| Thyroid Cancer, Nonmedullary, 2 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma |
OMIM:188470 |
| Thyroid Cancer, Nonmedullary, 5 |
|
Non-medullary thyroid carcinoma |
OMIM:616535 |
| Thyroid Carcinoma, Familial Medullary |
|
Medullary thyroid carcinoma |
OMIM:155240 |
| Thyroid Cancer, Nonmedullary, 3 |
|
Non-medullary thyroid carcinoma |
OMIM:606240 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Papillary thyroid carcinoma, Euthyroid multinodular goiter |
OMIM:138800 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Non-medullary thyroid carcinoma, Goiter |
OMIM:616534 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter |
OMIM:274700 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter |
OMIM:188570 |
| Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... |
OMIM:275200 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism |
OMIM:225250 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... |
OMIM:601493 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriately ... |
OMIM:301035 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Chorioretinal coloboma, Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral... |
OMIM:611638 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Microcephaly |
OMIM:617228 |
| Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1R |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricula... |
OMIM:613424 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... |
OMIM:613759 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology |
OMIM:615373 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Joint contracture of the hand, Patent d... |
OMIM:179613 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter |
OMIM:180295 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Goiter |
OMIM:274300 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Short stature, Holoprosencephaly, Anophthalmia, Cyclopia, Anterior hypopituitaris... |
OMIM:147250 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... |
OMIM:252011 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
| Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Intrahepatic biliary atresia, Branchi... |
ORPHA:1296 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Adrenal hypoplasia, ... |
OMIM:220210 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
| Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Ventricular septal defect, Atrial s... |
OMIM:253300 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... |
OMIM:617205 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger |
ORPHA:1937 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis |
OMIM:122850 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Hepatic fibrosis, Decreased liver function, Cerebral atrophy, Pulmonar... |
ORPHA:306550 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:615297 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... |
OMIM:618316 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Umbilical hernia, Increased radioactive iodine uptake, Decreas... |
ORPHA:95716 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy, Microcephaly, Abnormal cerebral white ... |
OMIM:614947 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Gray matter heterotopia, Cryptorchidism, Hypoplasia of the corpus c... |
OMIM:164180 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosus, Atrial septal defect, Hy... |
OMIM:614886 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... |
ORPHA:3304 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Double outlet right ventricle,... |
ORPHA:3426 |
| Bangstad Syndrome |
|
Goiter, Insulin-resistant diabetes mellitus, Severe short stature, Abnormally large globe, Cerebr... |
OMIM:210740 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
| Scimitar Syndrome |
|
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Anomalous pulmona... |
ORPHA:185 |
| Permanent Congenital Hypothyroidism |
|
Goiter, Short stature, Hypothyroidism, Thyroid dysgenesis, Umbilical hernia, Jaundice |
ORPHA:226292 |
| Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Goiter, Short stature, Abnormal pericardium morphology, Hypogonadism... |
ORPHA:442 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas |
ORPHA:3032 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
| Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... |
ORPHA:1330 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Microphthalmia, Growth delay, Holoprosencephaly, Anophthalmia, Iris co... |
ORPHA:77298 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:614429 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Central hypothyroidism, Ascites, Double outlet right ventricle, Abnormality of the ... |
ORPHA:1667 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot |
OMIM:615542 |
| Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect, Microcephaly |
ORPHA:3434 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis |
ORPHA:1909 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Myopathy, Increased variability in muscle fiber diameter, Dilation of ... |
OMIM:616816 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Microcephaly |
ORPHA:391646 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Abnormality of neuronal migration, Microphthalmia, Anophthalmia, Abse... |
ORPHA:899 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... |
OMIM:306955 |
| Feingold Syndrome 2 |
|
Secondary microcephaly, Ventricular septal defect |
OMIM:614326 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-s... |
ORPHA:226313 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Hydranencephaly, Truncus arteriosus, Microcephaly |
OMIM:601355 |
| Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Microphthalmia, Short stature, Hypothalamic hamartoma, Anophthalmia, H... |
