Adie Pupil |
|
Tonic pupil |
OMIM:103100 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Short distal phalanx of finger, Truncus arteriosus, Cleft palate |
OMIM:601355 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate |
OMIM:611867 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... |
ORPHA:401935 |
Thymic Aplasia With Fetal Death |
|
Stillbirth, Truncus arteriosus |
OMIM:274210 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Genitopalatocardiac Syndrome |
|
Cleft upper lip, Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transpos... |
OMIM:231060 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of the ulna, Truncus arteriosus |
OMIM:228940 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Systolic heart murmur, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Ventricular septal defect, Abn... |
ORPHA:2516 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal defect, Thin upper li... |
OMIM:601927 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... |
OMIM:613490 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot |
OMIM:601348 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Upper limb undergrowth, Tetralogy of Fallot, Omphalocele, Lower ... |
OMIM:613630 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Overriding aorta, Adducted thumb, Hydrops fetalis, Long philtrum, Ove... |
OMIM:617022 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrial septal defect |
ORPHA:254351 |
Emanuel Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft palate, Congenital ... |
OMIM:609029 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... |
ORPHA:70589 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... |
OMIM:601186 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Abnormal rib morphology, ... |
ORPHA:93267 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Intestinal mal... |
ORPHA:3426 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Duodenal atresia, Primum atrial septal defect, Intestinal ... |
OMIM:619608 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Omphalocele |
OMIM:258320 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... |
OMIM:249670 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Acrocardiofacial Syndrome |
|
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Finger syndactyly, Cleft pa... |
ORPHA:2008 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Gingival overgrowth, Bicuspid aortic valve, Triangular mouth, Abnormality of the dentition, Long ... |
OMIM:618529 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... |
ORPHA:980 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Femoral bowing, Situs inve... |
OMIM:615415 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Brachydactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncu... |
OMIM:616589 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Ventricular septal defect, Bilateral cleft lip and palate, Omphaloc... |
OMIM:601357 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... |
OMIM:618316 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double outlet right ventr... |
OMIM:306955 |
Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Delayed erupt... |
ORPHA:96170 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Coat hanger sign of ribs, Ventricular septal defect, Polyhydramnios, Umbilical h... |
ORPHA:254534 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Radial deviation of the 2nd f... |
ORPHA:1388 |
Fibrochondrogenesis 1 |
|
Cleft palate, Omphalocele, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Cli... |
OMIM:228520 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Coronary artery aneurysm, Cardiomegaly, Abno... |
ORPHA:2041 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Gingival overgrowth, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:179613 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxe... |
OMIM:612387 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Aortic valve stenosis, Cleft p... |
OMIM:220210 |
Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Absent thumb |
OMIM:615272 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... |
ORPHA:99050 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Abnorma... |
ORPHA:1067 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Atrial septal defect, Flexion contracture, Inguinal hernia, Pulmonic stenosis, T... |
OMIM:608149 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Abnormal pericardium morphol... |
ORPHA:1335 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... |
OMIM:231100 |
Trisomy 1Q |
|
Anal atresia, Narrow mouth, Congenital diaphragmatic hernia, Cleft palate, Arachnodactyly, Campto... |
ORPHA:261344 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Ventricular septal defect, Aplasia/Hypoplasia... |
ORPHA:2476 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Atrial Septal Defect 5 |
|
Atrial septal defect |
OMIM:612794 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... |
ORPHA:1263 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Ventricular septal defect, G... |
OMIM:201000 |
Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Atrial septal defect, Cleft palate, Bifid uvula, Tetralogy of Fallot, Ventricula... |
