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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
abnormal retina vasculature morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	2.85×10^-06
abnormal bone structure	Sox4^em1(IMPC)Mbp	HET	Early adult	8.97×10^-05
abnormal uterus morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina blood vessel morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	4.62×10^-07
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
decreased brain size	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged gallbladder	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal neural tube morphology	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged uterus	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating alkaline phosphatase level	Sox4^em1(IMPC)Mbp	HET	Early adult	2.39×10^-05
abnormal gallbladder morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
decreased body length	Sox4^em1(IMPC)Mbp	HET	Early adult	2.63×10^-09
preweaning lethality, complete penetrance	Sox4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal neural tube closure	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal hindbrain development	Sox4^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal brain morphology	Sox4^em1(IMPC)Mbp	HET	Early adult	0.00
increased freezing behavior	Sox4^em1(IMPC)Mbp	HET	Early adult	7.11×10^-12
persistence of hyaloid vascular system	Sox4^em1(IMPC)Mbp	HET	Early adult	5.47×10^-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 (1303 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, Patent ductus arteriosus, Atrial septal defect, V...	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	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Maturity-onset diabetes of the young, Type II diabetes mellitus	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	Type II diabetes mellitus, Transient neonatal diabetes mellitus	OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:256450
Fetal Parvovirus Syndrome	Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr...	ORPHA:295
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis, Anemia	OMIM:236750
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Anemia, Hydrops fet...	ORPHA:3405
Long Qt Syndrome 3	Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib...	OMIM:603830
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Congenital Heart Block	Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,...	ORPHA:60041
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Indomethacin Embryofetopathy	Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect...	ORPHA:1909
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu...	ORPHA:45452
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Splenomegaly...	OMIM:619462
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia	OMIM:240900
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Transaldolase Deficiency	Hydrops fetalis, Anemia, Coarctation of aorta, Hepatosplenomegaly, Thrombocytopenia, Edema, Atria...	ORPHA:101028
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Single umbilical artery, Atrioventricular canal defect, Aganglionic mega...	ORPHA:210122
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Single umbilical artery, Redu...	OMIM:613426
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge...	ORPHA:293964
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl...	ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells	OMIM:606762
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Methimazole Embryofetopathy	Polyhydramnios, Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarct...	ORPHA:1923
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent...	ORPHA:2041
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh...	OMIM:613424
Nuchal Bleb, Familial	Stillbirth, Hydrops fetalis, Fetal cystic hygroma	OMIM:257350
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Tricuspid...	ORPHA:2414
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Atrial Fibrillation, Familial, 15	Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde...	OMIM:615770
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Polyhydramnios, Anemia, Hydrops fetalis, Pericarditis, Splenomegaly, Ab...	ORPHA:163596
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit...	OMIM:619433
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Tracheoesophageal fistula, Abnormality of the spleen, Intesti...	ORPHA:93941
Delpire-Mcneill Syndrome	Ventricular septal defect, Dysphagia, Tracheoesophageal fistula	OMIM:619083
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal...	ORPHA:860
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ...	ORPHA:90308
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Polyhydramnios, Capillary leak, Lymphedema, Pleural ef...	ORPHA:1041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hydrops fetalis, Vacuolated lymphocytes, High palate, Ascites, Prematur...	OMIM:269920
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, H...	OMIM:617021
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
17Q12 Microduplication Syndrome	Polyhydramnios, Atrial septal defect, Cleft palate, Tracheoesophageal fistula	ORPHA:261272
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor...	ORPHA:1457
Congenital Disorder Of Glycosylation, Type Ih	Decreased fetal movement, Perimembranous ventricular septal defect, Protein-losing enteropathy, A...	OMIM:608104
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Bradycardia, Esophageal varix, Cardiomyopathy, Ascites, Portal h...	OMIM:232500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ...	OMIM:601927
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr...	ORPHA:99105
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia...	OMIM:618815
Mody	Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c...	ORPHA:552
Congenital Tracheal Stenosis	Abnormal tracheobronchial morphology, Abnormal bronchus morphology, Meckel diverticulum, Abnormal...	ORPHA:141127
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta	OMIM:212090
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis, Ab...	ORPHA:90064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune hydrops fetalis...	OMIM:265380
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Fanconi Anemia, Complementation Group B	Aplastic anemia, Single umbilical artery, Esophageal atresia, Tracheoesophageal fistula, Coarctat...	OMIM:300514
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Congenital Disorder Of Glycosylation, Type Ik	Nonimmune hydrops fetalis, Cardiomyopathy, Splenomegaly, Abnormality of the amniotic fluid	OMIM:608540
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Transposition of the great arteries, Esophageal atresia, Dextrocar...	OMIM:314390
Congenital Tracheomalacia	Tracheobronchomalacia, Tracheoesophageal fistula, Abnormal heart morphology, Premature birth, Car...	ORPHA:95430
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef...	OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,...	ORPHA:411593
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Hydrops fetalis, Anemia, Pleural...	ORPHA:846
Lymphatic Malformation 8	Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ...	OMIM:618773
Diffuse Neonatal Hemangiomatosis	Hydrops fetalis, Polyhydramnios, Anemia, Ascites, Premature birth, Thrombocytopenia, Patent ductu...	ORPHA:2123
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Neuraminidase Deficiency	Hydrops fetalis, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenom...	OMIM:256550
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Mungan Syndrome	Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Tricu...	OMIM:611376
Congenital Enterovirus Infection	Myocarditis, Fetal distress, Hydrops fetalis, Anemia, Polyhydramnios, Abnormal macrophage morphol...	ORPHA:292
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve...	ORPHA:401935
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d...	ORPHA:99094
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Scimitar Syndrome	Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati...	ORPHA:185
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent...	OMIM:619290
