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Gene: Sox4 MGI:98366

Gene Summary

Name:

SRY (sex determining region Y)-box 4

Synonyms:

Sox-4

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
increased circulating alkaline phosphatase level	Sox4^em1(IMPC)Mbp	HET	Early adult	2.39×10^-05
enlarged gallbladder	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged uterus	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal hindbrain development	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
increased freezing behavior	Sox4^em1(IMPC)Mbp	HET	Early adult	7.11×10^-12
abnormal heart morphology	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal retina morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	2.56×10^-06
abnormal retina vasculature morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	2.85×10^-06
abnormal neural tube closure	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal retina blood vessel morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	4.62×10^-07
decreased brain size	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Sox4^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Sox4^em1(IMPC)Mbp	HET	Early adult	2.63×10^-09
abnormal gallbladder morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal brain morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Sox4^em1(IMPC)Mbp	HET	Early adult	5.47×10^-05
abnormal uterus morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal bone structure	Sox4^em1(IMPC)Mbp	HET	Early adult	8.97×10^-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E9.5

Images

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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Human diseases caused by Sox4 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 Sox4 (2 diseases)
Human diseases predicted to be associated with Sox4 (1250 diseases)

The table below shows human diseases associated to Sox4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies		Ventricular septal defect	OMIM:618506
Coffin-Siris Syndrome		Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, ...	ORPHA:1465

