banner
Genes Phenotypes Help, News, Blog

Gene: Jun MGI:96646

Log in to follow

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
abnormal eye morphology Junem1(IMPC)Mbp HET Early adult 0.00
increased prepulse inhibition Junem1(IMPC)Mbp HET   Early adult 2.36×10-05
edema Junem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Junem1(IMPC)Mbp HOM   Early adult 0.00
abnormal blood vessel morphology Junem1(IMPC)Mbp HET E15.5 0.00
hemorrhage Junem1(IMPC)Mbp HOM E15.5 0.00
abnormal lymph node morphology Junem1(IMPC)Mbp HET Early adult 0.00
hyperactivity Junem1(IMPC)Mbp HET   Early adult 2.11×10-05
embryonic growth retardation Junem1(IMPC)Mbp HOM E9.5 0.00
enlarged lymph nodes Junem1(IMPC)Mbp HET Early adult 0.00
abnormal blood vessel morphology Junem1(IMPC)Mbp HOM 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
anophthalmia Junem1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Junem1(IMPC)Mbp HET E15.5 0.00
edema Junem1(IMPC)Mbp HOM E15.5 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.

Download thumbnail Download
MicroCT E9.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

60 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

20 Images

View 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
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Thymic Aplasia With Fetal Death
Stillbirth, Truncus arteriosus OMIM:274210
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... OMIM:231100
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Neonatal death, Truncus arteriosus OMIM:228940
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Lipedema
Edema OMIM:614103
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Hydranencephaly, Truncus arteriosus OMIM:601355
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Intrauterine growth retardation, Truncus arteriosus, Short stature OMIM:611867
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Short palpebral fissure, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect,... OMIM:601348
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Downslanted palpebral ... ORPHA:401935
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Adams-Oliver Syndrome 6
Ventricular septal defect, Hepatic fibrosis, Portal hypertension, Truncus arteriosus OMIM:616589
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Fadd-Related Immunodeficiency
Ventricular septal defect, Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Blepharophimosis, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Hepa... OMIM:615415
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Polyhydramnios, Oligohydramnios, ... ORPHA:3032
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Coarctation o... ORPHA:3426
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... ORPHA:79302
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Hepatom... OMIM:614876
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricular septal defect... OMIM:617478
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 8
Hyperactivity OMIM:615401
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch OMIM:617577
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... OMIM:619662
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... ORPHA:846
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Hepatic steatosis, Fulminant h... OMIM:231530
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:249670
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect OMIM:615297
Kerion Celsi
Lymphadenopathy ORPHA:499
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Telecanthus, Narrow palpebral fissure, Blepharophimosis OMIM:300073
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Upslanted palpebral fissure, Pulmonic stenosis, Vent... OMIM:609029
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Oligohydramn... OMIM:208540
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... ORPHA:1354
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus OMIM:147770
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia, Edema ORPHA:79278
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Biliary atresia, Total absence of the pericard... OMIM:600001
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... ORPHA:567983
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular sep... ORPHA:2008
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Cyanosis, Tetralogy of Fa... ORPHA:3304
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Anemia, Polycythemia, Thrombocyt... ORPHA:88673
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Polymicrogyria, Ventricular septal defect, Pachygyria, Vascular ring OMIM:603387
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Blepharop... ORPHA:261120
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... OMIM:224100
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... ORPHA:30391
Emanuel Syndrome
Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Upslanted palpebral fissure, Pulmonic... ORPHA:96170
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia OMIM:300752
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Death in childhood, Atrial septal defect OMIM:253300
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse eyebrow, Sparse eyelashes, Ventricular septal defect, Epicanthus, Downslanted palpebral fi... OMIM:616901
Grange Syndrome
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Abnormal coronary artery morphology, Te... ORPHA:980
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Downslanted palpebral fissures OMIM:619717
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Nonimmune hydrops... OMIM:266200
