Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Lipedema |
|
Edema |
OMIM:614103 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... |
ORPHA:1209 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Intrauterine growth retardation, Truncus arteriosus, Short stature, Highly arched eyebrow |
OMIM:611867 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Synophrys, Abnormal heart morphology, Atrial septal defect, Truncus ar... |
ORPHA:401935 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... |
OMIM:613759 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Blepharophimosis, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia... |
ORPHA:3032 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
Double Outlet Right Ventricle |
|
Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Narrow ... |
ORPHA:3426 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... |
OMIM:617478 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia |
OMIM:617577 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema, Intrauterine growth retardation |
OMIM:189800 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... |
OMIM:601186 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial... |
OMIM:608978 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale... |
OMIM:600001 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Verheij Syndrome |
|
Branchial cyst, Short stature, Ventricular septal defect, Growth delay, Intrauterine growth retar... |
OMIM:615583 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis... |
OMIM:300845 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Autosomal Erythropoietic Protoporphyria |
|
Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis |
ORPHA:79278 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Overriding aorta, Cyanosis, Patent ductus arteriosus, Persistent left superior... |
ORPHA:3304 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Acrocardiofacial Syndrome |
|
Death in infancy, Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Long eyelashe... |
ORPHA:2008 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
14Q11.2 Microdeletion Syndrome |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Blepharop... |
ORPHA:261120 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia |
OMIM:300752 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Emanuel Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Aortic valve st... |
OMIM:609029 |
Emanuel Syndrome |
|
Hooded eyelid, Truncus arteriosus, Ventricular septal defect, Hydrocephalus, Patent ductus arteri... |
ORPHA:96170 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Death in childhood |
OMIM:253300 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... |
OMIM:132900 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Vascular ring, Atrial septal defect, Pachygyria, Polymicrogyria |
OMIM:603387 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Li-Campeau Syndrome |
|
Telecanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Atrial se... |
OMIM:619189 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis |
ORPHA:79094 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect, Epicanthus, Downslanted palpebral fissures |
OMIM:619717 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis |
OMIM:201475 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Mac... |
ORPHA:3202 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Gillespie Syndrome |
|
Aniridia, Truncus arteriosus |
OMIM:206700 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hemolytic anemia, Edema |
OMIM:177000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia |
ORPHA:1296 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis, ... |
OMIM:267010 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal repetitive mannerisms |
ORPHA:411986 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Edema, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, Neutropenia, Anemia |
OMIM:603552 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Hypertro... |
OMIM:616276 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ... |
OMIM:618278 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Telecanthus, Blepharophimosis, Acrocyanosis, Downslanted palpebral fissures... |
ORPHA:896 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Decreased 3-hydroxyacyl-C... |
ORPHA:71212 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... |
OMIM:192430 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, ... |
ORPHA:228399 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... |
ORPHA:2326 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral... |
OMIM:618974 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased liver function, Increa... |
ORPHA:26791 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... |
OMIM:615996 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Thrombocytosis, Microcytic anemia, Abnorma... |
ORPHA:232 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow |
ORPHA:1388 |
Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
Transaldolase Deficiency |
|
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Cirrhosis, Anemia |
ORPHA:101028 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Ectropion |
OMIM:242500 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Atrial septal defect, Short stature, Ventricular septal defect, Highly arched ... |
ORPHA:261330 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ... |
ORPHA:521219 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Bicuspid aortic valve, Ventricular septal defect, Almond-shaped palpebral fiss... |
ORPHA:508498 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Epicanthus, Ventricular septal defect, Atrial septal defect, Tetralogy o... |
OMIM:612946 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Polymicrogyria |
ORPHA:83473 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Ventricular septal defect, Synophrys, Transposition of the great arteries, Atrial sep... |
ORPHA:1913 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Long palpebral fissure, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618330 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis, Edema |
OMIM:105200 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Primary Pulmonary Hypoplasia |
|
Epicanthus, Cyanosis, Dextrocardia, Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary ... |
ORPHA:2257 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Abnormal aortic arch morphology, Atrial septal defect, Short stature,... |
ORPHA:567 |
Congenital Heart Block |
|
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... |
ORPHA:60041 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia, Abnormal spleen morphology |
ORPHA:2470 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Epicanthus, Ventricular septal defect, Sparse eyelashes, Sparse eyebrow, Death ... |
OMIM:616901 |
Glycogen Storage Disease Iv |
|
Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Ascites, Cirrhos... |
OMIM:232500 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Cor pulmonale |
OMIM:263000 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal defect, A... |
OMIM:306955 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Ventricular septal defect |
OMIM:613730 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Noonan Syndrome 8 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Palmoplantar ... |
OMIM:615355 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor... |
ORPHA:1166 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Pate... |
ORPHA:439 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coloboma, Atrial s... |
OMIM:618652 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Synophrys, Patent duct... |
ORPHA:284169 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... |
ORPHA:3092 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Elevate... |
OMIM:618329 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Ce... |
ORPHA:90062 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow |
OMIM:616898 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis, Misalignment of the pulmonary veins |
OMIM:265120 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... |
OMIM:605479 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Aase-Smith Syndrome I |
|
Death in infancy, Ventricular septal defect, Ptosis |
OMIM:147800 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Epicanthus, Bicuspid aortic valve, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Mu... |
OMIM:612474 |
Phaver Syndrome |
|
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Epicanthus, Downslanted palpebral fissures, Cutis marmorata |