The table below shows human diseases predicted to be associated to Sox4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Fetal Parvovirus Syndrome	Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thrombocytopenia, Anemia, Hy...	ORPHA:295
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Hydrops Fetalis, Nonimmune	Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:236750
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular sept...	ORPHA:3405
Long Qt Syndrome 3	Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar...	OMIM:603830
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis...	ORPHA:1909
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec...	ORPHA:45452
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620135
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death	OMIM:107970
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal pericardial effusion, Fetal ascites, Splenomegaly, Hydrops fetalis, Polyhydramnios, Fetal p...	OMIM:619462
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d...	OMIM:610476
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Atrial septa...	ORPHA:101028
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Tetralogy of Fallot, ...	ORPHA:210122
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong...	OMIM:613426
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H...	ORPHA:99095
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth...	ORPHA:99886
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi...	ORPHA:1923
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Nuchal Bleb, Familial	Hydrops fetalis, Fetal cystic hygroma, Stillbirth	OMIM:257350
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo...	ORPHA:2414
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Atrial Fibrillation, Familial, 15	Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde...	OMIM:615770
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Ane...	ORPHA:163596
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Pulmonary insufficiency, Hydrops fe...	OMIM:619433
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fistula, Intestinal atresia, Abno...	ORPHA:93941
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Dysphagia, Ventricular septal defect	OMIM:619083
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ...	ORPHA:860
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Asc...	ORPHA:90308
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t...	OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Hydrops Fetalis	Generalized edema, Increased placental thickness, Lymphedema, Ascites, Abnormal heart morphology,...	ORPHA:1041
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, High palat...	OMIM:269920
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimm...	OMIM:619313
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Fetal pericardial effusion, Increased mean corpuscular volume, Second degree atrioventricular blo...	OMIM:617021
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
17Q12 Microduplication Syndrome	Polyhydramnios, Tracheoesophageal fistula, Atrial septal defect, Cleft palate	ORPHA:261272
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle...	ORPHA:1457
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Ascites, Oligohydramnios, Decreased fetal movement, Neonatal death, P...	OMIM:608104
Glycogen Storage Disease Iv	Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Decreased fetal movement, Esoph...	OMIM:232500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ...	OMIM:601927
Atrial Standstill 1	Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra...	OMIM:108770
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Bradycardia, Hydrop...	OMIM:618815
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Abnormal gastrointestinal tract m...	ORPHA:141127
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ...	ORPHA:90064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Ventricular septal defect, Neonatal death, Bicuspid aortic ...	OMIM:265380
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc...	ORPHA:552
Fanconi Anemia, Complementation Group B	Aplastic anemia, Duodenal atresia, Ventricular septal defect, Coarctation of aorta, Tracheoesopha...	OMIM:300514
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Congenital Disorder Of Glycosylation, Type Ik	Abnormality of the amniotic fluid, Splenomegaly, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:608540
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Absence of stomach bubble on fetal sonography, Neonatal death, Tra...	OMIM:314390
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Pigmentary retinopathy, Depression, Cholelithias...	ORPHA:79095
Congenital Tracheomalacia	Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc...	ORPHA:95430
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Ciliary Dyskinesia, Primary, 53	Polysplenia, Ductus venosus agenesis, Right aortic arch, Situs inversus totalis, Patent foramen o...	OMIM:620642
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation...	ORPHA:3286
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Alpha-Thalassemia	Generalized edema, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hem...	ORPHA:846
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Diffuse Neonatal Hemangiomatosis	Ascites, Polyhydramnios, Thrombocytopenia, Anemia, Hydrops fetalis, Patent ductus arteriosus, Pre...	ORPHA:2123
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Neuraminidase Deficiency	Facial edema, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hydrops fetalis, Vacuolated ly...	OMIM:256550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Megaduodenum, Perimemb...	OMIM:611376
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Congenital Enterovirus Infection	Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Leukopenia, Leukocytosis, Abnormal ma...	ORPHA:292
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P...	ORPHA:401935
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At...	ORPHA:185
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:613124
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Fliedner-Zweier Syndrome	Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoesophageal fistula, High p...	OMIM:620511
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Intestinal pseudo-obstruction, Ventricular escape rhythm, Mitral regurgitation, B...	OMIM:616201
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis	OMIM:619003
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Beta-Thalassemia	Cholelithiasis, Hepatitis, Splenomegaly, Irritability, Hypogonadotropic hypogonadism, Hepatomegal...	ORPHA:848
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca...	OMIM:614916
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep...	ORPHA:263297
Congenital Contractural Arachnodactyly	Intestinal malrotation, Mitral valve prolapse, Aortic aneurysm, Tracheoesophageal fistula, High p...	ORPHA:115
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Dysphagia, Cardiomyopathy	OMIM:255100
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Decreased fetal movement, Neonatal death, ...	ORPHA:85212
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Oligohydramnios, Situs inversus totalis, Trun...	OMIM:615415
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Aganglionic megacolon, Atrial septal defect, Tachycardia, Hypertension...	OMIM:613870
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Ventricular s...	OMIM:617478
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Glossitis, Tracheoesophageal fistula, Megaloblastic anemia, Atrial septal defect, T...	OMIM:277380
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Intestinal malrotation, Heart murmur, Submucous clef...	ORPHA:3426
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syndr...	OMIM:619705
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Absence Of The Pulmonary Artery	Pulmonary edema, Atrial septal defect, Tachycardia, Patent ductus arteriosus, Pedal edema, Systol...	ORPHA:980
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven...	OMIM:615616
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
Mulibrey Nanism	Microglossia, Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hydrops ...	OMIM:253250
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Coarctation of...	OMIM:600987
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Hydrops fetalis, Splenomegaly	ORPHA:2204
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Tracheoesophageal fistula, Esophageal atresia, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Feingold Syndrome 1	Accessory spleen, Interrupted aortic arch, Polysplenia, Duodenal atresia, Decreased fetal movemen...	OMIM:164280
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Primum atrial septal defect, Displacement of the papi...	ORPHA:1329
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Velopharyngeal insufficiency, Abnormal heart morphology, Muscular ventricular septal defect, Peri...	ORPHA:363444
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Glycogen Storage Disease Xv	Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr...	OMIM:613507
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin...	OMIM:121300
Chondrodysplasia, Blomstrand Type	Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P...	OMIM:215045
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi...	OMIM:115000
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor...	OMIM:615441
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Tetralogy of Fallot, Inte...	ORPHA:1199
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic...	ORPHA:49827
Lymphatic Malformation 12	Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal...	OMIM:620014
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Anemia, Premature birth	OMIM:618839
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Anemia, Premature birth	OMIM:618835
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis, High palate	OMIM:618205
Ulnar Agenesis And Endocardial Fibroelastosis	Endocardial fibroelastosis, Hydrops fetalis, Neonatal death	OMIM:276822
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Increased erythrocyte pr...	OMIM:300752
Vacterl/Vater Association	Anorectal anomaly, Tracheal stenosis, Tracheoesophageal fistula, Single umbilical artery, Abnorma...	ORPHA:887
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly, Premature birth, Nonimmune hydrops fetalis	OMIM:618838
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, Abnormal cardiomyo...	ORPHA:367
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Long-Olsen-Distelmaier Syndrome	Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive...	OMIM:620609
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration	OMIM:614156
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fistula, Hydro...	ORPHA:268249
Achondrogenesis, Type Ib	Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema	OMIM:600972
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Angioedema, Cerebral ischemia, Thrombocytopenia, Tachy...	ORPHA:449285
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f...	OMIM:616738
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Decreased fetal mov...	OMIM:618804
Aortic Arch Interruption	Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ...	ORPHA:2299
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Tracheoesophageal fistula, Abnormal myocardium morphology, Dysphagia...	ORPHA:537
Congenital Disorder Of Glycosylation, Type Il	Ascites, Villous atrophy, Fetal skin edema, Splenomegaly, Decreased fetal movement, Atrial septal...	OMIM:608776
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Abnormality of the spleen, Anorectal anomaly, Oligohydramnios, Abnormal ...	ORPHA:1834
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Ventricula...	OMIM:115197
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Colon perforation, Microcolon, Total absence of the pericardium, Hypopla...	OMIM:600001
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Combined Oxidative Phosphorylation Deficiency 59	Attention deficit hyperactivity disorder, Hyperalaninemia, Cholelithiasis, Retinal degeneration	OMIM:620646
Nemaline Myopathy 9	Fetal akinesia sequence, Breech presentation, Polyhydramnios, Ventricular septal defect	OMIM:615731
Variegate Porphyria	Tachycardia, Increased fecal protoporphyrin concentration	OMIM:176200
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ...	OMIM:616897
