Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
hemorrhage Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Junem1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Junem1(IMPC)Mbp HET E15.5 0.00
abnormal placenta morphology Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Junem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Junem1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Junem1(IMPC)Mbp HET Early adult 0.00
edema Junem1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Junem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Junem1(IMPC)Mbp HOM E9.5 0.00
edema Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal lymph node morphology Junem1(IMPC)Mbp HET Early adult 0.00
increased prepulse inhibition Junem1(IMPC)Mbp HET   Early adult 2.83×10-05
abnormal blood vessel morphology Junem1(IMPC)Mbp HOM E15.5 0.00
hyperactivity Junem1(IMPC)Mbp HET Early adult 9.20×10-05
anophthalmia Junem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

120 Images

Gross Morphology Embryo E14.5-E15.5

Images

17 Images

MicroCT E9.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

Gross Morphology Embryo E9.5

Images

15 Images

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
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Nonimmune hydrops f... OMIM:231100
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... 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
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc... OMIM:618300
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Synophrys, Downslanted palpebral fissures, Abnormal... ORPHA:401935
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Truncus arteriosus, Intrauterine growth retardation, Short stature OMIM:611867
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Adams-Oliver Syndrome 6
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension OMIM:616589
Schizophrenia 15
Hyperactivity OMIM:613950
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine aminotransferase conc... OMIM:613759
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology, Blepharophimosis ORPHA:2516
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Oligohyd... ORPHA:3032
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, ... ORPHA:3426
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Hepatomegaly, Abnorm... ORPHA:860
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Deat... OMIM:617478
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio... OMIM:614876
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Hypertension, Edema OMIM:189800
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrophic cardiomyopath... OMIM:615415
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... ORPHA:1457
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd... OMIM:231530
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Kerion Celsi
Lymphadenopathy ORPHA:499
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Meacham Syndrome
Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne... OMIM:608978
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept... OMIM:601927
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus OMIM:617516
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... OMIM:600001
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Verheij Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Ventricular sep... OMIM:615583
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Acrocardiofacial Syndrome
Truncus arteriosus, Death in infancy, Long eyelashes, Coarctation of aorta, Mitral stenosis, Tetr... ORPHA:2008
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m... ORPHA:3400
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Edema, Microcytic anemia ORPHA:79278
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Downslanted palpebral fissures, Unilateral ptosis, Tetralogy of Fallot, Patent... ORPHA:3304
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa... OMIM:224100
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Patent ductus arteriosus, Ventricular ... ORPHA:261120
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Neuralgic Amyotrophy
Short palpebral fissure, Epicanthus, Acrocyanosis ORPHA:2901
Emanuel Syndrome
Hooded eyelid, Hydrocephalus, Truncus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Ptosi... ORPHA:96170
Emanuel Syndrome
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se... OMIM:609029
Carcinoid Syndrome
Hepatic necrosis, Elevated circulating hepatic transaminase concentration ORPHA:100093
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis OMIM:300752
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Aortic Arch Interruption
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... ORPHA:2299
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Hydrops fetalis, Cholelithiasis, Pleural... ORPHA:846
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Polymicrogyria, Vascular ring, Pachygyria, Atrial septal defect, Ventricular septal defect OMIM:603387
Li-Campeau Syndrome
Telecanthus, Patent foramen ovale, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Patent ... OMIM:619189
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar... ORPHA:980
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Hepatic necrosis, Leukopen... OMIM:127550
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Intellectual Developmental Disorder, Autosomal Recessive 73
Downslanted palpebral fissures, Ventricular septal defect, Epicanthus, Patent ductus arteriosus OMIM:619717
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta, Neonatal death, Patent ductus arteriosus OMIM:601612