OMIM:602501 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... |
ORPHA:555874 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonic stenosis, Chylopericardium |
ORPHA:2414 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Cholest... |
OMIM:261515 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Sparse eyebrow, Coarctation of aorta, Pulmonic stenosis, Downslanted p... |
OMIM:616559 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Epicanthus, Infancy onset short-trunk short stature, Short stature, Ventricular s... |
ORPHA:508488 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Jaundice, Patent ductus arteriosus, Atrial septal defect... |
ORPHA:290 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Alg3-Cdg |
|
Abnormal circulating enzyme concentration or activity, Coarctation of the descending aortic arch,... |
ORPHA:79321 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Ventricular septal defect |
OMIM:618506 |
Congenital Toxoplasmosis |
|
Microphthalmia, Lymphadenopathy |
ORPHA:858 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jau... |
OMIM:613404 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Pleural Mesothelioma |
|
Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Anasarca, Bile duc... |
OMIM:613658 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Micronodular cirrhosis, Patent ductus arteriosus, Hepato... |
OMIM:606003 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Coloboma, Hypoplastic left heart, Pulmo... |
OMIM:220210 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa... |
OMIM:619534 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Ptosis |
ORPHA:98913 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Jau... |
OMIM:232800 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l... |
OMIM:208085 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Highly arched eyebrow |
ORPHA:94066 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy |
ORPHA:391 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Synoph... |
ORPHA:329224 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Sparse eyebrow, Sec... |
OMIM:600987 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Lissencephaly, Atri... |
OMIM:618142 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Epicanthus, Ventricular septal defect |
OMIM:314320 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Dextrotransp... |
OMIM:618619 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Abnormality of neuronal migration |
ORPHA:2772 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
Microgastria-Limb Reduction Defect Syndrome |
|
Atrial septal defect, Hepatomegaly, Truncus arteriosus, Abnormal cortical gyration |
ORPHA:2538 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... |
ORPHA:335 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Epicanthus, Ventricular septal defect |
ORPHA:3369 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Long palpe... |
OMIM:615668 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Suleiman-El-Hattab Syndrome |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Patent foramen ovale, Synophrys, At... |
OMIM:618950 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Asbestos Intoxication |
|
Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion |
ORPHA:2302 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Pontocerebellar Hypoplasia, Type 17 |
|
Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, U... |
OMIM:619909 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Diabetic Embryopathy |
|
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormal aortic morphology, Tr... |
ORPHA:1926 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Abnormal cortical gyratio... |
OMIM:614576 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... |
OMIM:620067 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect |
OMIM:249270 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Patent du... |
OMIM:613610 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Cerebral arteriovenous malforma... |
OMIM:610655 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Ventricular septal defect, Absent eyelashes, Patent ductus arteriosus, Lacrimal... |
OMIM:106260 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... |
ORPHA:1600 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:613870 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:500159 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly |
ORPHA:391428 |
Nephroblastoma |
|
Aniridia, Lymphadenopathy |
ORPHA:654 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, P... |
ORPHA:210122 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Highly arched eyebrow, Parachute mitral valve, Patent ductus arteriosu... |
OMIM:618316 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Pachygyria, Ventricular septal defect |
ORPHA:452 |
Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
Digeorge Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Right aortic arch with mirror image branchin... |
OMIM:188400 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Narrow palpebral fissure, Horizontal... |
OMIM:615879 |
Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Ventricular septal defect, Upper eyelid coloboma |
ORPHA:398156 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Warsaw Breakage Syndrome |
|
Epicanthus, Ventricular septal defect, Cutis marmorata, Optic disc coloboma, Tetralogy of Fallot |
OMIM:613398 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... |
OMIM:611881 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h... |
OMIM:619991 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect, Decreased liver function |
OMIM:617021 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Ventricular septal defect, Synophrys, Tetralogy of Fallot, Downslanted palpebral fiss... |
ORPHA:3306 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Synophrys, Patent ductus... |
OMIM:617751 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Craniofaciofrontodigital Syndrome |
|
Epicanthus, Prominent superficial veins, Bicuspid aortic valve, Ventricular septal defect, Abnorm... |
ORPHA:363705 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... |
OMIM:601005 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Long eyebrows |
OMIM:614407 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Polyhydramnios, Hepatitis, Hypoplasia of the thymus, Abnormal ductus... |
ORPHA:436252 |
Beaulieu-Boycott-Innes Syndrome |
|
Upslanted palpebral fissure, Patent ductus arteriosus, Ventricular septal defect, Short palpebral... |
OMIM:613680 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Synophrys, Atrial septal defect, Downslanted palpebral f... |
OMIM:618067 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Lower eyelid coloboma, Blepharophimosis, Short p... |
OMIM:608572 |
Noonan Syndrome 10 |
|
Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent ductus arteriosus, Mitral valve pro... |
OMIM:616564 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... |
ORPHA:2255 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Upslanted ... |
OMIM:617159 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
Noonan Syndrome 4 |
|
Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Pulmonic stenosis, Atria... |
OMIM:610733 |
Femoral-Facial Syndrome |
|
Upslanted palpebral fissure, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Persistent left super... |
OMIM:618494 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Downslanted palpebral fissures |
OMIM:620184 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telecanthus, Epicanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosu... |
OMIM:612582 |
Noonan Syndrome 2 |
|
Epicanthus, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Sparse e... |
OMIM:605275 |
3C Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:7 |
Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Lambotte Syndrome |
|
Telecanthus, Ventricular septal defect |
OMIM:245552 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Intrahepatic biliary atresia, Ventricular septal defect |
OMIM:614815 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Prominent eyelashes, Long palpebral fiss... |
OMIM:616651 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
King-Denborough Syndrome |
|
Bilateral ptosis, Ventricular septal defect, Downslanted palpebral fissures, Ptosis |
OMIM:619542 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Pachygyria, Ventricular septal defect |
ORPHA:513456 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Splenic infarction, Leukocytosis, Choleli... |
OMIM:603903 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Thyroid Lymphoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal def... |