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis	OMIM:613124
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea...	ORPHA:79084
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Intestinal pseudo-obstruction, Brad...	OMIM:616201
Beta-Thalassemia	Irritability, Hepatomegaly, Abnormality of iron homeostasis, Reduced bone mineral density, Cholel...	ORPHA:848
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Fliedner-Zweier Syndrome	Hypoplastic aortic arch, High palate, Tracheoesophageal fistula, Anal atresia, Bicuspid aortic va...	OMIM:620511
Mitochondrial Complex I Deficiency, Nuclear Type 35	Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension	OMIM:619003
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card...	ORPHA:263297
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Dysphagia	OMIM:255100
Congenital Contractural Arachnodactyly	Aortic aneurysm, High palate, Tracheoesophageal fistula, Intestinal malrotation, Mitral valve pro...	ORPHA:115
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa...	OMIM:617300
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Fetal Gaucher Disease	Decreased fetal movement, Stillbirth, Hydrops fetalis, Pancytopenia, Neonatal death, Thrombocytop...	ORPHA:85212
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Stillbirth, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic ste...	OMIM:615415
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Hypertension, Patent ductus arteriosus, Tachycardia, Atrial septal defect,...	OMIM:613870
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr...	OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Generalized ed...	OMIM:617478
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Dextrocardia, Pancytopenia, Glossitis, Megaloblastic anemia, High palate, Tracheoesophage...	OMIM:277380
Timothy Syndrome	Single umbilical artery, Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arte...	OMIM:601005
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu...	ORPHA:766
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Double Outlet Right Ventricle	Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Intestinal malrotat...	ORPHA:3426
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, B lymphocy...	OMIM:619705
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology	ORPHA:2516
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Anorexia, Cirrhosis, Jaundice, Elevated circulating hepatic transamina...	ORPHA:65682
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ...	ORPHA:1686
Absence Of The Pulmonary Artery	Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale...	ORPHA:980
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, High palate, Pulmo...	OMIM:617877
Mulibrey Nanism	Congestive heart failure, Hydrops fetalis, Ascites, Pericardial constriction, Myocardial fibrosis...	OMIM:253250
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Gastroesophageal reflux, Coarctation of aorta, Secundum...	OMIM:600987
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular exudate, Reduced bone mineral density, Retinal neovascularization...	ORPHA:891
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Hydrops fetalis, Splenomegaly	ORPHA:2204
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Patent ductus arteriosus	ORPHA:77298
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,...	ORPHA:276580
Feingold Syndrome 1	Decreased fetal movement, Gastrointestinal atresia, Tricuspid atresia, Polyhydramnios, Esophageal...	OMIM:164280
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Elevated pulmonary artery pressure, Congestive heart failu...	ORPHA:1329
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Left-to-right shunt...	ORPHA:363444
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct...	OMIM:607941
Coproporphyria, Hereditary	Hypertension, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, Increased ...	OMIM:121300
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Chondrodysplasia, Blomstrand Type	Stillbirth, Polyhydramnios, Hydrops fetalis, Preductal coarctation of the aorta, Premature birth,...	OMIM:215045
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu...	ORPHA:3092
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th...	ORPHA:49827
Esophageal Atresia	Polyhydramnios, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morph...	ORPHA:1199
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperhidrosis, Hyperinsulinemic...	ORPHA:276608
Lymphatic Malformation 12	Polyhydramnios, Lymphedema, Fetal pericardial effusion, Fetal pleural effusion, Neonatal death, N...	OMIM:620014
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death	OMIM:618839
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Snijders Blok-Campeau Syndrome	Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, High palate	OMIM:618205
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis, Neonatal death	OMIM:618835
Ulnar Agenesis And Endocardial Fibroelastosis	Hydrops fetalis, Neonatal death, Endocardial fibroelastosis	OMIM:276822
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Vacterl/Vater Association	Single umbilical artery, Polyhydramnios, Anorectal anomaly, Abnormal cardiac septum morphology, T...	ORPHA:887
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl...	ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Nonimmune hydrops fetalis, Premature birth, Anemia	OMIM:618838
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Polyhydramnios, Esophageal varix, Ascites, Portal hypertension, Hepatos...	ORPHA:367
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c...	ORPHA:75565
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr...	OMIM:611878
Hyperbiliverdinemia	Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis	OMIM:614156
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu...	OMIM:620609
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Tracheomalacia, Tracheoesophageal fistula, Coarctation of aorta, Ventricular sep...	ORPHA:268249
Snakebite Envenomation	Hypotension, Cerebral ischemia, Angioedema, Cardiogenic shock, Epistaxis, Thrombocytopenia, Intra...	ORPHA:449285
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Achondrogenesis, Type Ib	Stillbirth, Polyhydramnios, Breech presentation, Hydrops fetalis, Edema	OMIM:600972
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutr...	OMIM:616738
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, High palate, Decrea...	OMIM:618804
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Anemia, Intestinal perforation, Tracheoesophageal fistula, Thrombocy...	ORPHA:537
Congenital Disorder Of Glycosylation, Type Il	Hydrops fetalis, Ascites, Fetal skin edema, Pericardial effusion, Splenomegaly, Decreased fetal m...	OMIM:608776
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul...	ORPHA:79644
Axial Mesodermal Dysplasia Spectrum	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ...	ORPHA:1834
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia	OMIM:606528
Combined Oxidative Phosphorylation Deficiency 59	Attention deficit hyperactivity disorder, Retinal degeneration, Hyperalaninemia, Cholelithiasis	OMIM:620646
Heart Defects, Congenital, And Other Congenital Anomalies	Single umbilical artery, Perimembranous ventricular septal defect, Transposition of the great art...	OMIM:600001
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Nemaline Myopathy 9	Polyhydramnios, Ventricular septal defect, Breech presentation, Fetal akinesia sequence	OMIM:615731
Variegate Porphyria	Tachycardia, Increased fecal protoporphyrin concentration	OMIM:176200
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hydrops fetalis, Abnormal heart valve morphology, Vacuolated lymphocyte...	OMIM:230500
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Eisenmenger Syndrome	Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig...	ORPHA:97214
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Single umbilical artery, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic...	OMIM:616897
Gaucher Disease Type 1	Osteopenia, Anorexia, Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelith...	ORPHA:77259
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Hypertrophic cardiomyopathy, Dysphagia, Patent ductus arteriosus, Ventricular septal...	OMIM:616276
