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Gene: Jun MGI:96646

Gene Summary

Name:

jun proto-oncogene

Synonyms:

Junc, c-jun

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal placenta morphology	Jun^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Jun^em1(IMPC)Mbp	HET	E15.5	0.00
anophthalmia	Jun^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal blood vessel morphology	Jun^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal blood vessel morphology	Jun^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Jun^em1(IMPC)Mbp	HET	E15.5	0.00
hyperactivity	Jun^em1(IMPC)Mbp	HET	Early adult	9.20×10^-05
abnormal neural tube morphology	Jun^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal lymph node morphology	Jun^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Jun^em1(IMPC)Mbp	HOM	E9.5	0.00
edema	Jun^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Jun^em1(IMPC)Mbp	HOM	Early adult	0.00
hemorrhage	Jun^em1(IMPC)Mbp	HOM	E15.5	0.00
increased prepulse inhibition	Jun^em1(IMPC)Mbp	HET	Early adult	2.83×10^-05
enlarged lymph nodes	Jun^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Jun^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Jun^em1(IMPC)Mbp	HET	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Gross Morphology Embryo E14.5-E15.5

Images

17 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Gross Morphology Embryo E9.5

Images

15 Images

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Human diseases caused by Jun mutations

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

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

Human diseases associated with Jun (0 diseases)
Human diseases predicted to be associated with Jun (1133 diseases)