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hepatic steatosis, Periportal fibrosis OMIM:201475
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:86893
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Protoporphyria, Erythropoietic, 1
Edema, Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Gillespie Syndrome
Truncus arteriosus, Aniridia OMIM:206700
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Neonatal death, Hepatic steatosis OMIM:231680
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Oligohydramnios, He... OMIM:267010
Perching Syndrome
Cyanosis OMIM:617055
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Anophthalmia ORPHA:411986
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus OMIM:126320
Lambert Syndrome
Jaundice, Branchial anomaly, Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect ORPHA:1296
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Epicanthus, Patent ductus arteriosus, Ventricular septal defect, Hyp... OMIM:616276
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Laryngeal Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Waardenburg Syndrome Type 3
Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Acrocyanosis, Atrial septal defect, B... ORPHA:896
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia... OMIM:235700
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect OMIM:620203
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... OMIM:604169
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Elevated circulating hepatic transaminase concen... ORPHA:71212
Anencephaly 2
Anophthalmia OMIM:619452
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Congenital Tracheomalacia
Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphology, Tetra... ORPHA:95430
8Q12 Microduplication Syndrome
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Epicanthus, Atrial septal defect, Ven... ORPHA:228399
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... OMIM:192430
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi... ORPHA:1461
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:26791
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Li-Ghorbani-Weisz-Hubshman Syndrome
Telecanthus, Epicanthus, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defec... OMIM:618974
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Joubert Syndrome 15
Exencephaly OMIM:614464
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... OMIM:613470
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Anemia, Thrombocytopenia, Hepatosplenomegaly, Edema ORPHA:101028
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Atrial Septal Defect 1
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... OMIM:108800
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... OMIM:615996
Distal 22Q11.2 Microdeletion Syndrome
Aortic aneurysm, Highly arched eyebrow, Truncus arteriosus, Short stature, Growth delay, Intraute... ORPHA:261330
Ichthyosis, Congenital, Autosomal Recessive 4B
Ectropion, Neonatal death, Death in infancy OMIM:242500
Catel-Manzke Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect ORPHA:1388
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short palpebral fissure, Perimembranous ventricular septal defect, Atrioventricular canal defect,... ORPHA:508498
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Fetal Trimethadione Syndrome
Transposition of the great arteries, Synophrys, Ptosis, Tetralogy of Fallot, Epicanthus, Atrial s... ORPHA:1913
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Hypoxemia, Secundum atrial septal defect, Epicanthus, Abnormal pulmonary ... ORPHA:2257
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus OMIM:617044
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Ptosis, Tetralogy of Fallot, Epicanthus, Atria... OMIM:612946
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Global Developmental Delay With Or Without Impaired Intellectual Development
Long palpebral fissure, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:618330
Breath-Holding Spells
Cyanosis OMIM:607578
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Matthew-Wood Syndrome
Microphthalmia, Abnormal spleen morphology, Anophthalmia ORPHA:2470
Congenital Heart Block
Patent foramen ovale, Pericardial effusion, Patent ductus arteriosus, Cyanosis, Endocardial fibro... ORPHA:60041
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilat... OMIM:306955
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Hepati... ORPHA:848
Indomethacin Embryofetopathy
Atrial septal defect, Ventricular septal defect, Cardiomyopathy ORPHA:1909
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect, Death in infancy OMIM:613730
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in childhood, Death in infancy, Sparse eyelashes, Downslanted palpebral fissures, Sparse ey... OMIM:616901
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Hypoxemia, Ca... ORPHA:439
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Umbilical hernia, Intrauterine growth retardation, Tricuspid atr... ORPHA:567
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hypertension, Biliary hy... ORPHA:731
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Long-Olsen-Distelmaier Syndrome
Polymicrogyria, Elevated circulating alanine aminotransferase concentration, Secundum atrial sept... OMIM:620609
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Noonan Syndrome 8
Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertr... OMIM:615355
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Coloboma, Epicanthus, Patent ductus arteriosus, Cardiomegaly, Atrial septal... OMIM:618652
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... ORPHA:3092