OMIM:206900 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
| Hydrolethalus |
|
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Absent septum pellucidum, Hydrocephal... |
ORPHA:2189 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:319487 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly |
ORPHA:2515 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Megalencephaly, Polymicrogyria, Hydrocephalus, Abnormal cardiac septum... |
ORPHA:83473 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Short neck, Microphthalmia, Microcephaly |
OMIM:613885 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... |
OMIM:614980 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Ventricular septal defect, Oligohydramnios, Patent ductus arteriosus |
OMIM:617021 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Hepatomegaly, Ventricular septal defect, Abnormal aortic arch morphology... |
ORPHA:860 |
| Holoprosencephaly |
|
Abnormality of neuronal migration, Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Hydr... |
ORPHA:2162 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Pulmonic stenosis |
ORPHA:251076 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mi... |
ORPHA:1354 |
| Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Congenital hypothyroidism, Growth delay, Short sta... |
ORPHA:209905 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Abnormal he... |
ORPHA:477817 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... |
OMIM:208085 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Porencephalic cyst, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Thyroid hyperplasia, Goiter |
OMIM:609152 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Neonatal death, Left ventricular hypertrophy, Secondary mic... |
OMIM:619167 |
| Cockayne Syndrome Type 2 |
|
Hepatomegaly, Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth, M... |
ORPHA:90322 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Hepatomegaly, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:301056 |
| Genetic Transient Congenital Hypothyroidism |
|
Goiter, Umbilical hernia, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulatin... |
ORPHA:226316 |
| Aortic Valve Disease 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... |
OMIM:109730 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Coarctation of aorta, Pulmonary artery hypoplasia,... |
OMIM:613426 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... |
OMIM:614300 |
| Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Growth delay, Goiter, Neoplasm of the adrena... |
ORPHA:163634 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, ... |
ORPHA:244 |
| Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Microphthalmia, Anophthalmia, Abnormality of the hypothalamus-pituitary a... |
ORPHA:139471 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microcephaly, Polyhydramnios |
ORPHA:3469 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly of finger |
ORPHA:1388 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Limited neck flexion, Goiter, Hypothyroidism, Abnormal cerebral white matter morphology, Hashimot... |
ORPHA:83601 |
| Phenobarbital Embryopathy |
|
Tetralogy of Fallot, Microcephaly, Abnormal mitral valve morphology |
ORPHA:1919 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Giant cell hepatitis, Right ventricular hypertrophy, Arthrogryposis mu... |
OMIM:613404 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism |
OMIM:617577 |
| Trisomy 13 |
|
Ventricular septal defect, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Cystic ... |
ORPHA:3378 |
| Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Microcephaly |
OMIM:618506 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Iris coloboma |
ORPHA:1104 |
| Myxedema |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter |
OMIM:255900 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormal aortic morphology, Congenital diaphragmatic hernia, Microceph... |
ORPHA:1166 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Pallister-Hall Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Microphthalmia, Short stature, Holopr... |
OMIM:146510 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, Double outlet right vent... |
ORPHA:371428 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Arthrogryposis multiplex congenita, Hydrocephalus |
ORPHA:250994 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Microcephaly, Ventricular septal defect, Atrial septal defect, Periventricular leukomalacia |
ORPHA:357225 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosis, Atrial septal d... |
OMIM:614262 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Ec... |
OMIM:610125 |
| Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice |
OMIM:234350 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:97290 |
| Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... |
ORPHA:64743 |
| Hadziselimovic Syndrome |
|
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Hy... |
OMIM:612946 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Situs inversus totalis, Do... |
OMIM:605376 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Situs ... |
OMIM:615415 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Ventricular septal defect, Hypoplastic left heart, Anencephaly |
ORPHA:2476 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Hypothyroidism, Crypto... |
OMIM:619189 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia, Dextrocardia |
OMIM:221950 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Hypoplasia of the corpus callosum, Occipital cortical atrophy |
ORPHA:411986 |
| X-Linked Mandibulofacial Dysostosis |
|