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Li-Campeau Syndrome
Atrial septal defect, Thick eyebrow, Ventricular septal defect, Downslanted palpebral fissures, T... OMIM:619189
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Decreased liver function, Patent ductus arteriosus OMIM:617021
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Periportal fibrosis OMIM:201475
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Cerebral edema,... OMIM:603471
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Patent ductus arteriosus, Portal hypertension, Bile duct prolife... OMIM:267010
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Edema, Hepatic failure OMIM:177000
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Elevated circulati... ORPHA:480520
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Lambert Syndrome
Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect, Branchial anomaly, Jaundice ORPHA:1296
Gillespie Syndrome
Aniridia, Truncus arteriosus OMIM:206700
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Decreased mean corpuscular volume, Microvesicular hepatic steatosis, Hep... OMIM:618278
Anencephaly 2
Anophthalmia OMIM:619452
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Waardenburg Syndrome Type 3
Acrocyanosis, Thick eyebrow, Atrial septal defect, Downslanted palpebral fissures, Telecanthus, B... ORPHA:896
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic failure, Elevated hepatic transami... ORPHA:71212
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... ORPHA:95430
8Q12 Microduplication Syndrome
Atrial septal defect, Long palpebral fissure, Ventricular septal defect, Telecanthus, Epicanthus,... ORPHA:228399
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... ORPHA:1461
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Upslanted palpebral fissure, Ventricular septal defect, Telecanthus, Epican... OMIM:618974
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin of left coronary art... ORPHA:2326
Coffin-Siris Syndrome 10
Ventricular septal defect, Epicanthus OMIM:618506
Velocardiofacial Syndrome
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Umb... OMIM:192430
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial ... OMIM:108800
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Atrial septal defect OMIM:617044
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Catel-Manzke Syndrome
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect ORPHA:1388
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... OMIM:613470
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Increased circulating lactate dehydrogenase concentration... ORPHA:26791
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poikilocytosis, ... ORPHA:288
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
X-Linked Lymphoproliferative Disease
Histiocytosis, Decreased liver function, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic f... ORPHA:2442
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Anemia, Thrombocytopenia ORPHA:101028
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, Ptosis OMIM:613458
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, E... OMIM:612946
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase concentration, ... ORPHA:521219
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Epicanthus, Transposition o... ORPHA:1913
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Short stature, Branchial fistula, Highly arched eyebrow, Ventricular septal... ORPHA:261330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palpebral fissure, Atrioventricular canal defect, Retinal coloboma, ... ORPHA:508498
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Apnea, Central Sleep
Cyanosis OMIM:207720
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Polymicrogyria ORPHA:83473
Amyloidosis, Familial Visceral
Edema, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Breath-Holding Spells
Cyanosis OMIM:607578
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal aortic morphology ORPHA:3405
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hydrocephalus, Ventricular septal defect, Downslanted palpebral fissures, Umbi... ORPHA:567
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cyanosis, Dextrocardia, Epicanthus, Hypoxemia, Abnormal pulmonary ... ORPHA:2257
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertens... OMIM:232500
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Palmoplantar cutis laxa, V... OMIM:615355
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Matthew-Wood Syndrome
Abnormal spleen morphology, Anophthalmia, Microphthalmia ORPHA:2470
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... ORPHA:731
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Arrhinencephaly, Polymicrogyria, Biliar... OMIM:156810
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aor... ORPHA:1166
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricular septal defect, Cardiome... OMIM:306955
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... OMIM:232800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Coloboma, Ventricular septal defect, Epicanthus, Patent ductus arteriosus, ... OMIM:618652
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Abnormal aor... ORPHA:2306
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Aase-Smith Syndrome I
Ventricular septal defect, Death in infancy, Ptosis OMIM:147800
Acute Liver Failure
Hepatocellular necrosis, Elevated hepatic transaminase, Hepatitis, Hepatic periportal necrosis, H... ORPHA:90062
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, C... OMIM:601005