OMIM:619343 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Ventricular septal defect, Abnormal heart morphology, Chorioretinal coloboma, Blephar... |
ORPHA:494344 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Epicanthus, Ventricular septal defect, Synophrys, Patent ductus arteriosus, Upslanted palpebral f... |
OMIM:617061 |
Yuan-Harel-Lupski Syndrome |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Upslanted palpebral fissure, Aortic... |
OMIM:616652 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ventricular septal ... |
OMIM:617201 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Tetrasomy 5P |
|
Upslanted palpebral fissure, Epicanthus, Cyanosis |
ORPHA:3309 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Ptosis |
OMIM:609654 |
Radio-Tartaglia Syndrome |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Long eyebrows, Synophrys, Upslanted... |
OMIM:619312 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
Leishmaniasis |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:507 |
Char Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis |
ORPHA:46627 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Ventricular septal defect, Abnormal heart morphology, Upslanted palpebral fissure, Ho... |
ORPHA:369891 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures |
ORPHA:2256 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... |
ORPHA:100086 |
Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Desbuquois Syndrome |
|
Abnormal eyelash morphology, Ventricular septal defect |
ORPHA:1425 |
Coffin-Siris Syndrome 7 |
|
Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Downslanted p... |
OMIM:618027 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Telangiectasia, Hypoxemia, Pulmonary arteriovenous fistulas,... |
ORPHA:2038 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Lissencephaly, Umbilical hernia, Hypertrophi... |
OMIM:612938 |
Charge Syndrome |
|
Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arterio... |
OMIM:214800 |
Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia, Dysphagia |
OMIM:615636 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Long eyelashes, Long palp... |
OMIM:617452 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Hooded eyelid, Bicuspid aortic valve, Highly arched eyebrow, Ventricu... |
OMIM:610759 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Epicanthus, Telecanthus, Thick eyebrow, Ventricular septal defect, Highly a... |
OMIM:617360 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... |
ORPHA:1908 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures, Iris coloboma |
ORPHA:2143 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... |
ORPHA:99104 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Perisylvian polymicrogyria, Ventricular septal defect |
OMIM:615673 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Cyanosis, Hypoxemia |
ORPHA:79126 |
Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Pulmonic s... |
ORPHA:435638 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, ... |
OMIM:145420 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial s... |
ORPHA:457193 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Downslanted palpebral f... |
ORPHA:52055 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
Tyshchenko Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Ptosis |
OMIM:615102 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of... |
ORPHA:261311 |
Cat Eye Syndrome |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total an... |
OMIM:115470 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Ventricular septal defect, Highly arched eyebrow, Synophrys,... |
OMIM:270450 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
Braddock-Carey Syndrome 1 |
|
Ventricular septal defect, Telecanthus, Aortic valve prolapse, Downslanted palpebral fissures |
OMIM:619980 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Atrial septal d... |
OMIM:618870 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Upslanted palpebral fissure, Downslanted palp... |
ORPHA:447980 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Abnormal heart morphology, Up... |
ORPHA:404440 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular ... |
OMIM:614261 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Upslanted palpebral fissure, Atrial septal defect, Pulmonary artery stenosis, Ventricular septal ... |
ORPHA:75389 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp... |
ORPHA:1329 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
Tarp Syndrome |
|
Cyanosis, Persistent left superior vena cava, Atrial septal defect, Tetralogy of Fallot, Short pa... |
ORPHA:2886 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Prune Belly Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2970 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Interrupted aortic arch |
OMIM:616920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect |
OMIM:301039 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Long eyelashes, Long palp... |
ORPHA:505237 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Holoprosencephaly |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2162 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
Distal Triplication 15Q |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology |
ORPHA:314588 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Per... |
OMIM:618775 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Synophrys, Long eyelashes, Patent foramen ovale, Thick eyebrow |
OMIM:614961 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Ventricular septal defect, Synophrys, Patent ductus arteriosus, Na... |
OMIM:620113 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose veins,... |
OMIM:153400 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Abnormal heart morphology |
ORPHA:1867 |
Orotic Aciduria |
|
Atrial septal defect, Reduced orotidine 5-prime phosphate decarboxylase level, Ventricular septal... |
OMIM:258900 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Peripheral pulmonary artery stenosis, Ventricular septal defect, Eyelid col... |
OMIM:613001 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Abnormality of t... |
ORPHA:371428 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Abnormal lymph node morphology |
ORPHA:54251 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Ventricular septal defect, Upslanted palpebral fissure, Atrial septal de... |
OMIM:610536 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Mitral valve prolapse, Coarcta... |
OMIM:180849 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ptosis |
OMIM:220500 |
Immunodeficiency 7 |
|
Splenomegaly, Lymphadenopathy |
OMIM:615387 |
Noonan Syndrome 3 |
|
Epicanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Mitral val... |
OMIM:609942 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Cutis marmorata, Abnormal pericardium morphology, Transient ischemic attack, Myocarditis, Vasculi... |
ORPHA:183 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Atrial septal defect, Telecanthus, Ventricular septal defect, Highly... |
OMIM:257920 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Concentric hypertrophic cardiomyopathy, Upslanted palpebral fissure, ... |
OMIM:252010 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, An... |
ORPHA:1335 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ble... |
OMIM:608149 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis... |
OMIM:249000 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Joubert Syndrome 14 |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Intracranial hemorrhage, Coloboma, ... |
OMIM:614424 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Lymphadenopathy |
ORPHA:142 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
Fryns Syndrome |
|
Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnorma... |
ORPHA:2059 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Epicanthus, Ventricular septal defect |
ORPHA:2519 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Ptosis |
OMIM:618798 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Almond-shaped palpebral fissure, Epiblepharon, Downslanted palpebral f... |
OMIM:619103 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... |
OMIM:600460 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pachygyria, Polymicrog... |
OMIM:244300 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Rhabdoid Tumor |
|
Lymphadenopathy |
ORPHA:69077 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Ptosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Ptosis |