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Bicuspid pulm... ORPHA:3427
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Abnormal aortic morphology, Ventricular septal defect, Tetra... ORPHA:1166
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short palpebral fissure, Ventricular hypertrophy, Synophrys, Pulmonic stenosis, Coarctation of ao... ORPHA:284169
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st... OMIM:614823
Acute Liver Failure
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic periportal necrosis, H... ORPHA:90062
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... ORPHA:2306
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Dysgyria,... OMIM:613834
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short palpebral fissure, Perimembranous ventricular septal defect, Transposition of the great art... OMIM:612474
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Aase-Smith Syndrome I
Ptosis, Ventricular septal defect, Death in infancy OMIM:147800
Immunodeficiency 27A
Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymph node OMIM:209950
Hereditary Elliptocytosis
Jaundice, Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal ja... ORPHA:288
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Misalignment of the pulmonary veins, Cyanosis, Death in infancy OMIM:265120
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline p... OMIM:605479
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect OMIM:616898
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Phaver Syndrome
Hypoplastic aortic arch, Pulmonary artery atresia, Myelomeningocele, Coarctation of aorta, Ventri... ORPHA:2876
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o... ORPHA:555874
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Downslanted palpebral fissures, Ventricular septal defect, Epicanthus OMIM:602501
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Pleural Mesothelioma
Lymphadenopathy, Dysphagia ORPHA:50251
Hardikar Syndrome
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:301068
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Polyhydramnios, Cholestasi... OMIM:261515
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... OMIM:619657
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane... OMIM:613658
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... OMIM:612561
Noonan Syndrome 9
Pulmonic stenosis, Ptosis, Coarctation of aorta, Downslanted palpebral fissures, Sparse eyebrow, ... OMIM:616559
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Hypoplastic aortic arch, Highly arched eyebr... ORPHA:508488
Congenital Toxoplasmosis
Microphthalmia, Lymphadenopathy ORPHA:858
Alg3-Cdg
Decreased liver function, Neural tube defect, Abnormal circulating enzyme concentration or activi... ORPHA:79321
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect, Hepatomegaly OMIM:620210
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Elevated circulating aldolase concentration, Reduced muscle 6-phosphofr... OMIM:232800
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... ORPHA:261183
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Patent ductus arteriosus, Abnormality of the pulmonary artery, Atrial sep... ORPHA:290
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... ORPHA:1727
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Patent foramen ovale, Hepatic fibrosis, Coarct... OMIM:606003
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Epicanthus OMIM:618506
Diamond-Blackfan Anemia 12
Ventricular septal defect, Elevated red cell adenosine deaminase activity OMIM:615550
Classic Hodgkin Lymphoma
Anorexia, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Cholestasis, Biliary cirrhosis, Patent ductus arteriosus after premature birth, Ele... OMIM:620454
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Postsynaptic Congenital Myasthenic Syndromes
Ptosis, Cyanosis ORPHA:98913
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
46,Xx Sex Reversal 5
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart OMIM:618901
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Ritscher-Schinzel Syndrome 1
Coloboma, Pulmonic stenosis, Aortic valve stenosis, Downslanted palpebral fissures, Tetralogy of ... OMIM:220210
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... OMIM:179613
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology ORPHA:1110
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Ventricular septal defect ORPHA:94066
Asbestos Intoxication
Hypoxemia, Myocardial fibrosis, Cyanosis, Cor pulmonale, Oxygen desaturation on exertion ORPHA:2302
Tetrasomy 15Q26
Atrial septal defect, Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bilateral ptosis, Highly arched eyebrow, Patent foramen ovale, Coloboma, Synophrys, Long eyelashe... ORPHA:329224
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Highly arched eyebrow, Laterally extended eyebrow, Coar... OMIM:600987
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Methimazole Embryofetopathy
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology ORPHA:1923
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Abnormal cortical gyration, Hepatomegaly ORPHA:2538
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati... OMIM:619525
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
You-Hoover-Fong Syndrome
Coarctation of aorta, Vascular ring, Double aortic arch OMIM:616954
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Lissencephaly, Atrial septal defect, Hypopla... OMIM:618142
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... OMIM:615559
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Epicanthus OMIM:314320
