Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Osteoid Osteoma |
|
Osteoma, Osteoid osteoma |
OMIM:259550 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Exostoses, Multiple, Type Iii |
|
Multiple exostoses |
OMIM:600209 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Exostoses Of Heel |
|
Exostoses |
OMIM:133600 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... |
ORPHA:1209 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Mic... |
OMIM:615524 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Oslam Syndrome |
|
Osteosarcoma, Neoplasm |
OMIM:165660 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral hypoplasia, Micrognathia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:618266 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Mmep Syndrome |
|
Ventricular septal defect, Mandibular prognathia, Microcephaly, Microphthalmia |
ORPHA:3434 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Micrognathia, Anophthalmia, Microphthalmia |
OMIM:221950 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Gombo Syndrome |
|
Microcephaly, Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Complete atrioventricular canal defect, Hypoplasia of the maxilla, Atrioventric... |
OMIM:619142 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta |
OMIM:217085 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Premature Aging Syndrome, Okamoto Type |
|
Osteosarcoma, Neoplasm, Abnormal hair morphology |
OMIM:601811 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... |
OMIM:619371 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Atrial septal defect, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Tetralogy of Fallot, ... |
OMIM:601322 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Atrial septal defect |
OMIM:615297 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Micrognathia, Microcephaly, Ventr... |
OMIM:619343 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Ventricular septal defect, Secondary microcephaly, Short ... |
OMIM:614326 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Microcephaly, 11 pairs of ribs, Coarctation of aorta, Po... |
OMIM:264480 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Microcephaly, Hypoplasia of the pons, Ventricular septal defect, Thin corpu... |
OMIM:614249 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Microcephaly, Short middle phalanx of finger, Short thumb |
ORPHA:391646 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Pierre Robin Syndrome |
|
Micrognathia, Cor pulmonale |
OMIM:261800 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Malar flattening, Microcephaly, Tetralogy of Fallot, Mandibular... |
ORPHA:1919 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Cyanosis And Hepatic Disease |
|
Cyanosis |
OMIM:219400 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Osteochondroma |
OMIM:127820 |
Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... |
OMIM:306955 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:477817 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Dextrocardia, Overriding aorta, Coarctation of aorta |
OMIM:616145 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Cerebral atrophy, Malar flattening, Pulmonic... |
OMIM:179613 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... |
OMIM:220210 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microcephaly, Atrial septal defect, Microphthalmia |
ORPHA:3469 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Epidermodysplasia Verruciformis, X-Linked |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Eruption failure, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal defect... |
ORPHA:476126 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... |
OMIM:613426 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Patent foramen ovale |
OMIM:619699 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Microcephaly, Persistence of primary teeth |
OMIM:618506 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Micrognathia, Trismus, Abnormal heart morphology |
OMIM:218450 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Bowen Syndrome Of Multiple Malformations |
|
Micrognathia, Agenesis of corpus callosum, Abnormal heart morphology |
OMIM:211200 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Abnormal coronary artery morphology, Ventric... |
ORPHA:99094 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Microcephaly, Ventricular septal defect, Hydranencephaly, Truncus... |
OMIM:601355 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... |
ORPHA:1461 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... |
OMIM:616749 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteosarcoma, Fibrosarcoma, Premature graying of hair |
OMIM:112250 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Microphthalm... |
ORPHA:77298 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Atrial septal defect, Secundum atrial septal defect, Coarctation of aorta, Ventricular septal def... |
OMIM:600987 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Stroke, Myofiber disarray, Muscular ventricular septal defect, Ventricu... |
OMIM:115197 |
Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus |
ORPHA:99811 |
Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Malar flattening, Atrioventricular canal def... |