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ...	ORPHA:97214
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dysp...	OMIM:616276
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesophageal fistula, Esoph...	OMIM:619227
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag...	ORPHA:2538
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Gaucher Disease Type 1	Elevated circulating CCL18 level, Osteopenia, Cholelithiasis, Depression, Hepatic failure, Spleni...	ORPHA:77259
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276556
Beta-Thalassemia Intermedia	Osteopenia, Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hypogonadi...	ORPHA:231222
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Sialidosis Type 2	Ascites, Hydrops fetalis, Splenomegaly, Pedal edema	ORPHA:87876
Lethal Congenital Contracture Syndrome 10	Narrow palate, Oligohydramnios, Ventricular septal defect, Fetal akinesia sequence, Hypoplasia of...	OMIM:617022
Noonan Syndrome 12	Tetralogy of Fallot, Lymphopenia, Supravalvular aortic stenosis, Ventricular septal defect, Throm...	OMIM:618624
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia	OMIM:605479
Lymphatic Malformation 13	Fetal pericardial effusion, Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Noni...	OMIM:620244
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Czeizel-Losonci Syndrome	High palate, Tracheoesophageal fistula, Dextrocardia, Thickened nuchal skin fold	ORPHA:2437
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent...	OMIM:601186
Combined Oxidative Phosphorylation Deficiency 57	Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fet...	OMIM:620167
Schisis Association	Anal atresia, Tracheoesophageal fistula, Cleft palate, Premature birth	ORPHA:63862
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Emanuel Syndrome	Aortic valve stenosis, Oligohydramnios, Ventricular septal defect, Truncus arteriosus, Atrial sep...	OMIM:609029
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276575
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Transposition of the g...	ORPHA:1780
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations	ORPHA:276580
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Abnormal circulating porphyrin concentration, Decreased liver function	ORPHA:79278
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Myotonic Dystrophy 1	Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia	OMIM:160900
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect	OMIM:617516
Romano-Ward Syndrome	Abnormality of prenatal development or birth, Abnormal T-wave, Torsade de pointes, Sinus bradycar...	ORPHA:101016
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Chromosome 9P Deletion Syndrome	High, narrow palate, Narrow palate, Ventricular septal defect, Perimembranous ventricular septal ...	OMIM:158170
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Anteriorly placed anus, Patent foramen ovale, Ven...	ORPHA:26793
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re...	ORPHA:57777
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Splenomegaly	OMIM:224100
Long Qt Syndrome 6	Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio...	OMIM:613693
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Mgat2-Cdg	Gastroesophageal reflux, Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Impair...	ORPHA:79329
Opitz Gbbb Syndrome	Aortic root aneurysm, Tracheomalacia, Abnormal heart morphology, Ankyloglossia, Patent foramen ov...	ORPHA:2745
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, ...	OMIM:227646
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Spinal Muscular Atrophy, Type I	Atrial septal defect, Decreased fetal movement, Ventricular septal defect	OMIM:253300
Lymphatic Malformation 6	Facial edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Lymphedema, Ascites, Intes...	OMIM:616843
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:249670
Jervell And Lange-Nielsen Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval	OMIM:220400
Acquired Methemoglobinemia	Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Pleural effusion, Thrombocytopenia, Anemia, Tachy...	ORPHA:3392
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Congenital Fibrinogen Deficiency	Volvulus, Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Tachycardia, Right ...	ORPHA:335
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Tracheomalacia, Persiste...	OMIM:612561
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Tachycardia, Syncope	OMIM:192445
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Infant Acute Respiratory Distress Syndrome	Hypotension, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest, Premature birth	ORPHA:70587
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Tracheoesophageal fistula, Esophageal atresia, Neonatal death	OMIM:619859
High Altitude Pulmonary Edema	Pulmonary edema, Tachycardia, Leukocytosis	ORPHA:330012
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Emanuel Syndrome	Aortic valve stenosis, Oligohydramnios, Ventricular septal defect, Truncus arteriosus, Atrial sep...	ORPHA:96170
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Trisomy 1Q	Increased nuchal translucency, Ventricular septal defect, Polyhydramnios, Anal atresia, Hydrops f...	ORPHA:261344
Cardiac-Urogenital Syndrome	Accessory spleen, Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Tr...	OMIM:618280
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect	ORPHA:2476
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon...	ORPHA:90647
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Ebstein Anomaly	Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At...	OMIM:224700
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula, Esophageal atresia	OMIM:189960
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Tracheal atresia, Coarctation of aorta, Abnormal cardiac septum morphology, Paten...	OMIM:601612
Mosaic Trisomy 9	Abnormal heart valve morphology, Intestinal malrotation, Oligohydramnios, Endocardial fibroelasto...	ORPHA:99776
Donnai-Barrow Syndrome	Abnormality of the uterus, Retinal detachment, Bicornuate uterus, Iris coloboma, Retinal dystrophy	ORPHA:2143
Fanconi Anemia	Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Hypertrophic cardiomyopathy, Tetralogy of F...	ORPHA:84
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Immunodeficiency, Common Variable, 13	Fetal distress, Pancytopenia, B lymphocytopenia, Polyhydramnios, Acute lymphoblastic leukemia	OMIM:616873
Gm1 Gangliosidosis	Gastroesophageal reflux, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Hep...	ORPHA:354
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Cholecystitis, Reduced haptoglobin level, Splenomegaly, Jaundice, Hepatomegaly, U...	OMIM:266200
Trisomy 13	High, narrow palate, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Patent duc...	ORPHA:3378
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal heart morphology, Tachycardia, Dysphagia	ORPHA:79264
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te...	ORPHA:69735
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Patent foramen ovale, Bradycardia	OMIM:617182
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul...	OMIM:212138
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Coronary artery fistula, Biventricular hypertrophy, Complete atrioventric...	OMIM:619343
Long Qt Syndrome 1	Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat...	OMIM:192500
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula	ORPHA:1839
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Hydrops fetalis, Abnormality of the...	OMIM:609015
Ogden Syndrome	Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction...	OMIM:300855
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Van Esch-O'Driscoll Syndrome	Bifid uvula, Ventricular septal defect, Pulmonary artery stenosis, Tracheoesophageal fistula, Pul...	OMIM:301030
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr...	OMIM:153400
Distal Duplication 5Q	Chorioretinal coloboma, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Craniosynostosis, ...	ORPHA:96097
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Cimdag Syndrome	Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Hepatomegaly, Retinal dystrophy	OMIM:619273
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase co...	OMIM:232800
Relapsing Fever	Epistaxis, Hypotension, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Tachyca...	ORPHA:91547
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Panc...	ORPHA:521219
Achondrogenesis	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:932
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septa...	ORPHA:485405
Alg8-Cdg	Ascites, Oligohydramnios, Abnormality of the gastrointestinal tract, Thrombocytopenia, Anemia, Ma...	ORPHA:79325
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Infantile Myofibromatosis	Abnormal intestine morphology, Tracheoesophageal fistula, Intestinal obstruction	ORPHA:2591
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a...	OMIM:249270
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Pulmonar...	ORPHA:77261
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice	OMIM:613470
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Pigmentary retinopathy, Cholelithiasis, Chronic active hepatitis, Hypoparathyr...	OMIM:240300
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Eales Disease	Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb...	ORPHA:40923
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Combined Oxidative Phosphorylation Defect Type 27	Dysphagia, Nonimmune hydrops fetalis	ORPHA:477774
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice	OMIM:235700
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Acrocardiofacial Syndrome	Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Coarctation ...	ORPHA:2008
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Secundum atrial septal defect, Congestive heart failure, Splenomegaly, P...	OMIM:608779
Fumarase Deficiency	Polycythemia, Ascites, Bilateral fetal pyelectasis, Perimembranous ventricular septal defect, Pol...	OMIM:606812
Jervell And Lange-Nielsen Syndrome 2	Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car...	OMIM:612347
Achondrogenesis Type 1B	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93298
Chronic Granulomatous Disease	Liver abscess, Splenomegaly, Tracheoesophageal fistula, Abnormality of neutrophils, Pyloric stenosis	ORPHA:379
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Patent ductus arteriosus, Pedal edema, Ventricular septal defect	OMIM:126320
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran...	OMIM:605275
Achondrogenesis Type 1A	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93299
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Spleno...	ORPHA:565612
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Bifid uvula, Dilated cardiomyopathy, Ventricular septal defect, Car...	OMIM:614921
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Decreased testicular size, Cryptorchidism, Low frustration tolerance, Aggressive ...	OMIM:300534
Free Sialic Acid Storage Disease	Ascites, Hydrops fetalis, Splenomegaly	ORPHA:834
Acces Syndrome	Tracheoesophageal fistula	OMIM:619959
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Reticulocytosis, Macrocytic anemia, Anisocyt...	ORPHA:71275
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Papilledema, Elevated circulating creatine kinase concentration	OMIM:618775
Grange Syndrome	Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a...	ORPHA:79094
Congenital Myopathy 1B, Autosomal Recessive	Polyhydramnios, High palate, Hydrops fetalis, Decreased fetal movement	OMIM:255320
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Optic dis...	OMIM:213700
Gaucher Disease, Perinatal Lethal	Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly,...	OMIM:608013
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
Brugada Syndrome 8	ST segment elevation, Ventricular tachycardia, Right bundle branch block	OMIM:613123
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Boomerang Dysplasia	Polyhydramnios, Hydrops fetalis	ORPHA:1263
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy,...	ORPHA:505248
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent...	ORPHA:1354
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Martinez-Frias Syndrome	Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden...	OMIM:601346