Short stature, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomal... |
ORPHA:1131 |
| Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:615355 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Abnormal heart morphology, Cardiomyopathy, Muscular dystrophy, Flexion c... |
ORPHA:1344 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot, Decreased response to growth hormone stimulation ... |
OMIM:618624 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Igg4-Related Thyroid Disease |
|
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... |
ORPHA:64744 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus, Neonatal death |
OMIM:228940 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Atrioventricul... |
ORPHA:453499 |
| Microgastria-Limb Reduction Defects Association |
|
Arrhinencephaly, Asplenia, Biliary tract abnormality, Anophthalmia, Splenogonadal fusion, Absent ... |
OMIM:156810 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic ... |
ORPHA:1926 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal ascending aorta morphology, Truncus ar... |
ORPHA:2299 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Increased circulating T4 level, Intrauterine growth retardation, Goiter, Splenomega... |
ORPHA:525731 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Splenomegaly, Atrial septal de... |
ORPHA:290 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Restrictive cardiomyopathy, Pulmonic stenosis, Hydrops fetalis |
OMIM:619433 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Edema, Coarctation of aorta, Cirrhosis, Hepatosplenomegaly, Atrial sep... |
ORPHA:101028 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Abdominal situs ambiguus, Asce... |
OMIM:270100 |
| Renal Tubular Dysgenesis |
|
Oligohydramnios, Tetralogy of Fallot, Microcephaly, Polyhydramnios |
ORPHA:3033 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Hypothyro... |
OMIM:601005 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
| Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect, Microcephaly |
OMIM:272440 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Hypoplasia of the corpus callosum, Ventricular septal defect, Atrial septal defect, Patent ductus... |
OMIM:618974 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Growth delay, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thy... |
ORPHA:90674 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis, A... |
OMIM:618223 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Hydrocele testis, Patent ductus arteriosus, Atrial sept... |
OMIM:601927 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, C... |
ORPHA:401935 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Hepatic fibrosis |
OMIM:616589 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... |
ORPHA:2209 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Thick corpus c... |
OMIM:603387 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Microcephaly |
ORPHA:2516 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Edema, Arthrogryposis... |
OMIM:607598 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Ascites, Edema, Cardiomyopathy, Arthrogryposis multiplex congenita, Poly... |
OMIM:232500 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot, Hypoplasia of the corpus call... |
OMIM:300887 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Ventricular septal defect |
OMIM:616901 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyria |
OMIM:602501 |
| Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:99819 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis |
ORPHA:2868 |
| Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus |
OMIM:617044 |
| Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Patent ductus arteriosus, ... |
OMIM:615382 |
| Thyroid Lymphoma |
|
Hashimoto thyroiditis, Hyperthyroidism, Goiter, Hypothyroidism |
ORPHA:97285 |
| Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Coarctation of aorta, Micronodular cir... |
OMIM:606003 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Bilateral cryptorchidism, Atri... |
OMIM:618652 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Hepatomegaly, Ventricular septal defect, Peau d'orange, Patent ductus... |
OMIM:614576 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Septo-optic dysplasia, Colpocephaly, Double outlet right ventricle, Se... |
OMIM:301043 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypointensity of cerebral white matter on MRI, Peripheral pulmonary ar... |
ORPHA:163956 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Hepatic cysts, Stillbirth, Polyhydramnios, Atrial septal defect |
OMIM:263630 |
| Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Isolated Dandy-Walker Malformation |
|
Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot |
ORPHA:217 |
| Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly |
OMIM:613458 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Cryptorchidism, Hypoplasia of... |
OMIM:218350 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar e... |
OMIM:211960 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Anophth... |
ORPHA:2250 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... |
ORPHA:261183 |
| 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 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Pedal edema, Peripheral arte... |
OMIM:126320 |
| Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... |
ORPHA:3384 |
| Trisomy 1Q |
|
Ventricular septal defect, Anophthalmia, Cystic hygroma, Increased nuchal translucency, Hydroceph... |
ORPHA:261344 |
| Pendred Syndrome |
|
Hypothyroidism, Thyroid carcinoma, Hyperparathyroidism, Goiter |
ORPHA:705 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... |
OMIM:603471 |