OMIM:612561 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Ventricular septal defect, Umbilical hernia, Microcolon, Tetralogy o... |
OMIM:600001 |
Mmep Syndrome |
|
Split foot, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median cleft lip |
ORPHA:3434 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Cataract, Epiphyseal stippling, Glossoptosis |
OMIM:614876 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Abnormal heart morphology, Emphysema |
OMIM:614100 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
High palate, Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Overriding ... |
ORPHA:3304 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Long philtrum, Bra... |
OMIM:617895 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Tetralogy... |
OMIM:617992 |
Fetal Valproate Spectrum Disorder |
|
Narrow mouth, Thin vermilion border, Long philtrum, Downturned corners of mouth, Omphalocele |
ORPHA:1906 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge... |
OMIM:614326 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Long philtrum, Ventricu... |
ORPHA:261120 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Cleft palate, Abnormality of the dentition, Microcornea, Dela... |
ORPHA:2712 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... |
ORPHA:95430 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... |
ORPHA:1686 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Clinodactyly of the 5th finger, Pulmonic stenosis, Abnormality of the dentition, Sma... |
ORPHA:2868 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Emphysema |
ORPHA:171719 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Cleft palate, Branchial fistula, Ulnar deviation of finger, Pyloric stenosis, Ventricular septal ... |
ORPHA:261330 |
Chromosome 9P Deletion Syndrome |
|
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Inguinal her... |
OMIM:158170 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Miller-Dieker Syndrome |
|
Polyhydramnios, Clinodactyly of the 5th finger, Abnormality of upper lip, Omphalocele |
ORPHA:531 |
Microcoria, Congenital |
|
Miosis, Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... |
OMIM:616898 |
Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Ventricular septal defect, Median cleft lip and palate, Omphalocele, Short long... |
OMIM:269860 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect, Low-output c... |
ORPHA:99125 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Pulmonary va... |
OMIM:265380 |
Feingold Syndrome Type 2 |
|
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short ... |
ORPHA:391646 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... |
OMIM:126320 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology, Patent ductus arteriosus, Pulmonary artery atresia |
ORPHA:1208 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Metacarpophalangeal j... |
OMIM:619110 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Abnormal rib morphology, Ventricular sept... |
ORPHA:1354 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Narrow greater sciatic notch, Metaphyseal w... |
OMIM:263210 |
Thoracoabdominal Syndrome |
|
Cleft upper lip, Congenital diaphragmatic hernia, Cleft palate, Ectopia cordis, Ventral hernia, P... |
OMIM:313850 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Okamoto Syndrome |
|
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Cleft palat... |
ORPHA:2729 |
Mosaic Trisomy 1 |
|
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, ... |
ORPHA:1692 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Atrial septal defect, Abnormal morphology of the radius, Ventricular ... |
ORPHA:3469 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Grange Syndrome |
|
Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... |
ORPHA:79094 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Hepatomegaly, Splenomegaly, Cough, Angioedema, Restrictive ventilatory defect... |
ORPHA:36412 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Hepatic failure, Portal hypertension, Emphysema |
OMIM:210050 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... |
ORPHA:2484 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot, Developmental glaucoma |
OMIM:187501 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios |
OMIM:617021 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:1918 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Atrial fib... |
OMIM:614954 |
Atrioventricular Septal Defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Absent thumb, Short thumb, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:617516 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Triploidy |
|
Wide mouth, Narrow mouth, Abnormal cardiac septum morphology, Cleft palate, Macroglossia, Intesti... |
ORPHA:3376 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Pate... |
ORPHA:90308 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Myopathy, Congenital, Nonprogressive |
|
Polyhydramnios, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:619967 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... |
ORPHA:1727 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Pyloric stenosis, Ventri... |
OMIM:614262 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Thick vermilion... |
ORPHA:251076 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Acalvaria |
|
Postaxial hand polydactyly, Cleft palate, Omphalocele |
ORPHA:945 |
Fryns Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... |
ORPHA:2059 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Tongue fasciculations, Atrial septal defect |
OMIM:253300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, High, narrow palate, Ventricular septal defect, Dilated cardiomyo... |
ORPHA:2515 |
C Syndrome |
|
High palate, Wide mouth, Accessory oral frenulum, Dislocated radial head, Ulnar deviation of fing... |
OMIM:211750 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy |
ORPHA:1909 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... |
OMIM:132900 |
Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Anal atresia, Tricuspid atresia, 2-3 toe syndactyly, Atrial septal defect, 11 pa... |
OMIM:264480 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect, Umbilical her... |
ORPHA:2143 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... |
ORPHA:371428 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Clinodactyly of the 5th finger, Ventricular septal defect, Deep philtr... |
OMIM:619717 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... |
ORPHA:261243 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megac... |
OMIM:235750 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormality of lower lip, Abnormal... |
ORPHA:1166 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Triangular mouth, Cleft palate, Ventricular septal defect, Anteriorly placed anus, Omphalocele, A... |
OMIM:616894 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... |
ORPHA:1329 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, O... |
ORPHA:477817 |
Zimmermann-Laband Syndrome 3 |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... |
OMIM:618658 |
3Mc Syndrome 1 |
|
Cleft upper lip, Abnormality of the abdominal wall, Clinodactyly of the 5th finger, Atrial septal... |
OMIM:257920 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect |
OMIM:277740 |
Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Short philtrum, Ventricular septal defect, Widely-spaced maxillary central ... |
OMIM:608227 |
Distal Trisomy 15Q |
|
High palate, Anal atresia, Arachnodactyly, Camptodactyly of finger, Long philtrum, Downturned cor... |
ORPHA:1707 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:617044 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Broad distal phalanx o... |
OMIM:311300 |
Tetralogy Of Fallot |
|
Thin vermilion border, Clinodactyly of the 5th finger, Brachydactyly, Tetralogy of Fallot |
ORPHA:3303 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... |
ORPHA:93316 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Hypertension, Pulmonary ar... |
OMIM:613355 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... |
OMIM:251880 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Clinodactyly |
OMIM:618506 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the distal phalanges of the han... |
ORPHA:94066 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Lymphopenia, Aplasia of the thymus, Abnormally low T cell ... |
OMIM:242700 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... |
OMIM:618782 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Cleft palate, Ventricular septal defect, Broad ribs, Omphalocele, Thick lower lip ve... |
OMIM:300373 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Maternal Phenylketonuria |
|
High palate, Double outlet right ventricle, Hypoplastic left heart, Long philtrum, Coarctation of... |
ORPHA:2209 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fallot, Unilateral cleft lip, Aplas... |
ORPHA:1919 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Abnormality of the dentition, Ventricular septal defect, Hypo... |
ORPHA:2092 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Polyhydramnios, Interrupted aortic arch |
OMIM:616920 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Clinodactyly of the 5th finger, Hyperphalangy of the 2nd finger, Cl... |
OMIM:616145 |
Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Rib fusi... |
OMIM:134780 |
Mucolipidosis Type Iii |
|
Large iliac wing, Inguinal hernia, Cleft palate, Abnormal hip bone morphology, Abnormal aortic va... |
ORPHA:577 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Small hand, Long philtrum, Ventricular septal defect, Aortic root aneurysm,... |
OMIM:145420 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Absent thumb, Pulmonic stenosis, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomyopathy,... |
OMIM:231530 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Codas Syndrome |
|
Anal atresia, Metaphyseal dysplasia, Atrial septal defect, Delayed ossification of carpal bones, ... |
OMIM:600373 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Genu valgum, Cataract, Abnorma... |
ORPHA:1381 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... |
ORPHA:2255 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, Esophageal varix, Gene... |
OMIM:619534 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... |
OMIM:618280 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Delayed eruption of teeth, Macroglossia, Omphalocele |
OMIM:614450 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Atrial septal defect, Cleft palate, Inguinal h... |
OMIM:608572 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Absent thumb, At... |
ORPHA:392 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Inguinal hernia, Long philtrum, Camptodactyly, Mitral valve prolapse |
OMIM:211960 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Single ventricle, Mitral regurgitation, Oligohydramnios, Increased nucha... |
OMIM:619879 |
Vacterl/Vater Association |
|
Anal atresia, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palate, ... |
ORPHA:887 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Progeroid Facial Appearance With Hand Anomalies |
|
Reduced subcutaneous adipose tissue, Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion... |
OMIM:602249 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Open mouth |
OMIM:616816 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Pseudodiastrophic Dysplasia |
|
Phalangeal dislocation, Omphalocele |
ORPHA:85174 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Ebstein Malformation Of The Tricuspid Valve |
|
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... |
ORPHA:1880 |
Trigonocephaly With Short Stature And Developmental Delay |
|
High palate, Clinodactyly of the 5th finger, Inguinal hernia, Ventricular septal defect, Broad al... |
OMIM:314320 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Cleft palate, Omphalocele, Bowing of the long bones, Carpal s... |
ORPHA:90652 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Hypodontia, Ectopia pupillae, Posterior embryotoxon, Microdontia, Hypoplasi... |
OMIM:602482 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Camptodactyly, Ventricu... |
OMIM:613458 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Perineal fistula, Anal atre... |
ORPHA:2538 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... |
OMIM:612946 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... |
ORPHA:2669 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Microdontia, Tetralogy of Fallot, Ventricular septal defect, Pa... |
OMIM:601005 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Situs inver... |
OMIM:605376 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Transaldolase Deficiency |
|
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Te... |
ORPHA:101028 |
Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Cleft palate, Camptodactyly of finger, Short philtrum... |
ORPHA:1617 |
Constricting Bands, Congenital |
|
Cleft upper lip, Cleft palate, Syndactyly, Bladder exstrophy, Ectopia cordis, Omphalocele, Hand p... |
OMIM:217100 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Tachypnea, Hypert... |
OMIM:201475 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Predominantly lower limb lymphedema, Cleft palate, Cellulitis, Tetralogy of Fall... |
OMIM:153400 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
High palate, Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Schisis Association |
|
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Unilatera... |
ORPHA:63862 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
High palate, Inguinal hernia, Ventricular septal defect, Broad secondary alveolar ridge, Fifth fi... |
ORPHA:3369 |
Megalocornea |
|
Miosis, Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cata... |
OMIM:309300 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... |
ORPHA:99095 |
Down Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Sandal gap, Double outlet right ventric... |
OMIM:190685 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Intestinal malrotation, Short lower limbs, Omphalocele, Lower limb undergrowth |
OMIM:236640 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
Distal Monosomy 6P |
|
Corneal opacity, Clinodactyly of the 5th finger, Atrial septal defect, Abnormal anterior chamber ... |
ORPHA:96125 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:619189 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Narrow mouth, Inguinal hernia, Adducted thumb, Arachnodactyly, Long philtrum, Campto... |
OMIM:615539 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Trisomy 18 |
|
Anal atresia, Narrow mouth, Narrow palate, Atrial septal defect, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Atrial septal defect, Everted lower lip vermilion, Thi... |
ORPHA:1519 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:601450 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Decreased mean corpuscular volume, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Alveolar ridge overgrowth, Drumstick terminal phalanges, Cleft palate, Thin vermilion border, Bra... |
OMIM:612938 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
OMIM:256200 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Abnormality of the abdominal wall, Duodenal atresia, Clinodactyly of t... |
OMIM:247200 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Short philtrum, Syndactyly... |
OMIM:300963 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... |
ORPHA:99094 |
Opitz Gbbb Syndrome |
|
High palate, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Aortic root aneu... |
ORPHA:2745 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Brachydac... |
ORPHA:52056 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect,... |
OMIM:618974 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges ... |
OMIM:309350 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Intestinal malrotation, Syndacty... |
OMIM:601163 |
Fibrochondrogenesis |
|
Narrow mouth, Cleft palate, Short ribs, Camptodactyly of finger, Brachydactyly, Abnormal rib morp... |
ORPHA:2021 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Cleft palate, Short ribs, Postaxial polydactyly, Preaxial polydactyly, Bifid tongue... |
OMIM:616300 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Cleft palate, Inguinal hernia, Abnormality of the dentition, Short philtrum... |
ORPHA:261190 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
Hypophosphatasia |
|
Anemia, Respiratory insufficiency, Emphysema |
ORPHA:436 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios,... |
ORPHA:3405 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, 2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Cleft p... |
OMIM:600987 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... |
OMIM:612098 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Intracranial hemorrhage, Heart murmur, Ventricular septal defect, Patent du... |
ORPHA:163979 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Short hallux, Sandal gap, Cleft soft palate |
OMIM:216300 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension |
OMIM:613870 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Anteriorly plac... |
OMIM:618624 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Intestinal obstructi... |
OMIM:243150 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Recurrent bronchitis, Myocardial eosinophilic infiltration, Anemia, T... |
OMIM:131400 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... |
OMIM:617300 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Cleft soft palate, Brachydactyly, Broad thumb, Esophageal atresia, Smooth p... |
OMIM:614526 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Atrioventricular canal defect, Ventricular septal defect, Broad hallux, Clinodacty... |
ORPHA:508498 |
Lambert Syndrome |
|
Ventricular septal defect, Wide mouth, Inguinal hernia, Branchial anomaly |
ORPHA:1296 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Prominent fin... |
OMIM:612863 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... |
OMIM:615355 |
Aortic Aneurysm, Familial Thoracic 9 |
|
High palate, Thoracic aortic aneurysm, Arachnodactyly, Aortic tortuosity, Ascending aortic dissec... |
OMIM:616166 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Patent ductus arteriosus, Atrial septal defect |
OMIM:300712 |
Kennerknecht syndrome |
|
High palate, Malrotation of colon, Toe clinodactyly, Hypodontia, Omphalocele, Acetabular dysplasi... |
OMIM:600908 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Inguinal hernia, Hydrops fetalis, A... |
OMIM:212093 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Hypodontia, High, narrow palate, Glossoptosis, Camptod... |
ORPHA:3201 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Inguinal hernia, Congenital hip dislocation, De... |
ORPHA:2412 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Bifid uvula, Unilateral cleft lip, Omphalocele, Cleft soft palate |
ORPHA:2736 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Pulmonic stenosis, Brachydactyly, Ventricular septal defect, Cataract, Ect... |
ORPHA:3449 |
8Q12 Microduplication Syndrome |
|
Narrow mouth, Atrial septal defect, Everted lower lip vermilion, Long philtrum, Ventricular septa... |
ORPHA:228399 |
Mcdonough Syndrome |
|
Diastasis recti, Dental malocclusion, Atrial septal defect, Aortic valve stenosis, Pulmonic steno... |
OMIM:248950 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Aplastic anemia, Myocarditis, B lymphocytopenia, Increased pro... |
ORPHA:2442 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Hepatocellular n... |
OMIM:256000 |
Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Clinodactyly of the 5th fin... |
ORPHA:52 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular se... |
ORPHA:391641 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Fryns Syndrome |
|
Wide mouth, Cleft palate, Prominent fingertip pads, Ventricular septal defect, Tented upper lip v... |
OMIM:229850 |
Tyshchenko Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic ste... |
OMIM:615102 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Polyhydramnios, Finger syndactyly,... |
ORPHA:261272 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Macroglossia, Flexion contractur... |
ORPHA:254528 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Abnormal dental enamel morphology, Dental malocclusion, Narrow mouth, Macrodontia of permanent ma... |
OMIM:257850 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the radius, Abnormality of the humerus, Tetralogy of Fallot, Oral cleft, Hypoplasia... |
ORPHA:3186 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Cleft palate, Ventricular septal defect, Cervical ribs |