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, HbH hemoglobin, Protruding tongue, Ventricular septal defect, Perimembra...	OMIM:301040
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect	OMIM:613759
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Sialuria	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Atte...	ORPHA:3166
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia, Dysphagia	ORPHA:368
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Rhombencephalosynapsis	Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Esophageal atresia	ORPHA:59315
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels...	ORPHA:568051
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Retinal thinning, Hepatosplenomegaly, Intrahepatic bile...	OMIM:618955
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Splenomegaly, Retinopathy, Cardiomegaly, Hepatomegaly, Jaundice	OMIM:603903
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Cholelithiasis, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations	ORPHA:324575
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Hoxha-Aliu Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, High palate	OMIM:620662
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Tracheoesophageal fistula	ORPHA:3068
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly	OMIM:182900
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret...	OMIM:615550
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Decreased fetal movement, Ventricular septal defect	OMIM:619717
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy...	ORPHA:542323
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Autoinflammatory Disease, Systemic, With Vasculitis	Periorbital edema, Premature birth, Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, In...	OMIM:620376
Sepsis In Premature Infants	Hypotension, Functional abnormality of the gastrointestinal tract, Leukocytosis, Splenomegaly, Br...	ORPHA:90051
Immunodeficiency 76	Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Congestive heart failure, Lymphedema, Abnormal heart morphology, Cerebral...	ORPHA:137667
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega...	OMIM:194380
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Acro-Renal-Mandibular Syndrome	High palate, Oligohydramnios, Tracheoesophageal fistula, Aplasia/Hypoplasia of the tongue	ORPHA:958
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Dyskeratosis Congenita	Bone marrow hypocellularity, Oral leukoplakia, Anorectal anomaly, Splenomegaly, Telangiectasia of...	ORPHA:1775
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Bronchodysplasia, Nonimm...	OMIM:265300
Long Qt Syndrome 12	Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval	OMIM:612955
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, Ventricular septal defect, Breech presentation, Bradycardia, Retinal hem...	OMIM:614653
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Charge Syndrome	Anal stenosis, Secundum atrial septal defect, Duodenal atresia, Tetralogy of Fallot, Lymphopenia,...	OMIM:214800
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob...	ORPHA:231736
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Intestina...	OMIM:243150
Dyssegmental Dysplasia, Silverman-Handmaker Type	Increased placental thickness, Abnormal heart morphology, Single umbilical artery, Hydrops fetali...	ORPHA:1865
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Edema, Pedal edema	OMIM:152800
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia...	ORPHA:542306
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia	ORPHA:90036
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycar...	OMIM:605676
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ...	ORPHA:124
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Depression, Hepatic failure, Abnormal circulating lipid concentration...	ORPHA:77293
Glycogen Storage Disease Xii	Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulatin...	OMIM:611881
Hemochromatosis, Neonatal	Oligohydramnios, Nonimmune hydrops fetalis	OMIM:231100
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615297
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis, Cardiomyopathy, Hepatocellular carcinoma	ORPHA:88618
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov...	ORPHA:904
Brugada Syndrome 3	Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi...	OMIM:611875
Septo-Optic Dysplasia Spectrum	Tracheoesophageal fistula, Esophageal atresia, Cleft palate	ORPHA:3157
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Thrombocytopenia, Myocarditis, ...	ORPHA:499009
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Pulmonary edema, Breech presentation, Increased myocardial glycogen co...	OMIM:261740
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism...	OMIM:614837
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Lathosterolosis	Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva...	OMIM:607330
Penile Agenesis	Anorectal anomaly, Oligohydramnios, Ventricular septal defect, Tracheoesophageal fistula, Atrial ...	ORPHA:49
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Pancytopenia, Left ventricular hypertrophy, Cerebral edema, Tachycardia	OMIM:618321
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi...	OMIM:602347
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defe...	ORPHA:508498
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Triosephosphate Isomerase Deficiency	Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Optic disc pa...	OMIM:615512
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Renal Agenesis, Bilateral	Fetal polyuria, Oligohydramnios, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft ...	ORPHA:1848
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Transposition of the g...	OMIM:192350
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Halperin-Birk Syndrome	Perimembranous ventricular septal defect, Gastroesophageal reflux, Pseudobulbar paralysis, High p...	OMIM:618651
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas...	ORPHA:97278
Immunodeficiency 62	Decreased proportion of memory B cells, Increased proportion of transitional B cells, B lymphocyt...	OMIM:618459
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Abnormal peritoneum morphology, Hypo...	ORPHA:2126
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema	OMIM:607598
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism	OMIM:615524
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Gastrointestinal infarctions, Prolon...	ORPHA:90068
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Gaucher Disease	Splenic infarction, Osteopenia, Cholelithiasis, Depression, Hepatic failure, Hepatitis, Abnormal ...	ORPHA:355
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperbilirubinemia, Absent gallbla...	OMIM:615710
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis	OMIM:153100
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia	OMIM:612528
Stiff-Person Syndrome	Anemia, Tachycardia, Hypertension	OMIM:184850
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Decreased fetal movement, Ventricular tachycardia, Paroxysmal atr...	OMIM:613205
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia...	ORPHA:404443
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Bacterial Toxic-Shock Syndrome	Hypotension, Edema, Shock, Abscess, Increased circulating myelocyte count, Thrombocytopenia, Myoc...	ORPHA:36234
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Tracheomalacia, Tricuspid regurgitation, Splenic cyst, Patent foramen ovale, High ...	OMIM:620371
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Hepatosplenomegaly, Hydrops fetalis, Macroglossia, Abnormal placenta morphology	ORPHA:79255
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Foam cells	ORPHA:264675
Long Qt Syndrome 14	T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca...	OMIM:616247
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascite...	ORPHA:99827
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Narrow palate, Lymphedema, Intestinal lymphangiectasia, Pleural effus...	OMIM:235510
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:614262
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Depression, Cholelithiasis, Aggressive behavior, Attention deficit hyp...	ORPHA:909
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Macroglossia, Hydrops fetalis	OMIM:253220
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Achondrogenesis, Type Ii	Polyhydramnios, Hydrops fetalis, Edema, Stillbirth	OMIM:200610
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Tracheoesophageal fistula, Esophageal atresia, Anemia, Anal atresia,...	OMIM:614083
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro...	ORPHA:3077
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Alg9-Cdg	Bifid uvula, Gastroesophageal reflux, Tricuspid regurgitation, Abnormal heart morphology, Oligohy...	ORPHA:79328
Vacterl With Hydrocephalus	Tracheoesophageal fistula, Esophageal atresia, Single umbilical artery, Polyhydramnios, Anal atresia	ORPHA:3412
Pearson Syndrome	Bone marrow hypocellularity, Cardiomyopathy, Abnormal heart morphology, Pancytopenia, Median clef...	ORPHA:699
Fibrochondrogenesis 1	Hydrops fetalis, Cleft palate, Patent foramen ovale, Stillbirth	OMIM:228520
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi...	OMIM:614702
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Abnormal internal genitalia, Bile duct proli...	OMIM:612284
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased total bilirubin, Increased circulating fer...	ORPHA:3202
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Abnormal descending aorta morphology, Co...	ORPHA:99050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, T lymphocytopenia, Pulmonary insufficiency, B lymphocytopenia	ORPHA:277
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Steatorrhea, Villous atrophy, Nonimmune hydrops fetalis, Thrombocytosis, Pericard...	OMIM:212065
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Male hypogonadism, Depression, Non-obstructive azoospermia, Decreased testicular size...	ORPHA:432
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Carney Triad	Gastrointestinal hemorrhage, Ascites, Arrhythmia, Anemia, Tachycardia, Hypertension	ORPHA:139411
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Pulmo...	OMIM:208530
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Recurrent bronchitis, Neutropenia, Abnormal T cell morphology	OMIM:613501
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:166210
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Charge Syndrome	Interrupted aortic arch, Gastroesophageal reflux, Tetralogy of Fallot, Aortic arch aneurysm, Abno...	ORPHA:138
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Coronary-pulmonary artery fistula, Patent foramen ovale	OMIM:619699
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect	OMIM:620210
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Dextrocardia,...	OMIM:614294
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Attention deficit hype...	ORPHA:96092
Hereditary Elliptocytosis	Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp...	ORPHA:288
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Intestinal malrotation, Ventricular s...	OMIM:263520
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go...	OMIM:194072
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas...	ORPHA:97261
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Degcags Syndrome	Oral-pharyngeal dysphagia, Hepatosplenomegaly, Pancytopenia, Protruding tongue, Ventricular septa...	OMIM:619488
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Joubert Syndrome 6	Hepatic fibrosis, Chorioretinal coloboma, Retinal degeneration, Motor stereotypy, Bile duct proli...	OMIM:610688
Treacher-Collins Syndrome	Glossoptosis, Hypoplasia of the thymus, Tracheoesophageal fistula, High palate, Rectovaginal fist...	ORPHA:861
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Metachromatic Leukodystrophy	Addictive behavior, Emotional lability, Abnormal gallbladder morphology, Hemobilia, Neoplasm of t...	ORPHA:512
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hypoplastic left heart, High, narrow palate, Gastroesophageal reflux, Narrow pa...	OMIM:180849
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Criss-Cross Heart	Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep...	ORPHA:1461