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	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
Burn-Mckeown Syndrome	Atrial septal defect, Short palpebral fissure, Lower eyelid coloboma, Ventricular septal defect, ...	OMIM:608572
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Polymicrogyria, Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent...	OMIM:618494
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Ptosis, Coarctation of aorta, Tetralogy of Fallot, Epicanthus, Patent du...	OMIM:617159
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Noonan Syndrome 4	Bilateral ptosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral f...	OMIM:610733
Schnitzler Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37748
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Telecanthus, Patent foramen ovale, Downslanted palpebral fissures, Tetra...	OMIM:612582
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol...	ORPHA:477817
Atelis Syndrome 1	Downslanted palpebral fissures, Atrial septal defect, Ventricular septal defect	OMIM:620184
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Pheochromocytoma, Nodular goiter, Primary hyperparathyroidism	ORPHA:1332
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Macro...	OMIM:615512
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Iris coloboma, Death in infan...	ORPHA:7
Lambotte Syndrome	Ventricular septal defect, Telecanthus	OMIM:245552
Roifman Syndrome	Noncompaction cardiomyopathy, Long palpebral fissure, Downslanted palpebral fissures, Prominent e...	OMIM:616651
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Intrahepatic biliary atresia	OMIM:614815
King-Denborough Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Ventricular septal defect, Ptosis	OMIM:619542
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia	OMIM:619769
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Partial anomalous pulmonary venous return, Broad eyebrow, Coronary artery f...	OMIM:619343
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Synophrys, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Epicanthus, Patent ductus arter...	OMIM:617061
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement...	OMIM:619472
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Patent fo...	OMIM:265380
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Tetrasomy 5P	Cyanosis, Upslanted palpebral fissure, Epicanthus	ORPHA:3309
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Hepatic fibrosis, Ventricular septal defect, Hepatic failure	OMIM:615630
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis	ORPHA:330012
Rere-Related Neurodevelopmental Syndrome	Broad eyebrow, Ptosis, Abnormal heart morphology, Chorioretinal coloboma, Epicanthus, Ventricular...	ORPHA:494344
Periventricular Nodular Heterotopia 7	Polymicrogyria, Ventricular septal defect, Gray matter heterotopia, Periventricular nodular heter...	OMIM:617201
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Dilatation of celiac artery, Arteriovenous fistul...	OMIM:187300
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect, Pachygyria	ORPHA:513456
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Vascular dilatation, Gray matter heterotopia	OMIM:219730
Short Stature And Facioauriculothoracic Malformations	Ptosis, Ventricular septal defect	OMIM:609654
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Leishmaniasis	Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:507
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, Horizontal eyebrow, Ptosis, Abnormal heart morphology, Epicanthus, Ventricu...	ORPHA:369891
Radio-Tartaglia Syndrome	Highly arched eyebrow, Long eyebrows, Long eyelashes, Synophrys, Long palpebral fissure, Downslan...	OMIM:619312
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Upslanted palpebral fissure, Downslanted palpebral fissures, Epicanthus, Bi...	OMIM:616652
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Char Syndrome	Ptosis, Downslanted palpebral fissures, Ventricular septal defect, Patent ductus arteriosus	ORPHA:46627
Coffin-Siris Syndrome 7	Patent foramen ovale, Downslanted palpebral fissures, Thick eyebrow, Epicanthus, Bicuspid aortic ...	OMIM:618027
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Pulmonary Arteriovenous Malformation	Ischemic stroke, Bacterial endocarditis, Transient ischemic attack, Hypoxemia, Pulmonary arteriov...	ORPHA:2038
Immunodeficiency 54	Lymphadenopathy, Splenomegaly	OMIM:609981
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Neonatal death, Cyanosis, Death in infancy	OMIM:610921
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Joubert Syndrome 21	Splenomegaly, Dysphagia, Anophthalmia	OMIM:615636
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Downslanted palpebral fissures, Ventricular septal defect	ORPHA:2256
Charge Syndrome	Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Pulmonic stenosis, Umbilic...	OMIM:214800
Desbuquois Syndrome	Abnormal eyelash morphology, Ventricular septal defect	ORPHA:1425
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice...	ORPHA:100086
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Simplified gyral pattern, Right ventricular hypertrophy, Atrial septal defe...	OMIM:614261
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Downslanted palpebral fissures, At...	OMIM:617452
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Stroke, Transient ischemic attack, Anomalous origin of the left common carotid artery f...	ORPHA:99104
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Splenomegaly	OMIM:607594
Acute Interstitial Pneumonia	Pericardial effusion, Hypoxemia, Cyanosis	ORPHA:79126
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Ventricular septal defect, Iris coloboma	ORPHA:2143
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short palpebral fissure, Telecanthus, Highly arched eyebrow, Ptosis, Thick eyebrow, Epicanthus, A...	OMIM:617360
Teebi Hypertelorism Syndrome 1	Bilateral ptosis, Aortic root aneurysm, Highly arched eyebrow, Downslanted palpebral fissures, At...	OMIM:145420
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Umbilical hernia, Patent ductus arteriosus, Lissencephaly, Ventricul...	OMIM:612938
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Highly arched eyebrow, Laterally extended eyebrow, Long eyelashes, Pulmonic stenos...	OMIM:610759
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ...	OMIM:618870
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Downslanted palpebral fissures, Optic disc coloboma, Patent ductus arteriosus, Ventricular septal...	ORPHA:52055
Myopathy With Extrapyramidal Signs	Perisylvian polymicrogyria, Ventricular septal defect, Elevated circulating hepatic transaminase ...	OMIM:615673
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Pulmonary artery atresia, Tetral...	ORPHA:1908
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:301039
3P25.3 Microdeletion Syndrome	Coronary artery atherosclerosis, Pulmonic stenosis, Downslanted palpebral fissures, Epicanthus, P...	ORPHA:435638
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Patent ductus arteriosus	OMIM:218350
Tyshchenko Syndrome	Pulmonic stenosis, Ptosis, Atrial septal defect, Ventricular septal defect	OMIM:615102
Cat Eye Syndrome	Tricuspid atresia, Iris coloboma, Total anomalous pulmonary venous return, Pulmonic stenosis, Dow...	OMIM:115470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Splenomegaly	OMIM:619375
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Atrial septal defect, Dilation of Virchow-Robin spaces, Hy...	ORPHA:261311
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ptosis, Lacrimal duct stenosis, Epicanthus, Patent ductus arteriosus, Atrial septal defect, Ventr...	ORPHA:457193
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Primum atrial septal defect, Right ventricular hypertrophy...	ORPHA:1329
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bilateral ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Abnormal heart morpholog...	ORPHA:404440
Insulin-Like Growth Factor I, Resistance To	Highly arched eyebrow, Patent foramen ovale, Synophrys, Reduced subcutaneous adipose tissue, Thic...	OMIM:270450
Braddock-Carey Syndrome 1	Downslanted palpebral fissures, Ventricular septal defect, Aortic valve prolapse, Telecanthus	OMIM:619980
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
19P13.3 Microduplication Syndrome	Telecanthus, Downslanted palpebral fissures, Epicanthus, Ventricular septal defect, Upslanted pal...	ORPHA:447980
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Splenomegaly	OMIM:614470
