| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
| Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... |
OMIM:253300 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615297 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
OMIM:614980 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
| Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
| Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... |
ORPHA:185 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia |
OMIM:604416 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... |
OMIM:618316 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... |
OMIM:220210 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... |
OMIM:614954 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... |
OMIM:610338 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Patent d... |
OMIM:179613 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... |
ORPHA:1354 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Histiocytosis |
OMIM:209950 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... |
OMIM:614262 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries |
OMIM:614779 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology |
OMIM:615373 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:251076 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Double outlet right ventricle, Coarctation of aort... |
ORPHA:3426 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:617044 |
| Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... |
ORPHA:824 |
| 46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Ventricular septal defect, Hypoplastic left heart, Secundum at... |
OMIM:618901 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... |
ORPHA:3304 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:618858 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... |
ORPHA:477817 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... |
ORPHA:860 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... |
ORPHA:1457 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Mitral atresia, Double outlet right ventricle, Single ve... |
OMIM:306955 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... |
ORPHA:1461 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Abnormal mitral valve morphology |
ORPHA:1919 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Heme Oxygenase 1 Deficiency |
|
Coombs-positive hemolytic anemia, Thrombocytosis, Hemolytic anemia, Asplenia |
OMIM:614034 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hypoplastic left atrium |
OMIM:615524 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger |
ORPHA:1388 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Coffin-Siris Syndrome 10 |
|
Ventricular septal defect |
OMIM:618506 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:228940 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... |
ORPHA:261183 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2476 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
| Hadziselimovic Syndrome |
|
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Pu... |
OMIM:612946 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
| Hypertelorism And Tetralogy Of Fallot |
|
Tetralogy of Fallot with absent pulmonary valve, Tetralogy of Fallot, Patent ductus arteriosus, P... |
OMIM:239711 |
| Primary Ciliary Dyskinesia |
|
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... |
ORPHA:244 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Right atrial isomerism... |
OMIM:270100 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy... |
ORPHA:1166 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:617021 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... |
ORPHA:2299 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... |
OMIM:613426 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... |
ORPHA:2209 |
| Fetal Trimethadione Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Atrial septal defect, Tetralogy o... |
ORPHA:1913 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus |
OMIM:614886 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... |
OMIM:612561 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... |
ORPHA:99050 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Leukocytosis, Hypoglycemia, Thrombocytosis |
ORPHA:134 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... |
ORPHA:371428 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... |
ORPHA:401935 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Complete atrioventricular canal defect |
OMIM:619142 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect |
OMIM:616901 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
| Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary arte... |
ORPHA:3384 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:618624 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:619189 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Anemia, Lymphopenia, Leukopenia |
OMIM:615934 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect |
OMIM:207620 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Double outlet right ventricle, Pulmonary artery hypoplasia, Right aortic ... |
ORPHA:2326 |
| Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... |
OMIM:608978 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... |
ORPHA:3092 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... |
OMIM:619371 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... |
ORPHA:2847 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot |
ORPHA:3033 |
| Meacham Syndrome |
|
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... |
ORPHA:3097 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618974 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis |
OMIM:226300 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Recurrent hypoglycemia, Nonketotic hypoglycemia |
ORPHA:20 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus |
ORPHA:2516 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... |
OMIM:607598 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot |
ORPHA:1381 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Atrial septal defect, Contractures of the interphalangeal joint of the... |
OMIM:613870 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:616589 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Arthrogryposis multiplex congenita, Pul... |
OMIM:301056 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
| Poems Syndrome |
|
Polycythemia, Thrombocytosis, Diabetes mellitus |
ORPHA:2905 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet a... |
ORPHA:324636 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Overrid... |
OMIM:601927 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Thrombocytosis, Type I diabetes mellitus, Macrocytic anemia |
OMIM:212750 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
| Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... |
OMIM:617478 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615279 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Ventricular septal defect, Mixed total anomalous pulmonary venous connection, Mitra... |
ORPHA:99125 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:3449 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis |
OMIM:618223 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Atrioventricular canal defect, Patent ductus ar... |
ORPHA:210122 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... |
OMIM:615688 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta |
OMIM:600987 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot |
OMIM:600123 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... |
ORPHA:392 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Varicose veins, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:153400 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:615355 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:49827 |
| Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
OMIM:249270 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic l... |
OMIM:301043 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... |
ORPHA:1727 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
| Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Aortic valve... |
OMIM:248950 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Double outlet right ventricle, M... |
ORPHA:163956 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ventricular hypertro... |
ORPHA:284169 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:608406 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:601186 |
| Hepatocellular Carcinoma |
|
Thrombocytosis, Hypoglycemia, Type II diabetes mellitus, Polycythemia, Anemia, Thrombocytopenia |
ORPHA:88673 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:613398 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis |
OMIM:212065 |
| Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Knee flexion contracture, Atri... |
OMIM:603387 |
| Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta, Camptodactyly |
OMIM:616145 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture |
OMIM:147800 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:618142 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... |
OMIM:264480 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Camptodactyly |
OMIM:300963 |
| Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:263630 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... |
OMIM:618619 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:2328 |
| Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Pulmonic stenosis |
OMIM:610205 |
| Transketolase Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal def... |
ORPHA:488618 |
| Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
| Cardiac-Urogenital Syndrome |
|
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductus arteriosus, At... |
OMIM:618280 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries |
OMIM:314390 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:290 |
| Microcephaly-Capillary Malformation Syndrome |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:614261 |
| Congenital Gerbode Defect |
|
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... |
ORPHA:99095 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Diastasis recti |
ORPHA:254534 |
| Desbuquois Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... |
ORPHA:1425 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, A... |
ORPHA:2970 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:600001 |
| 8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Congenita... |
ORPHA:251071 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Muscle fiber atroph... |
OMIM:619542 |
| Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... |
ORPHA:3260 |
| Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Double outlet right ventricle with su... |
ORPHA:397 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... |
OMIM:249420 |
| Phace Association |
|
Ventricular septal defect, Coarctation of aorta, Anomalous branches of internal carotid artery, P... |
OMIM:606519 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:613680 |
| Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
| Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
ORPHA:3306 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Arthrogryposis multiplex congenita |
OMIM:613404 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:218350 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hypomimic face |
OMIM:608572 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Ventricular septal defect |
OMIM:617164 |
| Brachydactyly, Type B1 |
|
Ventricular septal defect, Joint contracture of the hand, Camptodactyly |
OMIM:113000 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Tetralogy of Fallot, A... |
OMIM:600460 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
| Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia |
ORPHA:84064 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:617360 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:613457 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Congenital muscular torticollis |
ORPHA:2345 |
| Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... |
OMIM:609029 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Arthrogryposis mu... |
OMIM:208085 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Distal arthrogryposis, Mitral valve prolapse, H... |
OMIM:121050 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteri... |
ORPHA:500159 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
ORPHA:75389 |
| Phaver Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Camptodactyly of finger, Pulmonary artery atresi... |
ORPHA:2876 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Ventricular septal defect, Cardiomegaly, Overriding aorta |
OMIM:617022 |
| 3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... |
ORPHA:7 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Secundum atrial septal ... |
OMIM:612562 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Transposition of the great arteries, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:617877 |
| Johnson Neuroectodermal Syndrome |
|
Right aortic arch, Ventricular septal defect, Facial palsy, Patent ductus arteriosus |
OMIM:147770 |
| Complete Atrioventricular Septal Defect |
|
Complete atrioventricular canal defect, Primum atrial septal defect, Displacement of the papillar... |
ORPHA:1329 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... |
ORPHA:216694 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:301039 |
| Pentalogy Of Cantrell |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect, Tetralogy of Fa... |
ORPHA:1335 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:145420 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot, Pulmonary artery atresia |