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L...	OMIM:615355
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Farber Disease	Ascites, Hepatosplenomegaly, CNS foam cells, Joint swelling, Thrombocytopenia, Anemia, Hydrops fe...	ORPHA:333
Phocomelia, Schinzel Type	High, narrow palate, Tracheoesophageal fistula, Anal atresia, Hydrops fetalis, Cleft palate	ORPHA:2879
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys	ORPHA:3411
Brugada Syndrome 2	Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation...	OMIM:611777
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Intestinal malrotation, Tracheoesophageal fistula, Oligohydramnios, Anal atresia	ORPHA:2973
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Fetal distress, Ascites, Pleural effusion, Bradycardia, Thrombocyt...	OMIM:617397
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Lymphopenia, Splenomegaly, Pericardial effusion, Hydrops fetali...	ORPHA:2136
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria...	ORPHA:314478
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ...	ORPHA:65681
Mucopolysaccharidosis Type 7	Ascites, Hydrops fetalis, Splenomegaly, Lymphedema	ORPHA:584
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Dehydration, Shoc...	ORPHA:99826
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Oral-pharyngeal dysphagia, Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycard...	OMIM:616878
Distal 22Q11.2 Microdeletion Syndrome	Truncus arteriosus, Aortic aneurysm, Atrial septal defect, Ventricular septal defect	ORPHA:261330
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Unconjugated hyperbilirubinemia, Abnormal...	ORPHA:232
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Perrault Syndrome 4	Hypoplasia of the ovary, Increased circulating gonadotropin level, Osteoporosis, Hypoplasia of th...	OMIM:615300
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Ventricular Fibrillation, Paroxysmal Familial, 2	Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation	OMIM:612956
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Lipodystrophy, Congenital Generalized, Type 4	Ileus, Splenomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia, Dyspha...	OMIM:613327
Holt-Oram Syndrome	Cleft soft palate, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Si...	OMIM:142900
Hypotonia, Infantile, With Psychomotor Retardation	Decreased fetal movement, Ventricular septal defect	OMIM:616816
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Galactosialidosis	Conjunctival telangiectasia, Hepatosplenomegaly, Nonimmune hydrops fetalis	OMIM:256540
Satoyoshi Syndrome	Osteolytic defects of the phalanges of the hand, Hypoplasia of the uterus, Mildly elevated creati...	OMIM:600705
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Leukocytosis, Pleural ef...	ORPHA:340
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Palmar telangiectasia, Nonimmune hydrops fe...	OMIM:607823
Tetanus	Tachycardia, Hypertension, Dysphagia, Bradycardia	ORPHA:3299
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Atelis Syndrome 1	Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia	OMIM:620184
Hereditary Spherocytosis	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:822
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicusp...	OMIM:612474
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Porphyria, Acute Intermittent	Paralytic ileus, Reduced erythrocyte porphobilinogen deaminase activity, Tachycardia, Hypertensio...	OMIM:176000
Grange Syndrome	Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ...	OMIM:602531
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Optic nerve ...	OMIM:617914
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Perianal abscess, Gastrit...	OMIM:618108
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Campomelia, Cumming Type	Lymphedema, Oligohydramnios, Abnormal intestine morphology, Hydrops fetalis, Cleft palate	ORPHA:1318
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medial calcification of large arteries, Coronary artery calcification, A...	ORPHA:51608
Myotonic Dystrophy 2	Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block	OMIM:602668
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Oligohydramnios, Splenomegaly, Patent foramen ovale, Ventricula...	OMIM:606003
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Leukocytosis, Bradycardia, Arrhythmia, Thro...	ORPHA:94093
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, B lymphocytopenia, Severe B lymphocytopenia, Cleft pala...	ORPHA:83617
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Villous atrophy, Refractory sideroblastic anemia, Reticulocyt...	OMIM:557000
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Supraventricular tachycardia, High-output congestive h...	ORPHA:423
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Immunodeficiency 68	Delayed umbilical cord separation, Abscess, B lymphocytopenia, Abnormal natural killer cell count...	OMIM:612260
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Hydrops fetalis, Cleft palate	ORPHA:85166
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill...	OMIM:300952
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nodular regenerative hyperplasia of liver, Macular edema, Depression, Abnormality of the hepatic ...	ORPHA:247691
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Greenberg Dysplasia	Bone marrow hypocellularity, Tracheal calcification, Hepatosplenomegaly, Large placenta, Increase...	OMIM:215140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology	OMIM:616910
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do...	OMIM:220210
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Necrotizing Enterocolitis	Hypotension, Shock, Ascites, Abnormal heart morphology, Leukocytosis, Bradycardia, Thrombocytopen...	ORPHA:391673
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Stillbirth, Atrial septal defect, Ventricular septal defect	OMIM:263630
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Porphyria Variegata	Ileus, Anemia, Tachycardia, Hypertension, Hepatocellular carcinoma	ORPHA:79473
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Breast hypoplasia, Enlarged polycystic ovaries, Incr...	ORPHA:785
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy	ORPHA:159
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Aggressive behavior, Hepat...	OMIM:301066
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Recurrent bronchitis, Decreased proportion of class-switched...	OMIM:607594
Bohring-Opitz Syndrome	Optic atrophy, Cholelithiasis, Annular pancreas, Cardiomegaly, Retinal atrophy, Coloboma	ORPHA:97297
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Premature birth	OMIM:616651
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Median cl...	ORPHA:40366
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ...	OMIM:615996
Hereditary Coproporphyria	Tachycardia, Small intestinal dysmotility, Hepatocellular carcinoma	ORPHA:79273
Sirenomelia	Anal atresia, Tracheoesophageal fistula	ORPHA:3169
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cranioectodermal Dysplasia 2	Polysplenia, Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial septal defe...	OMIM:613610
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,...	ORPHA:363705
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Bicornuate uterus, Decreased skull ossification	OMIM:263210
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Steinfeld Syndrome	Iris coloboma, Absent gallbladder, Retinal coloboma	OMIM:184705
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus...	OMIM:146255
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Inflammation of the large intestine, Thrombocytosis, Leukocytosis, B lymphocytopeni...	OMIM:619281
Basel-Vanagaite-Smirin-Yosef Syndrome	Aggressive behavior, Cholelithiasis, Hypospadias, Male urethral meatus stenosis	ORPHA:464738
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ...	ORPHA:392
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Bronchiectasis, In...	OMIM:150550
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism	ORPHA:1756
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenomegaly, Hepato...	OMIM:263700
Renal Nutcracker Syndrome	Renal artery stenosis, Syncope, Orthostatic hypotension, Anemia, Tachycardia	ORPHA:71273
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Abnormal pul...	ORPHA:567
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Atrial septal defect, Polyhydramnios, Hydrops fetalis, Cleft palate	OMIM:616546
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Pulmonary edema, Gastritis, Prolonged QT interval, ...	ORPHA:31826
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Achondrogenesis, Type Ia	Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Protruding tongue, ...	OMIM:200600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:261243
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Attention deficit hyperactivity disorder, Biliary atresia, Elevated circulating creatine kinase c...	ORPHA:565899
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Polyhydramnios, Thrombocytopenia, Ventricular arrhythmia, High palate, Pat...	OMIM:620475
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Chromosome 5Q12 Deletion Syndrome	Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri...	OMIM:615668
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypocalcemia, Hypoparathyroidism, Aplas...	ORPHA:2237
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short uvula, Ascites, High palate, Hydrops fetalis, Cleft palate	OMIM:614091
Short Qt Syndrome 7	Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death	OMIM:620231
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Atrial septal defect, Dextrocardia, Neutropenia, Anemia	OMIM:618067
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Medial calcification of large arteries, Congestive heart failure, Lymphopen...	ORPHA:391487
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Increa...	OMIM:618268
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Ventricular septal defect, Atrial septal defect, Patent ...	OMIM:620024
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Colitis, Achalasia, B lymphocytopenia, Celia...	OMIM:618969
Tyshchenko Syndrome	Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pulmonic stenosis, Premature birth	OMIM:615102
Donnai-Barrow Syndrome	Iris coloboma, Bicornuate uterus, Retinal detachment, Retinal dystrophy	OMIM:222448
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia, Patent d...	ORPHA:290
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Fraser Syndrome 3	Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Tracheal atresia, Sonographic non-visualized...	OMIM:617667
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Schneckenbecken Dysplasia	Polyhydramnios, Stillbirth, Cleft palate, Nonimmune hydrops fetalis	OMIM:269250
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Bradycardia, Pulmonary arterial hypertension, Megaloblastic anemia, Thrombocytopenia...	OMIM:277400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Fetal distress, Bilateral fetal pyelectasis, Breech presentation, Atrial septal defect, Polyhydra...	OMIM:300868
Li-Campeau Syndrome	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Yunis-Varon Syndrome	High, narrow palate, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal...	ORPHA:3472
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, Double outlet right ventricle, Atrial septal d...	OMIM:618223
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Serkal Syndrome	Oligohydramnios, Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s...	OMIM:137940
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Tetralogy of Fallot, Ventricular septal defect, Tracheoes...	OMIM:107480
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Secundum atrial septal defect, Fetal distress, Tetralogy of Fa...	OMIM:612562
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Single umbilical artery, Ventricular septal defect	ORPHA:2772
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Premature birth, Single umbilical artery, Ventricular septal defect	ORPHA:2256
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect	OMIM:602501
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Intestinal malrotation, Anomalous pulmonary venous retu...	OMIM:619657
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho...	OMIM:108950
