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 |
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Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Burkitt Lymphoma |
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Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
You-Hoover-Fong Syndrome |
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Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Ventricular septal defect, Highly arched eyebrow |
ORPHA:94066 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Methimazole Embryofetopathy |
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Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Tetrasomy 15Q26 |
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Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch |
OMIM:614846 |
Immunodeficiency, Common Variable, 2 |
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Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Polysyndactyly With Cardiac Malformation |
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Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Classic Hodgkin Lymphoma |
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Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy |
ORPHA:391 |
Recombinant Chromosome 8 Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... |
OMIM:179613 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Bilateral ptosis, Synoph... |
ORPHA:329224 |
Holt-Oram Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Immunodeficiency 64 With Lymphoproliferation |
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Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation |
OMIM:611134 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Sparse eyebrow, Sec... |
OMIM:600987 |
Immunodeficiency 27B |
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Generalized lymphadenopathy |
OMIM:615978 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Lissencephaly, Atri... |
OMIM:618142 |
Microphthalmia With Brain And Digit Anomalies |
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Microphthalmia, Anophthalmia |
ORPHA:139471 |
Trigonocephaly With Short Stature And Developmental Delay |
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Epicanthus, Ventricular septal defect |
OMIM:314320 |
Weiss-Kruszka Syndrome |
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Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Dextrotransp... |
OMIM:618619 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Anophthalmia |
OMIM:147250 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Abnormality of neuronal migration |
ORPHA:2772 |
Mitochondrial Phosphate Carrier Deficiency |
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Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
Microgastria-Limb Reduction Defect Syndrome |
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Atrial septal defect, Hepatomegaly, Truncus arteriosus, Abnormal cortical gyration |
ORPHA:2538 |
Congenital Fibrinogen Deficiency |
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Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... |
ORPHA:335 |
Noonan Syndrome 12 |
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Tetralogy of Fallot, Ventricular septal defect |
OMIM:618624 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
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Epicanthus, Ventricular septal defect |
ORPHA:3369 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Chromosome 5Q12 Deletion Syndrome |
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Atrial septal defect, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Long palpe... |
OMIM:615668 |
Pfapa Syndrome |
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Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
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Ventricular septal defect |
OMIM:620393 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Suleiman-El-Hattab Syndrome |
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Epicanthus, Ventricular septal defect, Highly arched eyebrow, Patent foramen ovale, Synophrys, At... |
OMIM:618950 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Ventricular septal defect |
OMIM:616816 |
Asbestos Intoxication |
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Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Oxygen desaturation on exertion |
ORPHA:2302 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy |
OMIM:618987 |
Laubry-Pezzi Syndrome |
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Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Pontocerebellar Hypoplasia, Type 17 |
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Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, U... |
OMIM:619909 |
Pancreatic Colipase Deficiency |
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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 |
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Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy |
ORPHA:444013 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Anophthalmia |
OMIM:206920 |
Hereditary Methemoglobinemia |
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Cyanosis |
ORPHA:621 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Encephalocele, Exencephaly, Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Diabetic Embryopathy |
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Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormal aortic morphology, Tr... |
ORPHA:1926 |
Encephalopathy, Ethylmalonic |
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Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Congenital Disorder Of Glycosylation, Type Iil |
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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 |
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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 |
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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 |
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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 |
|