Tarp Syndrome	Short palpebral fissure, Tetralogy of Fallot, Thick eyebrow, Persistent left superior vena cava, ...	ORPHA:2886
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Upslanted palpebral f...	ORPHA:75389
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Prune Belly Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	ORPHA:2970
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Downslanted palpebral fissures, At...	ORPHA:505237
Holoprosencephaly	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2162
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Ventricular septal defect	OMIM:616920
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Aicardi-Goutieres Syndrome 1	Purpura, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Erythema	OMIM:225750
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Acrocyanosis	ORPHA:1867
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Lymphadenopathy, Asplenia	OMIM:614034
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Hypertrophic cardiomyopathy,...	OMIM:617506
Distal Triplication 15Q	Atrial septal defect, Abnormal heart morphology, Hypoplastic aortic arch, Patent ductus arteriosus	ORPHA:314588
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Synophrys, Long eyelashes, Thick eyebrow, Ventricular septal defect	OMIM:614961
Primary Myelofibrosis	Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Abnormal heart morphology, Ventricular septal defect, Umbilical hernia	ORPHA:254534
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormality of the orbital region, Pterygium, Coarctation of aorta, Mitral valve prolapse, Bicusp...	ORPHA:371428
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Ptosis, Cy...	OMIM:252010
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Encephalocraniocutaneous Lipomatosis	Subcutaneous lipoma, Eyelid coloboma, Limbal dermoid, Atrial septal defect, Ventricular septal de...	OMIM:613001
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Mandibulofacial Dysostosis, Guion-Almeida Type	Telecanthus, Downslanted palpebral fissures, Epicanthus, Atrial septal defect, Ventricular septal...	OMIM:610536
Meckel Syndrome	Microphthalmia, Anophthalmia, Accessory spleen, Asplenia, Aplasia/Hypoplasia of the iris	ORPHA:564
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis, Tetralogy of Fallot, Patent ductus arteriosus, V...	OMIM:153400
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, P...	OMIM:609942
Hyperimmunoglobulinemia D With Periodic Fever	Purpura, Vasculitis, Urticaria, Acrocyanosis, Erythema	ORPHA:343
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Purpura, Vasculitis, Transient ischemic attack, Hypertrophic cardiomyopathy, Abnorma...	ORPHA:183
Woods Syndrome	Ventricular septal defect	OMIM:615236
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ptosis, Epicanthus, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:220500
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Broad eyebrow, Patent foramen ovale, Pulmonary artery atresia, Syn...	OMIM:620113
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Pericardial effusion, Persistent left superior vena ...	OMIM:618775
Rubinstein-Taybi Syndrome 1	Hepatic hemangioma, Perimembranous ventricular septal defect, Spina bifida occulta, Patent forame...	OMIM:180849
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Foam cells	ORPHA:747
Orotic Aciduria	Atrial septal defect, Ventricular septal defect, Reduced orotidine 5-prime phosphate decarboxylas...	OMIM:258900
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Patent ductus arteriosus, Cryp...	OMIM:249000
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Roifman Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Kagami-Ogata Syndrome	Short palpebral fissure, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defect, Ventr...	OMIM:608149
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Hypoxemia, Cyanosis, Abnormal pulmonary vein morphology	ORPHA:199241
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Joubert Syndrome 14	Highly arched eyebrow, Coloboma, Ptosis, Downslanted palpebral fissures, Intracranial hemorrhage,...	OMIM:614424
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida	ORPHA:2345
Pentalogy Of Cantrell	Anencephaly, Encephalocele, Abnormal pericardium morphology, Tetralogy of Fallot, Absent gallblad...	ORPHA:1335
Fryns Syndrome	Abnormal aortic morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal cardia...	ORPHA:2059
3Mc Syndrome 1	Telecanthus, Highly arched eyebrow, Synophrys, Conjunctival telangiectasia, Ptosis, Downslanted p...	OMIM:257920
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis	ORPHA:2032
Beck-Fahrner Syndrome	Cardiomegaly, Ptosis, Lacrimal duct stenosis, Ventricular septal defect	OMIM:618798
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Absent eyelashes, Lacrimal duct atresia, Ectodermal dysplasia, Sparse eyelashes, Conjunctivitis, ...	OMIM:106260
Congenital Myasthenic Syndrome	Ptosis, Cyanosis	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Ptosis, Cyanosis	ORPHA:98914
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cerebral arterioveno...	OMIM:600376
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Ventricular septal defect, Epicanthus, Patent ductus arteriosus	ORPHA:2519
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Chromosome 9P Deletion Syndrome	Narrow palpebral fissure, Perimembranous ventricular septal defect, Highly arched eyebrow, Epican...	OMIM:158170
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Noonan Syndrome 2	Abnormal coronary artery origin, Atrioventricular canal defect, Telecanthus, Palmoplantar cutis l...	OMIM:605275
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Thin eyebrow	OMIM:617635
De Barsy Syndrome	Hypoplastic aortic arch, Prominent veins on trunk, Umbilical hernia, Patent ductus arteriosus, Pe...	ORPHA:2962
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Codas Syndrome	Ptosis, Ventricular septal defect, Epicanthus	ORPHA:1458
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Acrocyanosis	ORPHA:49566
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Pulmonary artery atresi...	ORPHA:141127
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary artery atresia, ...	OMIM:301056
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Ventricular septal defect	OMIM:601357
Kapur-Toriello Syndrome	Polymicrogyria, Pachygyria, Patent ductus arteriosus, Atrial septal defect, Ventricular septal de...	OMIM:244300
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:3226
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Almond-shaped palpebral fissure, Sparse lateral eyebrow, Epiblepharon...	OMIM:619103
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A...	OMIM:600460
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia	OMIM:603909
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Kury-Isidor Syndrome	Ptosis, Downslanted palpebral fissures, Ventricular septal defect	OMIM:619762
Lissencephaly 9 With Complex Brainstem Malformation	Lissencephaly, Ventricular septal defect, Pachygyria	OMIM:618325
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve...	ORPHA:83617
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Zellweger Syndrome	Jaundice, Death in infancy, Epicanthus, Ventricular septal defect, Upslanted palpebral fissure	ORPHA:912
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Downslanted palpebral fissures, Ventricular septal defect, Epicanthus	ORPHA:1770
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly	OMIM:618935
Necrotizing Enterocolitis	Abnormal heart morphology, Cyanosis	ORPHA:391673
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Maternal Phenylketonuria	Bilateral ptosis, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Epicanthu...	ORPHA:2209
Chromosome 18Q Deletion Syndrome	Short palpebral fissure, Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence of...	OMIM:601808
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia	OMIM:601859
Distal Deletion 15Q	Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left heart, Double outlet ...	ORPHA:1596
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Cardiomyopathy	ORPHA:159
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Frontal polymicrogyria, Gray matter heterotopia, Pachygyria, Patent duct...	OMIM:620024
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Vascul...	ORPHA:353281
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Simplified gyral pattern, Pulmonary artery hypop...	OMIM:616777
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Aggressive Systemic Mastocytosis	Anorexia, Hypersplenism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:98850
