Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... |
OMIM:619657 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... |
OMIM:314390 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Dextrocardia, Intestinal malrotation, Meningocele, Duodenal stenosis, Abnormal tric... |
ORPHA:1759 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... |
OMIM:208540 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Gastroesophageal reflux, Dextrocardia, Polysplenia |
OMIM:615482 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... |
OMIM:217085 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Asplenia... |
OMIM:270100 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy, Polysplenia |
OMIM:613807 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Dextrocardia |
|
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... |
ORPHA:1666 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormality of the pancreas, Cleft palate, Spinal dysraphism, Abnormal... |
ORPHA:1926 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Sple... |
OMIM:619418 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... |
OMIM:264480 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t... |
OMIM:600001 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An... |
ORPHA:1335 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, High palate, Dextrocardia, Anal atresia |
ORPHA:2863 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Vascular dilatation, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymu... |
OMIM:613177 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... |
OMIM:265380 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
High palate, Hypoplastic left heart, Polysplenia |
OMIM:610543 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Hypoplastic left heart, P... |
OMIM:220210 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia... |
ORPHA:251071 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septal defect,... |
ORPHA:3304 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, High palate, Transposi... |
OMIM:201000 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Duodenal atresia, Abnormal aortic morphology, Abnormal tricuspid valve... |
ORPHA:3405 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... |
OMIM:620005 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Paten... |
OMIM:618316 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... |
OMIM:617877 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Patent ductus arteriosus, Dysplastic tricuspid valve, Submucous cleft hard p... |
OMIM:612863 |
Distal Duplication 17Q |
|
Accessory spleen, High palate, Cleft palate, Abnormal heart morphology |
ORPHA:3379 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Intestinal malrotation, Malformation of the hepatic du... |
OMIM:249000 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula... |
OMIM:614294 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Meckel Syndrome |
|
Encephalocele, Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv... |
ORPHA:564 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul... |
OMIM:300972 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia |
OMIM:618063 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Ververi-Brady Syndrome |
|
High palate, Transposition of the great arteries |
OMIM:617982 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... |
OMIM:613686 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of the great arteries, Ectopia... |
OMIM:313850 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum, Complete atrioventricular canal... |
OMIM:617925 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Rubinstein-Taybi Syndrome 1 |
|
High, narrow palate, Aortic isthmus hypoplasia, Hepatic hemangioma, High palate, Gastroesophageal... |
OMIM:180849 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... |
OMIM:615382 |
Carpenter Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Polysplenia |
ORPHA:65759 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia |
OMIM:606763 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts |
OMIM:613095 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Isolated Dandy-Walker Malformation |
|
Encephalocele, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atr... |
OMIM:243605 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... |
OMIM:277380 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... |
ORPHA:90308 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, D... |
OMIM:617063 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... |
OMIM:253800 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Abnormal cardia... |
ORPHA:2315 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... |
OMIM:614886 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... |
ORPHA:1667 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia, Coarctation of aorta |
OMIM:618929 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... |
OMIM:115470 |
Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615444 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Holoprosencephaly 11 |
|
Cleft palate, Polysplenia |
OMIM:614226 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Spina bifida, Asplenia,... |
ORPHA:99776 |
Hamamy Syndrome |
|
Microcytic anemia, Complete atrioventricular canal defect, High palate, Hypochromic anemia, Atria... |
OMIM:611174 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Cleft palate |
ORPHA:2257 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, High palate |
ORPHA:476126 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Intestinal polyposis, Atrioventricular canal defect, Tricuspid valve pr... |
ORPHA:276413 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,... |
OMIM:236680 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Megarectum, Leukopenia, P... |
OMIM:301056 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... |
ORPHA:2209 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... |
ORPHA:261197 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... |
OMIM:616652 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... |
OMIM:612946 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... |
ORPHA:2326 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... |
OMIM:249270 |
Faciocardiorenal Syndrome |
|
Cleft palate, Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Abnormal heart morphology, Aplasia/Hypoplasia of the gallbladd... |
ORPHA:96092 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val... |
OMIM:609942 |
Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse, Pulmonic stenosis, S... |
OMIM:151100 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, At... |
ORPHA:371428 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular... |
ORPHA:508488 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malrotation, High, narrow... |
ORPHA:7 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology |
ORPHA:2412 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus,... |
OMIM:613610 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Anteriorly placed anus, Lymphopenia, Thrombocytop... |