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Recurrent gastroenteritis, Gastrointestinal inflammation, T...	ORPHA:39812
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Recombinant Chromosome 8 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe...	OMIM:179613
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ...	OMIM:258900
Ring Chromosome 13 Syndrome	Bifid scrotum, Retinoblastoma, Ambiguous genitalia, Urogenital sinus anomaly, Abnormal retinal mo...	ORPHA:96176
8Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Oligohydramnios, Complete atrioventricu...	ORPHA:508488
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent bronchitis, B lymphocytopenia	OMIM:612692
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618330
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen...	OMIM:169400
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Cholera	Hypovolemic shock, Hypotension, Achlorhydria, Tachycardia, Dehydration, Premature birth	ORPHA:173
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect	OMIM:618901
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Genitopalatocardiac Syndrome	Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect	OMIM:231060
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Myocardial infarction, Coronary artery stenosis	OMIM:615812
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Hadziselimovic Syndrome	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect	OMIM:612946
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Stillbirth, Tetralogy of Fallot, Right aortic arch, Sci...	OMIM:608978
Amed Syndrome, Digenic	Attention deficit hyperactivity disorder, Hypoplasia of the uterus	OMIM:619151
Omodysplasia 2	Uterus didelphys, Cryptorchidism, Labial hypoplasia, Micropenis, Hypospadias, Clitoral hypoplasia	OMIM:164745
Kagami-Ogata Syndrome	Splenomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, P...	OMIM:608149
Brugada Syndrome 6	Cardiac arrest, ST segment elevation, Ventricular fibrillation	OMIM:613119
Triploidy	Iris coloboma, Abnormality of the gallbladder, Cryptorchidism, Decreased skull ossification, Ambi...	ORPHA:3376
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Septate vagina, Absent gallbladder, Decreased calvarial ossification, Micropenis	OMIM:617925
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Cleft palate, Nonimmune hydrops fetalis	OMIM:618265
46,Xy Sex Reversal 4	Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Incr...	OMIM:154230
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,...	ORPHA:90793
Activated Pi3K-Delta Syndrome	Splenomegaly, Abnormal intestine morphology, Intestinal lymphoid nodular hyperplasia, B lymphocyt...	ORPHA:397596
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatosple...	ORPHA:2072
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Left ventricular hypertrophy, Carotid artery stenos...	ORPHA:31150
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Duodenal atresia, Atrial reent...	OMIM:270100
Steinert Myotonic Dystrophy	Male hypogonadism, Depression, Cholelithiasis, Elevated circulating hepatic transaminase concentr...	ORPHA:273
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun...	ORPHA:3427
46,Xx Gonadal Dysgenesis	Osteopenia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Increased circula...	ORPHA:243
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Absent vas deferens, Polydipsia, Abnorma...	ORPHA:93111
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Reduced bone mineral d...	ORPHA:90796
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Cholestasis, Progressive Familial Intrahepatic, 5	Ascites, Pleural effusion, Nonimmune hydrops fetalis	OMIM:617049
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive he...	ORPHA:280365
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk...	ORPHA:508542
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Periorbital edema, I...	OMIM:618048
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Sinus tachycardia, Biventricular hypertrophy, Pulmonary artery stenosis, ...	OMIM:620504
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Single umbilical artery, Ventricular septal defect	OMIM:617635
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618974
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology	ORPHA:247768
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Teebi Hypertelorism Syndrome 1	Coronal craniosynostosis, Sagittal craniosynostosis, Shawl scrotum, Bicornuate uterus, Hydrocele ...	OMIM:145420
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:618329
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Coffin-Siris Syndrome 7	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Single u...	OMIM:618027
Marfan Syndrome	Aortic regurgitation, High, narrow palate, Aortic root aneurysm, Aortic dissection, Pulmonary art...	ORPHA:558
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomeg...	ORPHA:1655
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Reduced C-peptide level, Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Blomstrand Lethal Chondrodysplasia	Protruding tongue, Coarctation of aorta, Polyhydramnios, Hydrops fetalis, Premature birth	ORPHA:50945
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Large placenta, Polyhydramnios, Ventricular septal defect	ORPHA:254534
Plague	Hypotension, Inflammation of the large intestine, Splenomegaly, Ileitis, Arrhythmia, Enterocoliti...	ORPHA:707
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension	ORPHA:43116
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopa...	OMIM:309801
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ...	OMIM:618870
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi...	OMIM:616564
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ...	OMIM:618494
Tatton-Brown-Rahman Syndrome	Fetal distress, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, Atrial ...	OMIM:615879
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Denys-Drash Syndrome	Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat...	OMIM:194080
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, P...	OMIM:610733
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Pentalogy Of Cantrell	Hypospadias, Absent gallbladder, Polysplenia	ORPHA:1335
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Norrie Disease	Self-injurious behavior, Optic atrophy, Uterine rupture, Cryptorchidism, Irritability, Abnormal v...	ORPHA:649
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Alg3-Cdg	Cardiomyopathy, Neural tube defect	ORPHA:79321
Congenital Myopathy 22B, Severe Fetal	Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati...	OMIM:620369
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia	OMIM:300712
Hyperthyroidism, Nonautoimmune	Tachycardia, Premature birth	OMIM:609152
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Au...	OMIM:615607
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia, Micropenis, Hypospadias	ORPHA:163979
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:1913
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Anal canal squamous carcinoma, B lymphocytopenia	ORPHA:217390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v...	OMIM:614643
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi...	OMIM:301068
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocy...	OMIM:208085
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Ventricular septal defect, Double outlet right ventricle, Thrombocytopenia, Polyhydra...	OMIM:301056
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Gastroesophageal reflux, Hypertension, Orthostatic hypotension	OMIM:223900
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Single umbilical artery, ...	ORPHA:329224
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Patent ductus arteriosus, Echogenic intracardiac focus, Ventricular septal...	OMIM:617751
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular...	OMIM:609942
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Trisomy 8P	Micropenis, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Cryptorchidism	ORPHA:264450
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Pu...	OMIM:134780
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect	ORPHA:1166
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Splenomegaly, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Pa...	OMIM:614576
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:500159
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Depression, Emotional lability, Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Delayed ossification of carpal bones, Chordee, Delayed tarsal os...	OMIM:140000
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect	OMIM:618142
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Early ossification of capital femoral epiphyses, Retinal degeneration, Pancreat...	OMIM:208500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Portal hypertension, Patent foramen oval...	OMIM:620005
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy...	ORPHA:98855
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,...	ORPHA:91495
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Persistence of hemoglo...	OMIM:619769
Familial Dysautonomia	Tachycardia, Gastroesophageal reflux, Hypertension, Orthostatic hypotension	ORPHA:1764
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus	OMIM:191830
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Coarctation of aorta, Prolonged QT interval, Tachycardia, High palate	ORPHA:1772
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Coronary arter...	ORPHA:36913
King-Denborough Syndrome	Breech presentation, Decreased fetal movement, Ventricular septal defect	OMIM:619542
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Thickened nuchal s...	ORPHA:3071
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Nonimmune hydrops...	ORPHA:79277
Niemann-Pick Disease Type C	Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Foam cells, Hydrops fetalis, Bone-marro...	ORPHA:646
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Peters-Plus Syndrome	Iris coloboma, Retinal coloboma, Cryptorchidism, Biliary tract abnormality, Hypoplastic labia maj...	OMIM:261540
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co...	ORPHA:3097
Acute Intermittent Porphyria	Pseudobulbar paralysis, Ileus, Tachycardia, Hypertension, Hepatocellular carcinoma	ORPHA:79276
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Lymphopenia, Pancytopenia, Leukopenia, Increased nuchal translucency, Ve...	OMIM:620654
Braddock-Carey Syndrome 1	Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect	OMIM:619980
Trisomy 10P	Rectovaginal fistula, Dysphagia, Absent gallbladder	ORPHA:171929
Tetrasomy 9P	Inappropriate behavior, Absent gallbladder, Cryptorchidism, Biliary atresia, Hyperactivity, Oligo...	ORPHA:3310
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic...	OMIM:618419
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Multiple Pterygium Syndrome, Escobar Variant	High palate, Hydrops fetalis, Cleft palate, Decreased fetal movement	OMIM:265000
Ventriculomegaly With Cystic Kidney Disease	Fetal pericardial effusion, Polyhydramnios, Premature birth, Ventricular septal defect	OMIM:219730
Digeorge Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun...	OMIM:188400
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Macular dystrophy, Labial hypoplasia, Bicornuate uterus, Retinal dystrophy	ORPHA:140952
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat...	ORPHA:100924
Prune Belly Syndrome	Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Patent duc...	ORPHA:2970
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ...	ORPHA:98863
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula	ORPHA:309246
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Esophagitis, Lymphocytosis, Decreased proportion of class-switched ...	OMIM:619652
Legius Syndrome	Acute monocytic leukemia, Mitral valve prolapse, Paroxysmal atrial tachycardia, Desmoid tumors, P...	ORPHA:137605
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc...	ORPHA:2869
Trisomy X	Atrial septal defect, Ventricular septal defect	ORPHA:3375
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Immunodeficiency 43	Reduced natural killer cell count, Bronchiectasis, Lung abscess, B lymphocytopenia	OMIM:241600