Immunodeficiency 10	Lymphadenopathy, Splenomegaly, Hypoplasia of the iris	OMIM:612783
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatome...	ORPHA:26793
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Splenomegaly, Hypoplasia of the iris	ORPHA:169090
Gamma-Heavy Chain Disease	Lymphadenopathy, Splenomegaly, Dysphagia	ORPHA:100026
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Encephalocele, Polymicrogyria, Coarctation of aorta, Atrial sept...	OMIM:264480
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr...	OMIM:121050
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Myasthenic Syndrome, Congenital, 21, Presynaptic	Ptosis, Cyanosis	OMIM:617239
Mosaic Variegated Aneuploidy Syndrome 2	Short palpebral fissure, Blepharophimosis, Downslanted palpebral fissures, Coarctation of aorta, ...	OMIM:614114
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short palpebral fissure, Ventricular septal defect, Upslanted palpebral fissure, Telecanthus	OMIM:620073
Carpenter Syndrome 1	Transposition of the great arteries, Telecanthus, Pulmonic stenosis, Tetralogy of Fallot, Epicant...	OMIM:201000
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Cyanosis, Right atrial enlargement, Left ventricular hypertrophy, Right ...	ORPHA:99106
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Downslanted palpebral fissures, Optic disc coloboma, Patent ductus arteriosus, Ventricular septal...	OMIM:300472
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Bivent...	OMIM:261740
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch	OMIM:230900
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Abnormal aortic valve morphology, Loss of eyelashes, Premature s...	ORPHA:740
Sézary Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:3162
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arte...	OMIM:612562
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Ventricular septal defect	ORPHA:85194
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Short palpebral fissure, Aortic root aneurysm, Ventricular hypertrophy, Retinal coloboma, Pulmoni...	OMIM:620654
Meckel Syndrome 14	Cyanosis, Single ventricle	OMIM:619879
Proboscis Lateralis	Cyclopia, Iris coloboma, Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of th...	ORPHA:141099
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Aortic root aneurysm, Coarctation of aorta, Cutis marmorata, Atria...	OMIM:617602
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, Patent ductus arteriosus, Atrial septal defect, Ventricular septal d...	OMIM:300963
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ...	OMIM:615067
Niemann-Pick Disease, Type A	Lymphadenopathy, Splenomegaly	OMIM:257200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Griscelli Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:381
Sotos Syndrome	Muscular ventricular septal defect, Prolonged neonatal jaundice, Downslanted palpebral fissures, ...	OMIM:117550
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyelashes, Abnormal vena cava morphology, Absent eyebrow, Downslanted palpebral fissures, ...	ORPHA:166035
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:17
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Ogden Syndrome	Pulmonary artery stenosis, Downslanted palpebral fissures, Ventricular septal defect, Aplasia/Hyp...	ORPHA:276432
Trichothiodystrophy 4, Nonphotosensitive	Sparse eyelashes, Ventricular septal defect, Epicanthus, Keratoconjunctivitis sicca	OMIM:234050
Craniofacioskeletal Syndrome	Interrupted aortic arch, Patent ductus arteriosus, Absent gallbladder, Atrial septal defect, Vent...	OMIM:300712
Esophageal Atresia	Cyanosis, Coloboma, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Lymphoproliferative Syndrome, X-Linked, 1	Lymphadenopathy, Splenomegaly	OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Thakker-Donnai Syndrome	Transposition of the great arteries, Long palpebral fissure, Tetralogy of Fallot, Ventricular sep...	ORPHA:1780
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Lymphadenopathy	OMIM:619644
Fucosidosis	Cardiomegaly, Vascular skin abnormality, Acrocyanosis	ORPHA:349
Alagille Syndrome	Hepatomegaly, Spina bifida occulta, Cholestasis, Reduced number of intrahepatic bile ducts, Atria...	ORPHA:52
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Telecanthus, Hypertrophic cardiomyopathy	OMIM:616897
Diaphanospondylodysostosis	Oligohydramnios, Abnormal liver lobulation, Increased nuchal translucency	OMIM:608022
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao...	OMIM:610168
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Death in infancy, Downslanted palpebral fissures, Pulmonary lymphang...	OMIM:235255
Distal Duplication 5Q	Dextrocardia, Downslanted palpebral fissures, Chorioretinal coloboma, Epicanthus, Ventricular sep...	ORPHA:96097
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Down Syndrome	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Patent foramen ovale, E...	OMIM:190685
Feingold Syndrome Type 1	Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Multiple muscular ventricular sep...	ORPHA:391641
Sepsis In Premature Infants	Petechiae, Purpura, Jaundice, Cyanosis	ORPHA:90051
American Trypanosomiasis	Lymphadenopathy, Splenomegaly	ORPHA:3386
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Legionnaires Disease	Anorexia, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:549
Lateral Meningocele Syndrome	Telecanthus, Aortic aneurysm, Ptosis, Downslanted palpebral fissures, Patent ductus arteriosus, B...	OMIM:130720
Koolen-De Vries Syndrome	Aortic root aneurysm, Pulmonic stenosis, Ptosis, Epicanthus, Patent ductus arteriosus, Bicuspid a...	OMIM:610443
Fanconi Anemia, Complementation Group B	Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus	OMIM:300514
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Basel-Vanagaite-Smirin-Yosef Syndrome	Ptosis, Downslanted palpebral fissures, Epicanthus, Atrial septal defect, Ventricular septal defect	OMIM:616449
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Multiple pterygia, Ptosis, Downslanted palpebral fissures, Antecubital ptery...	OMIM:178110
Aregenerative Anemia	Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Charge Syndrome	Microphthalmia, Anophthalmia, Compulsive behaviors, Dysphagia, Attention deficit hyperactivity di...	ORPHA:138
Eisenmenger Syndrome	Atrioventricular canal defect, Cyanosis, Bacterial endocarditis, Stroke, Aortopulmonary window, H...	ORPHA:97214
Filippi Syndrome	Downslanted palpebral fissures, Ventricular septal defect	ORPHA:3255
Cooper-Jabs Syndrome	Ventricular septal defect, Umbilical hernia	ORPHA:1488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal subclavian artery morphology, Patent foramen ovale, Pulmonic stenosis, Aortic valve sten...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal subclavian artery morphology, Patent foramen ovale, Pulmonic stenosis, Aortic valve sten...	ORPHA:353277
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Pelger-Huet Anomaly	Ventricular septal defect, Umbilical hernia	OMIM:169400
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Craniofacial Microsomia 1	Occipital encephalocele, Branchial anomaly, Right aortic arch, Coarctation of aorta, Tetralogy of...	OMIM:164210
Purine Nucleoside Phosphorylase Deficiency	Lymph node hypoplasia, Splenomegaly	OMIM:613179
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Epicanthus, Synophrys	ORPHA:254346
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Patent foramen ovale, Long palpebral fissure, Ptosis, Ascending aortic diss...	OMIM:615582
Chops Syndrome	Patent foramen ovale, Anomalous pulmonary venous return, Long eyelashes, Synophrys, Thick eyebrow...	OMIM:616368
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Mosaic Trisomy 9	Hydrops fetalis, Polyhydramnios, Abnormal liver lobulation, Asplenia, Patent ductus arteriosus, C...	ORPHA:99776
Immunodeficiency 97 With Autoinflammation	Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:619802
Cardiofacioneurodevelopmental Syndrome	Pulmonic stenosis, Upslanted palpebral fissure, Atrioventricular canal defect, Ventricular septal...	OMIM:619123
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal thymus morphology, Anophthalmia	OMIM:219000
Mosaic Trisomy 16	Large placenta, Single coronary artery origin, Coarctation of aorta, Abnormal heart morphology, P...	ORPHA:1708
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Synophrys, Ptosis, Downslanted palpebral fissures, Thick eyeb...	OMIM:609460
Costello Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis, Epicanthus, Mitral valve prolapse, Ventricular se...	ORPHA:3071