| 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 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Cryptorchidism, Severe postnatal growth retardation, Microcephaly |
ORPHA:435938 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ectopic thyroid, Ventricular septal defect, Atrioventricular canal defect, Thyroid hypoplasia, Pa... |
ORPHA:3047 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Polyh... |
ORPHA:3405 |
| Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... |
OMIM:609029 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Microcephaly |
ORPHA:2772 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Micr... |
ORPHA:90308 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Mitral valve prolapse, Ventricular hypertrophy, Patent ductus arterios... |
OMIM:612561 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Ventricular septal defect, Abnormality of mesentery morphology, Polyhydramnios |
ORPHA:2256 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:424 |
| Vacterl With Hydrocephalus |
|
Arrhinencephaly, Intrauterine growth retardation, Microphthalmia, Anophthalmia, Spina bifida, Hyd... |
ORPHA:3412 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Goiter |
OMIM:613239 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... |
ORPHA:90673 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Tetralogy o... |
ORPHA:1913 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Focal T2 hyperintense basal ganglia lesion |
ORPHA:255241 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating free T3, Growth delay, Thyroid hypoplasia, Pituitary hypothyroidism, Decrea... |
ORPHA:99832 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Cryptorchidis... |
OMIM:615102 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Patent ductus arteriosus, Pachygyria, Exocrine pancreatic insufficienc... |
ORPHA:452 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Double outlet right ventricle, Hypogonadotropic hypogonadism, Pulmonary a... |
ORPHA:2326 |
| Branchiootorenal Syndrome 1 |
|
Euthyroid goiter, Abnormal cerebral morphology, Branchial cyst, Branchial fistula |
OMIM:113650 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Ventricular septal defect, Patent ductus arteriosus, Aortic arch... |
ORPHA:1455 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Partial agenesis of the corpus callosum, Ventricular septal defect, Trun... |
OMIM:617478 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Abnormal heart morphology, Atrial septal defect, Tetralogy of... |
OMIM:614954 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Short statur... |
OMIM:610829 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... |
ORPHA:2255 |
| Craniofacial Microsomia |
|
Ventricular septal defect, Microphthalmia, Anophthalmia, Branchial anomaly, Hydrocephalus, Tetral... |
OMIM:164210 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... |
ORPHA:3092 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Annular pancreas, Atrioventricular ca... |
ORPHA:210122 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Polyhydramnios, Abno... |
ORPHA:1923 |
| Meckel Syndrome |
|
Microphthalmia, Lobar holoprosencephaly, Anencephaly, Pancreatic cysts, Cystic liver disease, Asp... |
ORPHA:564 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Ventricular septal defect, Anencephaly, Bile duct proliferation, Atrial septal defec... |
OMIM:611134 |
| Hypertelorism And Tetralogy Of Fallot |
|
Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, S... |
OMIM:239711 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level, Ventricular septal defect, Aplasia of the left hemidiaphragm,... |
OMIM:618901 |
| Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonic stenosis, Abnormality of the... |
ORPHA:139466 |
| Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Macroglossia, Patent ductus arteriosus, H... |
OMIM:612938 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Right ventricular hypertrophy, Progressive microcephaly, Atrial septal... |
OMIM:614261 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Lissencephaly, Microce... |
OMIM:618142 |
| Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Diastasis recti, Atrial septal defect, Cryptorchidi... |
OMIM:248950 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Elevated hepatic transaminase, Anophthalmia, Delayed eruption of primary teeth, Mal... |
ORPHA:90321 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Hip contracture, Splenomeg... |
OMIM:616651 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Neonatal death, Aplasia of the left hemidiaphragm, Patent ductus arteriosu... |
OMIM:608978 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Secondary microcephaly, Ventricular septal defect |
ORPHA:3369 |
| Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Small cerebral cortex, Atrial septal defect, Camptodactyly, Hypoplasia... |
OMIM:617360 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Pancreatic hypoplasia, Aplasia of the left hemidiaphragm, Double outlet left ... |
OMIM:600001 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... |
ORPHA:1461 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cryptorchidism, Hypoplasia of the corpus cal... |
OMIM:613457 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Optic ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Growth delay, Abnormal heart morphology, Optic ... |
ORPHA:352665 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:601186 |
| Phace Association |
|
Ventricular septal defect, Congenital hypothyroidism, Lingual thyroid, Coarctation of aorta, Anom... |
OMIM:606519 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Holoprosencephaly, Thyroid hypoplasia, Cyclopia, Abnormality of the hypothalamus-... |
