Peripheral arterial stenosis, Abnormal mitral valve morpholo... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal pulmonary valve morphology, Peripheral arterial stenosis, Abnormal mitral valve morpholo... |
ORPHA:217093 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Aortic rupture, Tricuspid regurgitation, Cleft soft palate, Mitral regurgitation, Type 1 muscle f... |
OMIM:614557 |
Aneurysm-Osteoarthritis Syndrome |
|
High palate, Cleft palate, Pulmonic stenosis, Left ventricular hypertrophy, Camptodactyly of fing... |
ORPHA:284984 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Ventricular septal defect, Abnormal tricuspid valve morphol... |
ORPHA:3405 |
Loeys-Dietz Syndrome 2 |
|
Hydrocephalus, Cleft palate, Pulmonary artery aneurysm, Aortic root aneurysm, Umbilical hernia, A... |
OMIM:610168 |
Loeys-Dietz Syndrome 3 |
|
High palate, Tortuous cerebral arteries, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage... |
OMIM:613795 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Intestinal malrotation, Bifid tongue, Bilateral cleft lip and palate, Pat... |
ORPHA:2001 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Hiatus hernia, Abnormal carotid artery morphology, Hy... |
ORPHA:3342 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Periventricular heterotopia, Tricuspid regurgitation, Atrioventricular canal defect,... |
OMIM:618929 |
Opitz Gbbb Syndrome |
|
High palate, Anal atresia, Ectopic anus, Atrial septal defect, Congenital diaphragmatic hernia, C... |
ORPHA:2745 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... |
ORPHA:391665 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta, Atrial septal de... |
OMIM:614857 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Marfan Syndrome |
|
High, narrow palate, Cleft palate, Aortic tortuosity, Ascending aortic dissection, Arterial disse... |
ORPHA:558 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Atrioventricular canal defect, High... |
ORPHA:2409 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Aortic aneurysm, Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular ma... |
OMIM:130090 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Transaldolase Deficiency |
|
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:606003 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Single ventricle, Diaph... |
OMIM:601186 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, High palate, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration o... |
OMIM:614816 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal pulmonary valve morphology, Ectopic anus, Atrial septal defect, Camptodactyly of finger,... |
ORPHA:1507 |
Buschke-Ollendorff Syndrome |
|
Generalized limb muscle atrophy, Hypertension, Abnormal aortic morphology, Flexion contracture |
ORPHA:1306 |
Jacobsen Syndrome |
|
Ectopic anus, Duodenal atresia, Aortic valve stenosis, Hypoplastic left heart, Intestinal malrota... |
ORPHA:2308 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Ventricular septal defect, Umbilical hernia, Microcolon, Intrauterin... |
OMIM:600001 |
Fryns Syndrome |
|
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Aganglionic megacolo... |
ORPHA:2059 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Aortic valve stenosi... |
ORPHA:2306 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... |
ORPHA:96147 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Hardikar Syndrome |
|
Atrial septal defect, Hematemesis, Hypertension, Intestinal malrotation, Coarctation of aorta, Ve... |
OMIM:301068 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, ... |
ORPHA:508498 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Intestinal obstruction, Abno... |
ORPHA:449400 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Congenital diaphragmatic hernia, Intestinal malr... |
OMIM:617602 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Congenital Disorder Of Glycosylation, Type It |
|
Cleft palate, Sudden cardiac death, Tachycardia, Coarctation of aorta, Bifid uvula, Ventricular s... |
OMIM:614921 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia, Coarctation of ao... |
OMIM:300514 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
Noonan Syndrome 2 |
|
Mitral stenosis, High palate, Atrial septal defect, Atrioventricular canal defect, Pulmonic steno... |
OMIM:605275 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Polymicrogyria, Camptodactyly, Aortic dissection, Vascular dilatation, Varicose veins, Abnormal h... |
OMIM:618343 |
Mosaic Variegated Aneuploidy Syndrome |
|
Duodenal atresia, Atrial septal defect, Cleft palate, Holoprosencephaly, Stomach cancer, Muscular... |
ORPHA:1052 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Anal atresia, Atrial septal defect, Cleft palate, Camptodactyly of finger, Coarc... |
ORPHA:2008 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Atrioventricular canal defect, Coarctation of aorta, Unilateral facial palsy, Bifid ... |
OMIM:619480 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Intrauterine growth retardation, Anal atresia,... |
OMIM:249000 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
Noonan Syndrome 10 |
|
Mitral stenosis, High palate, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrop... |
OMIM:616564 |
Viss Syndrome |
|
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Aortic tortuosity, Pu... |