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Abnormality of the spleen	ORPHA:79456
Myasthenia Gravis	Ptosis, Acrocyanosis	ORPHA:589
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Splenomegaly	OMIM:616100
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Telecanthus, Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary stenosis,...	OMIM:618164
Acute Monoblastic/Monocytic Leukemia	Anorexia, Cervical lymphadenopathy	ORPHA:514
Multiple Mitochondrial Dysfunctions Syndrome 7	Cyanosis, Partial atrioventricular canal defect	OMIM:620423
Peroxisome Biogenesis Disorder 5A (Zellweger)	Jaundice, Hepatomegaly, Polymicrogyria, Intrahepatic biliary dysgenesis, Cholestasis, Elevated ci...	OMIM:614866
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype...	OMIM:615474
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Phelan-Mcdermid Syndrome	Palpebral edema, Long eyelashes, Ptosis, Thick eyebrow, Epicanthus, Patent ductus arteriosus, Ven...	OMIM:606232
Lateral Meningocele Syndrome	Ptosis, Downslanted palpebral fissures, Epicanthus, Ventricular septal defect, Iris coloboma	ORPHA:2789
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Ventricular septal defect	OMIM:618021
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Intracranial hemorrhage, Patent ductus arteriosus, Absent gallbladder, A...	ORPHA:163979
Adams-Oliver Syndrome 1	Encephalocele, Polymicrogyria, Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosi...	OMIM:100300
Omenn Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:39041
Castleman Disease	Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:160
Acute Promyelocytic Leukemia	Anorexia, Addictive alcohol use, Lymphadenopathy	ORPHA:520
Atrial Septal Defect, Ostium Secundum Type	Stroke, Transient ischemic attack, Right atrial enlargement, Abnormal mitral valve morphology, Ri...	ORPHA:99103
Kaufman Oculocerebrofacial Syndrome	Telecanthus, Ptosis, Sparse eyebrow, Coarctation of aorta, Epicanthus, Atrial septal defect, Vent...	OMIM:244450
Chromosome 1Q41-Q42 Deletion Syndrome	Downslanted palpebral fissures, Ventricular septal defect, Upslanted palpebral fissure, Sparse ey...	OMIM:612530
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Downslanted palpebral fissures, Abnormal heart morphology, Bicuspid aortic ...	ORPHA:457279
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Histiocytoid Cardiomyopathy	Cardiomegaly, Stroke-like episode, Ventricular septal defect, Cyanosis	ORPHA:137675
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Coloboma, Synophrys, Ptosis, Downslanted palpebral fissures, Epicanthus,...	ORPHA:251014
Choanal Atresia	Cyanosis	ORPHA:137914
Alagille Syndrome 1	Cirrhosis, Elevated circulating hepatic transaminase concentration, Stroke, Hepatocellular carcin...	OMIM:118450
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib...	OMIM:620519
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Aortic root aneurysm, Aortopulmonary window, Pulmonary artery hypoplasia, Aortopulm...	OMIM:620025
Cinca Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:1451
Jacobsen Syndrome	Iris coloboma, Telecanthus, Abnormal eyelash morphology, Ptosis, Chorioretinal coloboma, Epicanth...	OMIM:147791
Robinow Syndrome, Autosomal Dominant 3	Telecanthus, Patent foramen ovale, Pulmonary artery atresia, Long eyelashes, Epicanthus, Patent d...	OMIM:616894
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85450
Cohen Syndrome	Abnormal eyelid morphology, Abnormal eyelash morphology, Long eyelashes, Downslanted palpebral fi...	ORPHA:193
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Pleural lymphang...	OMIM:235510
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology	ORPHA:250989
C Syndrome	Ventricular septal defect, Upslanted palpebral fissure, Epicanthus, Patent ductus arteriosus	OMIM:211750
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Downslanted palpebral fissures, Ventricular septal defect	OMIM:617022
Peroxisome Biogenesis Disorder 1A (Zellweger)	Death in childhood, Prolonged neonatal jaundice, Epicanthus, Patent ductus arteriosus, Ventricula...	OMIM:214100
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	OMIM:301078
Kleefstra Syndrome	Highly arched eyebrow, Synophrys, Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of F...	ORPHA:261494
Recombinant 8 Syndrome	Pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V...	ORPHA:96167
Felty Syndrome	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:47612
Classical Ehlers-Danlos Syndrome	Tricuspid valve prolapse, Blepharochalasis, Aortic root aneurysm, Arteriovenous fistula, Acrocyan...	ORPHA:287
19Q13.11 Microdeletion Syndrome	Sparse lateral eyebrow, Ventricular septal defect, Sparse or absent eyelashes	ORPHA:217346
Lymphoproliferative Syndrome 1	Lymphadenopathy, Splenomegaly	OMIM:613011
Chime Syndrome	Pulmonary valve atresia, Transposition of the great arteries, Retinal coloboma, Ptosis, Tetralogy...	ORPHA:3474
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop...	OMIM:618748
3Q29 Microduplication Syndrome	Downslanted palpebral fissures, Ventricular septal defect, Aniridia, Iris coloboma	ORPHA:251038
X-Linked Intellectual Disability, Nascimento Type	Abnormal vena cava morphology, Patent foramen ovale, Upslanted palpebral fissure, Synophrys, Mitr...	ORPHA:163956
Trichohepatoenteric Syndrome 1	Large placenta, Jaundice, Cirrhosis, Hepatomegaly, Cholestasis, Pulmonic stenosis, Tetralogy of F...	OMIM:222470
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Pulmonary lymphangiectasia, Ventri...	ORPHA:1655
Aicardi-Goutières Syndrome	Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Hypertrophic cardiomyopathy, Pt...	ORPHA:51
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Splenomegaly	ORPHA:36412
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Pulmonic stenosis, Downslanted palpebral fissures, Facial telangiectasia, M...	OMIM:602782
Autosomal Recessive Robinow Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Death in infancy, Long eyelashes...	ORPHA:1507
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Hypoxemia, Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion	OMIM:610978
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect, Ptosis	OMIM:309520
Short Stature-Micrognathia Syndrome	Downslanted palpebral fissures, Ventricular septal defect	OMIM:617164
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Mitral atresia, Long eyelashes, Pulmonic stenosis, Ptosis, Thick eyebro...	OMIM:614609
X Small Rings	Aortic root aneurysm, Long palpebral fissure, Mitral stenosis, Epicanthus, Bicuspid aortic valve,...	ORPHA:96201
Mosaic Trisomy 1	Polymicrogyria, Pulmonary artery atresia, Coarctation of aorta, Hepatic agenesis, Ventricular sep...	ORPHA:1692
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Abnorm...	ORPHA:84064
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Ascending tubular aorta aneurysm, Coloboma, Shallow orbits, Long p...	ORPHA:453499
Orofaciodigital Syndrome V	Downslanted palpebral fissures, Unilateral ptosis, Tetralogy of Fallot, Optic disc coloboma, Vent...	OMIM:174300
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Coronary artery fistula, Synophrys, Downslanted palpebral fissures, Ventricular sep...	OMIM:614294
Mckusick-Kaufman Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H...	ORPHA:2473
Unilateral Polymicrogyria	Stroke, Abnormal heart morphology, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Tafro Syndrome	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	ORPHA:457077
Short-Rib Thoracic Dysplasia 12	Patent foramen ovale, Neonatal death, Epicanthus, Patent ductus arteriosus, Ventricular septal de...	OMIM:269860
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Downslanted palpebral fissures, Ventricular septal defect, Sparse eyebrow	OMIM:250410
Adult-Onset Still Disease	Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:829
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect, Umbilical hernia	ORPHA:96129
Feingold Syndrome 1	Short palpebral fissure, Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Epicanth...	OMIM:164280
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Cyanosis, Death in infancy	OMIM:618426
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Brachytelephalangic Chondrodysplasia Punctata	Abnormal circulating enzyme concentration or activity, Pulmonary artery stenosis, Patent ductus a...	ORPHA:79345
Developmental Delay With Or Without Dysmorphic Facies And Autism	Highly arched eyebrow, Patent foramen ovale, Coarctation of aorta, Lacrimal duct aplasia, Patent ...	OMIM:618454
Fanconi Anemia, Complementation Group I	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:609053