OMIM:190685 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:617044 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Micrognathia, Single ventricle, Anophthalmia, Coarctatio... |
OMIM:601186 |
Arthrogryposis, Distal, Type 2E |
|
Micrognathia, Trismus, Microcephaly, Mild microcephaly |
OMIM:121070 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Cerebral... |
OMIM:613759 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Transposition of the great arteries, Perimembranous ventricular septal defect |
OMIM:617877 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Meckel Syndrome, Type 8 |
|
Microcephaly, Anophthalmia, Microphthalmia |
OMIM:613885 |
Mungan Syndrome |
|
Pulmonic stenosis, Perimembranous ventricular septal defect |
OMIM:611376 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrial septal defect, Microphthalmia, Atrioventricular canal defect, Micrognathia, Tetralogy of F... |
OMIM:600123 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Abnormal cerebral white matter morphology, Microcephaly, Ventricular s... |
OMIM:614947 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Meier-Gorlin Syndrome 7 |
|
Atrial septal defect, Aplasia/Hypoplasia of the patella, Ventricular septal defect, Complete atri... |
OMIM:617063 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... |
ORPHA:1354 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Cerebral atrophy, Pulmonary artery atresia |
ORPHA:306550 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Short sternum, Abnormal heart morphology |
OMIM:184800 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Microcephaly, Dilated cardiomyopathy |
ORPHA:2515 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Micrognathia, Cerebellar vermis hypoplasia, Dandy-Walker malformation |
OMIM:616901 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus callosum, Dan... |
OMIM:164180 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Rhizomelic Syndrome |
|
Pulmonic stenosis, Micrognathia, Rhizomelia, Microcephaly |
OMIM:268250 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, T... |
ORPHA:3426 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Abnormal heart mor... |
OMIM:614954 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembranou... |
ORPHA:363444 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cerebral cortical atrophy, Micrognathia, Microcephaly, Tetralogy of Fallot, Ventricular septal de... |
ORPHA:1166 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Micrognathia, Atrial septal defect |
OMIM:608227 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Microcephaly, Atrial septal defect, Periventricular leukomalacia |
ORPHA:357225 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Hypoplasia of the corpus callosum |
OMIM:616816 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Hypoplasia of the ulna, Ventricular septal defect, Mesomelia, Truncus arteriosus |
OMIM:228940 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the lower limbs, Micrognathi... |
ORPHA:40366 |
Cholesterol Pneumonia |
|
Cyanosis |
OMIM:215030 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Micrognathia, Atrial septal defect, Malar flattening |
ORPHA:1388 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short ribs, Micrognathia, Short tibia, Tetralogy of Fallot, Complete atrioventricular canal defec... |
OMIM:617925 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Micrognathia, Microcephaly, Tetralogy of Fallot, Ventricular septal defect,... |
ORPHA:1913 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Microcephaly, Coarctation of... |
ORPHA:2209 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:617021 |
Hydrolethalus |
|
Retrognathia, Micrognathia, Micromelia, Anophthalmia, Anencephaly, Arrhinencephaly, Agenesis of c... |
ORPHA:2189 |
Hamamy Syndrome |
|
Dental malocclusion, Short 2nd finger, Atrial septal defect, Micrognathia, Enamel hypoplasia, Com... |
OMIM:611174 |
Trisomy 1Q |
|
Macrocephaly, Microretrognathia, Anophthalmia, Cerebellar hypoplasia, Ventricular septal defect, ... |
ORPHA:261344 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart |
OMIM:616276 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... |
OMIM:600001 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Microretrognathia |
OMIM:618021 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Perimembranous ventricular septal defect |
OMIM:608104 |
Trisomy 13 |
|
Atrial septal defect, Malar flattening, Anophthalmia, Ventricular septal defect, Patent ductus ar... |
ORPHA:3378 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... |
ORPHA:1329 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Macrocephaly, Polymicrogyria, Ventricular septal defect, Mega... |
ORPHA:83473 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Cerebral atroph... |
OMIM:270100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Patent ductus arteriosus |
OMIM:619519 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Proximal tibial hypoplasia, Anencephaly, Upper limb undergrowth, Abnormal cortical ... |
OMIM:236680 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Micrognathia, Microcephaly, Ventricular septal defect, Abnormal a... |
ORPHA:2516 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Ventricular septal defect, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Microcephaly, Cerebellar hypoplasia, Tetralogy of Fallot, Pulmonary artery ... |