OMIM:619472 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Robinow Syndrome |
|
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Pulmonic stenosis, Bifid tongue... |
ORPHA:97360 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Hydrocephalus, Cleft palate, Ventricular septal defect, Umbilical hernia, Gast... |
ORPHA:567 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation of aorta, Ventricu... |
OMIM:600987 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Severe intrauterine growth retardation, Duodenal atresia, Atrial septal defect, Coarctation of ao... |
OMIM:614114 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Bifid uvula, Ventricular septal ... |
OMIM:617159 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarcta... |
OMIM:217085 |
Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
Kabuki Syndrome 2 |
|
High palate, Atrial septal defect, Cleft palate, Atrioventricular canal defect, Pulmonic stenosis... |
OMIM:300867 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Cleft palate, Atrioventricular canal defect, Shoulder muscle hypoplasia, Co... |
OMIM:274000 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... |
OMIM:270100 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Macroglossia, Arrhythmia, Coarctation of aorta, Tetralogy of Fallot, Ventr... |
ORPHA:261494 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, High palate, Hypoplastic left heart, Esophageal atresia, Coarctati... |
ORPHA:2209 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Colitis, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveola... |
ORPHA:90068 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of finger, Coarctation of aorta, Pol... |
ORPHA:1692 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High palate, Peripheral pulmonary artery stenosis, Atrial septal defect, Tricuspid regurgitation,... |
OMIM:617506 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Congenital diaphr... |
ORPHA:3097 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Cerebral hemorrhage, Flexion contracture, Arterial dissection, Noncommunicating hy... |
ORPHA:666 |
Phace Association |
|
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... |
OMIM:175050 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Narrow palate, Atrial septal defect, Hypoplastic left heart, Flexion contracture, Cl... |
OMIM:180849 |
Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Aortic valve stenosis, Coarctation of aorta, Pulmonary arterial hyperte... |
ORPHA:2396 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Increased variabi... |
ORPHA:17 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arter... |
ORPHA:286 |
Marfan Syndrome |
|
Tricuspid valve prolapse, High palate, Mitral annular calcification, Bicuspid aortic valve, Narro... |
OMIM:154700 |
Distal Monosomy 15Q |
|
Mitral stenosis, Double outlet right ventricle with doubly committed ventricular septal defect an... |
ORPHA:1596 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... |
ORPHA:99125 |
Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Intrauterine growth retardation, Coarctation of aorta, Umbilical hernia |
OMIM:601358 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Coarctation of aorta, Umbilical hernia, Persistent left superior vena cava,... |
OMIM:136140 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Patent ductus arteriosus, Coarctation of aorta |
OMIM:617260 |
Kaufman Oculocerebrofacial Syndrome |
|
High palate, Atrial septal defect, Intestinal malrotation, Coarctation of aorta, Ventricular sept... |
OMIM:244450 |
Myhre Syndrome |
|
Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Cleft palate, Skelet... |
OMIM:139210 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Stillbirth, Gray matter heterotopia, Atrial septal defect, Flexion contracture, ... |
OMIM:210710 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus, Transient ischemic attack, ... |
OMIM:600268 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Periventricular heterotopia, Atrial septal defect, Cleft palate, Holoprosencephaly... |
OMIM:270400 |
Alport Syndrome |
|
Hypertension, Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm |
ORPHA:63 |
Diamond-Blackfan Anemia 1 |
|
High palate, Atrial septal defect, Cleft palate, Tricuspid stenosis, Coarctation of aorta, Ventri... |
OMIM:105650 |
Generalized Arterial Calcification Of Infancy |
|
Stroke, Medial calcification of medium-sized arteries, Arterial calcification, Hypertension, Calc... |
ORPHA:51608 |
Pallister-Hall Syndrome |
|
Anal atresia, Atrial septal defect, Cleft palate, Holoprosencephaly, Atrioventricular canal defec... |
ORPHA:672 |
8Q24.3 Microdeletion Syndrome |
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Cleft maxillary alveolus, Atrioventricular canal defect, Coarctation of aorta, Spina bifida occul... |
ORPHA:508488 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Pulmonary artery hypoplasia, Ventri... |
OMIM:620025 |
Mycophenolate Mofetil Embryopathy |
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Hydrocephalus, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Coarctation of aorta, ... |
ORPHA:268249 |
Phace Syndrome |
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Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Coarctation of aorta, Tet... |
ORPHA:42775 |
Autosomal Dominant Cutis Laxa |
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Peripheral pulmonary artery stenosis, Mitral regurgitation, Coarctation of aorta, Small bowel div... |