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Short palpebral fissure, Pulmonic stenosis, Coarctation of aorta, Ventricu... ORPHA:284169
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Epicanthus, Downslanted palpebral fissures, Cutis marmorata OMIM:602501
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Diamond-Blackfan Anemia 12
Ventricular septal defect, Elevated red cell adenosine deaminase level OMIM:615550
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Highly arched eyebrow, Atrial septal defect OMIM:616898
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... ORPHA:439
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... ORPHA:231222
Surfactant Metabolism Dysfunction, Pulmonary, 1
Misalignment of the pulmonary veins, Cyanosis, Neonatal death, Death in infancy OMIM:265120
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated gamma-glutamyltransferase le... OMIM:618329
Hardikar Syndrome
Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... OMIM:301068
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Phaver Syndrome
Myelomeningocele, Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypo... ORPHA:2876
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Intrahepat... OMIM:605479
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Abnormal... ORPHA:290
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Pate... OMIM:612561
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Polyhydramnios, Bile duct... OMIM:261515
Noonan Syndrome 9
Sparse eyebrow, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Downslanted p... OMIM:616559
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Right ventricular hypertrophy, Ven... OMIM:613404
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Atrioventricular canal def... OMIM:619534
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Upslanted palpebral fissure, Pulmonic stenosis, Vent... OMIM:248950
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Alg3-Cdg
Decreased liver function, Abnormal enzyme/coenzyme activity, Coarctation of the descending aortic... ORPHA:79321
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Cirrhosis, ... OMIM:606003
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... OMIM:220210
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Atrial septal defect, Intrahepatic biliary atres... OMIM:208085
Chromosome 14Q11-Q22 Deletion Syndrome
Short palpebral fissure, Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Patent ... OMIM:613457
Methimazole Embryofetopathy
Ventricular septal defect, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Transposition of the grea... ORPHA:1727
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Congenital Toxoplasmosis
Lymphadenopathy, Microphthalmia ORPHA:858
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic left heart, Atrioventricular... ORPHA:392
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Atrial septal defect OMIM:263630
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Abnormality of neuronal migration, Hypoplastic left heart ORPHA:2772
Multisystemic Smooth Muscle Dysfunction Syndrome
Brachiocephalic artery aneurysm, Atrial septal defect, Thoracic aortic aneurysm, Aortic arch aneu... OMIM:613834
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Epicanthus OMIM:314320
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Coloboma, Ventricular septal defect, Downslanted pal... ORPHA:329224
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Highly arched eyebrow ORPHA:94066
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Oligohydramnios, Cholestasis, Elevated hepatic transaminase,... OMIM:613658
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Ptosis ORPHA:98913
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abno... ORPHA:79303
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... OMIM:618534
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Lissencephaly, Patent d... OMIM:618142
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Epicanthus ORPHA:3369
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Kapur-Toriello Syndrome
Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Pachygyria ORPHA:2328
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Abnormal aortic valve cusp morphology, Left ventricular hypertrophy, Abnor... ORPHA:99094
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Atrial septal defect, Arrhinencephaly, Abnormal cortical gyration, Truncus arteriosus ORPHA:2538
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619525
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Stroke, Atrial septal defect ORPHA:49827
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphadenopathy, Generalize... OMIM:615559
Lymphedema-Distichiasis Syndrome
Conjunctivitis, Tetralogy of Fallot, Ventricular septal defect, Distichiasis, Patent ductus arter... OMIM:153400
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Epicanthus, Patent ductus arteriosus, Atrial septal defect OMIM:608406
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot OMIM:618624
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Spinal dysraphism, Abnormality of the pulmonary a... ORPHA:1926
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Thiamine-Responsive Megaloblastic Anemia Syndrome
Stroke, Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Atrial septal defect, Cirr... OMIM:614576
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Secundum atrial septal defect, Sparse eyebrow, Upslanted palpebral fissure,... OMIM:600987
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Cholestasis, Elevated hepatic transaminase, Polyhydr... OMIM:613610