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hydrops fetalis, Anemia of inadequate production, Hypertrophic cardio...	OMIM:613673
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Submucous clef...	OMIM:619227
Microgastria-Limb Reduction Defect Syndrome	Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Truncus arterios...	ORPHA:2538
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276556
Beta-Thalassemia Intermedia	Decreased liver function, Osteopenia, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Chol...	ORPHA:231222
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Sialidosis Type 2	Ascites, Hydrops fetalis, Splenomegaly, Pedal edema	ORPHA:87876
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia	OMIM:605479
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Lethal Congenital Contracture Syndrome 10	Narrow palate, Hydrops fetalis, Fetal akinesia sequence, High palate, Hypoplasia of the thymus, C...	OMIM:617022
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Noonan Syndrome 12	Polyhydramnios, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect, Su...	OMIM:618624
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Lymphatic Malformation 13	Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi...	OMIM:620244
Czeizel-Losonci Syndrome	High palate, Dextrocardia, Tracheoesophageal fistula, Thickened nuchal skin fold	ORPHA:2437
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo...	OMIM:601186
Combined Oxidative Phosphorylation Deficiency 57	Cardiac arrest, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Fetal...	OMIM:620167
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Schisis Association	Premature birth, Cleft palate, Tracheoesophageal fistula, Anal atresia	ORPHA:63862
Emanuel Syndrome	Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se...	OMIM:609029
Caroli Disease	Anorexia, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale...	OMIM:620519
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration, Cholelithiasis	ORPHA:79278
Thakker-Donnai Syndrome	Transposition of the great arteries, Rectovaginal fistula, Tracheoesophageal fistula, Anal atresi...	ORPHA:1780
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus	OMIM:617516
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu...	ORPHA:26793
Cirrhotic Cardiomyopathy	Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart...	ORPHA:57777
Chromosome 9P Deletion Syndrome	Narrow palate, Perimembranous ventricular septal defect, High, narrow palate, Patent ductus arter...	OMIM:158170
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Abnormality of prenatal development or birth, Sinus b...	ORPHA:101016
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Splenomegaly, Cholelithiasis	OMIM:224100
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Mgat2-Cdg	Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteri...	ORPHA:79329
Opitz Gbbb Syndrome	Tracheomalacia, Aortic root aneurysm, Patent foramen ovale, Ectopic anus, High palate, Tracheoeso...	ORPHA:2745
Fanconi Anemia, Complementation Group D2	Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tracheoesophageal fistula, Bone marr...	OMIM:227646
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar...	OMIM:300257
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Decreased fetal movement	OMIM:253300
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Gastroesophageal reflux, Chylothorax, ...	OMIM:616843
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:249670
Tularemia	Anemia, Pleural effusion, Leukocytosis, Thrombocytopenia, Tachycardia, Cutaneous abscess, Brain a...	ORPHA:3392
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Congenital Fibrinogen Deficiency	Internal hemorrhage, Splenic rupture, Volvulus, Right ventricular hypertrophy, Left ventricular h...	ORPHA:335
Diamond-Blackfan Anemia 6	Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventricular hypertrophy, Pe...	OMIM:612561
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Premature birth, Tachycardia	ORPHA:70587
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Eng-Strom Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:1937
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Neonatal death, Esophageal atresia, Tracheoesophageal fistula	OMIM:619859
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Abnormal cortical bone morphology, Chole...	OMIM:614886
High Altitude Pulmonary Edema	Tachycardia, Pulmonary edema, Leukocytosis	ORPHA:330012
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Emanuel Syndrome	Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se...	ORPHA:96170
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Cardiac-Urogenital Syndrome	Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Accessory spleen, Interrupte...	OMIM:618280
Trisomy 1Q	Hydrops fetalis, Polyhydramnios, Anal atresia, Increased nuchal translucency, Cleft palate, Paten...	ORPHA:261344
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida	ORPHA:2476
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis...	ORPHA:280356
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Unconjugated hyperbilirubinemi...	OMIM:266200
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Neonatal death, Tracheal atresia, Patent ductus arteriosus, Abnormal cardia...	OMIM:601612
Mosaic Trisomy 9	Single umbilical artery, Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal heart valve morp...	ORPHA:99776
Donnai-Barrow Syndrome	Retinal dystrophy, Retinal detachment, Bicornuate uterus, Abnormality of the uterus, Iris coloboma	ORPHA:2143
Fanconi Anemia	Abnormal aortic valve morphology, Anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula,...	ORPHA:84
Immunodeficiency, Common Variable, 13	Fetal distress, Polyhydramnios, Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia	OMIM:616873
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology, Dysphagia	ORPHA:79264
Gm1 Gangliosidosis	Congestive heart failure, Hydrops fetalis, Gastroesophageal reflux, Cardiomyopathy, Abnormal hear...	ORPHA:354
Trisomy 13	High, narrow palate, Hydrops fetalis, Cleft palate, Patent ductus arteriosus, Atrial septal defec...	ORPHA:3378
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Gastroesophageal reflux, Bradycardia	OMIM:617182
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,...	ORPHA:69735
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Partial anomalous pulmonary venous return, Wolff-Parkinson-White syndrome, ...	OMIM:619343
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Furrowed tongue, Anorectal anomaly	ORPHA:1839
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Abnormality of the amniotic fluid, Arrhythmia, Dilated...	OMIM:609015
Ogden Syndrome	Left atrial enlargement, Premature ventricular contraction, Dysphagia, Decreased fetal movement, ...	OMIM:300855
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr...	OMIM:212138
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Atrial flutter, Wolff-Parkinson-White syndrome, Tachyc...	ORPHA:137675
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Incr...	OMIM:232800
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Insulin resistance, Hyperinsulinemia	OMIM:617885
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Esophageal atresia, Tracheoesophageal fistula, Pulmonary artery stenosis...	OMIM:301030
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft pal...	OMIM:153400
Distal Duplication 5Q	Hypospadias, Chorioretinal coloboma, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the ...	ORPHA:96097
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Dysphagia, Tracheoesophageal fistula	ORPHA:142
Relapsing Fever	Anemia, Hypotension, Leukocytosis, Neutrophilia, Leukopenia, Epistaxis, Thrombocytopenia, Tachyca...	ORPHA:91547
Mirizzi Syndrome	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholel...	ORPHA:521219
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Retinal dystrophy, Microvesicular hepatic steatosis, Hypogonadism	OMIM:619273
Achondrogenesis	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:932
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Abnormal tricuspid valve morphology, Abnormal heart morphology, Tachycardia,...	ORPHA:485405