ORPHA:1908 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
| Atrioventricular Septal Defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
| Roifman Syndrome |
|
Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy |
OMIM:616651 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:452 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Coarctation of aorta |
OMIM:617159 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Coarctation... |
ORPHA:363705 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, ... |
OMIM:606003 |
| Thakker-Donnai Syndrome |
|
Transposition of the great arteries, Ventricular septal defect, Tetralogy of Fallot, Congenital d... |
ORPHA:1780 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior vena cava, Peric... |
OMIM:618775 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615102 |
| Distal Monosomy 15Q |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Mitral atresia, Congenital diaphragmatic ... |
ORPHA:1596 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Macroglossia, Patent ductus arteriosus |
OMIM:612938 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
| 15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
| Acrocardiofacial Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Atrial sept... |
ORPHA:2008 |
| Down Syndrome |
|
Macroglossia, Complete atrioventricular canal defect |
OMIM:190685 |
| Brucellosis |
|
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
ORPHA:1304 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:329224 |
| Thoracoabdominal Syndrome |
|
Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus, Congenital diaphra... |
OMIM:313850 |
| Meier-Gorlin Syndrome 7 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:617063 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1488 |
| Kagami-Ogata Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Diastasis recti, Atrial s... |
OMIM:608149 |
| Microphthalmia, Syndromic 2 |
|
Dextrocardia, Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Co... |
OMIM:300166 |
| Noonan Syndrome 2 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Abnormal c... |
OMIM:605275 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Abnormal corona... |
ORPHA:980 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:2519 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Hypochromic anemia |
OMIM:618213 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Coarctation of aor... |
OMIM:616564 |
| Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Ventricular septal defect, Lower limb hypertonia |
OMIM:169400 |
| 3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Skeletal muscle atrophy, Patent ductus arteriosus, Pulmonic stenosis, ... |
ORPHA:435638 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Pulmonary valve atresia |
OMIM:301030 |
| Kawasaki Disease |
|
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... |
ORPHA:2331 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Hypoplasia of right ventricle, Congenital dia... |
ORPHA:2255 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus |
OMIM:617516 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect |
OMIM:243150 |
| Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia... |
ORPHA:2968 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Scapular winging, Pate... |
OMIM:618870 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Macroglossia, Abnormal heart morphology, Camptodactyly, Patent foramen... |
ORPHA:369891 |
| Char Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:46627 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Small thenar eminenc... |
OMIM:142900 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta, Atrial septal d... |
OMIM:617602 |
| Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Pulmonary arter... |
OMIM:616777 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:615508 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... |
OMIM:619472 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Camptodactyly, Pulmonic stenosis |
OMIM:619123 |
| Meckel Syndrome, Type 4 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:611134 |
| Sotos Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:117550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Pulmonic stenosis, Congenital muscular dystrophy... |
OMIM:253800 |
| Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:618950 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Patent ductus arteriosus, Pulmonic sten... |
OMIM:201000 |
| Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Type II diabetes mellitus, Leukopenia, Insulin resistance, Insulin-resistan... |
ORPHA:2298 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, H... |
ORPHA:2473 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:52055 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P... |
OMIM:612582 |
| Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... |
ORPHA:96170 |
| Trisomy 13 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
ORPHA:3378 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Patent ductus arteriosus |
OMIM:613309 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, C... |
ORPHA:96167 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Atrial septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Dysplastic tricuspid valve, Patent ductus arteriosus, Misalignment of the ... |
OMIM:265380 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:77298 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Patent ductus arteriosus, Atrial septal... |
OMIM:244300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contra... |
OMIM:309520 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Right aortic arch with mirror image branching... |
OMIM:192430 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Congenital diaphragmatic hernia, Ventricular septal defect |
OMIM:611812 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Patent duct... |
ORPHA:95430 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Contractures of the large joints |
ORPHA:3078 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulm... |
ORPHA:3071 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614576 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Macroglossia, Coarctation of aorta, Tetralogy of Fallot, Abnormal cardiac sep... |
ORPHA:96147 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Camptodactyly of finger |
OMIM:616920 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect... |
ORPHA:457279 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Flexion contracture |
ORPHA:79243 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:609053 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture |
OMIM:616897 |
| Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
| Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Torticollis |
ORPHA:276432 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