OMIM:612946 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Werner Syndrome |
|
Osteosarcoma, Meningioma, Alopecia of scalp |
OMIM:277700 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Subvalvular aortic stenosis, Patent ductus arteriosus |
ORPHA:1338 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia affecting the eye, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the cereb... |
ORPHA:1926 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Microcephaly, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal... |
ORPHA:261183 |
Isolated Dandy-Walker Malformation |
|
Dandy-Walker malformation, Tetralogy of Fallot, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:217 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Retrognathia, Micrognathia, Tetralogy of Fallot, Ventricular septal defect,... |
OMIM:612561 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Jaundice |
OMIM:614876 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... |
OMIM:615382 |
Pentasomy X |
|
Abnormal cardiac septum morphology, Small hand, Micrognathia, Microcephaly, Patent ductus arterio... |
ORPHA:11 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot |
ORPHA:3303 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Sparse scalp hair, Premature graying of hair, Absent eyebrow, Sparse hair, Spar... |
OMIM:268400 |
Cat-Eye Syndrome (Type I) |
|
Micrognathia, Abnormal heart morphology |
DECIPHER:42 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Shortening of all distal phalanges of the fingers, Atrioventricular canal ... |
OMIM:619135 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Dextrocardia, Coronary artery fistula |
OMIM:614294 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Retrognathia, Micrognathia, Microcephaly, Hypoplastic right heart, Hypoplas... |
OMIM:618142 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Myopathy, Congenital, Nonprogressive |
|
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:619967 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:618652 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:619189 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microcephaly, Microretrognathia, Tetralogy of Fallot |
ORPHA:276422 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Short distal phalanx of finger, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the distal phal... |
ORPHA:2513 |
Rothmund-Thomson Syndrome Type 1 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Alopecia to... |
ORPHA:221008 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Microcephaly, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:601450 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Cerebral atrophy, Prominence of the premaxil... |
OMIM:614886 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Rothmund-Thomson Syndrome Type 2 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Lymphoma, A... |
ORPHA:221016 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Cyanosis |
OMIM:263000 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Microcephaly, Anophthalmia, Hypoplasia of the corpus callosum, Ventricula... |
OMIM:206900 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Macrocephaly, Retrognathia, Pulmonic stenosis, Optic nerve hypopla... |
OMIM:301056 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Oculoauriculofrontonasal Syndrome |
|
Macrocephaly, Micrognathia, Microcephaly, Ventricular septal defect, Pericallosal lipoma |
ORPHA:398156 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Mandibular prognathia, Malar flattening, Aplasia/Hypoplasia of the dis... |
ORPHA:94066 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect |
OMIM:620024 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Hand oligodactyly, Absent thumb, Hypopl... |
OMIM:156810 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thick corpus callosum, Macrocephaly, Atrial septal defect, Abnormally large globe, Hypoplasia of ... |
OMIM:603387 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Micrognathia, Microcephaly, Carious teeth, Ventricular septal defect, Patent... |
OMIM:613680 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect |
OMIM:613355 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Lambotte Syndrome |
|
Retrognathia, Ventricular septal defect, Microcephaly |
OMIM:245552 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... |
OMIM:601005 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Microcephaly, Tetralogy of Fallot, Hypoplasia of the corpus callosum, Ventr... |
OMIM:300887 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:618974 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de... |
OMIM:600309 |
Chronic Intestinal Pseudoobstruction |
|
Patent ductus arteriosus |
ORPHA:2978 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Cerebral cortical atrophy, Micrognathia, Microcephaly, Hypertrophic cardiomyopathy, Aplasia/Hypop... |
ORPHA:3173 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Patent ductus arteriosus |
OMIM:122430 |
Fibrous Dysplasia Of Bone |
|
Elevated circulating growth hormone concentration, Thyroid carcinoma, Ovarian cyst, Testicular ne... |
ORPHA:249 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Optic nerve hypoplasia, Micr... |