ORPHA:98914 |
Codas Syndrome |
|
Epicanthus, Ventricular septal defect, Ptosis |
ORPHA:1458 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl... |
ORPHA:141127 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Thin eyebrow |
OMIM:617635 |
Roifman Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79477 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
Chromosome 9P Deletion Syndrome |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Upslanted... |
OMIM:158170 |
Primary Myelofibrosis |
|
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:824 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Pachygyria, Ventricular septal defect, Lissencephaly |
OMIM:618325 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C... |
OMIM:264480 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Abnormal pulmonary vein morphology, Cyanosis, Hypoxemia |
ORPHA:199241 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
De Barsy Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... |
ORPHA:2962 |
Zellweger Syndrome |
|
Death in infancy, Epicanthus, Ventricular septal defect, Jaundice, Upslanted palpebral fissure |
ORPHA:912 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures, Ptosis |
OMIM:619762 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Epicanthus, Downslanted palpebral fissures |
ORPHA:1770 |
Maternal Phenylketonuria |
|
Epicanthus, Ventricular septal defect, Bilateral ptosis, Abnormal heart morphology, Coarctation o... |
ORPHA:2209 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pulmonic stenosis, Pulmon... |
OMIM:301056 |
Chromosome 18Q Deletion Syndrome |
|
Atrial septal defect, Epicanthus, Absence of the pulmonary valve, Ventricular septal defect, Pate... |
OMIM:601808 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, C... |
ORPHA:83617 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fist... |
OMIM:620024 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... |
ORPHA:1596 |
Seckel Syndrome 9 |
|
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Simplified gyral pa... |
OMIM:616777 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Cyanosis |
ORPHA:159 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Foam cells, Cyanosis |
ORPHA:747 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jau... |
ORPHA:26793 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:353281 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy |
ORPHA:169090 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Papa Syndrome |
|
Lymphadenopathy |
ORPHA:69126 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Dysphagia, Lymphadenopathy |
ORPHA:100026 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy |
OMIM:603909 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Ptosis |
OMIM:617239 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Coarctation of aorta, Subvalvular ao... |
OMIM:614114 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Polymicrogyria, Ventricular septal defect |
ORPHA:79243 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:98850 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Upslanted palpebral fissure, Telecanthus, Ventricular septal defect, Short palpebral fissure |
OMIM:620073 |
Carpenter Syndrome 1 |
|
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Transposition of th... |
OMIM:201000 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Pulmonary arter... |
OMIM:300963 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Downslanted palpebral f... |
OMIM:300472 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Double aortic arch |
OMIM:230900 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cyclopia, Abnormal nasolacrimal system morphology, Abnor... |
ORPHA:141099 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Prominent superficial blood ... |
ORPHA:740 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Ventricular septal defect |
ORPHA:85194 |
Diamond-Blackfan Anemia 7 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Ventricular septal defect, Cutis marmorata, Coarctation of aorta, ... |
OMIM:617602 |
Sézary Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Sotos Syndrome |
|
Ventricular septal defect, Sparse eyebrow, Patent ductus arteriosus, Muscular ventricular septal ... |
OMIM:117550 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:308240 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Meckel Syndrome 14 |
|
Cyanosis, Single ventricle |
OMIM:619879 |
Fanconi Anemia, Complementation Group N |
|
Epicanthus, Ventricular septal defect |
OMIM:610832 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Lymphadenopathy |
OMIM:257200 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ... |
ORPHA:52 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch,... |
OMIM:300712 |
Griscelli Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:381 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Keratoconjunctivitis sicca, Sparse eyelashes, Ventricular septal defect |
OMIM:234050 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Serkal Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
ORPHA:139466 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Upslanted palpebral fissure, Transposition of the great arteries, Long... |
ORPHA:1780 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Ventricular septal defect, Absent eyelashes, Abnormal vena cava morphology, Downs... |
ORPHA:166035 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pu... |
ORPHA:99106 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect, Downslanted palpebral fissures, Aplasia/Hyp... |
ORPHA:276432 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Esophageal Atresia |
|
Cyanosis, Ventricular septal defect, Coarctation of aorta, Coloboma, Tetralogy of Fallot |
ORPHA:1199 |
Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Immunodeficiency 91 And Hyperinflammation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
Distal Duplication 5Q |
|
Epicanthus, Ventricular septal defect, Dextrocardia, Chorioretinal coloboma, Downslanted palpebra... |
ORPHA:96097 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Telecanthus, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Down Syndrome |
|
Epicanthus, Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arte... |
OMIM:190685 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasi... |
OMIM:235255 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619183 |
Diaphanospondylodysostosis |
|
Increased nuchal translucency, Abnormal liver lobulation, Oligohydramnios |
OMIM:608022 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Cardiomegaly |
ORPHA:349 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta |
OMIM:300514 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Lateral Meningocele Syndrome |
|
Telecanthus, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic a... |
OMIM:130720 |
Eisenmenger Syndrome |
|
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Aortopulmonary window, Abnormal he... |
ORPHA:97214 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Ventricular septal defect, Atrial septal defect, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downsla... |
OMIM:178110 |
Filippi Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures |
ORPHA:3255 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C... |
ORPHA:1708 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... |
OMIM:164210 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Patent ductus... |
OMIM:610443 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... |
ORPHA:353277 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Elevated circulating as... |
OMIM:614866 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Asplenia, Cryptorchidism, Patent ductus arteriosus, Hydrops fetalis, Abnormal liv... |
ORPHA:99776 |
Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
Fraser Syndrome 1 |
|
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos |
OMIM:219000 |
19P13.12 Microdeletion Syndrome |
|
Atrial septal defect, Epicanthus, Synophrys, Ventricular septal defect |
ORPHA:254346 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Chops Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Synophrys, Anomalous pulmonary venous return... |
OMIM:616368 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Ventricular septal defect, Patent fora... |
OMIM:615582 |
Charge Syndrome |
|
Compulsive behaviors, Microphthalmia, Anophthalmia, Attention deficit hyperactivity disorder |
ORPHA:138 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Legionnaires Disease |
|
Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy |
ORPHA:549 |
Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Myasthenia Gravis |
|
Acrocyanosis, Ptosis |
ORPHA:589 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Ventricular septal defect, Highly arched eyebrow, Synophrys, Downslanted palpebral f... |
OMIM:609460 |
Costello Syndrome |
|
Epicanthus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic car... |
ORPHA:3071 |
Cardiofacioneurodevelopmental Syndrome |
|
Upslanted palpebral fissure, Atrioventricular canal defect, Ventricular septal defect, Pulmonic s... |
OMIM:619123 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Ventricular septal defect, Patent ductus arteriosus, Long eyelashes,... |
OMIM:606232 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... |
OMIM:620025 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage,... |
ORPHA:163979 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Sparse eyebrow, Coarcta... |
OMIM:244450 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Lymphadenopathy |
OMIM:616100 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Patent ductus arteriosus, Hepatosplenomegaly, Abnormal heart morpholog... |
ORPHA:354 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sparse eyebrow, Ventricular septal defect, Upslanted palpebral fissure, Downslanted palpebral fis... |
OMIM:612530 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:610168 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Pulmonary artery ste... |
OMIM:100300 |
Lateral Meningocele Syndrome |
|
Epicanthus, Ventricular septal defect, Downslanted palpebral fissures, Iris coloboma, Ptosis |
ORPHA:2789 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology... |
ORPHA:457279 |
Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Anorexia |
ORPHA:514 |
Histiocytoid Cardiomyopathy |
|
Stroke-like episode, Cyanosis, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Abnormal eyelash morphology, Nasolacrimal duc... |
OMIM:147791 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Ventricular septal defect, Synophrys, Optic disc coloboma, Coloboma, Atrial septal de... |
ORPHA:251014 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... |
ORPHA:96167 |
Omenn Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:39041 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:613011 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Telecanthus, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteri... |
OMIM:616894 |
C Syndrome |
|
Upslanted palpebral fissure, Ventricular septal defect, Epicanthus, Patent ductus arteriosus |
OMIM:211750 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
Cohen Syndrome |
|
Ventricular septal defect, Abnormal eyelid morphology, Abnormal eyelash morphology, Mitral valve ... |
ORPHA:193 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Dea... |
OMIM:214100 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Downslanted palpebral fissures, Cardiomegaly |
OMIM:617022 |
Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia, Lymphadenopathy |
ORPHA:520 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch |
ORPHA:250989 |
19Q13.11 Microdeletion Syndrome |
|
Sparse or absent eyelashes, Ventricular septal defect, Sparse lateral eyebrow |
ORPHA:217346 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85450 |
Syndromic Diarrhea |
|
Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Patent ductus art... |
ORPHA:84064 |
Cinca Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1451 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy |
ORPHA:97289 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... |
ORPHA:99103 |
Chime Syndrome |
|
Epicanthus, Ventricular septal defect, Pulmonary valve atresia, Erythema, Upslanted palpebral fis... |
ORPHA:3474 |
Classical Ehlers-Danlos Syndrome |
|
Epicanthus, Prematurely aged appearance, Poor wound healing, Dermatochalasis, Mitral valve prolap... |
ORPHA:287 |
Felty Syndrome |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:47612 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage |
ORPHA:369929 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Synophrys, Pulmonary art... |
ORPHA:261494 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Coarctation of aorta, Pulmonary artery atresia, Poly... |
ORPHA:1692 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Cardiomegaly, Moyamoya phenomenon, Calcification of the aorta, Aortic aneurysm, ... |
ORPHA:51 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
OMIM:301078 |
3Q29 Microduplication Syndrome |
|
Aniridia, Ventricular septal defect, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures |
OMIM:617164 |
Autosomal Recessive Robinow Syndrome |
|
Atrial septal defect, Epicanthus, Death in infancy, Ventricular septal defect, Abnormal pulmonary... |
ORPHA:1507 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia,... |
ORPHA:1655 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy |
ORPHA:160 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect, Ptosis |
OMIM:309520 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Large placenta, Jaundice, Hepatic failure, Cholestasis, ... |
OMIM:222470 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Long eyelashes, Pulmonic ste... |
OMIM:614609 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:453499 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Ventricular septal defect, Optic disc coloboma, Tetralogy of Fallot, Downslant... |
OMIM:174300 |
Short-Rib Thoracic Dysplasia 12 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Neonatal death, Patent foramen o... |
OMIM:269860 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Synophrys, Patent ductus arteriosus, Double outlet right ventricle, Up... |
ORPHA:163956 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Synophrys, Coronary artery fistula, Abnormal cardiac sep... |
OMIM:614294 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
X Small Rings |
|
Epicanthus, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Long palpebra... |
ORPHA:96201 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia |
OMIM:610978 |
Feingold Syndrome 1 |
|
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Upslanted pa... |
OMIM:164280 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:609053 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... |
ORPHA:2473 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Patent ductus a... |
ORPHA:79345 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Blepharophimosis, Patent foramen... |
OMIM:613457 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyebrow, Ventricular septal defect, Downslanted palpebral fissures, Sparse eyelashes |
OMIM:250410 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
Carney Triad |
|
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy |
ORPHA:139411 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Optic dis... |
OMIM:618454 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Abnormal eyelid morphology, Myocarditis, Erythema, Vasc... |
ORPHA:221 |
Unilateral Polymicrogyria |
|
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology |
ORPHA:268943 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Epicanthus, Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosi... |
OMIM:300998 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Jacobsen Syndrome |
|
Death in infancy, Epicanthus, Ectropion, Ventricular septal defect, Coarctation of aorta, Eyelid ... |
ORPHA:2308 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Ventricular septal defect, Absent eyelashes, Patent ductus arteriosus, Yellow subcuta... |
OMIM:256520 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Ventricular septal defect, Sparse eyebrow, Left superior vena cava draining to corona... |
ORPHA:464738 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Doubl... |
OMIM:300166 |
Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
Opitz Gbbb Syndrome |
|
Telecanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Abnormal ... |
ORPHA:2745 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cyclopia, Downslanted palpebral fissures |
ORPHA:261236 |
16Q24.3 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Dilated cardiomyopathy, Ventricular septal defect, Highly arched eye... |
ORPHA:261250 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly |
OMIM:606367 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:158061 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Oxygen desaturation ... |
ORPHA:60025 |
Sarcoidosis |
|
Hepatomegaly, Hemolytic anemia, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ... |
ORPHA:797 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... |
ORPHA:2396 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures, Thick eyebrow, Death in adolescence |