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Bronchiectasis, Pancytopenia, Villous at...	OMIM:614700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Small placenta, Increased nuchal translucency, Short umbilical cord, Decreas...	OMIM:208150
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Patent foramen ovale, Ventricular septal defect, Atrial septal defec...	OMIM:609053
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Ventricular septal defect	OMIM:619123
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:301039
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Ventricular septal defect	OMIM:616037
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth	OMIM:602522
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Edema, Ventricular septal defect	OMIM:618348
Smith-Lemli-Opitz Syndrome	Small scrotum, Cryptorchidism, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypospadias, Precociou...	OMIM:270400
Aneurysm Of Sinus Of Valsalva	Stroke, Bacterial endocarditis, Dilatation of the sinus of Valsalva, Edema	ORPHA:1054
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage, Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme...	OMIM:609049
Myopathy With Extrapyramidal Signs	Leukocytosis, Splenomegaly, Ventricular septal defect	OMIM:615673
Pseudotrisomy 13 Syndrome	Micropenis, Cyclopia, Bicornuate uterus, Cryptorchidism	OMIM:264480
Microsporidiosis	Hepatitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Biliary tract abnorma...	ORPHA:2552
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp...	OMIM:190685
Zttk Syndrome	Craniosynostosis, Optic atrophy, Absent gallbladder	OMIM:617140
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Gastroesophageal reflux, Reduced left ventricular ejection fraction, Palp...	ORPHA:254892
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	ORPHA:562639
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Iris coloboma, Absent gallbladder	ORPHA:3186
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Woods Syndrome	Ventricular septal defect	OMIM:615236
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ...	ORPHA:254346
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetalis, Increased fecal porphyrin, Hemoly...	ORPHA:95159
Sarcoidosis	Chylothorax, Parotitis, Leukopenia, Portal hypertension, Pleural effusion, Joint swelling, Enlarg...	ORPHA:797
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Male pseudohermaph...	ORPHA:2075
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:603387
Ogden Syndrome	Arrhythmia, Cardiogenic shock, Ventricular septal defect	ORPHA:276432
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Woodhouse-Sakati Syndrome	Osteopenia, Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimula...	ORPHA:3464
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus, Supernumerary nipple	ORPHA:1521
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Microcephaly-Capillary Malformation Syndrome	Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:614261
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Diabetic Embryopathy	Tetralogy of Fallot, Transposition of the great arteries, Single umbilical artery, Ventricular se...	ORPHA:1926
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Ventricular septal defect	OMIM:615630
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Increased density of long bones, Splenopancreatic fusion, Sclerosis o...	OMIM:269150
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:477817
Contractural Arachnodactyly, Congenital	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At...	OMIM:121050
Gitelman Syndrome	Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia	OMIM:263800
Joubert Syndrome 18	Ventricular septal defect	OMIM:614815
Syndromic Diarrhea	Aortic regurgitation, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Splenomegaly, ...	ORPHA:84064
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Abnormal lymphocyte morphology, Recurrent bronchitis, Severe B lymphocytopenia, Auto...	ORPHA:293978
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Small scrotum, Osteopenia, Elevated circulating hepatic transaminase concentrati...	OMIM:613658
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept...	OMIM:612582
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Pagod Syndrome	Optic atrophy, Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnor...	ORPHA:991
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept...	ORPHA:2519
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Lymphedema, Ascites, Splenomegaly, Ventricular septal defect, Thickened nuchal skin fold, Polyhyd...	OMIM:235255
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, Atrial septal defect, Thickened nuchal skin fold, Ventricular septal de...	OMIM:220500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:221900
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Polydipsia, Cholestasis, Ascites, Hepatosplenomegaly, Hype...	ORPHA:731
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer...	OMIM:618500
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Agammaglobulinemia, X-Linked	Cor pulmonale, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia, Bronchiectasis, Hepatoc...	OMIM:300755
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Decreased calvarial ossification	OMIM:619879
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at...	ORPHA:2255
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Steroid-responsive anemia, Reticulocytopenia, Anemi...	OMIM:613309
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Cryptorchidism, Abnormal spleen morphology, Aplasia/...	ORPHA:2470
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
X-Linked Intellectual Disability, Nascimento Type	Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Patent foramen ovale, Ventricular septal d...	ORPHA:163956
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Craniosynostosis, Rectovaginal fistula, ...	OMIM:300707
Carpenter Syndrome 1	Polysplenia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries,...	OMIM:201000
Meckel Syndrome, Type 7	Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert...	OMIM:267010
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep...	ORPHA:1727
Combined Oxidative Phosphorylation Deficiency 15	Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
X Small Rings	Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelect...	ORPHA:96201
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Seckel Syndrome 9	Polyhydramnios, Atrial septal defect, Decreased fetal movement, Ventricular septal defect	OMIM:616777
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract	OMIM:600145
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Scalp-Ear-Nipple Syndrome	Bifid uvula, Congestive heart failure, Supraventricular tachycardia, Cardiac myxoma, Palpebral ed...	OMIM:181270
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of...	ORPHA:284339
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Ventricular sept...	ORPHA:261250
3P25.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	ORPHA:435638
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Osteopenia, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia,...	ORPHA:2232
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect	OMIM:612938
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Cholecystitis, Intermittent jaundice, Biliary tract obstruction,...	ORPHA:100086
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Absent gallbladder, Sagittal craniosynostosis, Dysphagia, Optic nerve hypoplasia	ORPHA:500150
Yunis-Varon Syndrome	Pyloric stenosis, Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal d...	OMIM:216340
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Ovarian cyst, Aplasia of...	OMIM:614527
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Renal Agenesis	Oligohydramnios, Hypertension, Ventricular septal defect	ORPHA:411709
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Fryns Syndrome	Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Alkaptonuria	Prostatitis, Reduced bone mineral density, Black pigment gallstones	ORPHA:56
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Tetralogy of Fallot, Large placenta, Abnormalities of placenta or umbilical...	OMIM:222470
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Emotional lability, Hypokalemia, Osteoporosis	OMIM:219090
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Aplasia/hypoplasia of the uterus, Cryptorchidism, Aggressive behavior, M...	ORPHA:96121
D-Bifunctional Protein Deficiency	Osteopenia, Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:261515
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Hyperactivity, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Woodhouse-Sakati Syndrome	Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ...	OMIM:241080
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular...	OMIM:115470
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Ventricular sep...	OMIM:620454
Heart And Brain Malformation Syndrome	Polyhydramnios, Ventricular septal defect	OMIM:616920
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Vitreous hemorrhage, Remnants of the hyaloid vascular s...	OMIM:620185
Williams-Beuren Syndrome	Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Colonic diverticula, Coronary arte...	OMIM:194050
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Heart murmur, Ventricular septal defect	ORPHA:166035
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Ventricular septal defect, Anemia, Reticulocytopenia, ...	OMIM:227645
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi...	OMIM:618164
Down Syndrome	Secundum atrial septal defect, Polycythemia, Thickened nuchal skin fold, Tetralogy of Fallot, Atr...	ORPHA:870
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:457279
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Acrorenal-Mandibular Syndrome	Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple	OMIM:200980
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:617506
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Autoimmune hemolytic anemia, Ventri...	ORPHA:436252
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Fetal distress, Tricuspid regurgitation, Palpebral edema, Hepatosplenomegal...	OMIM:614866
Short-Rib Thoracic Dysplasia 12	Ascites, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Neonatal death, Polyhydra...	OMIM:269860
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Oligohydramnios, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect	OMIM:620113
Fanconi Anemia, Complementation Group N	Acute myeloid leukemia, Aplastic anemia, Atrial septal defect, Ventricular septal defect	OMIM:610832
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block, Gastroesophageal reflux	OMIM:610131
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria...	OMIM:201750
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect	OMIM:616449
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Cohen Syndrome	Decreased fetal movement, Ventricular septal defect, Neutropenia, Mitral valve prolapse	ORPHA:193
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali...	OMIM:263650
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect	OMIM:616652
Kapur-Toriello Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2328
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Pleural ...	ORPHA:453499
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect	ORPHA:1908
Alagille Syndrome	Telangiectasia of the skin, Hypertension, Atrial septal defect, Ventricular septal defect	ORPHA:52
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Kleefstra Syndrome	Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia, Ventricular septal defect	ORPHA:261494
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Marshall-Smith Syndrome	Anteriorly placed anus, Ventricular septal defect, Premature ventricular contraction, Pulmonary a...	OMIM:602535
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Oligohydramnios, Congenital pulmonary airway malformation, Ventricular septal defect	OMIM:611812
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,...	OMIM:277600
Full Nf2-Related Schwannomatosis	Abnormal optic nerve morphology, Epiretinal membrane, Remnants of the hyaloid vascular system, Dy...	ORPHA:637
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent infection of the gastrointestinal tract, Autoimmune hemolytic anemia, Re...	OMIM:251260
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Accessory sp...	OMIM:249000