OMIM:301043 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Partial diaphragmatic absence of pe... |
ORPHA:2847 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Macrocephaly, Abnormally large globe |
OMIM:618504 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... |
ORPHA:392 |
Sotos Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Muscular ventricular s... |
OMIM:117550 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Ventricular septal defect, Rhizomelia, Microphthalmia, Agenesis of corpus callosum |
ORPHA:93267 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Cavum septum pellucidum, Polymicrogyria, Ventricular septal defect, Microphthalmia, Megalencephal... |
OMIM:602501 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Micrognathia, Microcephaly, Ventricular septal defect, Patent ductus arteriosus, Pachygyria, Agen... |
ORPHA:452 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... |
OMIM:617478 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:611134 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, At... |
OMIM:158170 |
Aminopterin/Methotrexate Embryofetopathy |
|
Micrognathia, Microcephaly, Micromelia, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresi... |
ORPHA:1908 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus |
OMIM:615147 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Patent ductus arteriosus |
ORPHA:1952 |
Baller-Gerold Syndrome |
|
Osteosarcoma, Lymphoma |
ORPHA:1225 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Microcephaly, Micromelia, Aplasia/Hypoplasia of the cerebellum, Ventricul... |
ORPHA:2772 |
Walker-Warburg Syndrome |
|
Macrocephaly, Macrogyria, Microcephaly, Anophthalmia, Cerebellar hypoplasia, Polymicrogyria, Abno... |
ORPHA:899 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hypoplastic left heart, Atrioventricular canal defect, Microg... |
ORPHA:251071 |
Lambert Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Malar flattening |
ORPHA:1296 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcephaly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Microphthalmia, Agenesis of co... |
ORPHA:139471 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Situs inversus totalis, Abnorma... |
ORPHA:244 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Lipoma, Anencephaly, Multiple lipomas, Spina bifida occulta |
OMIM:182940 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Pulmonic stenosis, Micrognathia, Microcephaly, Ventricular septal ... |
OMIM:619123 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Short toe, Atrial septal defect, Malar flattening |
OMIM:613458 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Muscular ventricular septal defect |
ORPHA:66634 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Stroke, Coronary artery stenosis |
OMIM:615812 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect |
OMIM:619227 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Jaundice, Atrial septal defect |
ORPHA:290 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage, Bicuspid aortic valve |
OMIM:300049 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Palmoplantar cutis laxa, V... |
OMIM:615355 |
Cockayne Syndrome Type 2 |
|
Hypoplasia of the primary teeth, Anophthalmia, Subcortical white matter calcifications, Enamel hy... |
ORPHA:90322 |
Microphthalmia With Limb Anomalies |
|
Hand oligodactyly, Retrognathia, Anophthalmia, Microphthalmia, Fibular hypoplasia, Foot oligodactyly |
OMIM:206920 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Coarctation of aorta,... |
ORPHA:371428 |
Autosomal Recessive Amelia |
|
Abnormal cardiac septum morphology, Micrognathia, Acromelia of the lower limbs, Amelia, Amelia in... |
ORPHA:1027 |
Transketolase Deficiency |
|
Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, Patent ductus a... |
ORPHA:488618 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... |
OMIM:620067 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Micrognathia, Microcephaly, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1727 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:613870 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Malar flattening, Micrognathia, Patent ductus arteriosus, Hypoplasia of the... |
OMIM:241310 |
Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cerebral atrophy, Right ventricular hypertr... |
OMIM:614261 |
Mcdonough Syndrome |
|
Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Micrognathia... |
OMIM:248950 |
Char Syndrome |
|
Patent ductus arteriosus |
OMIM:169100 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypoplasia of the brainstem, Bicuspid aortic valve, Macrocephaly, Microcephaly, Short 5th finger,... |
ORPHA:500159 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot |
ORPHA:2184 |
3C Syndrome |
|
Abnormal mitral valve morphology, Macrocephaly, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:7 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Secundum atrial septal defect, Hypoplasia of the pons, Ventricular septal defe... |
OMIM:619909 |
Renal Tubular Dysgenesis |
|
Microcephaly, Tetralogy of Fallot |
ORPHA:3033 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect, Retrognathia, Micrognathia, Microcephaly, Macular hypoplasia |
OMIM:613792 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect |
OMIM:618569 |
Atypical Werner Syndrome |
|
Pili torti, Abnormal hair morphology, Ovarian neoplasm, Abnormal hair quantity, Abnormal hair who... |
ORPHA:79474 |
Grange Syndrome |
|
Carotid artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis |
OMIM:602531 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Aortic aneurysm, Coarctati... |
OMIM:606519 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... |
ORPHA:2326 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Micrognathia, Microcephaly, Hypoplasia of the corpus callosum, Ventricular septal defect, Patent ... |
OMIM:613457 |
Solitary Median Maxillary Central Incisor |
|
Microcephaly, Anophthalmia, Microphthalmia |
OMIM:147250 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... |
ORPHA:391641 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Aplasia of the phalanges of the toes, Aphalangy of hands and feet |
OMIM:207620 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Retrognathia, Microcephaly, Ventricular septal defect, Partial agenesi... |
OMIM:234050 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:608406 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Paten... |
ORPHA:2328 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Micromelia, Hypoplasia of the corpus callosum, Ventricular septal ... |
ORPHA:508488 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Vascu... |
ORPHA:2041 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Hypoplastic vertebral bodies, Macrocephaly, Cerebral calcifica... |
ORPHA:1782 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect |
OMIM:615502 |
Noonan Syndrome 12 |
|
Ventricular septal defect, 11 pairs of ribs, Tetralogy of Fallot |
OMIM:618624 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Cyanosis, Chylopericardium |
ORPHA:2414 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Emanuel Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Cerebral atrophy, Pulmonic stenosis, Micrognathia, M... |
OMIM:609029 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot |
OMIM:613630 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Macrocephaly, Atrial septal defect, Cerebellar hypoplasia, Ventri... |
OMIM:300963 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Transposition of the great arteries, Absent radius, Atrioventricular canal defect |
OMIM:314390 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Chronic sinusitis, Primum atrial septal defect, Situs inve... |
OMIM:619608 |
Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Atrial septal defect, Anophthalmia, Arrhinencephaly, Amelia, Abnormal cortical gyrat... |
ORPHA:2538 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Cortical dysplasia, Cerebellar hypopl... |
OMIM:613001 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hy... |
ORPHA:2256 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, Secondary microcephaly |
ORPHA:3369 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... |
OMIM:619149 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart morphology, Tetr... |
ORPHA:1686 |
Isotretinoin Embryopathy-Like Syndrome |
|
Micrognathia, Conotruncal defect |
OMIM:243440 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Short thumb, Pulmonary artery atresia, Ventricular septal defect, Truncus a... |
ORPHA:401935 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Thin corpus callosum |
OMIM:616277 |
Alg12-Cdg |
|
Biventricular hypertrophy, Patent ductus arteriosus, Patent foramen ovale, Muscular ventricular s... |
ORPHA:79324 |
Frank-Ter Haar Syndrome |
|
Double outlet right ventricle, Dental malocclusion, Atrial septal defect, Secundum atrial septal ... |
OMIM:249420 |
Microphthalmia, Syndromic 2 |
|
Double outlet right ventricle, Dental malocclusion, Supernumerary tooth, Persistence of primary t... |
OMIM:300166 |
Blackfan-Diamond Anemia |
|
Malignant genitourinary tract tumor, Low anterior hairline, Adenocarcinoma of the colon, Myelodys... |
ORPHA:124 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Atrioventricular canal defect, Coarctation of aorta, Tetralogy of Fallot, ... |
ORPHA:508498 |
Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Short thumb |
ORPHA:3449 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Bicuspid aortic valve, Stroke, Descendin... |
ORPHA:91387 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy |
OMIM:607598 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Micrognathia... |
ORPHA:2306 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Amelia, Ventricular septal defect, Foot oligodactyly, Absent septum pellucidum |
OMIM:601357 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Macrocephaly, Aortic valve atresia, Microcephaly, Partial absence ... |
OMIM:619895 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect |
OMIM:618651 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Retrognathia, Micrognathia, Microcephaly, Coarctation of aorta, Hy... |
ORPHA:2409 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Patent ductus arteriosus, Vascular dilatation |
OMIM:220220 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Optic nerve h... |
OMIM:609053 |
Short Stature-Micrognathia Syndrome |
|
Retrognathia, Micrognathia, Microcephaly, Ventricular septal defect, Rhizomelia |
OMIM:617164 |
Apert Syndrome |
|
Ventricular septal defect, Overriding aorta |