Chromosome 14Q11-Q22 Deletion Syndrome	Short palpebral fissure, Patent foramen ovale, Epicanthus, Patent ductus arteriosus, Ventricular ...	OMIM:613457
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Pulmonary artery stenosis, Epicanthus, Atrial septal defect, Ve...	OMIM:300998
Microphthalmia, Syndromic 2	Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Pulmonic stenosis, Aortic valve ...	OMIM:300166
Pulmonary Alveolar Microlithiasis	Calcification of the aorta, Mitral valve calcification, Hypoxemia, Cyanosis, Oxygen desaturation ...	ORPHA:60025
Neuroendocrine Tumor Of The Colon	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100080
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Left su...	ORPHA:464738
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Transposition of the great arteries, Elevated circulating alkaline phosphatase concentration, Hep...	OMIM:280000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno...	ORPHA:2396
Neu-Laxova Syndrome 1	Stillbirth, Transposition of the great arteries, Pterygium, Patent foramen ovale, Absent eyelashe...	OMIM:256520
Jacobsen Syndrome	Ectropion, Iris coloboma, Death in infancy, Aortic valve stenosis, Ptosis, Coarctation of aorta, ...	ORPHA:2308
Opitz Gbbb Syndrome	Telecanthus, Aortic root aneurysm, Patent foramen ovale, Ptosis, Coarctation of aorta, Abnormal h...	ORPHA:2745
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Telecanthus, Highly arched eyebrow, Pulmonary artery atresia, Syno...	OMIM:620568
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom...	ORPHA:797
Down Syndrome	Atrioventricular canal defect, Prematurely aged appearance, Blepharitis, Secundum atrial septal d...	ORPHA:870
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
16P13.11 Microdeletion Syndrome	Downslanted palpebral fissures, Atrial septal defect, Ventricular septal defect, Cyclopia	ORPHA:261236
Mixed Connective Tissue Disease	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:809
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Dilated cardiomyopathy, Ventricular septal defect, Upslanted palpebral fis...	ORPHA:261250
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Ventricular septal defect, Iris coloboma	OMIM:222448
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly	OMIM:308230
Thauvin-Robinet-Faivre Syndrome	Coloboma, Retinal coloboma, Long palpebral fissure, Downslanted palpebral fissures, Epicanthus, M...	OMIM:617107
Macrophage Activation Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:158061
Ogden Syndrome	Left atrial enlargement, Bilateral ptosis, Cardiomegaly, Bicuspid aortic valve, Palpebral thicken...	OMIM:300855
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Intellectual Developmental Disorder, Autosomal Dominant 53	Downslanted palpebral fissures, Ventricular septal defect, Epicanthus	OMIM:617798
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Splenomegaly	ORPHA:436159
Poems Syndrome	Pericardial effusion, Plethora, Acrocyanosis	ORPHA:2905
Trichohepatoneurodevelopmental Syndrome	Ectropion, Synophrys, Long eyelashes, Ptosis, Almond-shaped palpebral fissure, Epicanthus, Patent...	OMIM:618268
Holoprosencephaly 14	Aortic valve atresia, Ventricular septal defect, Gray matter heterotopia, Double outlet right ven...	OMIM:619895
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Mgat2-Cdg	Long eyelashes, Downslanted palpebral fissures, Abnormal heart morphology, Patent ductus arterios...	ORPHA:79329
Congenital Disorder Of Glycosylation, Type Iia	Downslanted palpebral fissures, Ventricular septal defect, Thick eyebrow, Long eyelashes	OMIM:212066
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Atrial septal defect, Ventricular septal defect, Pachygyria, Patent ductus arteriosus	OMIM:620558
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:610377
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Atrial septal defect, Large placenta, Hepatomegaly, Abnormal aortic arch morphology, Hypertrophic...	ORPHA:96334
Weill-Marchesani Syndrome 1	Shallow orbits, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular s...	OMIM:277600
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Familial Hemophagocytic Lymphohistiocytosis	Lymphadenopathy, Splenomegaly	ORPHA:540
Hajdu-Cheney Syndrome	Telecanthus, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, Epicanthus...	OMIM:102500
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Tetralogy of Fallot, Thick eyebrow...	ORPHA:1519
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis	OMIM:618986
Duane-Radial Ray Syndrome	Vascular dilatation, Retinal coloboma, Epicanthus, Atrial septal defect, Ventricular septal defec...	OMIM:607323
Mycophenolate Mofetil Embryopathy	Coarctation of aorta, Chorioretinal coloboma, Eyelid coloboma, Ventricular septal defect, Iris co...	ORPHA:268249
Waldenström Macroglobulinemia	Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:33226
Familial Pancreatic Carcinoma	Anorexia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Hand-Foot-Genital Syndrome	Miscarriage, Ventricular septal defect	ORPHA:2438
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Long eyelashes, Pulmonic stenosis, Ptosis, Downslanted palpebral fis...	OMIM:607721
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Aortic valve stenosis, Ptosis, Ventricular septal defect	OMIM:272950
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Fanconi Anemia, Complementation Group N	Atrial septal defect, Ventricular septal defect, Epicanthus	OMIM:610832
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:615895
Kikuchi-Fujimoto Disease	Anorexia, Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopa...	ORPHA:50918
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect, Interface hepatitis	OMIM:243150
Hemophagocytic Lymphohistiocytosis, Familial, 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:603553
Chediak-Higashi Syndrome	Lymphadenopathy, Splenomegaly, Macular hypoplasia	OMIM:214500
Renpenning Syndrome 1	Situs inversus totalis, Death in childhood, Telecanthus, Coloboma, Sparse lateral eyebrow, Tetral...	OMIM:309500
Neuroendocrine Tumor Of The Rectum	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100082
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Stroke, Ventricular hypertrophy, Transient ischemic attack, Aortic di...	ORPHA:51608
Diamond-Blackfan Anemia 10	Ventricular septal defect, Patent ductus arteriosus	OMIM:613309
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Ethylene Glycol Poisoning	Cyanosis	ORPHA:31826
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Hemophagocytic Lymphohistiocytosis, Familial, 1	Lymphadenopathy, Splenomegaly	OMIM:267700
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Dysplastic tri...	OMIM:157800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad eyebrow, Patent foramen ovale, Coloboma, Downslanted palpebral fissures, Epicanthus, Patent...	OMIM:616975
Hyper-Igd Syndrome	Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Omodysplasia 1	Narrow palpebral fissure, Popliteal pterygium, Axillary pterygium, Pulmonary artery stenosis, Epi...	OMIM:258315
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Short palpebral fissure, Shallow orbits, Pulmonary artery stenosis, Atri...	OMIM:301030
7Q11.23 Microduplication Syndrome	Narrow palpebral fissure, Aortic aneurysm, Long eyelashes, Aortic valve stenosis, Horizontal eyeb...	ORPHA:96121
Dermatomyositis	Myocarditis, Facial erythema, V-sign, Cutaneous photosensitivity, Vasculitis, Abnormal eyelid mor...	ORPHA:221
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Synophrys, Ptosis, Tetralogy of Fallot, Epicanthus inversus, Epicanthus, Na...	OMIM:613458
Cardiogenic Shock	Hypoxemia, Cyanosis	ORPHA:97292
Focal Dermal Hypoplasia	Patent ductus arteriosus, Spina bifida, Acute hepatic failure, Umbilical hernia, Ventricular sept...	ORPHA:2092
Trichothiodystrophy	Ectropion, Cutaneous photosensitivity, Prematurely aged appearance, Cardiomyopathy, Epicanthus, C...	ORPHA:33364
Tbck-Related Intellectual Disability Syndrome	Synophrys, Pulmonic stenosis, Thick eyebrow, Epicanthus, Ventricular septal defect, Upslanted pal...	ORPHA:488632
Coffin-Siris Syndrome	Ptosis, Abnormal heart morphology, Tetralogy of Fallot, Thick eyebrow, Patent ductus arteriosus, ...	ORPHA:1465
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Umbilical hernia, Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Postinfectious Vasculitis	Ischemic stroke, Palpable purpura, Vascular dilatation, Bacterial endocarditis, Cardiomyopathy, V...	ORPHA:48435
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Ectopic thymus tissue	OMIM:113620
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233710