ORPHA:2166 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentration, Reduced rad... |
ORPHA:226307 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Splenomegaly, Hydrocephalus, Cholestas... |
OMIM:615630 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Oligohydramnios, Tetralogy of Fallot, Prominent superficial veins, Joint contracture of the 5th f... |
OMIM:602249 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, T... |
ORPHA:1908 |
| Lambotte Syndrome |
|
Ventricular septal defect, Semilobar holoprosencephaly, Microcephaly |
OMIM:245552 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Polyhydramn... |
OMIM:608149 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Abnormality of the spleen, Arrhinencephaly, Hepatomegaly, Microphthal... |
ORPHA:2538 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, O... |
ORPHA:2970 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Macroglossia, Edema, Coar... |
ORPHA:363705 |
| Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Atr... |
ORPHA:488618 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Colpocephaly, Dextrotransposition of the great ... |
OMIM:618619 |
| German Syndrome |
|
Arthrogryposis multiplex congenita, Tetralogy of Fallot, Abnormal cardiac septum morphology, Camp... |
ORPHA:2077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Pineal cyst, Dysplastic... |
OMIM:300967 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:615279 |
| Charge Syndrome |
|
Intrauterine growth retardation, Chorioretinal coloboma, Short stature, Microphthalmia, Holoprose... |
ORPHA:138 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Basal ganglia necrosis, Basal... |
ORPHA:79243 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Congenital diaphragmatic hernia, Aplasia of the... |
ORPHA:2847 |
| Pentalogy Of Cantrell |
|
Ventricular septal defect, Anencephaly, Congenital diaphragmatic hernia, Absent gallbladder, Atri... |
ORPHA:1335 |
| Charge Syndrome |
|
Arrhinencephaly, Dysplastic tricuspid valve, Retinal coloboma, Decreased response to growth hormo... |
OMIM:214800 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Diabetes... |
OMIM:249270 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
| Anaplastic Thyroid Carcinoma |
|
Broad neck, Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Atrial septal defect, Contractures of the interphalangeal joint of the... |
OMIM:613870 |
| Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter |
OMIM:275000 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Ventricular septal defect, Absent septum pellucidum |
OMIM:601357 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Coarctation of aor... |
OMIM:616564 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Rhizomelia, Coloboma, Precocious puberty |
OMIM:615877 |
| Congenital Gerbode Defect |
|
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Right ventricular h... |
ORPHA:99095 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Ectopic thyroid, Congenital hypothyroidism, Growth delay, Goiter, Thyroid hypoplasia, Elevated ci... |
OMIM:218700 |
| Lymphedema-Distichiasis Syndrome |
|
Lymphedema, Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Tetralogy of Fal... |
OMIM:153400 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Ventricular septal defect, Atrial septal defect, Microcephaly, Coarctation of aorta |
OMIM:600987 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Camptodactyly, Cryptor... |
OMIM:300963 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Goiter, Limb muscle weakness, Facial ... |
ORPHA:254892 |
| Noonan Syndrome 2 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Abnormal c... |
OMIM:605275 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Diabetes mellitus |
ORPHA:49827 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| 8P23.1 Microdeletion Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal aortic morphology, Atrioventricular canal defect, Congenita... |
ORPHA:251071 |
| Meacham Syndrome |
|
Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Congenital diaphragmati... |
ORPHA:3097 |
| Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Facial palsy, Patent ductus arteriosus,... |
OMIM:147770 |
| Cowden Syndrome 1 |
|
Goiter, Hemimegalencephaly, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Ovarian carcinoma, Th... |
OMIM:158350 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Congenital hypothyroidism, Patent ductus arteriosus, Atrial septal def... |
ORPHA:2519 |
| Acrocardiofacial Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Hyperthyroi... |
ORPHA:2008 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Abdominal situs inversus, Asplenia, Atrioventricular canal defect, Pul... |
OMIM:619123 |
| Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
| Phace Syndrome |
|
Ectopic thyroid, Lens coloboma, Microphthalmia, Abnormal heart morphology, Optic nerve hypoplasia... |
ORPHA:42775 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... |
ORPHA:1727 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Probst bundles, ... |
OMIM:612863 |
| Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect, Microcephaly |
ORPHA:398156 |
| Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Patent ductus art... |
ORPHA:96170 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Ventricular septal defect, Microcephaly |
OMIM:617164 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, Tetr... |
ORPHA:2328 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Polyhydramnios |
ORPHA:254534 |
| Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:91347 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Hypogonadism, Tetralogy of Fallot, Cryptorchidism, Precocious puberty,... |