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Ventricular septal defect, Neonatal death, Dextrocardia...	OMIM:619534
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:100300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Rectovaginal fistula, Lymphopenia, Hepatosplenomegaly, Recurrent inf...	ORPHA:35078
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614114
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:617159
Familial Adenomatous Polyposis	Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract ...	ORPHA:733
Microphthalmia, Syndromic 2	Iris coloboma, Septate vagina, Cryptorchidism, Retinal detachment, Remnants of the hyaloid vascul...	OMIM:300166
Fryns Syndrome	Ectopic pancreatic tissue, Bifid scrotum, Polysplenia, Cryptorchidism, Shawl scrotum, Bicornuate ...	OMIM:229850
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Fetal ascites, Hypomagnesemia, Decreased response to growth hormone stimul...	OMIM:619503
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Villous atrophy, Decreased proportion of ...	OMIM:619381
Distal Deletion 19P	Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect	ORPHA:96129
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Ellis Van Creveld Syndrome	Acute leukemia, Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus to...	ORPHA:289
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa...	OMIM:620663
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,...	OMIM:610759
Wolf-Hirschhorn Syndrome	Optic atrophy, Iris coloboma, Abdominal situs inversus, Abnormality of the gallbladder, Retinopat...	ORPHA:280
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy...	ORPHA:91347
Mosaic Trisomy 16	Abnormal heart morphology, Large placenta, Ventricular septal defect, Single umbilical artery, At...	ORPHA:1708
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Hermansky-Pudlak Syndrome 6	Ocular albinism, Perineal fistula, Endometriosis, Macular hypoplasia, Absent foveal reflex	OMIM:614075
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Bronchiectasis, Neutropenia, B lymphocytopenia	OMIM:601495
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Cryptorchidism, Reti...	ORPHA:353281
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Chops Syndrome	Splenomegaly, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Anomalou...	OMIM:616368
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d...	ORPHA:209905
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Thauvin-Robinet-Faivre Syndrome	Pedal edema, Transient neutropenia, Mitral valve prolapse, Ventricular septal defect	OMIM:617107
Acromelic Frontonasal Dysostosis	Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomega...	OMIM:274000
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Optic atrophy, Clitoral hypertrophy, Iris coloboma, Abnormality of the g...	ORPHA:818
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Osteolytic def...	OMIM:130050
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect	OMIM:615503
Currarino Syndrome	Septate vagina, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Wolf-Hirschhorn Syndrome	Precocious puberty, Iris coloboma, Accessory spleen, Cryptorchidism, Biliary tract abnormality, A...	OMIM:194190
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Oligohydramnios, Ventricular septal defect, Polyhydr...	ORPHA:464311
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Cryptorchidism, Hypoplastic nipples, Hypoplasia of penis	ORPHA:3138
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Ectopic anus, Esophageal atresia, Bifid tongue, Anal atresia, Hydrops fetalis	ORPHA:93271
Encephalocraniocutaneous Lipomatosis	Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:613001
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia...	OMIM:181450
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Ventricular septal defect, Cardiomegaly, Abnormal placenta morphology, Patent du...	ORPHA:96191
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:300963
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Osteopenia, Decreased circulating iron concentration, Increased circulating p...	ORPHA:438213
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect	ORPHA:444072
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Ventricular septal defect,...	OMIM:608328
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst...	ORPHA:572333
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Polysplenia, Splenomegaly, Ventricular septal defect, Anemia, Premature birth	OMIM:619418
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias	OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Peters Plus Syndrome	Optic atrophy, Iris coloboma, Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hyp...	ORPHA:709
Codas Syndrome	Atrioventricular canal defect, Polyhydramnios, Atrial septal defect, Ventricular septal defect	OMIM:600373
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Hypoplastic right heart...	OMIM:616894
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mi...	OMIM:143095
Fraser Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias	OMIM:219000
Cowden Syndrome	Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol...	ORPHA:201
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou...	ORPHA:2052
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ...	OMIM:617063
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Biliar...	OMIM:268300
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Noonan Syndrome 1	Chylothorax, Juvenile myelomonocytic leukemia, Lymphedema, Hypertrophic cardiomyopathy, Ventricul...	OMIM:163950
Coffin-Siris Syndrome 4	Mitral atresia, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Pulmon...	OMIM:614609
Chime Syndrome	Acute leukemia, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transpos...	ORPHA:3474
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, Aortopulmonary window, Pulmonary arterial hypertension, Ventricular septal defect	OMIM:620025
Jacobsen Syndrome	Aortic valve stenosis, Bone marrow hypocellularity, Hypoplastic left heart, Ventricular septal de...	ORPHA:2308
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Oligohydramnios, Ventricular septal defect, Patent d...	ORPHA:464306
Okamoto Syndrome	Bifid uterus, Splenomegaly	ORPHA:2729
Neu-Laxova Syndrome 1	Generalized edema, Small placenta, Short umbilical cord, Patent foramen ovale, Ventricular septal...	OMIM:256520
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat...	ORPHA:2473
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Caesarian section, Ventricular septal defect	OMIM:619575
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Simpson-Golabi-Behmel Syndrome	Cardiomyopathy, Polysplenia, Bundle branch block, Polyhydramnios, Splenomegaly, Ventricular septa...	ORPHA:373
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated...	OMIM:619525
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Arrhythmia, Atrial...	OMIM:218040
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Transient neutropenia, Mitral valve prolapse, Ventricular se...	ORPHA:500095
Loeys-Dietz Syndrome	Craniosynostosis, Uterine rupture	ORPHA:60030
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus	OMIM:154400
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se...	ORPHA:466791
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Granuloma, Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral v...	ORPHA:363700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus...	OMIM:157800
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Tricuspid valve prolapse, Palpebral edema, Pa...	ORPHA:261337
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Lacrimal gland aplasia, Abnormal salivary gland morphology, Dysphagia, Bicornuate...	ORPHA:2363
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a...	ORPHA:1519
Myhre Syndrome	Aortic valve stenosis, Ventricular septal defect, Atrial septal defect, Pericardial effusion, Hyp...	OMIM:139210
Holoprosencephaly 2	Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc...	OMIM:157170
Limb Body Wall Complex	Amniotic constriction ring, Abnormal heart morphology, Abnormal insertion of umbilical cord, Shor...	ORPHA:2369
Robinow Syndrome	Abnormal heart morphology, Ventricular septal defect, Pulmonary valve atresia, Atrial septal defe...	ORPHA:97360
Neuroocular Syndrome 1	Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Remnants of the hyaloid vascul...	OMIM:619539
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypokalemia, Hypospadias, Osteolysis	ORPHA:286
Townes-Brocks Syndrome	Iris coloboma, Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Chorioretina...	ORPHA:857
Alobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Neural tube defect	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal heart morphology, Hydrocephalus, Neural tube defect	ORPHA:220386
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect	OMIM:618748
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Cephalohematoma, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:620558
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Polyhydramnios, P...	ORPHA:3047
Diets-Jongmans Syndrome	Polyhydramnios, Breech presentation, Ventricular septal defect	OMIM:618846
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Tetralogy of Fallot, Muscular ventricular septal defect, Oligohydramnios, Patent foramen ovale, V...	OMIM:210710
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Aggressive behavior, Compulsive beha...	OMIM:135900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Cryptorchidism, Aggr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Cryptorchidism, Aggr...	ORPHA:353277
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, ...	ORPHA:1465
Mosaic Trisomy 20	Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect	ORPHA:1724
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Oligohydramnios, Ventricular septal defect	OMIM:608670
Viss Syndrome	Coronary sinus enlargement, Fetal distress, Hypereosinophilia, Right ventricular hypertrophy, Mit...	OMIM:619472
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect	OMIM:619895
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Decreased calvarial ossification, Aplasia of the uterus, Anteriorl...	OMIM:276820
Schinzel-Giedion Syndrome	Abnormal heart morphology, Neural tube defect, Umbilical hernia	ORPHA:798
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:600460
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Polysplenia, Cardiomyopathy, Splenomegaly, Ventricular s...	OMIM:312870
Cerebrocostomandibular Syndrome	Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:117650
Pallister-Hall Syndrome	Precocious puberty, Small scrotum, Secondary growth hormone deficiency, Aplasia/Hypoplasia of the...	ORPHA:672
Cornelia De Lange Syndrome	Abnormality of the uterus, Cryptorchidism, Hypoplastic labia majora, Attention deficit hyperactiv...	ORPHA:199
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect	OMIM:616682
Keutel Syndrome	Hypertension, Pulmonic stenosis, Ventricular septal defect	OMIM:245150
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619268
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Classical Ehlers-Danlos Syndrome	Osteopenia, Cervical insufficiency, Uterine prolapse	ORPHA:287
Johanson-Blizzard Syndrome	Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Situs inversus totalis, Splenomegal...	OMIM:243800
Aneurysm-Osteoarthritis Syndrome	Osteoporosis, Left ventricular hypertrophy, Uterine prolapse	ORPHA:284984
Loeys-Dietz Syndrome 3	Osteopenia, Cystocele, Uterine prolapse, Left ventricular hypertrophy, Osteoporosis, Craniosynost...	OMIM:613795
Mowat-Wilson Syndrome	Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Patent ductus arterio...	OMIM:235730
Coffin-Lowry Syndrome	Uterine prolapse	OMIM:303600
Pallister-Killian Syndrome	Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj...	OMIM:601803

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 Sox4

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 Sox4.

No publications found that use IMPC mice or data for Sox4.

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MGI Allele	Allele Type	Produced
Sox4^{tm456048(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Sox4^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: Sox4 MGI:98366

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E9.5

X-ray

X-ray

Human diseases caused by Sox4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data