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Long palpebral fissure, Ptosis, Epicanthus, Patent ductus arteriosus, Atria... OMIM:615668
Holt-Oram Syndrome
Atrioventricular canal defect, Abnormal aortic morphology, Anomalous pulmonary venous return, Pat... ORPHA:392
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Dextrotransposition of the great a... OMIM:618619
Intellectual Developmental Disorder, X-Linked 112
Bicuspid aortic valve, Right aortic arch, Abnormal heart morphology OMIM:301111
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... OMIM:617168
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Congenital Fibrinogen Deficiency
Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruising susceptibility, S... ORPHA:335
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Epicanthus ORPHA:3369
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly ORPHA:2211
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Epicanthus, Patent ductus arteriosus, Ventricular septal defect, U... OMIM:619909
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Trisomy X
Atrial septal defect, Ventricular septal defect, Upslanted palpebral fissure, Epicanthus ORPHA:3375
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Patent foramen ovale, Synophrys, Downslanted palpebral fissures, Thick eye... OMIM:618950
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele OMIM:620511
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Kapur-Toriello Syndrome
Polymicrogyria, Tetralogy of Fallot, Pachygyria, Patent ductus arteriosus, Ventricular septal defect ORPHA:2328
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Stroke ORPHA:49827
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Cardiac Valvular Dysplasia 2
Central cyanosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, B... OMIM:620067
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Short stature, Coarctation of... OMIM:134780
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy ORPHA:444013
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Lip telangiectasia, Di... OMIM:610655
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Abnormal cortical gyration, Elevated circulating hepatic transaminase concentration, H... OMIM:614576
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality... ORPHA:1926
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Monosomy 18Q
Pulmonary valve defects, Dysplastic pulmonary valve, Aortic aneurysm, Absence of the pulmonary va... ORPHA:1600
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect OMIM:249270
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrioventricular canal defect, Absent gallbladder, Aortic valve stenosis... ORPHA:210122
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Polymicrogyria, Patent foramen ovale, Abnormal heart morphology, Umbili... ORPHA:500159
Hsd10 Disease, Infantile Type
Cardiomegaly, Cyanosis, Hypertrophic cardiomyopathy ORPHA:391428
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
Nephroblastoma
Lymphadenopathy, Aniridia ORPHA:654
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:613870
Digeorge Syndrome
Right aortic arch with mirror image branching, Patent ductus arteriosus, Cholelithiasis, Interrup... OMIM:188400
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Highly arched eyebrow, Patent foramen ovale, Pulmonary artery atresia, Sy... OMIM:618316
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Horizontal eyebrow, Thick eyebrow, Epicanthus, Narrow palpebral fissure, Ve... OMIM:615879
Pancreatic Colipase Deficiency
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Pachygyria, Patent ductus arteriosus ORPHA:452
Warsaw Breakage Syndrome
Cutis marmorata, Tetralogy of Fallot, Optic disc coloboma, Epicanthus, Ventricular septal defect OMIM:613398
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Inverted Duplicated Chromosome 15 Syndrome
Synophrys, Downslanted palpebral fissures, Tetralogy of Fallot, Epicanthus, Ventricular septal de... ORPHA:3306
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla... OMIM:619991
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... OMIM:270100
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Ventricular septal defect, Upper eyelid coloboma ORPHA:398156
Intellectual Developmental Disorder, Autosomal Dominant 48
Highly arched eyebrow, Synophrys, Long palpebral fissure, Patent ductus arteriosus, Bicuspid aort... OMIM:617751
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ... ORPHA:402075
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus OMIM:617021
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Polyhydramnios, Peritoneal abscess, Hypoplasia of the thymus, Abnorm... ORPHA:436252
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Acrocyanosis OMIM:614407
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se... OMIM:601005
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent urachus, Patent ductu... OMIM:618280
Developmental And Epileptic Encephalopathy 66
Dextrocardia, Synophrys, Downslanted palpebral fissures, Atrial septal defect, Ventricular septal... OMIM:618067
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Craniofaciofrontodigital Syndrome
Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, Anomalous branches of i... ORPHA:363705
Transketolase Deficiency
Hepatomegaly, Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, P... ORPHA:488618
Noonan Syndrome 10
Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertr... OMIM:616564
Beaulieu-Boycott-Innes Syndrome
Short palpebral fissure, Ventricular septal defect, Upslanted palpebral fissure, Patent ductus ar... OMIM:613680
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... ORPHA:3282