OMIM:101200 |
X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Macrocephal... |
ORPHA:163956 |
Silver-Russell Syndrome 3 |
|
Patent ductus arteriosus |
OMIM:616489 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Tricuspid valve prolapse, Macrocephaly, Microretrognathia, Atrioventricular canal defect, Microce... |
ORPHA:276413 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Microcephaly, Carious teeth, Ventricular septal defect, Patent ductus arteriosus, R... |
OMIM:147770 |
Filippi Syndrome |
|
Serrated incisors, Ventricular septal defect, Microcephaly |
OMIM:272440 |
Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal heart morphology, Short toe, Short femur, Short tibia... |
ORPHA:93323 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Cyanosis, Abnormal coronary artery morp... |
ORPHA:980 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Stankiewicz-Isidor Syndrome |
|
Absent thumb, Retrognathia, Micrognathia, Ventricular septal defect, Truncus arteriosus, Patent d... |
OMIM:617516 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Short foot |
ORPHA:228399 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Patent duc... |
ORPHA:1880 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Retrognathia, Micrognathia, Small hand, Microcephaly, Hypoplasia of the cor... |
OMIM:270450 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Patent ductus arteriosus |
ORPHA:2863 |
Proboscis Lateralis |
|
Macrocephaly, Abnormal facial skeleton morphology, Optic nerve hypoplasia, Abnormal ethmoid bone ... |
ORPHA:141099 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:2412 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:616867 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Abnormal cardiac septum morphology, Microphthalmia, Micrognathia, Microcephaly, Hypoplasia of the... |
ORPHA:1352 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Macrocephaly, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpu... |
OMIM:617751 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia affecting the eye, Atrioventricular canal defect, Aplasia/Hypoplasia of the th... |
ORPHA:2549 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Tetralogy of Fallot |
ORPHA:3186 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect |
OMIM:616898 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Anophthalmia, Hypoplasia of the maxilla, Mandibular prognathia, Aniridia |
ORPHA:1101 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Ventricular septal defect, Perimembranous ventricular septal defect |
OMIM:301040 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Diamond-Blackfan Anemia 1 |
|
Myelodysplasia, Osteosarcoma, Colon cancer |
OMIM:105650 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Macrocephaly, Microcephaly, Anophthalmia, Aplasia/Hypoplasia... |
ORPHA:2162 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Tetralogy of Fallot |
ORPHA:1381 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... |
ORPHA:363705 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Small hand, Micrognathia, Restrictive cardiomyopathy, Microcephaly, Cerebellar hypoplasia, Partia... |
OMIM:616051 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cyanosis, Dextrocardia, Hypoxemia, Abnormal pulmonary artery morph... |
ORPHA:2257 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Transposition of the great arteries, Cerebral cavernous malformation, Secundum atrial septal defe... |
OMIM:619910 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
Heart And Brain Malformation Syndrome |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventricular septal defect, Cer... |
OMIM:616920 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Hypoplastic left heart |
OMIM:617661 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus |
ORPHA:1516 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Left superior vena cava draining to coronary sinus, Limb undergrow... |
OMIM:619143 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect, Diffuse cerebral atrophy, Thin corpus callosum |
OMIM:619908 |
Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Relative macrocephaly, Atrioventricular canal defect, Pulm... |
OMIM:605275 |
Craniofacial Dyssynostosis With Short Stature |
|
Malar flattening, Hypoplasia of the corpus callosum, Ventricular septal defect, Patent ductus art... |
OMIM:218350 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Retrognathia, Micrognathia, Microce... |
ORPHA:2556 |
Transaldolase Deficiency |
|
Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:606003 |
Distal Monosomy 17Q |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus |
ORPHA:1597 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... |
ORPHA:335 |
Zimmermann-Laband Syndrome 3 |
|
Patent ductus arteriosus |
OMIM:618658 |
Hereditary Elliptocytosis |
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Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... |
ORPHA:288 |
Diamond-Blackfan Anemia 12 |
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Ventricular septal defect |
OMIM:615550 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Cerebral hemorrhage, Spinal arteriovenous malformation, Dilatation of celiac artery, Cyanosis, Ar... |
OMIM:610655 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |