Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Thymic Aplasia With Fetal Death |
|
Stillbirth, Truncus arteriosus |
OMIM:274210 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... |
OMIM:231100 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Neonatal death, Truncus arteriosus |
OMIM:228940 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Lipedema |
|
Edema |
OMIM:614103 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... |
ORPHA:1209 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Highly arched eyebrow, Intrauterine growth retardation, Truncus arteriosus, Short stature |
OMIM:611867 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Short palpebral fissure, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect,... |
OMIM:601348 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Downslanted palpebral ... |
ORPHA:401935 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus |
OMIM:616589 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia |
ORPHA:306550 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Blepharophimosis, Abnormal aortic morphology, Truncus arteriosus |
ORPHA:2516 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Hepa... |
OMIM:615415 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Polyhydramnios, Oligohydramnios, ... |
ORPHA:3032 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Coarctation o... |
ORPHA:3426 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... |
ORPHA:79302 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... |
OMIM:614876 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... |
OMIM:617478 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... |
OMIM:619662 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... |
ORPHA:846 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Hepatic steatosis, Fulminant h... |
OMIM:231530 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect |
OMIM:615297 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... |
OMIM:601186 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Telecanthus, Narrow palpebral fissure, Blepharophimosis |
OMIM:300073 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:619126 |
Emanuel Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Upslanted palpebral fissure, Pulmonic stenosis, Vent... |
OMIM:609029 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Oligohydramn... |
OMIM:208540 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus |
OMIM:617516 |
Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus |
OMIM:147770 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
Cholesterol Pneumonia |
|
Cyanosis, Death in infancy |
OMIM:215030 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia, Edema |
ORPHA:79278 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Biliary atresia, Total absence of the pericard... |
OMIM:600001 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
ORPHA:567983 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular sep... |
ORPHA:2008 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Cyanosis, Tetralogy of Fa... |
ORPHA:3304 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Anemia, Polycythemia, Thrombocyt... |
ORPHA:88673 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Polymicrogyria, Ventricular septal defect, Pachygyria, Vascular ring |
OMIM:603387 |
14Q11.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Blepharop... |
ORPHA:261120 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... |
OMIM:224100 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... |
ORPHA:30391 |
Emanuel Syndrome |
|
Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Upslanted palpebral fissure, Pulmonic... |
ORPHA:96170 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia |
OMIM:300752 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Aortic Arch Interruption |
|
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... |
ORPHA:2299 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Umbilical hernia |
ORPHA:1918 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Death in childhood, Atrial septal defect |
OMIM:253300 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse eyebrow, Sparse eyelashes, Ventricular septal defect, Epicanthus, Downslanted palpebral fi... |
OMIM:616901 |
Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... |
ORPHA:980 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Downslanted palpebral fissures |
OMIM:619717 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Nonimmune hydrops... |
OMIM:266200 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Li-Campeau Syndrome |
|
Atrial septal defect, Thick eyebrow, Ventricular septal defect, Downslanted palpebral fissures, T... |
OMIM:619189 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ventricular septal defect, Decreased liver function, Patent ductus arteriosus |
OMIM:617021 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Periportal fibrosis |
OMIM:201475 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Cerebral edema,... |
OMIM:603471 |
Chilblain Lupus 2 |
|
Vasculitis, Edema |
OMIM:614415 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Pulmonary edema, Edema |
OMIM:178400 |
Cyanosis And Hepatic Disease |
|
Cyanosis |
OMIM:219400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Cholestasis, Patent ductus arteriosus, Portal hypertension, Bile duct prolife... |
OMIM:267010 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Edema, Hepatic failure |
OMIM:177000 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Elevated circulati... |
ORPHA:480520 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
Lambert Syndrome |
|
Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect, Branchial anomaly, Jaundice |
ORPHA:1296 |
Gillespie Syndrome |
|
Aniridia, Truncus arteriosus |
OMIM:206700 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Decreased mean corpuscular volume, Microvesicular hepatic steatosis, Hep... |
OMIM:618278 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
Immunodeficiency 7 |
|
Lymphadenopathy |
OMIM:615387 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Immunodeficiency 104 |
|
Lymphadenopathy, Splenomegaly |
OMIM:608971 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Thick eyebrow, Atrial septal defect, Downslanted palpebral fissures, Telecanthus, B... |
ORPHA:896 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic failure, Elevated hepatic transami... |
ORPHA:71212 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... |
ORPHA:95430 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Long palpebral fissure, Ventricular septal defect, Telecanthus, Epicanthus,... |
ORPHA:228399 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... |
ORPHA:562639 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... |
ORPHA:1461 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Upslanted palpebral fissure, Ventricular septal defect, Telecanthus, Epican... |
OMIM:618974 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... |
ORPHA:2326 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Epicanthus |
OMIM:618506 |
Velocardiofacial Syndrome |
|
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Umb... |
OMIM:192430 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... |
OMIM:108800 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect |
OMIM:617044 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect |
ORPHA:1388 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly |
OMIM:618852 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... |
OMIM:613470 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Increased circulating lactate dehydrogenase concentration... |
ORPHA:26791 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poikilocytosis, ... |
ORPHA:288 |
Mast Cell Sarcoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Decreased liver function, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic f... |
ORPHA:2442 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Anemia, Thrombocytopenia |
ORPHA:101028 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, Ptosis |
OMIM:613458 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, E... |
OMIM:612946 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase concentration, ... |
ORPHA:521219 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Epicanthus, Transposition o... |
ORPHA:1913 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Branchial fistula, Highly arched eyebrow, Ventricular septal... |
ORPHA:261330 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palpebral fissure, Atrioventricular canal defect, Retinal coloboma, ... |
ORPHA:508498 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Apnea, Central Sleep |
|
Cyanosis |
OMIM:207720 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly |
ORPHA:444463 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Polymicrogyria |
ORPHA:83473 |
Amyloidosis, Familial Visceral |
|
Edema, Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology |
ORPHA:3405 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Hydrocephalus, Ventricular septal defect, Downslanted palpebral fissures, Umbi... |
ORPHA:567 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
Meckel Syndrome, Type 6 |
|
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cyanosis, Dextrocardia, Epicanthus, Hypoxemia, Abnormal pulmonary ... |
ORPHA:2257 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertens... |
OMIM:232500 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Palmoplantar cutis laxa, V... |
OMIM:615355 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Anophthalmia, Microphthalmia |
ORPHA:2470 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... |
ORPHA:731 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Cyanosis |
OMIM:263000 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Arrhinencephaly, Polymicrogyria, Biliar... |
OMIM:156810 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aor... |
ORPHA:1166 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Cardiome... |
OMIM:306955 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... |
OMIM:232800 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Coloboma, Ventricular septal defect, Epicanthus, Patent ductus arteriosus, ... |
OMIM:618652 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... |
ORPHA:2306 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:97290 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... |
ORPHA:1686 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia |
ORPHA:3378 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Death in infancy, Ptosis |
OMIM:147800 |
Acute Liver Failure |
|
Hepatocellular necrosis, Elevated hepatic transaminase, Hepatitis, Hepatic periportal necrosis, H... |
ORPHA:90062 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... |
OMIM:601005 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Short palpebral fissure, Pulmonic stenosis, Coarctation of aorta, Ventricu... |
ORPHA:284169 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:319487 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Epicanthus, Downslanted palpebral fissures, Cutis marmorata |
OMIM:602501 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect, Elevated red cell adenosine deaminase level |
OMIM:615550 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect |
OMIM:616898 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... |
ORPHA:439 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... |
ORPHA:231222 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Misalignment of the pulmonary veins, Cyanosis, Neonatal death, Death in infancy |
OMIM:265120 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Macrovesicular hepatic steatosis, Elevated gamma-glutamyltransferase le... |
OMIM:618329 |
Hardikar Syndrome |
|
Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... |
OMIM:301068 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... |
ORPHA:555874 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:3469 |
Phaver Syndrome |
|
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... |
ORPHA:2876 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas |
ORPHA:438274 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Intrahepat... |
OMIM:605479 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormal... |
ORPHA:290 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... |
OMIM:612561 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart |
OMIM:618901 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Polyhydramnios, Bile duct... |
OMIM:261515 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Downslanted p... |
OMIM:616559 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Right ventricular hypertrophy, Ven... |
OMIM:613404 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Atrioventricular canal def... |
OMIM:619534 |
Mcdonough Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Upslanted palpebral fissure, Pulmonic stenosis, Vent... |
OMIM:248950 |
Immunodeficiency 14A, Autosomal Dominant |
|
Lymphadenopathy, Splenomegaly |
OMIM:615513 |
Alg3-Cdg |
|
Decreased liver function, Abnormal enzyme/coenzyme activity, Coarctation of the descending aortic... |
ORPHA:79321 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Cirrhosis, ... |
OMIM:606003 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Cyanosis, Chylopericardium |
ORPHA:2414 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
Mu-Heavy Chain Disease |
|
Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:616277 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Atrial septal defect, Intrahepatic biliary atres... |
OMIM:208085 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Short palpebral fissure, Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Patent ... |
OMIM:613457 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology |
ORPHA:1923 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... |
ORPHA:1727 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Congenital Toxoplasmosis |
|
Lymphadenopathy, Microphthalmia |
ORPHA:858 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... |
ORPHA:392 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Stillbirth, Atrial septal defect |
OMIM:263630 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Abnormality of neuronal migration, Hypoplastic left heart |
ORPHA:2772 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... |
OMIM:613834 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes |
ORPHA:543 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Epicanthus |
OMIM:314320 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Coloboma, Ventricular septal defect, Downslanted pal... |
ORPHA:329224 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
Hydrolethalus |
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Anophthalmia, Microphthalmia |
ORPHA:2189 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Ventricular septal defect, Highly arched eyebrow |
ORPHA:94066 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Decreased liver function, Cirrhosis, Oligohydramnios, Cholestasis, Elevated hepatic transaminase,... |
OMIM:613658 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Postsynaptic Congenital Myasthenic Syndromes |
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Cyanosis, Ptosis |
ORPHA:98913 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Recombinant Chromosome 8 Syndrome |
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Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abno... |
ORPHA:79303 |
Alpha-Heavy Chain Disease |
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Lymphadenopathy, Splenomegaly |
ORPHA:100025 |
Immunodeficiency 64 |
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Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... |
OMIM:618534 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Lissencephaly, Patent d... |
OMIM:618142 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Follicular hyperplasia, Lymphadenopathy |
OMIM:619846 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
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Ventricular septal defect, Epicanthus |
ORPHA:3369 |
Immunodeficiency, Common Variable, 2 |
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Follicular hyperplasia, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:300853 |
Weiss-Kruszka Syndrome |
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Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Kapur-Toriello Syndrome |
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Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Pachygyria |
ORPHA:2328 |
Laubry-Pezzi Syndrome |
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Bicuspid aortic valve, Abnormal aortic valve cusp morphology, Left ventricular hypertrophy, Abnor... |
ORPHA:99094 |
Microgastria-Limb Reduction Defect Syndrome |
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Hepatomegaly, Atrial septal defect, Arrhinencephaly, Abnormal cortical gyration, Truncus arteriosus |
ORPHA:2538 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619525 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation |
OMIM:611134 |
Solitary Median Maxillary Central Incisor |
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Anophthalmia, Microphthalmia |
OMIM:147250 |
Immunodeficiency 52 |
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Lymphadenopathy, Splenomegaly |
OMIM:617514 |
Immunodeficiency 27B |
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Generalized lymphadenopathy |
OMIM:615978 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Ventricular septal defect, Stroke, Atrial septal defect |
ORPHA:49827 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hepatosplenomegaly, Lymphadenopathy, Splenomegaly |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphadenopathy, Generalize... |
OMIM:615559 |
Lymphedema-Distichiasis Syndrome |
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Conjunctivitis, Tetralogy of Fallot, Ventricular septal defect, Distichiasis, Patent ductus arter... |
OMIM:153400 |
Microphthalmia With Brain And Digit Anomalies |
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Anophthalmia, Microphthalmia |
ORPHA:139471 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
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Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
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Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Atrial septal defect |
OMIM:608406 |
Noonan Syndrome 12 |
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Ventricular septal defect, Tetralogy of Fallot |
OMIM:618624 |
Diabetic Embryopathy |
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Tetralogy of Fallot, Ventricular septal defect, Spinal dysraphism, Abnormality of the pulmonary a... |
ORPHA:1926 |
Pfapa Syndrome |
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Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy |
OMIM:249270 |
Congenital Disorder Of Glycosylation, Type Iil |
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Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Atrial septal defect, Cirr... |
OMIM:614576 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
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Atrial septal defect, Secundum atrial septal defect, Sparse eyebrow, Upslanted palpebral fissure,... |
OMIM:600987 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Splenomegaly, Hydrops fetalis, Cholestasis, Elevated hepatic transaminase, Polyhydr... |
OMIM:613610 |
Congenital Fibrinogen Deficiency |
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Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... |
ORPHA:335 |
Transketolase Deficiency |
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Hepatomegaly, Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, P... |
ORPHA:488618 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:613870 |
Leigh Syndrome With Leukodystrophy |
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Ventricular septal defect, Hypertrophic cardiomyopathy, Ptosis |
ORPHA:255241 |
Joubert Syndrome 18 |
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Ventricular septal defect |
OMIM:614815 |
Cardiac Valvular Dysplasia 2 |
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Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... |
OMIM:620067 |
Atrioventricular Septal Defect 3 |
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Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de... |
OMIM:600309 |
Warsaw Breakage Syndrome |
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Cutis marmorata, Tetralogy of Fallot, Optic disc coloboma, Ventricular septal defect, Epicanthus |
OMIM:613398 |
Ventriculomegaly With Cystic Kidney Disease |
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Ventricular septal defect, Gray matter heterotopia, Vascular dilatation |
OMIM:219730 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:77298 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Blepharitis, Lacrimal duct atresia, Ankyloblepharon, Sparse eyelashes, Ventricular septal defect,... |
OMIM:106260 |
Suleiman-El-Hattab Syndrome |
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Thick eyebrow, Atrial septal defect, Ventricular septal defect, Downslanted palpebral fissures, E... |
OMIM:618950 |
Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2717 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Bicuspid aortic valve, Polymicrogyria, Ventricular septal defect, Patent ductus arteriosus, Paten... |
ORPHA:500159 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly, Ptosis |
ORPHA:2211 |
Phace Association |
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Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... |
OMIM:606519 |
Porphyria Cutanea Tarda |
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Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzyme activity, Chronic hepatitis, Hepat... |
ORPHA:101330 |
Congenital Alveolar Capillary Dysplasia |
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Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
Asbestos Intoxication |
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Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale, Cyanosis, Hypoxemia |
ORPHA:2302 |
Hereditary Methemoglobinemia |
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Cyanosis |
ORPHA:621 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
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Cerebral hemorrhage, Spinal arteriovenous malformation, Dilatation of celiac artery, Cyanosis, Ar... |
OMIM:610655 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Abnormally large globe, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Meacham Syndrome |
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Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
Familial Bicuspid Aortic Valve |
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Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
Microphthalmia, Syndromic 5 |
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Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
Gallbladder Disease 4 |
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Cholelithiasis |
OMIM:611465 |
Monosomy 18Q |
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Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... |
ORPHA:1600 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Left ventricular hypertrophy, Cyanosis, Hypertrophic cardiomyopathy, Right ventricular hypertrophy |
ORPHA:444013 |
Oculoauriculofrontonasal Syndrome |
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Ventricular septal defect, Upper eyelid coloboma, Limbal dermoid |
ORPHA:398156 |
Immunodeficiency 27A |
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Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly |
OMIM:209950 |
Immunodeficiency 10 |
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Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Absence of lymph node germinal center |
OMIM:608184 |
Hereditary Spherocytosis |
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Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... |
OMIM:208500 |
Fish-Eye Disease |
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Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Encephalopathy, Ethylmalonic |
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Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Pontocerebellar Hypoplasia, Type 17 |
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Secundum atrial septal defect, Upslanted palpebral fissure, Ventricular septal defect, Epicanthus... |
OMIM:619909 |
Weill-Marchesani Syndrome |
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Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis |
ORPHA:3449 |
Cockayne Syndrome Type 2 |
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Anophthalmia |
ORPHA:90322 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Mitochondrial Phosphate Carrier Deficiency |
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Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
X-Linked Lissencephaly With Abnormal Genitalia |
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Ventricular septal defect, Pachygyria, Patent ductus arteriosus |
ORPHA:452 |
Catel-Manzke Syndrome |
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Coarctation of aorta, Ventricular septal defect, Dextrocardia, Umbilical hernia, Overriding aorta |
OMIM:616145 |
Lymphangiectasia, Pulmonary, Congenital |
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Facial edema, Chylothorax, Mild postnatal growth retardation, Chylous ascites, Palpebral edema, N... |
OMIM:265300 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Lymphadenopathy |
OMIM:212050 |
Nephroblastoma |
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Lymphadenopathy, Aniridia |
ORPHA:654 |
Tatton-Brown-Rahman Syndrome |
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Thick eyebrow, Atrial septal defect, Ventricular septal defect, Epicanthus, Horizontal eyebrow, N... |
OMIM:615879 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Bicuspid aortic valve, Long palpebral fissure, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:617751 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic hy... |
OMIM:619991 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... |
ORPHA:363705 |
Beaulieu-Boycott-Innes Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Short palpebral fissure, Upslanted palpebral... |
OMIM:613680 |
Inverted Duplicated Chromosome 15 Syndrome |
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Tetralogy of Fallot, Ventricular septal defect, Epicanthus, Downslanted palpebral fissures, Synop... |
ORPHA:3306 |
Digeorge Syndrome |
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Cholelithiasis, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Umbilic... |
OMIM:188400 |
Noonan Syndrome 10 |
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Mitral stenosis, Atrial septal defect, Sparse eyebrow, Pulmonic stenosis, Left ventricular hypert... |
OMIM:616564 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly |
OMIM:612840 |
Trisomy 1Q |
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Anophthalmia |
ORPHA:261344 |
Walker-Warburg Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:899 |
Ritscher-Schinzel Syndrome 2 |
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Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Atrial septal d... |
OMIM:300963 |
Glycogen Storage Disease Xii |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... |
OMIM:611881 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Heterotaxy, Visceral, 5, Autosomal |
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Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Burn-Mckeown Syndrome |
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Atrial septal defect, Short palpebral fissure, Ventricular septal defect, Lower eyelid coloboma, ... |
OMIM:608572 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Peritoneal abscess, Polyhydramnios, Hepatitis, Autoimmune hemolytic ane... |
ORPHA:436252 |
Abcd Syndrome |
|
White eyebrow, White eyelashes, Neonatal death |
OMIM:600501 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
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Atrial septal defect, Atrioventricular canal defect, Upslanted palpebral fissure, Tetralogy of Fa... |
OMIM:600123 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Short palpebral fissure, Upslanted palpebral fissure, Coarctation of aorta,... |
OMIM:617159 |
Hsd10 Disease, Infantile Type |
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Cyanosis, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Noonan Syndrome 2 |
|
Mitral stenosis, Atrial septal defect, Sparse eyebrow, Atrioventricular canal defect, Pulmonic st... |
OMIM:605275 |
3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... |
ORPHA:7 |
Noonan Syndrome 4 |
|
Atrial septal defect, Sparse eyebrow, Bruising susceptibility, Pulmonic stenosis, Ventricular sep... |
OMIM:610733 |
Rare Circulatory System Disease |
|
Arterial calcification, Cyanosis, Abnormal systemic arterial morphology, Arterial tortuosity, Vas... |
ORPHA:98028 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Hepatopulmonary fusion, Tetralogy... |
OMIM:618280 |
Roifman Syndrome |
|
Long palpebral fissure, Prominent eyelashes, Ventricular septal defect, Downslanted palpebral fis... |
OMIM:616651 |