Adie Pupil |
|
Tonic pupil |
OMIM:103100 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate |
OMIM:611867 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Ventricular septal defect, Intestinal malrotation, Short... |
ORPHA:401935 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Atypical scarring of ... |
ORPHA:294975 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Right aortic arch, Transposition of the... |
OMIM:231060 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, P... |
OMIM:601927 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal aortic morphology, Truncus... |
ORPHA:2516 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... |
OMIM:617478 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu... |
OMIM:613490 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb undergrowth, Tet... |
OMIM:613630 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... |
OMIM:601186 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Bowing of the long bones, Ventricular septal defect, Proximal placement of thumb, Ab... |
ORPHA:93267 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... |
OMIM:601357 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co... |
OMIM:615731 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio... |
OMIM:249670 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mitral stenosis, Cam... |
ORPHA:2008 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Omphalocele, Ventricular septal defect, Exaggerated cupid's b... |
OMIM:618316 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B... |
OMIM:616589 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At... |
OMIM:306955 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
Emanuel Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Ventricular septal defect, Truncus arteriosus, Denta... |
OMIM:609029 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morpholog... |
ORPHA:254534 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Hydr... |
OMIM:617022 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati... |
ORPHA:96170 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Clinodactyly, Hip dislocatio... |
OMIM:615583 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Fibrochondrogenesis 1 |
|
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... |
OMIM:228520 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Patent ductus ... |
OMIM:179613 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Pneumothorax, Bronchiectasis, Abnormal pulmonary ... |
OMIM:612387 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2n... |
ORPHA:1388 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect, Absent thumb |
OMIM:615272 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Missing ribs, Double outlet right ventricle, Cleft palate,... |
OMIM:220210 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Polyhydramnios, Coxa va... |
OMIM:608149 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Hypoplastic tricuspi... |
OMIM:600001 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, ... |
ORPHA:261344 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A... |
OMIM:201000 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Broad hallux, Abnormality ... |
OMIM:618529 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Abnormal heart morphology |
OMIM:614100 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbin... |
ORPHA:3304 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, P... |
ORPHA:1263 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Cataract, Ventricular septal defect, Epiphyseal stippling |
OMIM:614876 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Posterior embryotoxon, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary arter... |
OMIM:617992 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Postaxial polydactyly, Hypoplastic ilia, Hypo... |
OMIM:617895 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum |
ORPHA:1906 |
Mmep Syndrome |
|
Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, Triphalangeal thumb |
ORPHA:3434 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Exaggerated cupid's bow, Deep philtr... |
ORPHA:261120 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Small hand, Mitra... |
ORPHA:2868 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Ventricular septal defect, Sand... |
OMIM:158170 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... |
ORPHA:261330 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Abnormal heart valve morphology |
ORPHA:171719 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Femoral bowing, Stillbirth, Aortic valve stenosis, Pu... |
OMIM:615415 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Abnormal upper lip morphology, Omphalocele, Polyhydramnios |
ORPHA:531 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Patent f... |
OMIM:269860 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic ... |
OMIM:619657 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Polyhydramnios, Congenital diaphragmatic hernia, Metaphyseal widening, Flexion contr... |
OMIM:263210 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... |
OMIM:313850 |
Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventric... |
ORPHA:2729 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Short thumb, Patent ductus a... |
OMIM:612561 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... |
ORPHA:1354 |
Mosaic Trisomy 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmonary ... |
ORPHA:1692 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Secundum atrial septal defect, Incr... |
OMIM:620183 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Omphalocele, Bowing of the long bones, Coxa valga, Abnormal rib morpho... |
ORPHA:2484 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Triploidy |
|
Omphalocele, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Cl... |
ORPHA:3376 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma, Tetralogy of Fallot |
OMIM:187501 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Em... |
ORPHA:36412 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyl... |
OMIM:617516 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios |
OMIM:619967 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Fryns Syndrome |
|
Tented upper lip vermilion, Polyhydramnios, Congenital diaphragmatic hernia, Abnormal aortic arch... |
ORPHA:2059 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Narrow mouth, Atria... |
ORPHA:3469 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... |
ORPHA:251076 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Acalvaria |
|
Omphalocele, Postaxial hand polydactyly, Cleft palate |
ORPHA:945 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
C Syndrome |
|
Omphalocele, Short metacarpal, Toe syndactyly, Ventricular septal defect, Accessory oral frenulum... |
OMIM:211750 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... |
ORPHA:2515 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the ... |
ORPHA:371428 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Venous ... |