OMIM:618624 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... |
OMIM:229850 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Malrotation of small bowel, Biliary tract abnormalit... |
OMIM:194190 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Pyloric stenosis, Anal atresia |
OMIM:618419 |
Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... |
OMIM:609008 |
Distal Deletion 19P |
|
Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hernia, Pulmonary va... |
ORPHA:96129 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Marden-Walker Syndrome |
|
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... |
OMIM:248700 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, High palate, Hypoplasia of the thymus, Atrioventricular canal defect, Median ... |
ORPHA:40366 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Tracheoesophageal fistula, High palate, Spina bifid... |
ORPHA:2437 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Fanconi Anemia, Complementation Group W |
|
Polysplenia, Duodenal atresia |
OMIM:617784 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... |
ORPHA:3474 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cleft palate, Abdominal situs inversus, Pulmonic stenosis, A... |
OMIM:619123 |
Distal Duplication 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Lymphangioma |
ORPHA:1571 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic... |
OMIM:616166 |
Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Left ventricular noncompaction ca... |
OMIM:611878 |
Proteus Syndrome |
|
Lymphangioma, Splenomegaly, Venous malformation |
OMIM:176920 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Patent ductus arteriosus, Narrow palate, Cleft palate, T lymphocytopenia, ... |
OMIM:618223 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ventricular septal defect, Patent ductus arteriosus, Frontal encephalocele, Bil... |
OMIM:268300 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Mediastinal lymphadenopathy, Vasculitis, Gastrointestinal infarctions, A... |
ORPHA:397 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Leuk... |
ORPHA:2331 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Alagille Syndrome 2 |
|
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin... |
ORPHA:391641 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Anteriorly placed anus, Ebstein anomaly of the tricuspid valve, Rectovaginal fistula |
OMIM:608980 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatoblastoma, Atrial septal defect, Hepatomegaly, Exaggerated median tongue furrow, Patent duct... |
OMIM:312870 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Isolated Splenogonadal Fusion |
|
Ectopia of the spleen, Polysplenia |
ORPHA:457083 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... |
OMIM:301043 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect |
OMIM:617364 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Splenomegaly, High, narrow palate, Cleft... |
ORPHA:373 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot |
OMIM:613630 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Neutropenia, ... |
ORPHA:163956 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... |
ORPHA:33276 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Esophageal atresia, Patent duct... |
OMIM:192350 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Ascending tu... |
ORPHA:1662 |
Neonatal Marfan Syndrome |
|
High, narrow palate, Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubu... |
ORPHA:284979 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of... |
OMIM:620305 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnor... |
ORPHA:485405 |
Charge Syndrome |
|
Secundum atrial septal defect, Atrial septal defect, Pulmonary artery atresia, Aplasia/Hypoplasia... |
OMIM:214800 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis |
OMIM:608644 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Cleft pa... |
ORPHA:1724 |
Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, High, narrow palate, Pyloric stenosis, Midgut malrotation, C... |
ORPHA:2409 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Cleft palate, Stillbirth, Tran... |
OMIM:256520 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Patent ductus arteriosus, Narrow palat... |
OMIM:614976 |
Prune Belly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Atrial septal defect... |
ORPHA:2970 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... |
ORPHA:100078 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis |
OMIM:620032 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... |
OMIM:616145 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Gastroesophageal reflux, Atrioventricular canal defect, High palate, Anal atresia |
OMIM:613792 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... |
ORPHA:2461 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Cleft... |
ORPHA:1908 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatic steatosis, Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertensi... |
OMIM:619503 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Heterotaxy, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:618846 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Abdominal situs ambiguus |
OMIM:617092 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Macroglossia, High palate... |
ORPHA:261337 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa... |
OMIM:602782 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Multilobulated sple... |
OMIM:601186 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Syndromic Diarrhea |
|
Hepatomegaly, Lymphopenia, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Hep... |
ORPHA:84064 |
Renpenning Syndrome |
|
Heterotaxy, Cleft palate, High, narrow palate, Anal atresia |
ORPHA:3242 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr... |
OMIM:249420 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He... |
OMIM:612541 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Spina bifida occulta, Mitra... |
ORPHA:500 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... |
OMIM:619573 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus |
OMIM:614874 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Submu... |
OMIM:300166 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Abnormal left ventricle... |
ORPHA:466791 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... |
OMIM:619472 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Umbilical hernia, High, narrow palate, Tricuspid valve prolapse |
ORPHA:1101 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, Tracheoesophageal fistula, Aortic aneurysm, Mitral valve prolapse, High p... |
ORPHA:115 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
Marfan Syndrome |
|
Bicuspid aortic valve, Mitral annular calcification, Narrow palate, Mitral valve prolapse, Ascend... |
OMIM:154700 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, High palate, Umbil... |