ORPHA:90348 |
Meester-Loeys Syndrome |
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Flexion contracture, Mitral regurgitation, Pulmonary artery aneurysm, Bifid uvula, Camptodactyly,... |
OMIM:300989 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Loeys-Dietz Syndrome |
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High palate, Camptodactyly of finger, Arterial dissection, Bifid uvula, Arterial tortuosity, Aort... |
ORPHA:60030 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Hypoplastic left heart, Rectoperineal fistula, Coarctation of aorta, Tetralogy of Fallot, Ventric... |
OMIM:618748 |
Esophageal Atresia |
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Duodenal atresia, Cleft palate, Barrett esophagus, Intestinal malrotation, Tracheoesophageal fist... |
ORPHA:1199 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Cleft palate, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus... |
OMIM:600460 |
Kabuki Syndrome |
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High palate, Abnormal cardiac septum morphology, Hydrocephalus, Congenital diaphragmatic hernia, ... |
ORPHA:2322 |
17Q11 Microdeletion Syndrome |
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Abnormal heart morphology, Telangiectasia of the skin, Stroke, Abnormal internal carotid artery m... |
ORPHA:97685 |
Craniofacial Microsomia |
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Hydrocephalus, Cleft palate, Hypoplasia of facial musculature, Coarctation of aorta, Tetralogy of... |
OMIM:164210 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... |
ORPHA:99413 |
Turner Syndrome |
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High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... |
ORPHA:881 |
Mosaic Monosomy X |
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High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... |
ORPHA:99228 |
Monosomy X |
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High palate, Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, High, narrow pa... |
ORPHA:99226 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Coarctation of aorta |
OMIM:163200 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Narrow palate, Aortic valve stenosis, Atrial septal defect, Pulmonic steno... |
ORPHA:353281 |
Blackfan-Diamond Anemia |
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High palate, Abnormality of the thenar eminence, Atrial septal defect, Radial artery aplasia, Coa... |
ORPHA:124 |
Ctcf-Related Neurodevelopmental Disorder |
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Atrial septal defect, Cleft palate, Mitral regurgitation, Pulmonary hemorrhage, Coarctation of ao... |
ORPHA:363611 |
Igg4-Related Kidney Disease |
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Arteritis, Sialadenitis, Abnormal aortic morphology, Pericarditis |
ORPHA:449395 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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High palate, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve stenosis,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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High palate, Bicuspid aortic valve, Abnormal subclavian artery morphology, Aortic valve stenosis,... |
ORPHA:353277 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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High palate, Bicuspid aortic valve, Tachycardia, Coarctation of aorta, Muscle hypertrophy of the ... |
ORPHA:1772 |
Alagille Syndrome 1 |
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Peripheral pulmonary artery stenosis, Stroke, Atrial septal defect, Coarctation of aorta, Tetralo... |
OMIM:118450 |
Noonan Syndrome 1 |
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High palate, Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Coarctat... |
OMIM:163950 |
Pallister-Killian Syndrome |
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Anal atresia, Aortic valve stenosis, Congenital diaphragmatic hernia, Flexion contracture, Atrial... |
OMIM:601803 |
Kabuki Syndrome 1 |
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High palate, Anal atresia, Hydrocephalus, Malabsorption, Atrial septal defect, Cleft palate, Inte... |
OMIM:147920 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Aplasia of the epiglottis, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular canal... |
OMIM:617088 |
Floating-Harbor Syndrome |
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Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Persistent left superior vena ca... |
ORPHA:2044 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Periventricular heterotopia, Cleft palate, Pulmonary artery sling, Polymicrogyria, Ventricular se... |
ORPHA:261552 |
Blomstrand Lethal Chondrodysplasia |
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Protruding tongue, Coarctation of aorta |
ORPHA:50945 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Abnormal pulmonary valve morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic v... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Abnormal cardiac septum morphology, Bicuspid aortic valve, Periventricular heterotopia, Aortic va... |
ORPHA:2152 |
Visceral Steatosis, Congenital |
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Myocardial steatosis, Neonatal death |
OMIM:228100 |