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... ORPHA:335
Transketolase Deficiency
Hepatomegaly, Atrial septal defect, Abnormal coronary artery course, Ventricular septal defect, P... ORPHA:488618
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:613870
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy, Ptosis ORPHA:255241
Joubert Syndrome 18
Ventricular septal defect OMIM:614815
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... OMIM:620067
Atrioventricular Septal Defect 3
Cyanosis, Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal de... OMIM:600309
Warsaw Breakage Syndrome
Cutis marmorata, Tetralogy of Fallot, Optic disc coloboma, Ventricular septal defect, Epicanthus OMIM:613398
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Gray matter heterotopia, Vascular dilatation OMIM:219730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Blepharitis, Lacrimal duct atresia, Ankyloblepharon, Sparse eyelashes, Ventricular septal defect,... OMIM:106260
Suleiman-El-Hattab Syndrome
Thick eyebrow, Atrial septal defect, Ventricular septal defect, Downslanted palpebral fissures, E... OMIM:618950
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Polymicrogyria, Ventricular septal defect, Patent ductus arteriosus, Paten... ORPHA:500159
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Downslanted palpebral fissures, Eyelid coloboma, Exencephaly, Ptosis ORPHA:2211
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Ventricular septal defect, P... OMIM:606519
Porphyria Cutanea Tarda
Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzyme activity, Chronic hepatitis, Hepat... ORPHA:101330
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... ORPHA:210122
Asbestos Intoxication
Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale, Cyanosis, Hypoxemia ORPHA:2302
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Spinal arteriovenous malformation, Dilatation of celiac artery, Cyanosis, Ar... OMIM:610655
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormally large globe, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Aortic valve stenosis, Dysplastic ... ORPHA:1600
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Cyanosis, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Upper eyelid coloboma, Limbal dermoid ORPHA:398156
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... OMIM:208500
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Upslanted palpebral fissure, Ventricular septal defect, Epicanthus... OMIM:619909
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Pachygyria, Patent ductus arteriosus ORPHA:452
Catel-Manzke Syndrome
Coarctation of aorta, Ventricular septal defect, Dextrocardia, Umbilical hernia, Overriding aorta OMIM:616145
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Mild postnatal growth retardation, Chylous ascites, Palpebral edema, N... OMIM:265300
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Nephroblastoma
Lymphadenopathy, Aniridia ORPHA:654
Tatton-Brown-Rahman Syndrome
Thick eyebrow, Atrial septal defect, Ventricular septal defect, Epicanthus, Horizontal eyebrow, N... OMIM:615879
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Long palpebral fissure, Ventricular septal defect, Patent ductus arteriosu... OMIM:617751
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic hy... OMIM:619991
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... ORPHA:363705
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Patent ductus arteriosus, Short palpebral fissure, Upslanted palpebral... OMIM:613680
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Epicanthus, Downslanted palpebral fissures, Synop... ORPHA:3306
Digeorge Syndrome
Cholelithiasis, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Umbilic... OMIM:188400
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Sparse eyebrow, Pulmonic stenosis, Left ventricular hypert... OMIM:616564
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Trisomy 1Q
Anophthalmia ORPHA:261344
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral fissure, Atrial septal d... OMIM:300963
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Normocytic anemia, C... OMIM:611881
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Burn-Mckeown Syndrome
Atrial septal defect, Short palpebral fissure, Ventricular septal defect, Lower eyelid coloboma, ... OMIM:608572
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Peritoneal abscess, Polyhydramnios, Hepatitis, Autoimmune hemolytic ane... ORPHA:436252
Abcd Syndrome
White eyebrow, White eyelashes, Neonatal death OMIM:600501
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Atrial septal defect, Atrioventricular canal defect, Upslanted palpebral fissure, Tetralogy of Fa... OMIM:600123
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Short palpebral fissure, Upslanted palpebral fissure, Coarctation of aorta,... OMIM:617159
Hsd10 Disease, Infantile Type
Cyanosis, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Sparse eyebrow, Atrioventricular canal defect, Pulmonic st... OMIM:605275
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Hypoplastic left h... ORPHA:7
Noonan Syndrome 4
Atrial septal defect, Sparse eyebrow, Bruising susceptibility, Pulmonic stenosis, Ventricular sep... OMIM:610733
Rare Circulatory System Disease
Arterial calcification, Cyanosis, Abnormal systemic arterial morphology, Arterial tortuosity, Vas... ORPHA:98028
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Hepatopulmonary fusion, Tetralogy... OMIM:618280
Roifman Syndrome
Long palpebral fissure, Prominent eyelashes, Ventricular septal defect, Downslanted palpebral fis... OMIM:616651