OMIM:619229 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Downslanted palpebral fissures, Iris coloboma |
OMIM:222448 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Periventricular heterotopia, Aortic valve atresia, Gray matter heterot... |
OMIM:619895 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:809 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Distal Deletion 19P |
|
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect, Thick eyebrow |
ORPHA:96129 |
Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Ectropion, Ventricular septal defect, Almond-shaped palpebral fissure, Synophrys, Pat... |
OMIM:618268 |
Ogden Syndrome |
|
Bicuspid aortic valve, Abnormal eyelid morphology, Cardiomegaly, Secundum atrial septal defect, A... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect, Epicanthus, Downslanted palpebral fissures |
OMIM:617798 |
Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100080 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Shallow orbits, Aortic va... |
OMIM:277600 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Downslanted palpebral fissures, Ventricular septal defect, Long eyelashes, Thick eyebrow |
OMIM:212066 |
Thauvin-Robinet-Faivre Syndrome |
|
Epicanthus, Ventricular septal defect, Mitral valve prolapse, Coloboma, Varicose veins, Retinal c... |
OMIM:617107 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Large placenta, Pulmonary artery stenosi... |
ORPHA:96334 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:436159 |
Hajdu-Cheney Syndrome |
|
Epicanthus, Telecanthus, Ventricular septal defect, Synophrys, Patent ductus arteriosus, Long eye... |
OMIM:102500 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Long eyelashes, D... |
ORPHA:79329 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Patent ductus arteriosus, Atrial septal defect,... |
ORPHA:1519 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy |
OMIM:614700 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Coarctation of aorta, Eyelid coloboma, Chorioretinal coloboma, Iris co... |
ORPHA:268249 |
Duane-Radial Ray Syndrome |
|
Epicanthus, Ventricular septal defect, Retinal coloboma, Atrial septal defect, Iris coloboma, Vas... |
OMIM:607323 |
Bohring-Opitz Syndrome |
|
Upslanted palpebral fissure, Atrial septal defect, Epicanthus, Ventricular septal defect |
OMIM:605039 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Lymphadenopathy |
OMIM:304790 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
Lig4 Syndrome |
|
Lymphadenopathy |
ORPHA:99812 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:540 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Epicanthus, Ventricular septal defect, Long eyelashes, Pulmonic stenosis, Atrial septal defect, H... |
OMIM:607721 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Ventricular septal defect, Highly arched eyebrow, Aortic valve stenosis, Ptosis |
OMIM:272950 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:610377 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:613309 |
Familial Pancreatic Carcinoma |
|
Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:1333 |
Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Interface hepatitis |
OMIM:243150 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Medial calcification of large arteries, Transient ischemic att... |
ORPHA:51608 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:33226 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Upslanted ... |
OMIM:616975 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:615895 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph nod... |
ORPHA:50918 |
Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
Cutaneous Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Upslanted palpebral fissure, Shallow orbits... |
OMIM:301030 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Macular hypoplasia, Lymphadenopathy |
OMIM:214500 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Narrow palpebral fissure, L... |
ORPHA:96121 |
Omodysplasia 1 |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Pulmonary artery stenosis, Popliteal... |
OMIM:258315 |
Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Ventricular septal defect, Synophrys, Nasolacrimal duct obstruction, Upslanted palpeb... |
OMIM:613458 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl... |
OMIM:157800 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy |
OMIM:620232 |
Poems Syndrome |
|
Pericardial effusion, Acrocyanosis |
ORPHA:2905 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia |
ORPHA:96191 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dacryocystitis, Coloboma, Ventricular septal defect, Downslanted palpebral fissures |
ORPHA:251028 |
Renpenning Syndrome 1 |
|
Epicanthus, Telecanthus, Ventricular septal defect, Situs inversus totalis, Upslanted palpebral f... |
OMIM:309500 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnorma... |
ORPHA:2092 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Prominent eyelashes, Abnormal heart morpholo... |
ORPHA:1465 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:603553 |
Trichothiodystrophy |
|
Epicanthus, Ventricular septal defect, Prematurely aged appearance, Cardiomyopathy, Keratoconjunc... |
ORPHA:33364 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Ventricular septal defect, Synophrys, Upslanted palpebral fissure, Pulmonic stenosis,... |
ORPHA:488632 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:267700 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit... |
ORPHA:48435 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Ectopic thymus tissue, Anophthalmia |
OMIM:113620 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Ventricular septal defect, Patent ductus arteriosus, Lower eyelid colobom... |
OMIM:154400 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... |
OMIM:608328 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology, Hemobilia... |
ORPHA:512 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Ventricular septal defect, Mitral atresia, Portal hypertension, Ascending aorta hypoplasia, Muscu... |
OMIM:619503 |
Distal 22Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Ventricular septal defect, Patent ductus arteriosus, Optic disc colo... |
ORPHA:261337 |
Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the aorta |
OMIM:146510 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Abnormal nasolacrimal system morphology, Ventricular septal defect, Patent ... |
ORPHA:3047 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Absent lacrimal punctum, Ventricular septal defect, Sparse eyelashes, Sparse eyebrow, Ankylobleph... |
ORPHA:1071 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h... |
OMIM:123700 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617591 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Hypertrophic ca... |
ORPHA:506 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent foramen ovale, Mitral valve prol... |
OMIM:249420 |
Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Jaundice, B... |
ORPHA:3310 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatomegaly, Ventricular septal defect, Microvesicular hepatic steatosis, Macronodular cirrhosis... |
OMIM:619418 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy |
ORPHA:93552 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
Pitt-Hopkins Syndrome |
|
Upslanted palpebral fissure, Acrocyanosis |
ORPHA:2896 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Sparse eyebrow, Mitral valve prolapse, Ascending tubular aorta aneurys... |
ORPHA:444072 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy |
ORPHA:139402 |
Trisomy 18 |
|
Atrial septal defect, Epicanthus, Ventricular septal defect, Blepharophimosis, Cyclopia, Iris col... |
ORPHA:3380 |
Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Cutis marmorata, Highly arched eyebrow, Curly eyelashes, Synophrys, Op... |
OMIM:122470 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Alg9-Cdg |
|
Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right v... |
ORPHA:79328 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Death in c... |
OMIM:602535 |
Q Fever |
|
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:781 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Upslanted palpebral fissure, Ventricular septal defect |
OMIM:619306 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Ventricular septal defect, Cutis marmorata, Abnormal eyelash morphology, Patent ductu... |
ORPHA:818 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Patent foramen ovale, Synophrys, Patent ductus ... |
ORPHA:444077 |