ORPHA:90308 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete... |
OMIM:264480 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, S... |
OMIM:145420 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, San... |
ORPHA:477817 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Ventricular septal defect, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at... |
OMIM:616894 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Widely spaced teeth, Clinodac... |
OMIM:619717 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o... |
ORPHA:1329 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Abnorma... |
ORPHA:1166 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Downturned corners of mouth, High palate, L... |
ORPHA:1707 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypopl... |
ORPHA:94066 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
3Mc Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Dental crowding, Single interphalangeal crease of fifth f... |
OMIM:257920 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Thin vermilion border, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ... |
ORPHA:2092 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Humeroradial synostosis, Rib fusion, Pulmonic stenosis, Truncus arterios... |
OMIM:134780 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Osteopathia striata, High palate, Clinodactyly of the 5th finger... |
OMIM:300373 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal heart valve morphology, Cleft palate, Abnormal aortic valve morphology,... |
ORPHA:577 |
Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic ro... |
OMIM:616652 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... |
OMIM:600373 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve morphology, Tetralogy ... |
ORPHA:1919 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A... |
ORPHA:2209 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia... |
OMIM:620365 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Hamartoma of t... |
OMIM:616300 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Aplastic clavicle, Hi... |
ORPHA:2538 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticu... |
OMIM:618278 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu... |
OMIM:619534 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Thin upper lip vermilion, Prominent fingertip pads, Congenital hip dislocation, Toe ... |
OMIM:609625 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Polyhydramnios, Congenital diaphragmatic hernia, Preaxial hand po... |
ORPHA:887 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad thumb, Smooth philtrum, Brachy... |
OMIM:614526 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Mitral valve prolapse, Long philtrum, Joint contracture of the hand, Camptodactyly |
OMIM:211960 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Cl... |
OMIM:117650 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Phalangeal dislocation |
ORPHA:85174 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Tachypnea, Hepatocellular necrosis, Periportal fibrosis, Respiratory ... |
OMIM:201475 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Anodonti... |
ORPHA:90652 |
Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Gastroschisis, Ectopia ... |
OMIM:217100 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgitation, Single ventricle, O... |
OMIM:619879 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria... |
OMIM:612946 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges, Clinodactyly of t... |
OMIM:314320 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Tetralogy of Fallot |
OMIM:615542 |
Megalocornea |
|
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... |
OMIM:309300 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619189 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Meckel diverticulum, Long philtrum |
OMIM:190440 |
Down Syndrome |
|
Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular canal defect, Patent f... |
OMIM:190685 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft palate, Unilateral... |
ORPHA:63862 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s... |
ORPHA:101028 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ventricular septal defect, Short toe, Patent ductus arteriosus, O... |
ORPHA:1519 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... |
OMIM:620393 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Broad secon... |
ORPHA:3369 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, High palate, Atrial septal defect, Patent foramen ovale, Cleft l... |
ORPHA:2745 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa... |
OMIM:600987 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Polyhydramnios... |
OMIM:247200 |
Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Leukocytosis, Myocardial eosinophilic infiltration, Anemia, T... |
OMIM:131400 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Omphalocele, Hypoplastic scapulae, Coxa valga, Flared m... |
OMIM:309350 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:601163 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Fryns Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Polyhydramnios, Prominent fingertip pads... |
OMIM:229850 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Anterio... |
OMIM:618624 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital dia... |
OMIM:618454 |
Hypophosphatasia |
|
Anemia, Emphysema, Respiratory insufficiency |
ORPHA:436 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth... |
OMIM:618974 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atr... |
OMIM:243150 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Pulmonic stenosis, Aortic valve... |
ORPHA:3449 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Cleft palate... |
ORPHA:2021 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Rocker bottom foot, Wide mouth, Delayed erupt... |
OMIM:618506 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
Woolly Hair Nevus |
|
Brachydactyly, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... |
ORPHA:3405 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Wide mouth, Downturned corners of mout... |
OMIM:611816 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Prominent fingertip pads, Sandal gap, High, narrow palate, Patent ductu... |
OMIM:612863 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Inter... |
ORPHA:163979 |
Burn-Mckeown Syndrome |
|
Inguinal hernia, Ventricular septal defect, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Th... |
OMIM:608572 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Hig... |
OMIM:616166 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi... |
ORPHA:261190 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Patent ductus arteriosus, Deviation of finger, Abnor... |
ORPHA:2412 |
Lambert Syndrome |
|
Wide mouth, Branchial anomaly, Ventricular septal defect, Inguinal hernia |
ORPHA:1296 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Overlapping toe, Polyhydramnios,... |
ORPHA:254528 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment... |