ORPHA:536545 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect... |
ORPHA:100079 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Atrioventricular canal defect, Ectopic anus, Cleft palate |
ORPHA:2549 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral stenosis |
OMIM:614185 |
Classical Ehlers-Danlos Syndrome |
|
Hiatus hernia, Rectal prolapse, Mitral valve prolapse, Dilatation of the cerebral artery, Aortic ... |
ORPHA:287 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cleft palate, Mitral valve prolapse, High palate, Tricuspi... |
OMIM:601776 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis |
OMIM:614017 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B... |
ORPHA:3310 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Turnpenny-Fry Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, High palate, Gastroesophageal reflux, Tricuspid ... |
OMIM:618371 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Gast... |
ORPHA:453499 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis |
OMIM:612518 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed anus, Bone ma... |
OMIM:615272 |
Melnick-Needles Syndrome |
|
Cleft palate, Stillbirth, Tricuspid valve prolapse, Mitral valve prolapse |
OMIM:309350 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Mitral valve prolapse, Aortic dissection, Arterial dissection, Umbilical her... |
ORPHA:1900 |
Kabuki Syndrome 2 |
|
Cleft palate, Coarctation of aorta, High palate, Pulmonic stenosis, Atrial septal defect, Atriove... |
OMIM:300867 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, Tricuspid valv... |
ORPHA:2556 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Lymphangioma, Arteriovenous malformation |
ORPHA:137608 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Venou... |
ORPHA:60015 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Cleft palate, Ectopic... |
ORPHA:2473 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... |
ORPHA:1677 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy |
ORPHA:99868 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Cleft palate, Coarctation of aorta, Atrial septal def... |
ORPHA:2008 |
Congenital Tricuspid Stenosis |
|
Tricuspid stenosis, Bacterial endocarditis |
ORPHA:95459 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Limb Body Wall Complex |
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Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Cleft pala... |
ORPHA:2369 |
Lymphatic Malformation 7 |
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Pericardial effusion, Atrial septal defect, Anemia, Varicose veins |
OMIM:617300 |
Absence Of The Pulmonary Artery |
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Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
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Protruding tongue, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac septu... |
ORPHA:96147 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
Poland Syndrome |
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Encephalocele, Dextrocardia, Acute leukemia, Abnormality of the liver, Atrial septal defect, Spin... |
ORPHA:2911 |
Trichohepatoenteric Syndrome 1 |
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Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Large p... |
OMIM:222470 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Gabriele-De Vries Syndrome |
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Oral-pharyngeal dysphagia, Esophageal atresia, Ebstein anomaly of the tricuspid valve, High palat... |
ORPHA:506358 |
Familial Multiple Lipomatosis |
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Abnormal tricuspid valve morphology, Functional intestinal obstruction |
ORPHA:199276 |
Familial Multiple Nevi Flammei |
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Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
Thrombocytopenia-Absent Radius Syndrome |
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Meckel diverticulum, Ventricular septal defect, Eosinophilia, Spina bifida, Pancreatic cysts, Thr... |
OMIM:274000 |
Mucopolysaccharidosis Type 2 |
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Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Lymphedema-Distichiasis Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Tetralogy of F... |
OMIM:153400 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
Ritscher-Schinzel Syndrome 3 |
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Atrioventricular canal defect |
OMIM:619135 |
Milroy Disease |
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Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Mucopolysaccharidosis Type 2, Severe Form |
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Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... |
ORPHA:217085 |
Lymphatic Malformation 6 |
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Splenomegaly, Varicose veins, Gastroesophageal reflux, Atrial septal defect, Intestinal lymphangi... |
OMIM:616843 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Gas... |
OMIM:619480 |
Parkes Weber Syndrome |
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Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly, Peripheral ar... |
ORPHA:217093 |
22Q11.2 Deletion Syndrome |
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Anorectal anomaly, Abnormal aortic arch morphology, Hypoplasia of the thymus, Gastroesophageal re... |
ORPHA:567 |
Geleophysic Dysplasia 1 |
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Hepatomegaly, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis |
OMIM:231050 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Aplasia of the epiglottis, Coarctation of a... |
OMIM:617088 |
Thymic Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... |
ORPHA:97289 |
Velocardiofacial Syndrome |
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Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... |
OMIM:192430 |
Autosomal Dominant Polycystic Kidney Disease |
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Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Dilatation of the cerebral art... |
ORPHA:730 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Coarctation o... |
ORPHA:508498 |
Coffin-Lowry Syndrome |
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Narrow palate, High palate, Abnormal tricuspid valve morphology, Abnormal aortic valve morphology... |
ORPHA:192 |
Pagod Syndrome |
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Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Pulm... |
ORPHA:991 |
Constricting Bands, Congenital |
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Encephalocele, Ectopia cordis, Cleft palate |
OMIM:217100 |
Autosomal Recessive Robinow Syndrome |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Bifid tongue, Abnormal aortic mor... |
ORPHA:1507 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarc... |
OMIM:600460 |
Codas Syndrome |
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Ventricular septal defect, Gastroesophageal reflux, Rectovaginal fistula, Atrial septal defect, A... |
