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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
preweaning lethality, complete penetrance Junem1(IMPC)Mbp HOM   Early adult 0.00
edema 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
anophthalmia Junem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Junem1(IMPC)Mbp HOM E9.5 0.00
abnormal blood vessel morphology Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal lymph node morphology Junem1(IMPC)Mbp HET Early adult 0.00
edema Junem1(IMPC)Mbp HET E15.5 0.00
abnormal neural tube morphology Junem1(IMPC)Mbp HOM E9.5 0.00
hyperactivity Junem1(IMPC)Mbp HET   Early adult 4.35×10-05
hemorrhage Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal eye morphology Junem1(IMPC)Mbp HET Early adult 0.00
increased prepulse inhibition Junem1(IMPC)Mbp HET   Early adult 2.36×10-05
abnormal placenta morphology Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Junem1(IMPC)Mbp HET E15.5 0.00
enlarged lymph nodes Junem1(IMPC)Mbp HET Early adult 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 Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 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