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,...	OMIM:262190
Alg8-Cdg	Abnormality of the gastrointestinal tract, Anemia, Hydrops fetalis, Ascites, Premature birth, Thr...	ORPHA:79325
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Infantile Myofibromatosis	Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula	ORPHA:2591
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov...	OMIM:611705
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Arrhythmia, Atria...	OMIM:249270
Anemia, Congenital Dyserythropoietic, Type Ia	Hydrops fetalis, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells...	OMIM:224120
Gaucher Disease Type 3	Hydrops fetalis, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcificatio...	ORPHA:77261
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis	OMIM:613470
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Female...	OMIM:240300
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin...	ORPHA:97279
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis	OMIM:235700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche	OMIM:616033
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis, Dysphagia	ORPHA:477774
Congenital Disorder Of Glycosylation, Type Iie	Congestive heart failure, Perimembranous ventricular septal defect, Gastroesophageal reflux, Prot...	OMIM:608779
Acrocardiofacial Syndrome	Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def...	ORPHA:2008
Fumarase Deficiency	Perimembranous ventricular septal defect, Bilateral fetal pyelectasis, Polyhydramnios, Necrotizin...	OMIM:606812
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Achondrogenesis Type 1B	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93298
Chronic Granulomatous Disease	Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Achondrogenesis Type 1A	Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold	ORPHA:93299
Noonan Syndrome 2	Atrioventricular canal defect, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, High palate,...	OMIM:605275
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Elevated circulating creatine kinase concentration, Cholelithiasis	OMIM:618775
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Coarctation of aorta,...	OMIM:614921
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery atherosclerosis, Angina pectoris, Low-output congestive heart failure, Vacuolated...	ORPHA:565612
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption	OMIM:221400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia, Patent ductus arteriosus	OMIM:126320
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Hyperactivity, Low frustration tolerance, Decreased testicular size, Restlessness...	OMIM:300534
Rh Deficiency Syndrome	Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,...	ORPHA:71275
Free Sialic Acid Storage Disease	Ascites, Hydrops fetalis, Splenomegaly	ORPHA:834
Acces Syndrome	Tracheoesophageal fistula	OMIM:619959
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Ventricular arrhythmia, Microangiopathic hemolytic anemia	OMIM:141000
Grange Syndrome	Aortic regurgitation, Hypertension, Arterial stenosis, Patent ductus arteriosus, Ventricular sept...	ORPHA:79094
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Congenital Myopathy 1B, Autosomal Recessive	Polyhydramnios, Hydrops fetalis, High palate, Decreased fetal movement	OMIM:255320
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration, Osteoporosis, Optic disc pallor, ...	OMIM:213700
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v...	OMIM:620203
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ...	ORPHA:90033
Gaucher Disease, Perinatal Lethal	Decreased fetal movement, Polyhydramnios, Anemia, Ascites, Neonatal death, Hepatosplenomegaly, Sp...	OMIM:608013
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Boomerang Dysplasia	Polyhydramnios, Hydrops fetalis	ORPHA:1263
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chronic lymphatic le...	ORPHA:98849
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L...	OMIM:108900
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin...	OMIM:604367
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonary ar...	ORPHA:505248
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Rudiger Syndrome	Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Martinez-Frias Syndrome	Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal atresia, Duoden...	OMIM:601346
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Gastroes...	OMIM:301040
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect	OMIM:613759
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Dysphagia, Hypertrophic cardiomyopathy	ORPHA:368
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Sialuria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple...	ORPHA:3166
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Rhombencephalosynapsis	Anal atresia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula	ORPHA:59315
Retinitis Pigmentosa 89	Retinal thinning, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, ...	OMIM:618955
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Arrhythmia	ORPHA:104
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Retinopathy, Splenomegaly, Cardiomegaly	OMIM:603903
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Hoxha-Aliu Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, High palate	OMIM:620662
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Tracheoesophageal fistula	ORPHA:3068
Spherocytosis, Type 1	Hyperbilirubinemia, Jaundice, Splenomegaly, Cholelithiasis	OMIM:182900
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural...	ORPHA:542323
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocytic anemia, Reticuloc...	OMIM:615550
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentratio...	OMIM:194380
Intellectual Developmental Disorder, Autosomal Recessive 73	Decreased fetal movement, Ventricular septal defect, Patent ductus arteriosus	OMIM:619717
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Sepsis In Premature Infants	Anemia, Bradycardia, Functional abnormality of the gastrointestinal tract, Hypotension, Leukocyto...	ORPHA:90051
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Hydrops fetalis, Anemia, Ascending tubular aorta aneurysm, Increased B c...	OMIM:620376
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Immunodeficiency 76	B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Recurrent bronchiolitis, Colitis	OMIM:619164
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, High-output congestive heart failure, Chylothorax, Lymphedema, Cerebral...	ORPHA:137667
Acro-Renal-Mandibular Syndrome	Oligohydramnios, Aplasia/Hypoplasia of the tongue, High palate, Tracheoesophageal fistula	ORPHA:958
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Dyskeratosis Congenita	Anemia, Anorectal anomaly, Tracheoesophageal fistula, Bone marrow hypocellularity, Thrombocytopen...	ORPHA:1775
Generalized Pseudohypoaldosteronism Type 1	Increased circulating renin level, Hyponatremia, Hyperkalemia, Cholelithiasis	ORPHA:171876
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Breech presentation, Gastroesophageal reflux, Bradycardia, Hypertension, High palate, Retinal hem...	OMIM:614653
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Charge Syndrome	Anal stenosis, Polyhydramnios, Patent ductus arteriosus, Esophageal atresia, Right aortic arch, L...	OMIM:214800
Glycogen Storage Disease Xii	Jaundice, Hepatomegaly, Reduced haptoglobin level, Cholelithiasis, Hyperbilirubinemia, Elevated c...	OMIM:611881
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c...	ORPHA:231736
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Polyhydramnios, Impaired lymp...	OMIM:243150
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Patent foramen ovale, Ventricular esca...	ORPHA:542306
Dyssegmental Dysplasia, Silverman-Handmaker Type	Single umbilical artery, Hydrops fetalis, Abnormal heart morphology, Cleft palate, Increased plac...	ORPHA:1865
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia	ORPHA:90036
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Edema, Ventricular tachycardia, Dilated card...	OMIM:605676
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Diamond-Blackfan Anemia	Normochromic anemia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Leukopenia, ...	ORPHA:124
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
S-Adenosylhomocysteine Hydrolase Deficiency	Hydrops fetalis, Hepatocellular carcinoma, Cardiomyopathy	ORPHA:88618
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:615297
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Williams Syndrome	Hypertension, Cerebral ischemia, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve prola...	ORPHA:904
Septo-Optic Dysplasia Spectrum	Cleft palate, Esophageal atresia, Tracheoesophageal fistula	ORPHA:3157
Glycogen Storage Disease Of Heart, Lethal Congenital	Breech presentation, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, A...	OMIM:261740
Congenital Syphilis	Myocarditis, Large placenta, Hydrops fetalis, Anemia, High palate, Premature birth, Thrombocytope...	ORPHA:499009
Wild Type Attr Amyloidosis	Congestive heart failure, Pulmonary edema, Pedal edema, Bradycardia, Atrial fibrillation, Pleural...	ORPHA:330001
8P23.1 Duplication Syndrome	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Mic...	OMIM:614837
Lathosterolosis	Bilobate gallbladder, Ambiguous genitalia, male, Intrahepatic cholestasis, Hyperbilirubinemia, El...	OMIM:607330
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Cerebral edema, Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Penile Agenesis	Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Fetal pyelectasis, At...	ORPHA:49
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe...	OMIM:620066
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr...	ORPHA:508498
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis, Optic disc pa...	OMIM:615512
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology	ORPHA:83473
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Renal Agenesis, Bilateral	Abnormal intestine morphology, Tracheoesophageal fistula, Fetal polyuria, Cleft palate, Oligohydr...	ORPHA:1848
Ppoma	Anorexia, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Incre...	ORPHA:97278
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Vater/Vacterl Association	Single umbilical artery, Transposition of the great arteries, Esophageal atresia, Tracheoesophage...	OMIM:192350
Immunodeficiency 62	B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec...	OMIM:618459
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Gaucher Disease	Osteopenia, Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis, Ele...	ORPHA:355
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Neoplasm o...	ORPHA:2126
Halperin-Birk Syndrome	Perimembranous ventricular septal defect, High palate, Gastroesophageal reflux, Pseudobulbar para...	OMIM:618651
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Cocaine Intoxication	Ischemic stroke, Gastrointestinal infarctions, Pulmonary edema, Prolonged QT interval, Supraventr...	ORPHA:90068
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus	OMIM:615524
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Decreased fetal movement, Edema, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Glossitis, Megaloblastic anemia, Dehydration, Pulmonary arterial hypertension, A...	ORPHA:79282
Stiff-Person Syndrome	Tachycardia, Hypertension, Anemia	OMIM:184850
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Hemochromatosis, Neonatal	Oligohydramnios, Nonimmune hydrops fetalis	OMIM:231100
Lymphatic Malformation 1	Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema	OMIM:153100
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Aortic root aneurysm,...	ORPHA:404443
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia, Ventricular septal defect	OMIM:612528
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Increased circulating myelocyte count, Hypotension, Thrombocytopenia...	ORPHA:36234
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia, Decreased...	OMIM:613205
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Vitreous hemorrhage, Hydrops fetalis, Splenic cyst, Tracheomalacia, Patent foramen...	OMIM:620371
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g...	ORPHA:1227
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Foam cells	ORPHA:264675
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Gm1 Gangliosidosis Type 1	Abnormal placenta morphology, Hydrops fetalis, Cardiomyopathy, Hepatosplenomegaly, Macroglossia	ORPHA:79255
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, Leukopenia, Diffuse alv...	ORPHA:99827
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Weill-Marchesani Syndrome	Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis	ORPHA:3449
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Pericardial lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Intesti...	OMIM:235510
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614262
Cerebrotendinous Xanthomatosis	Optic atrophy, Osteopenia, Agitation, Cholelithiasis, Depression, Optic neuropathy, Osteoporosis,...	ORPHA:909
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Mucopolysaccharidosis, Type Vii	Hydrops fetalis, Abnormal heart valve morphology, Cardiomyopathy, Splenomegaly, Macroglossia	OMIM:253220
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Achondrogenesis, Type Ii	Edema, Stillbirth, Polyhydramnios, Hydrops fetalis	OMIM:200610
Fanconi Anemia, Complementation Group L	Anemia, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Bone marrow hypocellularity,...	OMIM:614083
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Alg9-Cdg	Atrial septal defect, Hydrops fetalis, Gastroesophageal reflux, Abnormal left ventricular outflow...	ORPHA:79328
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Intermittent jaundice, Portal vein thrombosis, Increased total bilirubin, Splenom...	ORPHA:3202
Vacterl With Hydrocephalus	Single umbilical artery, Polyhydramnios, Esophageal atresia, Anal atresia, Tracheoesophageal fistula	ORPHA:3412
Pearson Syndrome	Steatorrhea, Hydrops fetalis, Anemia, Pancytopenia, Corneal stromal edema, Cardiomyopathy, Dehydr...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio...	OMIM:614702
Fibrochondrogenesis 1	Stillbirth, Patent foramen ovale, Cleft palate, Hydrops fetalis	OMIM:228520
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Meckel Syndrome, Type 6	Abnormal internal genitalia, Bile duct proliferation, Cystic liver disease, Absent gallbladder, H...	OMIM:612284
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo...	ORPHA:99050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Lymphopenia, B lymphocytopenia, T lymphocytopenia	ORPHA:277
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Cardiomyopathy, Abnormality of the amniotic fluid, Pericardial effusion, Pericarditi...	OMIM:212065
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplas...	ORPHA:432
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Carney Triad	Gastrointestinal hemorrhage, Anemia, Hypertension, Ascites, Arrhythmia, Tachycardia	ORPHA:139411
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent bronchitis, Neutropenia, Absent circulating B cells	OMIM:613501
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:166210
Charge Syndrome	Abnormal aortic valve morphology, Polyhydramnios, Gastroesophageal reflux, Abnormal soft palate m...	ORPHA:138
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, High palate, Coronary-pulmonary artery fistula	OMIM:619699
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Leukopenia, Splenomegaly, Lymphopenia	OMIM:620210
Grfoma	Anorexia, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Incre...	ORPHA:97261
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Macrocytic anemia, Coronary artery fistula, Cleft palate, Ventricular septal defect...	OMIM:614294
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Precocious puberty, Attention deficit hyperactivity disorder, Cryptorchidism, Microp...	ORPHA:96092
Hereditary Elliptocytosis	Hydrops fetalis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Stomatocytosis, C...	ORPHA:288
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hydrops fetalis, Tricuspid regurgitation, Intestinal malrotation, Cleft palate, Microglossia, Atr...	OMIM:263520
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia, Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str...	OMIM:194072
Degcags Syndrome	Breech presentation, Abnormal spleen morphology, Pulmonic stenosis, Premature birth, Leukopenia, ...	OMIM:619488
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin...	OMIM:273250
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation, Chorioretinal coloboma, Motor stereotypy, Retinal dege...	OMIM:610688
Treacher-Collins Syndrome	Rectovaginal fistula, Glossoptosis, Hypoplasia of the thymus, Tracheoesophageal fistula, High pal...	ORPHA:861
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Metachromatic Leukodystrophy	Addictive behavior, Emotional lability, Hemobilia, Neoplasm of the gallbladder, Abnormal gallblad...	ORPHA:512
Rubinstein-Taybi Syndrome 1	Narrow palate, Hepatic hemangioma, Perimembranous ventricular septal defect, High, narrow palate,...	OMIM:180849
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Noonan Syndrome 8	Polyhydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricula...	OMIM:615355
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hypoglycemia, Fasting hypoglyc...	ORPHA:263455
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Farber Disease	Hydrops fetalis, Anemia, Ascites, Thrombocytopenia, CNS foam cells, Hepatosplenomegaly, Joint swe...	ORPHA:333
Phocomelia, Schinzel Type	High, narrow palate, Hydrops fetalis, Anal atresia, Tracheoesophageal fistula, Cleft palate	ORPHA:2879
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Intestinal malrotation, Tracheoesophageal fistula, Oligohydramnios, Anal atresia	ORPHA:2973
Pseudo-Torch Syndrome 2	Fetal distress, Bradycardia, Pleural effusion, Ascites, Secundum atrial septal defect, Thrombocyt...	OMIM:617397
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Atrial Standstill 2	Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa...	OMIM:615745
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Hennekam Syndrome	Hydrops fetalis, Chylothorax, Lymphedema, Ascites, Pyloric stenosis, Pericardial effusion, Spleno...	ORPHA:2136
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Ovarian Fibrothecoma	Ovarian fibroma, Abnormality of the ovary, Ascites, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Bradycardia, Capillary leak, Neutrophilia in presence ...	ORPHA:99826
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Oral-pharyngeal dysphagia, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, V...	OMIM:616878
Vaginal Atresia	Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,...	ORPHA:65681
Mucopolysaccharidosis Type 7	Ascites, Hydrops fetalis, Splenomegaly, Lymphedema	ORPHA:584
Sickle Cell Anemia	Jaundice, Cholelithiasis, Splenic infarction, Osteoporosis, Unconjugated hyperbilirubinemia, Abno...	ORPHA:232
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Satoyoshi Syndrome	Mildly elevated creatine kinase, Osteolytic defects of the phalanges of the hand, Hypoplasia of t...	OMIM:600705
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm	ORPHA:261330
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Perrault Syndrome 4	Hypoplasia of the ovary, Bicornuate uterus, Osteoporosis, Increased circulating gonadotropin leve...	OMIM:615300
Scorpion Envenomation	Myocarditis, Congestive heart failure, Pulmonary edema, Prominent U wave, Hypertension, Premature...	ORPHA:466677
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Bradycardia, Atrial fibrillation, Pyloric stenosis, Splenomegaly, Dysphagi...	OMIM:613327
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Decreased fetal movement	OMIM:616816
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Pulmonary edema, Anemia, Melena, Capillary leak, Hypertension, Pleural effusion, Hyp...	ORPHA:340
Holt-Oram Syndrome	Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle, Perimembranous ventricul...	OMIM:142900
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly	OMIM:256540
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Tetanus	Tachycardia, Hypertension, Dysphagia, Bradycardia	ORPHA:3299
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymph...	OMIM:607823
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Cholelithiasis, Hyperbilirubinemia, Splenomegaly	ORPHA:822
Atelis Syndrome 1	Anemia, Thrombocytopenia, Leukopenia, Atrial septal defect, Ventricular septal defect	OMIM:620184
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Immunodeficiency 102	Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor...	OMIM:301082
Porphyria, Acute Intermittent	Hypertension, Hepatocellular carcinoma, Tachycardia, Paralytic ileus, Reduced erythrocyte porphob...	OMIM:176000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Irritability, Retinal neovascularization, Depression, Retinal cotton wool spot, Abnormality of th...	ORPHA:247691
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Grange Syndrome	Renal artery stenosis, Coronary artery stenosis, Renovascular hypertension, Bicuspid aortic valve...	OMIM:602531
Myotonic Dystrophy 2	Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction	OMIM:602668
Microcephaly 20, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Hypoplasia of the uterus, Vagin...	OMIM:617914
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, T lymphocytopenia, Inflammation of the large inte...	OMIM:618108
Campomelia, Cumming Type	Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Cleft palate, Oligohydramnios	ORPHA:1318
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Ventricular hypertrophy, Hypertension, Ascites, Cardiomegaly, Edema, ...	ORPHA:51608
Neuroleptic Malignant Syndrome	Thrombocytosis, Bradycardia, Hypertension, Dehydration, Hypotension, Hypertensive crisis, Leukocy...	ORPHA:94093
Transaldolase Deficiency	Anemia, Pancytopenia, Patent foramen ovale, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, P...	OMIM:606003
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Supraventricular tachycardia, Premature ventricular co...	ORPHA:423
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, B lymphocytopenia, Pyloric stenosis, Severe B lymphocyt...	ORPHA:83617
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Villous atrophy, Refractory sideroblastic anemia, Anemia, Hydrops fetalis, Pancytope...	OMIM:557000
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Immunodeficiency 68	Abnormal natural killer cell count, Delayed umbilical cord separation, B lymphocytopenia, T lymph...	OMIM:612260
Platyspondylic Dysplasia, Torrance Type	Hydrops fetalis, Polyhydramnios, Cleft palate	ORPHA:85166
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Necrotizing Enterocolitis	Neutropenia, Bradycardia, Hypotension, Leukocytosis, Ascites, Abnormal heart morphology, Thromboc...	ORPHA:391673
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology	OMIM:616910
Greenberg Dysplasia	Stillbirth, Large placenta, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Bone ...	OMIM:215140
Ritscher-Schinzel Syndrome 1	Single umbilical artery, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double ou...	OMIM:220210
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Porphyria Variegata	Anemia, Hypertension, Hepatocellular carcinoma, Tachycardia, Ileus	ORPHA:79473
Polysyndactyly With Cardiac Malformation	Stillbirth, Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:263630
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:261120
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Estrogen Resistance Syndrome	Osteopenia, Breast hypoplasia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Oste...	ORPHA:785
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Bradycardia, High palate, Hypoplasia of the thymus, Median cleft p...	ORPHA:40366
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence...	OMIM:607594
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Precocious puberty, Hepatosplenomegaly, Motor stereotypy, Cholecyst...	OMIM:301066
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Coloboma, Retinal atrophy, Cardiomegaly	ORPHA:97297
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Roifman Syndrome	Noncompaction cardiomyopathy, Premature birth, Splenomegaly, Eosinophilia, Ventricular septal defect	OMIM:616651
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep...	OMIM:618652
Hereditary Coproporphyria	Tachycardia, Hepatocellular carcinoma, Small intestinal dysmotility	ORPHA:79273
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Sirenomelia	Tracheoesophageal fistula, Anal atresia	ORPHA:3169
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas	ORPHA:3032
Bardet-Biedl Syndrome 19	Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula...	OMIM:615996
Cranioectodermal Dysplasia 2	Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Hypertension, High palate, Left ventricula...	OMIM:613610
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Polyhydramni...	ORPHA:363705
Gillessen-Kaesbach-Nishimura Syndrome	Decreased skull ossification, Bicornuate uterus, Periportal fibrosis	OMIM:263210
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Steinfeld Syndrome	Absent gallbladder, Iris coloboma, Retinal coloboma	OMIM:184705
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ...	OMIM:612310
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagin...	OMIM:146255
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Neutrophilia, ...	OMIM:619281
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Renal artery stenosis, Cerebral hemorrhage, Posi...	OMIM:171300
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619665
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hypospadias, Cholelithiasis, Aggressive behavior	ORPHA:464738
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating uroporphyrin concentrati...	OMIM:263700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Bronchiectasis, Absc...	OMIM:150550
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular canal defect, Anomalous pulmonary venous return,...	ORPHA:392
Caudal Duplication	Uterus didelphys, Abnormal penis morphology, Cryptorchidism	ORPHA:1756
Renal Nutcracker Syndrome	Anemia, Orthostatic hypotension, Tachycardia, Renal artery stenosis, Syncope	ORPHA:71273
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
22Q11.2 Deletion Syndrome	Atrial septal defect, Tricuspid atresia, Abnormal aortic valve morphology, Abnormal aortic arch m...	ORPHA:567
Ethylene Glycol Poisoning	Congestive heart failure, Pulmonary edema, Prolonged QT interval, Gastritis, Atrial fibrillation,...	ORPHA:31826
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Attention deficit hyperactivity disorder, Elevated circulating creatine kinase concentration, Bil...	ORPHA:565899
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrops fetalis, Polyhydramnios, Cleft palate, Atrial septal defect, Hamartoma of tongue	OMIM:616546
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Achondrogenesis, Type Ia	Stillbirth, Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Protruding tongue, Ab...	OMIM:200600
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619203
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
16P13.11 Microduplication Syndrome	Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o...	ORPHA:261243
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Polyhydramnios, High palate, Increased mean platelet volume, Thrombocytope...	OMIM:620475
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Aplasia of the uterus, Uterus didelphys,...	ORPHA:2237
Chromosome 5Q12 Deletion Syndrome	Patent foramen ovale, Hypotension, Increased nuchal translucency, Patent ductus arteriosus, Atria...	OMIM:615668
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hydrops fetalis, Short uvula, High palate, Ascites, Cleft palate	OMIM:614091
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Developmental And Epileptic Encephalopathy 66	Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Neutropenia	OMIM:618067
Perlman Syndrome	Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly	ORPHA:2849
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Hepatomegaly, Increased serum bile acid concentration, Cholelithiasis, ...	OMIM:618268
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo...	ORPHA:2298
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Congestive heart failure, Villous atrophy, B lymphocytopenia, Patent...	ORPHA:391487
Immunodeficiency 70	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Celiac disease, Achalasia...	OMIM:618969
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Patent ductus arteriosus, Atrial septal defect, Ventricu...	OMIM:620024
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter...	ORPHA:168558
Donnai-Barrow Syndrome	Retinal detachment, Bicornuate uterus, Retinal dystrophy, Iris coloboma	OMIM:222448
Tyshchenko Syndrome	Polyhydramnios, Pulmonic stenosis, Premature birth, Atrial septal defect, Ventricular septal defect	OMIM:615102
Congenital Rubella Syndrome	Anemia, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Atrial septal defect, Ventricul...	ORPHA:290
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, ...	OMIM:277400
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Fraser Syndrome 3	Stillbirth, Sonographic non-visualized fetal bladder, Ascites, Nonimmune hydrops fetalis, Trachea...	OMIM:617667
Schneckenbecken Dysplasia	Stillbirth, Polyhydramnios, Cleft palate, Nonimmune hydrops fetalis	OMIM:269250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Fetal distress, Bilateral fetal pyelectasis, Hydrops fetalis, Breech presentation, Polyhydramnios...	OMIM:300868
Severe Neurodegenerative Syndrome With Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Insulin resistance, Hepatic steatosis	ORPHA:363400
Li-Campeau Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:619189
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter...	ORPHA:289548
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Uterus didelphys, Hypoplasia of penis	ORPHA:2491
Yunis-Varon Syndrome	High, narrow palate, Hydrops fetalis, Polyhydramnios, Hypertension, Cardiomyopathy, Renal artery ...	ORPHA:3472
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Pulmonic ste...	OMIM:618223
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Palpebral edema, Lymphedema, Facial telangiectasia in butter...	OMIM:137940
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect, Oligohydramnios	ORPHA:139466
Townes-Brocks Syndrome 1	Anal stenosis, Rectovaginal fistula, Gastroesophageal reflux, Tracheoesophageal fistula, Rectoper...	OMIM:107480
Diamond-Blackfan Anemia 7	Fetal distress, Polyhydramnios, Macrocytic anemia, Increased mean corpuscular volume, Secundum at...	OMIM:612562
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Single umbilical artery, Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Single umbilical artery, Polyhydramnios, Ventricular septal defect, Premature birth	ORPHA:2256
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Leukemia	OMIM:602501
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Caesarian section, Epista...	ORPHA:369929
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Graft Versus Host Disease	Gastrointestinal inflammation, Hemophagocytosis, Hepatosplenomegaly, Tachycardia, Recurrent gastr...	ORPHA:39812
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Patent ductus arteriosus, Dextrocardia, Ventricular se...	OMIM:619657
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Recombinant Chromosome 8 Syndrome	Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ...	OMIM:179613
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Long penis, Decreased circulating...	OMIM:202010
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Retinoblastoma, Bifid scrotum, Urogenital sinus anoma...	ORPHA:96176
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Recurrent bronchitis	OMIM:612692
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Hypoplastic aortic arch, Truncus arteriosus, Dysplastic aortic val...	ORPHA:508488
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618330
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Cholera	Achlorhydria, Dehydration, Hypovolemic shock, Hypotension, Premature birth, Tachycardia	ORPHA:173
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen...	OMIM:169400
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:400