OMIM:600373 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Abnormal vena cava morphology, Ventricular septal defect |
ORPHA:166035 |
Eisenmenger Syndrome |
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Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... |
ORPHA:97214 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Thoracic Outlet Syndrome |
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Varicose veins |
ORPHA:97330 |
Erythrocytosis, Familial, 2 |
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Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ... |
ORPHA:2072 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Pseudobulbar p... |
OMIM:125310 |
Distal Deletion 3P |
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Umbilical hernia, Atrioventricular canal defect, High palate, Cleft palate |
ORPHA:1620 |
Kleefstra Syndrome 1 |
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Macroglossia, Gastroesophageal reflux, Conotruncal defect, Protruding tongue |
OMIM:610253 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection |
OMIM:618343 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Long uvula, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve... |
ORPHA:536532 |
Doors Syndrome |
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Cleft palate, Sirenomelia, Narrow palate, High palate, Gastroesophageal reflux, Thrombocytosis, D... |
ORPHA:79500 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Livedoid Vasculopathy |
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Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... |
ORPHA:542643 |
Liposarcoma |
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Varicose veins |
ORPHA:69078 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Splenomegaly, Venous malformation, Spinal dysraphism |
OMIM:612918 |
Alagille Syndrome 1 |
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Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Neoplasm of the... |
ORPHA:3047 |
Phace Syndrome |
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Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Proteus-Like Syndrome |
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Venous insufficiency, Splenomegaly, Thymus hyperplasia |
ORPHA:2969 |
Clapo Syndrome |
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Lymphangioma, Varicose veins, Venous malformation |
ORPHA:168984 |
Adams-Oliver Syndrome 1 |
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Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Cleft... |
OMIM:100300 |
Robinow Syndrome |
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Ventricular septal defect, Bifid tongue, Abnormal heart morphology, Coarctation of aorta, Ankylog... |
ORPHA:97360 |
Smith-Lemli-Opitz Syndrome |
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Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Patent ductus arteriosus, Abn... |
ORPHA:818 |
Varicose Veins |
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Varicose veins |
OMIM:192200 |
Floating-Harbor Syndrome |
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Celiac disease, Coarctation of aorta, Atrial septal defect, Umbilical hernia, Mesocardia, Persist... |
OMIM:136140 |
Foix-Alajouanine Syndrome |
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Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Thauvin-Robinet-Faivre Syndrome |
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Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... |
OMIM:617107 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
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Varicose veins, Venous malformation |
OMIM:613089 |
Floating-Harbor Syndrome |
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Celiac disease, Tetralogy of Fallot, Coarctation of aorta, Gastroesophageal reflux, Atrial septal... |
ORPHA:2044 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, High pal... |
OMIM:143095 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Menkes Disease |
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Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial... |
ORPHA:565 |
Isolated Cleft Lip |
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Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency |
ORPHA:199302 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebral vascular morph... |
ORPHA:276280 |
Orofaciodigital Syndrome Type 2 |
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Hamartoma of tongue, Velopharyngeal insufficiency, Central retinal vessel vascular tortuosity, Cl... |
ORPHA:2751 |
H Syndrome |
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Microcytic anemia, Malabsorption, Lymphadenopathy, Hepatosplenomegaly, Varicose veins, Histiocytosis |
ORPHA:168569 |
Glomuvenous Malformation |
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Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Meige Disease |
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Varicose veins, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate amin... |
OMIM:243800 |
Autosomal Dominant Spastic Paraplegia Type 10 |
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Varicose veins |
ORPHA:100991 |
Occipital Horn Syndrome |
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Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Abnor... |
ORPHA:198 |
Renal Nutcracker Syndrome |
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Vulval varicose vein, Varicose veins, Renal artery stenosis, Anemia, Dilatation of mesenteric artery |
ORPHA:71273 |
Lymphedema-Distichiasis Syndrome |
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Varicose veins, Patent ductus arteriosus, Cleft palate |
ORPHA:33001 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Varicose veins |
OMIM:314300 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes... |
OMIM:187300 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Microglossia, Cleft palate, Coarctation of a... |
ORPHA:672 |
Vascular Ehlers-Danlos Syndrome |
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Peripheral arteriovenous fistula, Abnormal heart valve morphology, Arterial dissection, Transient... |
ORPHA:286 |
Ehlers-Danlos Syndrome, Vascular Type |
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Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation of the cerebral a... |
OMIM:130050 |
Gitelman Syndrome |
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Pericardial effusion, Varicose veins, Iron deficiency anemia, Neoplasm of the pancreas |
ORPHA:358 |
Hypermobile Ehlers-Danlos Syndrome |
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Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t... |
ORPHA:285 |
Microphthalmia With Limb Anomalies |
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Venous insufficiency, High palate, Cleft palate |
ORPHA:1106 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Norrie Disease |
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Venous insufficiency |
ORPHA:649 |