ORPHA:166016 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... |
OMIM:256000 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch |
OMIM:300712 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... |
OMIM:192430 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect |
OMIM:613870 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cl... |
ORPHA:3186 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Inguinal hernia, Dental crowding, Arachnodactyly, Adducted thumb, Mitral valve prolapse, Atrophic... |
OMIM:615539 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, High palate, Short palm, Atrial septal defect, Short phalanx of fi... |
OMIM:249420 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg... |
OMIM:615355 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ... |
ORPHA:228399 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Genu valgum, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Cleft upper lip, Cleft palate, Cervical ribs, High palate |
OMIM:609654 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left v... |
OMIM:620203 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Polyhydramnios, High, narrow palate, Narrow palate, Cleft palate, High... |
OMIM:615102 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Prominent fingertip pads, Ventricular septal defect, Overlapping toe, H... |
OMIM:618494 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Coxa valga, Postaxial hand polydac... |
OMIM:301056 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Cleft maxillary alveolar ridge, Finger clinodactyly, ... |
ORPHA:508488 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... |
OMIM:127550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Metaphyseal spurs, ... |
ORPHA:85167 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... |
OMIM:263630 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow... |
ORPHA:83473 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria... |
ORPHA:261272 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatic necrosis, P... |
ORPHA:71212 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Mitral ... |
ORPHA:137834 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Ventricular sep... |
OMIM:615582 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat... |
OMIM:301043 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Preaxial hand polydactyly, Cervical ribs, Prune belly, Anal atresia |
OMIM:601389 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... |
ORPHA:1572 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Cardiorespiratory arres... |
ORPHA:26791 |
Alg9-Cdg |
|
Villous atrophy, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow... |
ORPHA:79328 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Hec Syndrome |
|
Cardiomyopathy, Abnormal pupil morphology, Developmental cataract, Endocardial fibroelastosis |
ORPHA:2119 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Asthma, Hepatic necrosis, Bronchospasm, Rhinorrhea |
ORPHA:100093 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Supravalva... |
OMIM:618164 |
Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Mitral valve prolapse |
OMIM:157700 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total... |
ORPHA:244 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, High palate, Abnormal morphology of ulna, Mitral valve prolapse |
ORPHA:2233 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Widely spaced teeth, High palate, Atrial septal defect, Microdontia, Promi... |
OMIM:612474 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, Tracheoesoph... |
ORPHA:1834 |
Meacham Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... |
OMIM:608978 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft ... |
OMIM:603194 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, Cleft palate, Or... |
ORPHA:2166 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand polydactyly... |
ORPHA:46627 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Intestinal malrotation, Abnormal rib morpho... |
ORPHA:3035 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... |
ORPHA:139466 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth... |
OMIM:612938 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Slender finger |
OMIM:147800 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Ventricular septal defect, Corneal dystrophy, Abnormal pupil... |
ORPHA:52 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... |
ORPHA:1120 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... |
ORPHA:1617 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Congenital diaphragmatic hernia, High, narrow palate,... |
ORPHA:373 |
Isolated Anencephaly |
|
Omphalocele, Cleft lip, Congenital diaphragmatic hernia |
ORPHA:563609 |
German Syndrome |
|
Camptodactyly of finger, Lymphedema, Orofacial cleft, Abnormal cardiac septum morphology, Everted... |
ORPHA:2077 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Deep philtrum, Knee flexion contracture, Downtu... |
ORPHA:435638 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Dental crowding, Mitral valve prolapse, High palate, Short philt... |
ORPHA:228410 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Thin vermilion border, Narrow mouth... |
OMIM:615502 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios... |
ORPHA:363705 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Patent ductus arte... |
ORPHA:2970 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Overlapping toe, Deep philtrum, Patent ductus arteriosus, Double outle... |
ORPHA:163956 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an... |
OMIM:602482 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Tetralogy of Fallot, Abnormality of the philtrum, Abnormality of the den... |
ORPHA:276422 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Interrup... |
OMIM:164280 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin ... |
OMIM:617877 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao... |
ORPHA:1596 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... |
OMIM:231680 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... |
OMIM:618142 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Broad hallux, Velopharyngeal insufficiency, Submucous cleft har... |
OMIM:619314 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Cleft... |
OMIM:614815 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect... |
OMIM:300166 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Intestinal malrotation, Polyhydramnios, Neoplasm of the heart, Umbilical hernia, Mic... |
ORPHA:2241 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Cleft lip, Pulmonary artery ... |
OMIM:280000 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Short philtrum, Atrial septal defect, Arachnodac... |
ORPHA:567 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Abnormal heart valve morphology... |
ORPHA:31204 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Thick lower lip vermilion, ... |
OMIM:618950 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... |