Lymphatic Filariasis |
|
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy |
ORPHA:2035 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Epicanthus, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse... |
ORPHA:500095 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atri... |
OMIM:274000 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Fanconi Anemia, Complementation Group C |
|
Epicanthus, Bruising susceptibility, Ventricular septal defect |
OMIM:227645 |
Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Ventricular septal defect, Highly arched eyebrow, Secundum at... |
OMIM:616268 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Atrial septal defect, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Atrial septal defect, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Intraventricu... |
ORPHA:363958 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
ORPHA:79124 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy |
OMIM:309801 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:453504 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Muscular ventricul... |
OMIM:210710 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:352665 |
Hajdu-Cheney Syndrome |
|
Telecanthus, Mitral stenosis, Ventricular septal defect, Synophrys, Patent ductus arteriosus, Aor... |
ORPHA:955 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Opitz Gbbb Syndrome |
|
Telecanthus, Ventricular septal defect |
OMIM:300000 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Ptosis |
OMIM:600373 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis |
OMIM:259900 |
Noonan Syndrome 1 |
|
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic s... |
OMIM:163950 |
Myhre Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, ... |
OMIM:139210 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Epicanthus, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Abnormal l... |
ORPHA:466791 |
Fryns Syndrome |
|
Atrial septal defect, Ventricular septal defect, Narrow palpebral fissure, Stillbirth, Blepharoph... |
OMIM:229850 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Agitation, Bone marrow hypocellularity |
OMIM:615688 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Abnormal anatomic location of th... |
ORPHA:2461 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Pachygyria, Ventricular septal defect, Hepatic fibrosis |
OMIM:263520 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Abnormality of neuron... |
ORPHA:464311 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Nasolacrimal duct obstruction, Coarcta... |
OMIM:616145 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Ventricular septal defect, Synophrys, Ventricular septal hypertrophy, Thin eyebrow, ... |
OMIM:608670 |
Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Ventricular septal defect, Highly arched eyebrow, Synophrys, Partial anomalous... |
OMIM:301044 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h... |
ORPHA:2369 |
Apert Syndrome |
|
Ventricular septal defect, Overriding aorta, Downslanted palpebral fissures, Shallow orbits |
OMIM:101200 |
Coffin-Lowry Syndrome |
|
Telecanthus, Cutis marmorata, Highly arched eyebrow, Acrocyanosis, Downslanted palpebral fissures... |
OMIM:303600 |
Oculodentodigital Dysplasia |
|
Upslanted palpebral fissure, Epicanthus, Ventricular septal defect |
ORPHA:2710 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98849 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At... |
ORPHA:97360 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Lymphadenopathy |
ORPHA:83471 |
Primary Hyperoxaluria |
|
Cardiomyopathy, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
H Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:168569 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... |
ORPHA:124 |
Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Venous insufficiency, Ascending tubular aorta aneurysm, Keratoconjunctivitis sicca, A... |
ORPHA:285 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Patent ductus arteriosus |
OMIM:619480 |
Osteopathia Striata With Cranial Sclerosis |
|
Patent ductus arteriosus, Atrial septal defect, Epicanthus, Ventricular septal defect |
OMIM:300373 |
Larsen Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Epicanthus, Atrial septal defect, Bicuspid aortic valve, Ventricula... |
OMIM:607872 |
Familial Dysautonomia |
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Acrocyanosis |
ORPHA:1764 |
Zttk Syndrome |
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Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent ductus arteriosus, Atrial septal de... |
OMIM:617140 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Ventricular septal defect |
OMIM:615503 |
Granulomatous Disease, Chronic, X-Linked |
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Splenomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Mosaic Trisomy 20 |
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Upslanted palpebral fissure, Dysplastic tricuspid valve, Ventricular septal defect, Abnormal mitr... |
ORPHA:1724 |
Diets-Jongmans Syndrome |
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Umbilical hernia, Interrupted inferior vena cava with azygous continuation, Ventricular septal de... |
OMIM:618846 |
Common Variable Immunodeficiency |
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Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Rabson-Mendenhall Syndrome |
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Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio... |
ORPHA:769 |
Chromosome 13Q14 Deletion Syndrome |
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Epicanthus, Ventricular septal defect, Chorioretinal coloboma, Patent foramen ovale, Iris coloboma |
OMIM:613884 |
Cerebrocostomandibular Syndrome |
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Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Downslante... |
OMIM:117650 |
Hennekam Syndrome |
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Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy |
ORPHA:2136 |
Selective Igm Deficiency |
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Lymphadenitis, Lymphadenopathy |
ORPHA:331235 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Broad eyebrow, Palpebral edema, Bicuspid aortic valve, Ventricular septal defect, Synophrys, Jaun... |
OMIM:619475 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Ventricular septal defect, Abnormal eyelash morphology, Synophrys, P... |
OMIM:619488 |
Meier-Gorlin Syndrome 7 |
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Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Thin eye... |
OMIM:617063 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Lymphadenopathy |
OMIM:607944 |
Smith-Lemli-Opitz Syndrome |
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Death in infancy, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Severe photose... |
OMIM:270400 |
Vater/Vacterl Association |
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Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:37042 |
Tangier Disease |
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Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly |
ORPHA:31150 |
Kabuki Syndrome 1 |
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Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Sparse eyebrow, Bilateral... |
OMIM:147920 |
Multiple Myeloma |
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Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Ventricular septal defect, Periventricular heterotopia, Patent ductus ar... |
OMIM:615948 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:619575 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Hypoplastic aortic arch |
ORPHA:457284 |
Simpson-Golabi-Behmel Syndrome |
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Death in infancy, Epicanthus, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Do... |
ORPHA:373 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... |
OMIM:235730 |
Renal Agenesis |
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Ventricular septal defect |
ORPHA:411709 |
Autoimmune Lymphoproliferative Syndrome |
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Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... |
ORPHA:3261 |
Diamond-Blackfan Anemia 1 |
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Epicanthus, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Atrial septal de... |
OMIM:105650 |
Microphthalmia, Syndromic 1 |
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Microphthalmia, Anophthalmia, Self-mutilation, Aggressive behavior |
OMIM:309800 |