ORPHA:3306 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Holoprosencephaly, Lissencephaly, Congenital mus... |
OMIM:253800 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Poly... |
ORPHA:3071 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Agenesis of corpus callosum |
ORPHA:93267 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... |
ORPHA:1457 |
| Microphthalmia, Syndromic 2 |
|
Dextrocardia, Adrenal insufficiency, Ventricular septal defect, Microphthalmia, Mitral valve prol... |
OMIM:300166 |
| Medullary Thyroid Carcinoma |
|
Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevated calcitonin, Ph... |
ORPHA:1332 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Varicose veins... |
OMIM:602782 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Microcephaly, Patent ductus arteriosus |
OMIM:613680 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Minicore myopathy, Weakness of facial musculature, Muscle fiber atroph... |
OMIM:619542 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Atrial septal defect, Pulmo... |
OMIM:617300 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Cavum septum pellucid... |
ORPHA:329224 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Interface hepatitis, Polyhydramnios, Hypoplasia of the thymus |
OMIM:243150 |
| Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ventricular septal defect, Perisylvian polymicrogyria, Hypoplastic anterior limbs o... |
OMIM:615673 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Flexion contracture |
OMIM:147800 |
| Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:3449 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Torticollis, Hypoplasia of the thymus, Cardiomegaly, Oligohydramnios, ... |
OMIM:617022 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
| Mass Syndrome |
|
Mitral valve prolapse, Aortic aneurysm |
OMIM:604308 |
| Isotretinoin-Like Syndrome |
|
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... |
ORPHA:2306 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... |
OMIM:614921 |
| Alstrom Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Short stature... |
OMIM:203800 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Absent septum pellucidum, Patent ductus arteriosus, Increased nuchal t... |
OMIM:618870 |
| Distal Monosomy 15Q |
|
Bicuspid aortic valve, Abnormal aortic arch morphology, Decreased serum insulin-like growth facto... |
ORPHA:1596 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Ventricular septal defect, Congenital muscular torticollis |
ORPHA:2345 |
| Hypoplastic Left Heart Syndrome |
|
Maternal diabetes, Mitral atresia, Mitral stenosis, Patent ductus arteriosus, Hypoplastic left he... |
ORPHA:2248 |
| Desbuquois Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of... |
ORPHA:1425 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... |
ORPHA:2184 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Atrioventricular canal defect, Patent duct... |
ORPHA:392 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus |
OMIM:608406 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvular aortic stenosis, Atr... |
OMIM:613001 |
| Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta, Camptodactyly, C... |
OMIM:616145 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia,... |
ORPHA:75389 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Hydrops fetalis, Cardiomegaly, P... |
OMIM:616897 |
| Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal... |
OMIM:610205 |
| Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Asplenia, Endocardial fibroelastosis, Hydrops fetalis, P... |
ORPHA:99776 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios, Aplasia/Hypoplasia of the cor... |
OMIM:616920 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Increased circulating gonadotropin level, Atrial septal defect, Cerebr... |
OMIM:301030 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Persistent left sup... |
OMIM:618775 |
| 3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Skeletal muscle atrophy, Cerebral white matter atrophy, Knee flexion c... |
ORPHA:435638 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Double outlet right ventricle, Atrial septal de... |
OMIM:249420 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Cardiac-Urogenital Syndrome |
|
Dextrocardia, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductus arteriosus, Ac... |
OMIM:618280 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Coarctation of aorta, Cryptorchidism, Pulmonic stenosis |
OMIM:616559 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Pineal cyst, Truncus arteriosus, Patent ductus arteriosus, Cryptorchidism |
OMIM:617516 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral arterie... |
OMIM:618780 |
| Giant Cell Arteritis |
|
Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Diabetes insipidus, Double outlet rig... |
ORPHA:397 |
| Carney Complex, Type 1 |
|
Cardiac myxoma, Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated ci... |
OMIM:160980 |
| Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Goiter, Eruption ... |
ORPHA:733 |
| 3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Atrioventricular canal defect, Abnor... |
ORPHA:7 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... |
ORPHA:99050 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Microcephaly |
OMIM:609654 |
| Thyroid Ectopia |
|
Ectopic thyroid, Growth delay, Short stature, Hypothyroidism, Abnormality of the thyroid gland, U... |
ORPHA:95712 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Persistent left super... |
OMIM:108800 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Hydrocephalus, Vascular dilatation, Polyhydramnios |
OMIM:219730 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Aplasia/Hypoplasia of the corpus call... |