Weill-Marchesani Syndrome 2	Pulmonic stenosis, Aortic valve stenosis, Umbilical hernia, Ascending aortic dissection, Patent d...	OMIM:608328
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Palpebral edema, Downslanted palpebral fissures, Epicanthus, Patent duc...	ORPHA:261337
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Hypopla...	OMIM:619503
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Hemobilia, Abnormal circulating enzyme concentration or activity, Ab...	ORPHA:512
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphadenopathy, Splenomegaly	OMIM:617591
Acrofacial Dysostosis 1, Nager Type	Urticaria, Downslanted palpebral fissures, Tetralogy of Fallot, Sparse lower eyelashes, Patent du...	OMIM:154400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Absent lacrimal punctum, Sparse eyebrow, Ventricular septal defect, Ankylobleph...	ORPHA:1071
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Upper eyelid coloboma, Ablepharon...	OMIM:616462
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233690
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Short palpebral fissure, Atrioventricular canal defect, Abnormal nasolacrimal system morphology, ...	ORPHA:3047
Q Fever	Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:781
Cerebellar-Facial-Dental Syndrome	S-shaped palpebral fissures, Ascending tubular aorta aneurysm, Sparse eyebrow, Mitral valve prola...	ORPHA:444072
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Poor wound healing, Ventricular septal defect, Peripheral pulmonary ...	OMIM:123700
Graft Versus Host Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Pitt-Hopkins Syndrome	Upslanted palpebral fissure, Acrocyanosis	ORPHA:2896
Frank-Ter Haar Syndrome	Patent foramen ovale, Downslanted palpebral fissures, Secundum atrial septal defect, Mitral valve...	OMIM:249420
Cerebellofaciodental Syndrome	Sparse eyebrow, Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydrops fetalis, Pancreatitis, Splenic cyst, Hepatic sinusoidal dilatation, Cerebral edema, Crypt...	OMIM:620371
Tetrasomy 9P	Jaundice, Dextrocardia, Juxtaductal coarctation of the aorta, Biliary atresia, Polymicrogyria, Pa...	ORPHA:3310
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Prolonged n...	OMIM:619418
Cornelia De Lange Syndrome 1	Curly eyelashes, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis, Cutis marmorata, Optic...	OMIM:122470
Farber Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Highly arched eyebrow, Patent foramen ovale, Long eyelashes, Synophrys, Pto...	ORPHA:444077
Trisomy 18	Cyclopia, Epicanthus, Atrial septal defect, Ventricular septal defect, Blepharophimosis, Iris col...	ORPHA:3380
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Retinal coloboma, Long palpebral fissure, Downslanted palpeb...	ORPHA:500095
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Cutaneous photosensitivity, Abnormal eyelash morphology, Ptosis, D...	ORPHA:818
Alg9-Cdg	Atrial septal defect, Hepatomegaly, Abnormal left ventricular outflow tract morphology, Periporta...	ORPHA:79328
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect, Upslanted palpebral fissure	OMIM:619306
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Pallister-Hall Syndrome	Preductal coarctation of the aorta, Ventricular septal defect, Patent ductus arteriosus	OMIM:146510
Koolen-De Vries Syndrome Due To A Point Mutation	Short palpebral fissure, Aortic aneurysm, Ectodermal dysplasia, Cardiomyopathy, Pulmonic stenosis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Short palpebral fissure, Aortic aneurysm, Ectodermal dysplasia, Cardiomyopathy, Pulmonic stenosis...	ORPHA:363958
Fanconi Anemia, Complementation Group C	Bruising susceptibility, Ventricular septal defect, Epicanthus	OMIM:227645
Hajdu-Cheney Syndrome	Telecanthus, Synophrys, Aortic valve stenosis, Downslanted palpebral fissures, Mitral stenosis, T...	ORPHA:955
Arboleda-Tham Syndrome	Highly arched eyebrow, Pulmonic stenosis, Ptosis, Conjunctivitis, Secundum atrial septal defect, ...	OMIM:616268
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Death in infancy, Ptosis, Coarctation of aorta, Tetralogy of Fallo...	OMIM:274000
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Myhre Syndrome	Narrow palpebral fissure, Aortic valve stenosis, Pericardial effusion, Coarctation of aorta, Thic...	OMIM:139210
Codas Syndrome	Ptosis, Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Lymphadenopathy, Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly	OMIM:615688
Opitz Gbbb Syndrome	Ventricular septal defect, Telecanthus	OMIM:300000
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept...	OMIM:619268
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Aortic aneurysm, Coloboma, Shallow orbits, Long palpebral fissure, Ptosis, Abnormal heart morphol...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Aortic aneurysm, Coloboma, Shallow orbits, Long palpebral fissure, Ptosis, Abnormal heart morphol...	ORPHA:352665
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Atrial septal defect, Ventricular septal defect, Histiocytoid cardiomyopathy	OMIM:309801
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Muscular ventricular septal defect, Death in childhood, Patent foramen ovale, Death i...	OMIM:210710
Fryns Syndrome	Stillbirth, Atrial septal defect, Narrow palpebral fissure, Ventricular septal defect, Blepharoph...	OMIM:229850
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Short palpebral fissure, Dextroc...	ORPHA:2461
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal left ventricle morphology, Patent foramen ovale, Ebstein anomaly of the tricuspid valve,...	ORPHA:466791
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aortic root aneurysm, Acrocyanosis, Ascending tubular aorta aneurysm, Arter...	ORPHA:285
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Abnormality of neuronal migration, Ventricular septal defect, Patent ductu...	ORPHA:464311
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Ventricular septal hypertrophy, Telecanthus, Synophrys, Thin eyebrow, Ve...	OMIM:608670
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Neuroblastoma	Lymphadenopathy	ORPHA:635
Hyperoxaluria, Primary, Type I	Cutis marmorata, Peripheral arterial stenosis, Acrocyanosis	OMIM:259900
Catel-Manzke Syndrome	Dextrocardia, Coarctation of aorta, Thin eyebrow, Overriding aorta, Ventricular septal defect, Up...	OMIM:616145
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Ventricular septal defect, Hepatic fibrosis, Pachygyria	OMIM:263520
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Coarctation of aorta, Abnormal hea...	ORPHA:97360
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Coarctation of aorta, Downslanted palpebr...	OMIM:163950
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Splenomegaly	ORPHA:98849
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Highly arched eyebrow, Synophrys, Downslanted palpebral fissures, Unilateral ptosis, Partial anom...	OMIM:301044
H Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:168569
Coffin-Lowry Syndrome	Telecanthus, Highly arched eyebrow, Downslanted palpebral fissures, Cutis marmorata, Thick eyebro...	OMIM:303600
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Aplasia of the thymus	ORPHA:83471
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Primary Hyperoxaluria	Cutis marmorata, Cardiomyopathy, Acrocyanosis	ORPHA:416
Limb Body Wall Complex	Ectopia cordis, Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Myelomeni...	ORPHA:2369
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly	ORPHA:1572
Ellis Van Creveld Syndrome	Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal heart valve morphol...	ORPHA:289
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:306400
Cerebrocostomandibular Syndrome	Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Ventricular septal defect	ORPHA:1393
Congenital Syphilis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Patent ductus arteriosus	OMIM:619480
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Coarctation of aorta, Abnormal heart morphology, ...	ORPHA:124
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Spina bifida occulta, Tricuspid stenosis, Coarcta...	OMIM:105650
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Spina bifida occulta, Aortic aneurysm	OMIM:150250
Zttk Syndrome	Broad eyebrow, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Patent ductus arterios...	OMIM:617140
Vater/Vacterl Association	Occipital encephalocele, Transposition of the great arteries, Patent ductus arteriosus, Spina bif...	OMIM:192350
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Aortic root aneurysm, Noncompaction cardiomyopathy, Patent foramen ovale, E...	OMIM:607872