Chédiak-Higashi Syndrome |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:167 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Costello Syndrome |
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Epicanthus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal de... |
OMIM:218040 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect |
ORPHA:464306 |
Lymphangioleiomyomatosis |
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Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy |
ORPHA:538 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Erythema, Ventricular septal defect |
OMIM:614653 |
Immunodeficiency 31C |
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Splenomegaly, Lymphadenopathy |
OMIM:614162 |
Williams Syndrome |
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Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... |
ORPHA:904 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
Orofaciodigital Syndrome Type 14 |
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Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Re... |
ORPHA:434179 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Epicanthus, Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary artery ste... |
ORPHA:459070 |
Okamoto Syndrome |
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Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Cyanosis |
ORPHA:293987 |
Adenocarcinoma Of The Anal Canal |
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Lymphadenopathy |
ORPHA:424016 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Almond-shaped palpebral fissure, Patent ductus ... |
ORPHA:438213 |
Perlman Syndrome |
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Interrupted aortic arch |
OMIM:267000 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Epicanthus, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic... |
ORPHA:363700 |
Coccidioidomycosis |
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Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:228123 |
Ulnar-Mammary Syndrome |
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Ventricular septal defect |
ORPHA:3138 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, Highly arched eyebrow, Tricu... |
OMIM:143095 |
Coffin-Siris Syndrome 1 |
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Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Long eyelashes, Atrial sept... |
OMIM:135900 |
Cornelia De Lange Syndrome |
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Ventricular septal defect, Cutis marmorata, Highly arched eyebrow, Curly eyelashes, Synophrys, Lo... |
ORPHA:199 |
Familial Mediterranean Fever |
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Splenomegaly, Lymphadenopathy |
ORPHA:342 |
Keutel Syndrome |
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Miscarriage, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphera... |
OMIM:245150 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal heart morphology, Upslan... |
ORPHA:268261 |
Yunis-Varon Syndrome |
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Sparse eyelashes, Ventricular septal defect, Cardiomegaly, Sparse eyebrow, Upslanted palpebral fi... |
ORPHA:3472 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:243800 |
Behçet Disease |
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Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:117 |
Craniotubular Dysplasia, Ikegawa Type |
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Epicanthus, Ventricular septal defect |
OMIM:619727 |
Brucellosis |
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Hypersplenism, Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:1304 |
Ileal Neuroendocrine Tumor |
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Lymphadenopathy |
ORPHA:100078 |
Roberts-Sc Phocomelia Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Coloboma, Eyelid coloboma, Stillbirth, Shall... |
OMIM:268300 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... |
OMIM:194050 |
Early Infantile Epileptic Encephalopathy |
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Umbilical hernia, Pachygyria, Ventricular septal defect |
ORPHA:1934 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Narrow palpebral fi... |
OMIM:619522 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Epicanthus, Telecanthus, Ventricular septal defect, Upslanted palpebral fissure, Narrow palpebral... |
OMIM:620330 |
Immunodeficiency 82 With Systemic Inflammation |
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Splenomegaly, Follicular hyperplasia, Anorexia, Lymphadenopathy |
OMIM:619381 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Cyst of the ductus choledochus, Patent ductus arteriosus, Hypoplastic nipples |
ORPHA:480880 |
Chikungunya |
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Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Fragile skin |
OMIM:271640 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Lymphadenopathy |
ORPHA:667 |
Hydrolethalus Syndrome 1 |
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Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect |
OMIM:236680 |
Crimean-Congo Hemorrhagic Fever |
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Splenomegaly, Agitation, Anorexia, Lymphadenopathy |
ORPHA:99827 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Neoplasm of the thymus, Fatiguable weakness of proximal limb muscles, Anorexia, Abnormal lymph no... |
ORPHA:99889 |
Marburg Hemorrhagic Fever |
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Aggressive behavior, Anorexia, Lymphadenopathy |
ORPHA:99826 |
Igg4-Related Submandibular Gland Disease |
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Lymphadenopathy |
ORPHA:449432 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Cardiomyopathy... |
OMIM:312870 |
Wolf-Hirschhorn Syndrome |
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Epicanthus, Ventricular septal defect, Highly arched eyebrow, Atrial septal defect, Iris coloboma... |
OMIM:194190 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Elevated circulating growth hormone concentration, Impaired neutro... |
ORPHA:79318 |
Peters-Plus Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Narrow palpebra... |
OMIM:261540 |
Systemic Lupus Erythematosus |
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Lymphadenopathy |
ORPHA:536 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Splenomegaly, Lymphadenopathy |
OMIM:256040 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
ORPHA:672 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Lymphadenopathy |
ORPHA:79078 |
Pallister-Killian Syndrome |
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Telecanthus, Epicanthus, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Patent duct... |
OMIM:601803 |
Leptospirosis |
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Anorexia, Lymphadenopathy |
ORPHA:509 |
Igg4-Related Kidney Disease |
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Lymphadenitis, Lymphadenopathy |
ORPHA:449395 |
African Trypanosomiasis |
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Splenomegaly, Hepatosplenomegaly, Aggressive behavior, Lymphadenopathy |
ORPHA:3385 |
Primary Sjögren Syndrome |
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Lymphadenopathy |
ORPHA:289390 |
Igg4-Related Ophthalmic Disease |
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Lymphadenopathy |
ORPHA:449563 |
Goodpasture Syndrome |
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Cyanosis |
OMIM:233450 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Telecanthus, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow,... |
ORPHA:261552 |
Blau Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:90340 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Sotos Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic aneurysm, ... |
ORPHA:821 |
Genitopatellar Syndrome |
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Atrial septal defect, Pachygyria, Ventricular septal defect, Periventricular heterotopia |
OMIM:606170 |
Ulnar-Mammary Syndrome |
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Ventricular septal defect, Sparse lateral eyebrow |
OMIM:181450 |
Townes-Brocks Syndrome 1 |
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Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Penile Agenesis |
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Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
Yunis-Varon Syndrome |
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Epicanthus, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Upslanted palpebral fiss... |
OMIM:216340 |