OMIM:609654 |
Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Slender finger, Cutaneous syndactyly of toes, Bifid uvula, Umbilical hernia,... |
ORPHA:2872 |
Trisomy 9P |
|
Clinodactyly of the 5th finger, Abnormal pupil morphology, Impacted tooth, Brachydactyly, Downtur... |
ORPHA:236 |
Donnai-Barrow Syndrome |
|
Short sternum, Congenital diaphragmatic hernia, Intestinal malrotation, Ventricular septal defect... |
OMIM:222448 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Syndactyly, Ventricular septal defect, Polyhydramnios, Duplication of phala... |
OMIM:263630 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Abnormality of ... |
ORPHA:3163 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Frank-Ter Haar Syndrome |
|
High palate, Wide mouth, Ventricular septal defect, Bowing of the long bones, Short long bone, Do... |
OMIM:249420 |
Trigonocephaly 1 |
|
Meckel diverticulum, Omphalocele |
OMIM:190440 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Rud... |
OMIM:304120 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Pulmonic ste... |
OMIM:617877 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Velocardiofacial Syndrome |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Int... |
OMIM:192430 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Frank-Ter Haar Syndrome |
|
Wide mouth, Gingival overgrowth, Premature loss of teeth, Clinodactyly of the 5th finger, Inguina... |
ORPHA:137834 |
Alg9-Cdg |
|
Wide mouth, Ventricular septal defect, Lipodystrophy, Omphalocele, Short long bone, Abnormal hear... |
ORPHA:79328 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Pulmonar... |
OMIM:608406 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemi... |
ORPHA:1572 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Narrow mouth, Postaxial hand polyd... |
ORPHA:83473 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Dental malocclusion, 3-4 toe syndactyly, Persistence of primary teeth, Ectopia pupillae, Oligodon... |
OMIM:618727 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... |
OMIM:301043 |
Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Abnormal heart morphology |
OMIM:184800 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... |
OMIM:615502 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Long philtrum, Tetralogy of Fallot, Sandal gap, Ventricular hypertrophy |
OMIM:300887 |
Char Syndrome |
|
No permanent dentition, Clinodactyly of the 5th finger, Persistence of primary teeth, Triangular ... |
ORPHA:46627 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Narrow palate, Atrial septal defect, Cleft palate, Pulmonic stenos... |
OMIM:618223 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Hypodontia, Pulmonic stenosis, Overlapping fingers, Pulmonary arte... |
OMIM:301056 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatic necrosis, H... |
ORPHA:71212 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
Carcinoid Syndrome |
|
Asthma, Bronchospasm, Elevated hepatic transaminase, Rhinorrhea, Hepatic necrosis |
ORPHA:100093 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Mitral valve prolapse, Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2233 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Brachydactyly, Ectopia lentis |
OMIM:613195 |
Aase-Smith Syndrome I |
|
Slender finger, Flexion contracture, Cleft palate, Ventricular septal defect, Open mouth |
OMIM:147800 |
Hec Syndrome |
|
Developmental cataract, Abnormal pupil morphology, Cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2119 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... |
ORPHA:363705 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO |
OMIM:618913 |
Mitral Valve Prolapse 1 |
|
High palate, Mitral valve prolapse, High, narrow palate |
OMIM:157700 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac a... |
ORPHA:49827 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Pulmonic stenosis, Malrotation of small bowel, Oral cleft, Ventr... |
ORPHA:139466 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Cerebrocostomandibular Syndrome |
|
High palate, Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Atrial septal defect... |
OMIM:117650 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
X-Linked Intellectual Disability, Nascimento Type |
|
Double outlet right ventricle, Wide mouth, Peripheral pulmonary artery stenosis, Mitral stenosis,... |
ORPHA:163956 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Situs i... |
ORPHA:244 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of the... |
OMIM:113000 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hepatic periportal necrosis, Elevated hepatic transaminas... |
ORPHA:26791 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gingival overgrowth, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Ab... |
ORPHA:1834 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... |
OMIM:108800 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Anal atresia, Prune belly, Cervical ribs, Omphalocele, Preaxial hand polydactyly |
OMIM:601389 |
3P25.3 Microdeletion Syndrome |
|
Cleft palate, Short philtrum, 2-3 finger syndactyly, Tapered finger, Pyloric stenosis, Ventricula... |