ORPHA:17 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios,... |
OMIM:616897 |
3C Syndrome |
|
High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Atrial septal defect, ... |
ORPHA:7 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Inguinal hernia, Submucous cleft hard palate, Flexion contracture, Epiphyseal stip... |
OMIM:222765 |
Stickler Syndrome Type 1 |
|
Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Long philtrum, Abnormal verte... |
ORPHA:90653 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Broad ha... |
OMIM:300963 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Polyhydramnios, Deep philtrum, Flexion contracture, Abnormal aortic a... |
ORPHA:96334 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Dias... |
ORPHA:329224 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu... |
ORPHA:538 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Mitral valve prolapse, Short palm, Failure of eruption of per... |
ORPHA:3238 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios... |
ORPHA:1199 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Decre... |
OMIM:619632 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft lip, Patent ductus arteriosus, Narrow palate, Cleft palate, Contracture of the proximal int... |
OMIM:618223 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Netherton Syndrome |
|
Asthma, Emphysema, Recurrent respiratory infections, Dehydration |
ORPHA:634 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Arachnodactyly, Cleft palate, Narrow mouth |
ORPHA:93946 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Cleft l... |
OMIM:619343 |
Marshall-Smith Syndrome |
|
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... |
OMIM:602535 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Atrial septa... |
OMIM:300887 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia |
ORPHA:95706 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Ventricular septal defect, Cleft lip, Cleft palate, Narrow mouth, Broad phil... |
ORPHA:398156 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Ventricular septal defect, Arachnodactyly, Edema, Cleft lip, Partial duplication o... |
OMIM:618348 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Cardioacrofacial Dysplasia 2 |
|
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep philtrum, Postaxial hand... |
OMIM:619143 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Thick lower lip ve... |
OMIM:220500 |
Filippi Syndrome |
|
Ventricular septal defect, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin ve... |
OMIM:272440 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Stillbirth, Single ventricle |
OMIM:308050 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Long fingers, Patent ductus arteriosus, Increased nuchal tra... |
OMIM:615668 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, E... |
ORPHA:2345 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect |
ORPHA:357225 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Short lingual frenulum, Anomalous origin of left coronary artery from the pulmonary artery, Midgu... |
ORPHA:2326 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Clinodactyly, Pierre-Robin sequence, Small hand... |
OMIM:619980 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Postaxi... |
OMIM:619142 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage... |
OMIM:314390 |
Trisomy 13 |
|
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... |
ORPHA:3378 |
Zechi-Ceide Syndrome |
|
Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Downturned corn... |
ORPHA:217017 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Arachnodactyly, Cleft lip, Partial duplication of thumb phalanx, Dilat... |
OMIM:616730 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios |
OMIM:616867 |
Abruzzo-Erickson Syndrome |
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Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Atrial... |
ORPHA:921 |
Myopathy, Tubular Aggregate, 1 |
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Abnormal pupil morphology |
OMIM:160565 |
46,Xx Sex Reversal 5 |
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Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Open mouth, Ventricular septal defect |
OMIM:616816 |
Pelger-Huet Anomaly |
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Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro... |
OMIM:169400 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, ... |
OMIM:613177 |
Orofaciodigital Syndrome Type 2 |
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Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short tibia, Atriov... |
ORPHA:2751 |
Fadd-Related Immunodeficiency |
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Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... |
OMIM:613658 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Dyspnea, Emphysema, Bronchiectasi... |
OMIM:181000 |
Distal Deletion 19P |
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Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Keloids, Short... |
ORPHA:96129 |
Beta-Mercaptolactate Cysteine Disulfiduria |
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Arachnodactyly, Sandal gap, Genu valgum, High palate, Atrial septal defect, Umbilical hernia |
ORPHA:1035 |
Robinow Syndrome, Autosomal Dominant 2 |
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Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... |
OMIM:616331 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acute hepatic failure, Hepatomegaly, Respiratory distress, Elevated circulating aspartate aminotr... |
OMIM:256810 |
Neuronal Intestinal Pseudoobstruction |
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Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
Inverted Duplicated Chromosome 15 Syndrome |
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Ventricular septal defect, 2-3 toe syndactyly, High palate, Short philtrum, Hernia, Clinodactyly ... |
ORPHA:3306 |
Lessel-Kreienkamp Syndrome |
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Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Bartsocas-Papas Syndrome 1 |
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Flexion contracture, Hypoplastic iliac wing, Short phalanx of finger, Patent foramen ovale, Infer... |
OMIM:263650 |
Desbuquois Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Coxa valga, Aplasia/Hypoplasia of the abdomin... |
ORPHA:1425 |
Ophthalmoplegia, Familial Static |
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Anisocoria |
OMIM:165000 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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High, narrow palate, Short 4th metacarpal, Mitral valve prolapse |
ORPHA:2183 |
Skraban-Deardorff Syndrome |
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Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... |
OMIM:617616 |
Cooper-Jabs Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co... |
ORPHA:1488 |
Lymphangiectasia, Intestinal |
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