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Mosaic Trisomy 20	Abnormal mitral valve morphology, Ventricular septal defect, Upslanted palpebral fissure, Dysplas...	ORPHA:1724
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37042
Hennekam Syndrome	Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Kabuki Syndrome 1	Bilateral ptosis, Highly arched eyebrow, Long palpebral fissure, Ptosis, Coarctation of aorta, Sp...	OMIM:147920
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Degcags Syndrome	Premature graying of hair, Dysplastic pulmonary valve, Patent foramen ovale, Abnormal eyelash mor...	OMIM:619488
Diets-Jongmans Syndrome	Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Umbilical he...	OMIM:618846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Ventricular septal defect	OMIM:614947
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Chorioretinal coloboma, Epicanthus, Ventricular septal defect, Iris coloboma	OMIM:613884
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Cerebrocostomandibular Syndrome	Downslanted palpebral fissures, Epicanthus, Patent ductus arteriosus, Atrial septal defect, Ventr...	OMIM:117650
Multiple Myeloma	Lymphadenopathy, Splenomegaly	ORPHA:29073
Meier-Gorlin Syndrome 7	Thin eyebrow, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal de...	OMIM:617063
Smith-Lemli-Opitz Syndrome	Hypertrophic cardiomyopathy, Death in infancy, Ptosis, Coarctation of aorta, Severe photosensitiv...	OMIM:270400
Immunodeficiency 31C	Lymphadenopathy, Splenomegaly	OMIM:614162
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Autoimmune Lymphoproliferative Syndrome	Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Death in infancy, Downslanted palpebral fissures, Epicanthus, Atrial septal defec...	ORPHA:373
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Polymicrogyria, Simplified gyral pattern, Patent ductus arteriosus, Atri...	OMIM:615948
Tangier Disease	Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy	ORPHA:31150
Microphthalmia, Syndromic 1	Microphthalmia, Self-mutilation, Anophthalmia, Aggressive behavior	OMIM:309800
Williams Syndrome	Abnormal carotid artery morphology, Pulmonic stenosis, Mitral valve prolapse, Abnormal cerebral v...	ORPHA:904
Renal Agenesis	Ventricular septal defect	ORPHA:411709
Histidinemia	Hyperactivity	ORPHA:2157
Chédiak-Higashi Syndrome	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:167
Costello Syndrome	Lymphangiectasis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral f...	OMIM:218040
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Mowat-Wilson Syndrome	Broad eyebrow, Pulmonic stenosis, Pulmonary artery stenosis, Downslanted palpebral fissures, Abno...	OMIM:235730
Holt-Oram Syndrome	Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal...	OMIM:142900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Orofaciodigital Syndrome Type 14	Telecanthus, Retinal coloboma, Patent ductus arteriosus, Ventricular septal defect, Upslanted pal...	ORPHA:434179
Okamoto Syndrome	Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ...	ORPHA:2729
Coccidioidomycosis	Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen	ORPHA:228123
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Epicanthus...	ORPHA:459070
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Anomalous origin of left subclavian artery, Almond-shaped palpebral fissure...	ORPHA:438213
Perlman Syndrome	Interrupted aortic arch	OMIM:267000
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:32960
Cornelia De Lange Syndrome	Curly eyelashes, Highly arched eyebrow, Synophrys, Long eyelashes, Blepharitis, Ptosis, Cutis mar...	ORPHA:199
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Highly arched eyebrow, Ventricular hypertrophy, Tricuspid stenosis, Pulmonic stenosis, Aortic val...	OMIM:143095
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:616682
Coffin-Siris Syndrome 1	Long eyelashes, Ptosis, Downslanted palpebral fissures, Cutis marmorata, Tetralogy of Fallot, Thi...	OMIM:135900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ...	ORPHA:363700
Keutel Syndrome	Miscarriage, Pulmonary artery hypoplasia, Pulmonic stenosis, Ventricular septal defect, Periphera...	OMIM:245150
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Behçet Disease	Anorexia, Lymphadenopathy, Splenomegaly	ORPHA:117
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Lymphadenopathy, Splenomegaly, Follicular hyperplasia	OMIM:619381
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Intrahepatic cholestasis, Vascular dilatation, Hepa...	OMIM:243800
Brucellosis	Anorexia, Lymphadenopathy, Splenomegaly, Hypersplenism	ORPHA:1304
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Telecanthus, Long palpebral fissure, Epicanthus, Narrow palpebral fissure, Ventricular septal def...	OMIM:620330
Familial Mediterranean Fever	Lymphadenopathy, Splenomegaly	ORPHA:342
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect, Epicanthus	OMIM:619727
Roberts-Sc Phocomelia Syndrome	Stillbirth, Coloboma, Shallow orbits, Downslanted palpebral fissures, Eyelid coloboma, Patent duc...	OMIM:268300
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Telecanthus, Downslanted palpebral fissures, Epicanthus, Patent ductus arte...	OMIM:619522
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Hypoplastic nipples, Patent ductus arteriosus	ORPHA:480880
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Retinal arteriolar tortuosity, Stroke, Renal artery stenosi...	OMIM:194050
Systemic Lupus Erythematosus	Anorexia, Lymphadenopathy	ORPHA:536
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Splenomegaly	ORPHA:667
Crimean-Congo Hemorrhagic Fever	Anorexia, Lymphadenopathy, Agitation, Splenomegaly	ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Fatiguable weakness of proximal limb muscles, Abnormal lymph node morphology, Neoplasm ...	ORPHA:99889
Marburg Hemorrhagic Fever	Anorexia, Lymphadenopathy, Aggressive behavior	ORPHA:99826
Simpson-Golabi-Behmel Syndrome, Type 1	Transposition of the great arteries, Hepatomegaly, Patent ductus arteriosus, Cardiomyopathy, Tota...	OMIM:312870
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Hydrolethalus Syndrome 1	Stillbirth, Ventricular septal defect, Complete atrioventricular canal defect	OMIM:236680
Igg4-Related Kidney Disease	Lymphadenitis, Lymphadenopathy	ORPHA:449395
Pmm2-Cdg	Abnormal liver parenchyma morphology, Anasarca, Elevated circulating hepatic transaminase concent...	ORPHA:79318
Pallister-Killian Syndrome	Stillbirth, Telecanthus, Hypertrophic cardiomyopathy, Aortic valve stenosis, Sparse eyelashes, Co...	OMIM:601803
Proteasome-Associated Autoinflammatory Syndrome 1	Lymphadenopathy, Splenomegaly	OMIM:256040
Leptospirosis	Anorexia, Lymphadenopathy	ORPHA:509
Primary Sjögren Syndrome	Lymphadenopathy	ORPHA:289390
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
African Trypanosomiasis	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Aggressive behavior	ORPHA:3385
Goodpasture Syndrome	Cyanosis	OMIM:233450
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Blau Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:90340
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad eyebrow, Telecanthus, Abnormal pulmonary valve morphology, Highly arched eyebrow, Retinal c...	ORPHA:261552
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect, Pachygyria, Periventricular heterotopia	OMIM:606170
Townes-Brocks Syndrome 1	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Umbilical hernia	OMIM:107480
Penile Agenesis	Atrial septal defect, Ventricular septal defect	ORPHA:49

Histopathology

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

There is no histopathology data for Jun

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

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

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

Title	Journal	IMPC Allele	PubMed ID
JunB regulates homeostasis and suppressive functions of effector regulatory T cells.	Nature communications (December 2018)	Junb^{tm1c(EUCOMM)Hmgu}	PMC6297218
JunB is essential for IL-23-dependent pathogenicity of Th17 cells.	Nature communications (May 2017)	Junb^{tm1a(EUCOMM)Hmgu}	PMC5460000

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MGI Allele	Allele Type	Produced
Jun^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Jun^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Jun MGI:96646

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E9.5

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Jun mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data