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Gene: Jun MGI:96646

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Gene Summary

Name:
jun proto-oncogene
Synonyms:
Junc,  c-jun

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Junem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Junem1(IMPC)Mbp HOM   Early adult 0.00
abnormal blood vessel morphology Junem1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Junem1(IMPC)Mbp HOM E9.5 0.00
anophthalmia Junem1(IMPC)Mbp HET Early adult 0.00
hyperactivity Junem1(IMPC)Mbp HET   Early adult 4.35×10-05
edema Junem1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal eye morphology Junem1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Junem1(IMPC)Mbp HET Early adult 0.00
increased prepulse inhibition Junem1(IMPC)Mbp HET   Early adult 2.36×10-05
hemorrhage Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Junem1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Junem1(IMPC)Mbp HET E15.5 0.00
edema Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Junem1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube morphology Junem1(IMPC)Mbp HOM E9.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Gross Morphology Embryo E9.5

Images

15 Images

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Gross Morphology Embryo E14.5-E15.5

Images

17 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Human diseases caused by Jun mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Jun by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Acrocyanosis ORPHA:1764
Zttk Syndrome
Epicanthus, Ventricular septal defect, Sparse eyebrow, Patent ductus arteriosus, Atrial septal de... OMIM:617140
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Mosaic Trisomy 20
Upslanted palpebral fissure, Dysplastic tricuspid valve, Ventricular septal defect, Abnormal mitr... ORPHA:1724
Diets-Jongmans Syndrome
Umbilical hernia, Interrupted inferior vena cava with azygous continuation, Ventricular septal de... OMIM:618846
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio... ORPHA:769
Chromosome 13Q14 Deletion Syndrome
Epicanthus, Ventricular septal defect, Chorioretinal coloboma, Patent foramen ovale, Iris coloboma OMIM:613884
Cerebrocostomandibular Syndrome
Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Downslante... OMIM:117650
Hennekam Syndrome
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy ORPHA:2136
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Palpebral edema, Bicuspid aortic valve, Ventricular septal defect, Synophrys, Jaun... OMIM:619475
Degcags Syndrome
Abnormal eyebrow morphology, Ventricular septal defect, Abnormal eyelash morphology, Synophrys, P... OMIM:619488
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Thin eye... OMIM:617063
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Smith-Lemli-Opitz Syndrome
Death in infancy, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Severe photose... OMIM:270400
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly ORPHA:31150
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Sparse eyebrow, Bilateral... OMIM:147920
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Periventricular heterotopia, Patent ductus ar... OMIM:615948
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Simpson-Golabi-Behmel Syndrome
Death in infancy, Epicanthus, Ventricular septal defect, Cardiomyopathy, Atrial septal defect, Do... ORPHA:373
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Renal Agenesis
Ventricular septal defect ORPHA:411709
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Diamond-Blackfan Anemia 1
Epicanthus, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Atrial septal de... OMIM:105650
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Self-mutilation, Aggressive behavior OMIM:309800
Chédiak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Histidinemia
Hyperactivity ORPHA:2157
Costello Syndrome
Epicanthus, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal de... OMIM:218040
Dyrk1A-Related Intellectual Disability Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect ORPHA:464306
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Ventricular septal defect OMIM:614653
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... ORPHA:904
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Orofaciodigital Syndrome Type 14
Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Re... ORPHA:434179
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Epicanthus, Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary artery ste... ORPHA:459070
Okamoto Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... ORPHA:2729
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Almond-shaped palpebral fissure, Patent ductus ... ORPHA:438213
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Epicanthus, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic... ORPHA:363700
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, Highly arched eyebrow, Tricu... OMIM:143095
Coffin-Siris Syndrome 1
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Long eyelashes, Atrial sept... OMIM:135900
Cornelia De Lange Syndrome
Ventricular septal defect, Cutis marmorata, Highly arched eyebrow, Curly eyelashes, Synophrys, Lo... ORPHA:199
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Keutel Syndrome
Miscarriage, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonic stenosis, Periphera... OMIM:245150
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal heart morphology, Upslan... ORPHA:268261
Yunis-Varon Syndrome
Sparse eyelashes, Ventricular septal defect, Cardiomegaly, Sparse eyebrow, Upslanted palpebral fi... ORPHA:3472
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:243800
Behçet Disease
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:117
Craniotubular Dysplasia, Ikegawa Type
Epicanthus, Ventricular septal defect OMIM:619727
Brucellosis
Hypersplenism, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:1304
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coloboma, Eyelid coloboma, Stillbirth, Shall... OMIM:268300
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Pachygyria, Ventricular septal defect ORPHA:1934
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Narrow palpebral fi... OMIM:619522
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Epicanthus, Telecanthus, Ventricular septal defect, Upslanted palpebral fissure, Narrow palpebral... OMIM:620330
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Anorexia, Lymphadenopathy OMIM:619381
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Patent ductus arteriosus, Hypoplastic nipples ORPHA:480880
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Fragile skin OMIM:271640
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect OMIM:236680
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Agitation, Anorexia, Lymphadenopathy ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Fatiguable weakness of proximal limb muscles, Anorexia, Abnormal lymph no... ORPHA:99889
Marburg Hemorrhagic Fever
Aggressive behavior, Anorexia, Lymphadenopathy ORPHA:99826
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Cardiomyopathy... OMIM:312870
Wolf-Hirschhorn Syndrome
Epicanthus, Ventricular septal defect, Highly arched eyebrow, Atrial septal defect, Iris coloboma... OMIM:194190
Pmm2-Cdg
Elevated hepatic transaminase, Elevated circulating growth hormone concentration, Impaired neutro... ORPHA:79318
Peters-Plus Syndrome
Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Narrow palpebra... OMIM:261540
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... ORPHA:672
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Pallister-Killian Syndrome
Telecanthus, Epicanthus, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Patent duct... OMIM:601803
Leptospirosis
Anorexia, Lymphadenopathy ORPHA:509
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Aggressive behavior, Lymphadenopathy ORPHA:3385
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Goodpasture Syndrome
Cyanosis OMIM:233450
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Telecanthus, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow,... ORPHA:261552
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Sotos Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic aneurysm, ... ORPHA:821
Genitopatellar Syndrome
Atrial septal defect, Pachygyria, Ventricular septal defect, Periventricular heterotopia OMIM:606170
Ulnar-Mammary Syndrome
Ventricular septal defect, Sparse lateral eyebrow OMIM:181450
Townes-Brocks Syndrome 1
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:107480
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Yunis-Varon Syndrome
Epicanthus, Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Upslanted palpebral fiss... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Jun

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Jun.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
JunB regulates homeostasis and suppressive functions of effector regulatory T cells. Nature communications (December 2018) Junbtm1c(EUCOMM)Hmgu PMC6297218
JunB is essential for IL-23-dependent pathogenicity of Th17 cells. Nature communications (May 2017) Junbtm1a(EUCOMM)Hmgu PMC5460000

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Juntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Junem1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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