ORPHA:2143 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal prolactin level, Growth delay, Septo-optic dysplasia, Holoprosencephaly, Decreased respo... |
ORPHA:95494 |
| 14Q22Q23 Microdeletion Syndrome |
|
Diabetes insipidus, Short stature, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, ... |
ORPHA:264200 |
| Kawasaki Disease |
|
Myocarditis, Ascending tubular aorta aneurysm, Pericarditis, Double outlet right ventricle with s... |
ORPHA:2331 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Ascites, Polyhydramnios, Spl... |
OMIM:235255 |
| Seckel Syndrome 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Simplifi... |
OMIM:616777 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Polysplenia, Joint contracture of the hand, Patent ductus arteriosus, ... |
OMIM:201000 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Postnatal growth retardation, Microphthalmia, Growth delay |
OMIM:206920 |
| Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Ascites, Hydrocele testis, Edema, Chylothorax, Facial edema, Genital e... |
OMIM:616843 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema, Microcephaly |
OMIM:618348 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Macroglossia, Coarctation of aorta, Cerebral cortical atrophy, Subcortical ce... |
ORPHA:96147 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Colpocephaly, Absent septum pellucidum, Atrial septal defect, Hypothyr... |
OMIM:609053 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Cryptorchidism |
OMIM:618504 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Abnormal corpus call... |
ORPHA:457279 |
| Hypoplastic Left Heart Syndrome 2 |
|
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia |
OMIM:614435 |
| Gm1 Gangliosidosis |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Cherry red spot ... |
ORPHA:354 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... |
OMIM:265380 |
| Adams-Oliver Syndrome |
|
Pulmonary artery atresia, Ascites, Congenital hepatic fibrosis, Cirrhosis, Porencephalic cyst, Te... |
ORPHA:974 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Ventricular septal defect, Branchial fistula, Webbed neck, Tricuspid valve prolapse, Optic disc c... |
ORPHA:261337 |
| Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... |
ORPHA:652 |
| Fibular Hemimelia |
|
Anophthalmia, Abnormal heart morphology, Spina bifida |
ORPHA:93323 |
| Contractural Arachnodactyly, Congenital |
|
Distal arthrogryposis, Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, H... |
OMIM:121050 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Patent ductus arteriosus, Pachygyria, A... |
OMIM:244300 |
| Sotos Syndrome |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Patent ductus arteriosus, Cav... |
OMIM:117550 |
| Proboscis Lateralis |
|
Ventricular septal defect, Chorioretinal coloboma, Microphthalmia, Holoprosencephaly, Anophthalmi... |
ORPHA:141099 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... |
OMIM:264480 |
| Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ |
OMIM:616858 |
| Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
| Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Polyhydramnios, Tetralogy of Fallot, Secundu... |
OMIM:612562 |
| 19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Arthrogryposis multiplex congenita, Hepatic steatosis, Atrial septal d... |
ORPHA:254346 |
| Burn-Mckeown Syndrome |
|
Ventricular septal defect, Hypomimic face, Atrial septal defect |
OMIM:608572 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Facial hypotonia, Periventricular leukomalacia, Microcep... |
OMIM:618798 |
| Cardiac Valvular Defect, Developmental |
|
Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Edema, Mitral stenosis, Tricuspid valv... |
OMIM:212093 |
| Focal Dermal Hypoplasia |
|
Hypoplastic nipples, Myelomeningocele, Umbilical hernia, Short stature, Ectopia lentis, Chorioret... |
OMIM:305600 |
| Cowden Syndrome 5 |
|
Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, Hydrocele te... |
OMIM:615108 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Congenital hypothyroidism, Gonadotropin deficiency, Elevated circulati... |
OMIM:610978 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity |
OMIM:616166 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Microphthalmia, Growth delay, Mitral valve p... |
ORPHA:2556 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Hypogonadism, Hydrocep... |
OMIM:300514 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Spina bifida occulta, Transposition of the great arteries, Perimembranous ventricular septal defe... |
OMIM:617877 |
| Brachydactyly, Type B1 |
|
Ventricular septal defect, Joint contracture of the hand, Camptodactyly |
OMIM:113000 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Ventricular septal defect, Hepatomegaly, Hepatic fibrosis, Peripheral pulm... |
ORPHA:84064 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Microcephaly |
OMIM:613398 |
| 15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microcephaly |
ORPHA:261190 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus |
OMIM:614779 |
| Porphyria Cutanea Tarda |
|
Abnormal erythrocyte enzyme level, Elevated hepatic iron concentration, Hepatocellular carcinoma,... |
ORPHA:101330 |
| Noonan Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Tricuspid valve pr... |
OMIM:609942 |
| Cowden Syndrome 6 |
|
Goiter, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Ovarian cyst, Hydrocele te... |
OMIM:615109 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus |
OMIM:314390 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Hypoplasia of the corpus callosum, Hydrocephalus |
OMIM:605627 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... |