ORPHA:435638 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect |
OMIM:614868 |
Prune Belly Syndrome |
|
Anal atresia, Atrial septal defect, Intestinal atresia, Intestinal malrotation, Congenital hip di... |
ORPHA:2970 |
Meckel Syndrome, Type 2 |
|
Cleft palate, Intestinal malrotation, Polydactyly, Postaxial hand polydactyly, Omphalocele, Bowin... |
OMIM:603194 |
German Syndrome |
|
High palate, Abnormal cardiac septum morphology, Everted lower lip vermilion, Camptodactyly of fi... |
ORPHA:2077 |
Simpson-Golabi-Behmel Syndrome |
|
Wide mouth, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital hip di... |
ORPHA:373 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Filippi Syndrome |
|
Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Mic... |
OMIM:272440 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormality of the dentition, Abnormality of the philtrum, Tetralogy of ... |
ORPHA:276422 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Intestinal malrotation, Abnormal rib morphology, Abnormality of fib... |
ORPHA:3035 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Polyvalvular Heart Disease Syndrome |
|
High palate, Aortic valve stenosis, Pulmonic stenosis, Short philtrum, Mitral valve prolapse, Den... |
ORPHA:228410 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Intest... |
OMIM:156810 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Campto... |
OMIM:619343 |
1Q21.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Interrupted aortic arch, Patent ductus arteriosus |
ORPHA:250989 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Neonatal death, Pulmonary hypoplasia, Hepatic periportal necr... |
OMIM:231680 |
Nocardiosis |
|
Respiratory distress, Cutaneous abscess, Nonproductive cough, Peritonitis, Endocarditis, Brain ab... |
ORPHA:31204 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Anal atresia, Narrow mouth, Abnormal cardiac septum morphology, Cleft palate, Intestinal malrotat... |
ORPHA:2166 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... |
OMIM:300166 |
3C Syndrome |
|
Abnormal mitral valve morphology, Cleft palate, Atrioventricular canal defect, Ventricular septal... |
ORPHA:7 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Postaxial polydactyly, Preaxial polydactyly, ... |
OMIM:618142 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy |
OMIM:614676 |
Isolated Anencephaly |
|
Cleft lip, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Bifid uvula, Lobulate... |
OMIM:174300 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Wide mouth, Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Slender ... |
ORPHA:329224 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Dislocated radial head, Flat capital femoral epiphysis, Hypodon... |
OMIM:612350 |
Triopia |
|
Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma, Median cleft lip |
ORPHA:3374 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Intestinal malrotation, Polyhydramnios, Umbilical hernia, Omphalocele, Mic... |
ORPHA:2241 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate |
ORPHA:506353 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Brachydactyly, Sy... |
ORPHA:3238 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Anemia, Polycythemia, Thrombocyt... |
ORPHA:88673 |
Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Cleft palate, Ventricular septal defect, Cleft lip, Broad philtrum, Pericallosal li... |
ORPHA:398156 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, In... |
ORPHA:2847 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate, Aplasia/Hypoplasia... |
OMIM:192445 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Narrow mouth, Atrial septal defect, Cleft palate |
ORPHA:93946 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Atrial septal defect, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Tooth agenesis, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Edema, Clubbing of fingers |
OMIM:605676 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Hypertrophic cardiomyopathy, Flexion contracture, Short... |
OMIM:616897 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infe... |
OMIM:619632 |
Stickler Syndrome Type 1 |
|
Cleft palate, Long philtrum, Abnormality of vertebral epiphysis morphology, Mitral valve prolapse... |
ORPHA:90653 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Ventricular septal defect, Cleft palate |
OMIM:214300 |
Zechi-Ceide Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Cleft palate, Thin vermilion border, Short ... |
ORPHA:217017 |
Netherton Syndrome |
|
Asthma, Dehydration, Recurrent respiratory infections, Emphysema |
ORPHA:634 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Buratti-Harel Syndrome |
|
High palate, Clinodactyly of the 5th finger, Atrial septal defect, Velopharyngeal insufficiency, ... |
OMIM:619314 |
Galloway-Mowat Syndrome 7 |
|
High palate, Cleft palate, Arachnodactyly, Partial duplication of thumb phalanx, Ventricular sept... |
OMIM:618348 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short philtru... |
ORPHA:96334 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Bifid uvula, Tetralogy of Fallot, Coarctation of aorta, Ve... |
OMIM:617159 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Persistence of primary teeth, Atrial septal defect, Ventricular septal defect, Pat... |
OMIM:619769 |
Cardioacrofacial Dysplasia 2 |
|
Accessory oral frenulum, Clinodactyly of the 5th finger, Hypodontia, Atrioventricular canal defec... |
OMIM:619143 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Cleft palate, Abnormality of the dentition, Short philtrum, Carious teeth, Ven... |
ORPHA:567 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect, Abnormality of the dentition |
OMIM:616901 |
Loeys-Dietz Syndrome 4 |
|
High palate, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration of the esophag... |
OMIM:614816 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect, Keloids |
ORPHA:357225 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Atrial septal defect, Arachnodactyly, Genu valgum, Sandal gap, Umbilical hernia |
ORPHA:1035 |
Trisomy 13 |
|
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentiti... |
ORPHA:3378 |
Abruzzo-Erickson Syndrome |
|
Short toe, Atrial septal defect, Cleft palate, Brachydactyly, Ulnar deviation of finger, Radiouln... |
ORPHA:921 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Long phi... |
ORPHA:576283 |
Suleiman-El-Hattab Syndrome |
|
High palate, Wide mouth, Atrial septal defect, Inguinal hernia, Long philtrum, Polydactyly, Brach... |
OMIM:618950 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Cleft palate, Ventricular septal defect, Abnormal rib morphology, Abn... |
ORPHA:2345 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Emphysema |
OMIM:618307 |
Braddock-Carey Syndrome 1 |
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U-Shaped upper lip vermilion, Cleft palate, Everted lower lip vermilion, Small hand, Camptodactyl... |
OMIM:619980 |
Nephrotic Syndrome, Type 11 |
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High palate, Cleft palate, Arachnodactyly, Partial duplication of thumb phalanx, Ventricular sept... |
OMIM:616730 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Abnormal cardiac septum morphology, Stillbirth, Single ventricle |
OMIM:308050 |
Cardioacrofacial Dysplasia 1 |
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Accessory oral frenulum, Atrioventricular canal defect, Postaxial polydactyly, Short philtrum, Di... |
OMIM:619142 |
Esophageal Atresia |
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Duodenal atresia, Cleft palate, Barrett esophagus, Intestinal malrotation, Tracheoesophageal fist... |
ORPHA:1199 |
Kallmann Syndrome-Heart Disease Syndrome |
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Double outlet right ventricle, Cleft palate, Short lingual frenulum, Pulmonary artery hypoplasia,... |
ORPHA:2326 |
Distal Monosomy 19P13.3 |
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Tricuspid valve prolapse, Pulmonary valve atresia, Cleft palate, Arachnodactyly, Short philtrum, ... |
ORPHA:96129 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Distal Monosomy 15Q |
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Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... |
ORPHA:1596 |
Atrioventricular Septal Defect 5 |
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Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Isotretinoin-Like Syndrome |
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Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
46,Xx Sex Reversal 5 |
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Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... |
OMIM:618901 |
Microcephaly-Capillary Malformation Syndrome |
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Short distal phalanx of finger, Atrial septal defect, Cleft palate, Right ventricular hypertrophy... |
OMIM:614261 |
Sarcoidosis, Susceptibility To, 1 |
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Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hepatomegaly, Hypoxemia, Splenomegal... |
OMIM:181000 |
Desbuquois Syndrome |
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Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Small hand, Apl... |
ORPHA:1425 |
Fadd-Related Immunodeficiency |
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Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arteriosus, Patent foramen ovale... |
ORPHA:17 |
Marshall-Smith Syndrome |
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High palate, Short sternum, Slender finger, Prominent fingertip pads, Distal widening of metacarp... |
OMIM:602535 |
Coffin-Siris Syndrome 7 |
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Wide mouth, Bicuspid aortic valve, Clinodactyly of the 5th finger, Short philtrum, Brachydactyly,... |
OMIM:618027 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Vent... |
OMIM:115197 |
Pelger-Huet Anomaly |
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Gingival overgrowth, Median cleft palate, Abnormality of the dentition, Polydactyly, Upper limb u... |
OMIM:169400 |
Non-Syndromic Posterior Hypospadias |
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Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Omphalocele, Esophageal atresia |
ORPHA:95706 |
Acrocallosal Syndrome |