ORPHA:457059 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Hypoplastic nipples, Anencephaly, Ascites, Holoprosencep... |
OMIM:269860 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilation of lateral ventricles, Ventricular septal defect, Contractures of the large joints, Micr... |
ORPHA:3078 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Transposition of the great arteries, Cryptorchidism, Patent foramen ovale |
OMIM:616789 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Hypoparathyroidism, Mitral valve prolapse, Lymphedema |
OMIM:247410 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin level, Left ven... |
OMIM:615474 |
| Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Ventricular septal defect, Congenital diaphragmatic hernia, Hepatic age... |
ORPHA:1692 |
| Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Coarctation of aorta, Camptodactyly of finger, Pulmo... |
ORPHA:2876 |
| Char Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Supernumerary nipple |
ORPHA:46627 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot |
OMIM:600123 |
| Thoracoabdominal Syndrome |
|
Ectopia cordis, Anencephaly, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... |
OMIM:313850 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia, Tricuspid valve prolapse, Cryptorchidism, Umbilical hernia |
ORPHA:1101 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Macroglossia, Cardiomegaly, Patent ductus arteriosus, Pr... |
ORPHA:96191 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Dysplastic corpus callosum, D... |
OMIM:619103 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial... |
OMIM:610733 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... |
OMIM:610338 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Thyroid hypoplasia, Mitral atresia, Subvalvular aortic stenosis, Hepatosplenomeg... |
OMIM:619503 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Abnormal corona... |
ORPHA:980 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
| Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Increased serum insulin-like growth factor 1, Atrial septal defect, Di... |
OMIM:270450 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Atrial septal defect, Flexion contracture, Cryptorchidism, Hypoplasia ... |
OMIM:617452 |
| Distal Trisomy 5Q |
|
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, M... |
ORPHA:96097 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Ventricular septal defect, Pericardial effusion, Joint contracture of the hand, Pleur... |
OMIM:235510 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:145420 |
| Ogden Syndrome |
|
Ventricular septal defect, Torticollis, Cerebral atrophy, Pulmonary artery stenosis, Cryptorchidism |
ORPHA:276432 |
| Codas Syndrome |
|
Ventricular septal defect, Extrahepatic biliary duct atresia |
ORPHA:1458 |
| Aphalangy With Hemivertebrae |
|
Ventricular septal defect |
OMIM:207620 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, R... |
OMIM:619371 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Macroglossia, Abnormal heart morphology, Camptodactyly, Cryptorchidism... |
ORPHA:369891 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Ventricular septal defect, Limb joint contracture, Atrial septal defect, Aplasia/Hypoplasia of th... |
ORPHA:505237 |
| Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect, Microcephaly, Supernumerary nipple |
ORPHA:3255 |
| Chromosome 18Q Deletion Syndrome |
|
Ventricular septal defect, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Patent duct... |
OMIM:601808 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Microc... |
ORPHA:457193 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... |
ORPHA:1780 |
| Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cryptorchidism, Patent foramen ovale, Microcephaly |
OMIM:618950 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Agenesis of corpus callosum, Patent ductus arteriosus |
ORPHA:52055 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Microcephaly, Hypoplasia of the thymus |
ORPHA:40366 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aortic root aneurysm, Atrial septal defect, Camptodactyly, Cryptorchidism |
OMIM:301039 |
| Rere-Related Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Ventricular septal defect, Hypoplasia of the corpus callosum, Cryptorc... |
ORPHA:494344 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Pulmonic stenosis, P... |
OMIM:100300 |
| Viss Syndrome |
|
Left aortic arch with retroesophageal right subclavian artery, Tortuous cerebral arteries, Aortic... |
OMIM:619472 |
| Fraser Syndrome 1 |
|
Abnormal cortical gyration, Myelomeningocele, Anophthalmia, Abnormal heart morphology, Bilateral ... |
OMIM:219000 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Hyperechogenic pancreas, Polyhydramnios, Atrial septal defect, Flexion... |
OMIM:605039 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
| Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Peripheral pulmonary artery stenosis, Atrial septal defe... |
ORPHA:52 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Mitral valve prolapse, Hypothyroidism, Lymphedema |
ORPHA:1563 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Atrial sep... |
ORPHA:26793 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Pheochromocytoma, Increased circulating cortisol level, Medullary thyroid carcinoma, Hyperparathy... |
OMIM:171400 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, H... |
OMIM:612582 |
| Zellweger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Primary adrenal insufficiency, Polymicrogyria, Hepatic f... |
ORPHA:912 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
| Cooper-Jabs Syndrome |
|