46,Xx Sex Reversal 5	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:618901
Genitopalatocardiac Syndrome	Double outlet right ventricle, Transposition of the great arteries, Ventricular septal defect	OMIM:231060
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Myocardial infarction, Coronary artery stenosis	OMIM:615812
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Donohue Syndrome	Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Hepatic f...	OMIM:246200
Hadziselimovic Syndrome	Ventricular septal defect, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot	OMIM:612946
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus, ...	ORPHA:284169
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Meacham Syndrome	Stillbirth, Single umbilical artery, Transposition of the great arteries, Partial anomalous pulmo...	OMIM:608978
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Amed Syndrome, Digenic	Attention deficit hyperactivity disorder, Hypoplasia of the uterus	OMIM:619151
Omodysplasia 2	Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidism, Micropenis	OMIM:164745
Kagami-Ogata Syndrome	Polyhydramnios, Pulmonary arterial hypertension, Pulmonic stenosis, Premature birth, Splenomegaly...	OMIM:608149
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Decreased skull o...	ORPHA:3376
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Decreased calvarial ossification, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis,...	ORPHA:79303
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
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Abnormal intestine morphology, Intestinal lymphoid nodular hyperplasia, Spleno...	ORPHA:397596
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Cholelithiasis, Azoospermia, Papilledema, Hepatosplenomegaly, Splenomeg...	ORPHA:2072
Tangier Disease	Anemia, Coronary artery stenosis, Accelerated atherosclerosis, Thrombocytopenia, Hepatosplenomega...	ORPHA:31150
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, B lymphocytopenia, Bone marrow hypocellularity, Inflammation of the lar...	OMIM:620133
Steinert Myotonic Dystrophy	Obsessive-compulsive trait, Decreased response to growth hormone stimulation test, Male hypogonad...	ORPHA:273
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr...	OMIM:270100
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Absent vas deferens, Jaundice, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
46,Xx Gonadal Dysgenesis	Osteopenia, Gonadal dysgenesis, Reduced bone mineral density, Osteoporosis of vertebrae, Aplasia/...	ORPHA:243
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatic fibrosis	ORPHA:79319
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition o...	OMIM:306955
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Coronary artery atherosclerosis, ...	ORPHA:280365
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, Noncompaction cardiomyopathy, B lymphocytopenia, Reticulocytope...	ORPHA:508542
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Thrombocytopenia, Periorbital edema, Decreased proportion of memory B cells, I...	OMIM:618048
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Galactokinase Deficiency	Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia	ORPHA:79237
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Pleural effusion, Ascites	OMIM:617049
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618974
Intellectual Developmental Disorder, Autosomal Dominant 47	Single umbilical artery, Ventricular septal defect, Increased nuchal translucency	OMIM:617635
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Decreased liver function, Elevated circulating hepatic transaminase concentration,...	OMIM:618329
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Neonatal death	OMIM:613730
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased proportion of memory B cells	ORPHA:70593
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction, Pulmonary artery stenosis, Bi...	OMIM:620504
Teebi Hypertelorism Syndrome 1	Bicornuate uterus, Coronal craniosynostosis, Shawl scrotum, Sagittal craniosynostosis, Hydrocele ...	OMIM:145420
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Hypoamylasemia, Pancreatic aplasia, Reduced C-peptide level	ORPHA:556955
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, High, nar...	ORPHA:558
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele	ORPHA:268810
Coffin-Siris Syndrome 7	Single umbilical artery, Polyhydramnios, Patent foramen ovale, Bicuspid aortic valve, Ventricular...	OMIM:618027
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypo...	ORPHA:1655
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Leukopenia, Hepatosplenomegal...	OMIM:618986
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L...	OMIM:615474
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Plague	Hematemesis, Glossitis, Hypotension, Inflammation of the large intestine, Enterocolitis, Ileitis,...	ORPHA:707
Blomstrand Lethal Chondrodysplasia	Hydrops fetalis, Polyhydramnios, Protruding tongue, Coarctation of aorta, Premature birth	ORPHA:50945
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Polyhydramnios, Large placenta, Abnormal heart morphology, Ventricular septal defect	ORPHA:254534
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Anal atresia, Cleft palate, Colonic atresia, Arrhythmia, Overriding ...	OMIM:309801
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Congenital Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Insulin resistance, Dia...	ORPHA:528
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent foramen ovale, Tricuspid regurgitation, Increased nuchal translucency, Patent ductus arter...	OMIM:618870
Noonan Syndrome 10	Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pulmonic stenosis, ...	OMIM:616564
Tatton-Brown-Rahman Syndrome	Fetal distress, Tricuspid regurgitation, Atrial septal defect, Ventricular septal defect, Mitral ...	OMIM:615879
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Increased nuchal translucency, Abnormal heart morphology, Atrial septal def...	OMIM:618494
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male...	OMIM:194080
Noonan Syndrome 4	Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia, Atrial septal d...	OMIM:610733
Pentalogy Of Cantrell	Absent gallbladder, Hypospadias, Polysplenia	ORPHA:1335
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hypospadias, Hyperuricemia, Pancreatic h...	OMIM:137920
Gaisböck Syndrome	Peptic ulcer, Increased hematocrit, Elevated diastolic blood pressure, Elevated plasma cell count...	ORPHA:90041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina...	OMIM:614643
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Irritability, Abnormal vitreous humor morpholog...	ORPHA:649
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hypospadias, Hypocalcemia	OMIM:300712
Alg3-Cdg	Cardiomyopathy, Neural tube defect	ORPHA:79321
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Micropenis	ORPHA:163979
Congenital Myopathy 22B, Severe Fetal	Polyhydramnios, Breech presentation, High palate, Ascites, Pleural effusion, Nonimmune hydrops fe...	OMIM:620369
Hyperthyroidism, Nonautoimmune	Tachycardia, Premature birth	OMIM:609152
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Combined Immunodeficiency Due To Dock8 Deficiency	Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Fetal Trimethadione Syndrome	Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o...	ORPHA:1913
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension, Gastroesophageal reflux	OMIM:223900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Dehydration, Thrombocytopenia, Right ventricular hypertrophy, Atrial septal...	OMIM:208085
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Pulmonic stenosis, Leukopenia, Thrombocytopenia, Double outlet right ventricle, V...	OMIM:301056
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Single umbilical artery, Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, A...	ORPHA:329224
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Echogenic intracardiac focus, Patent ductus art...	OMIM:617751
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Noonan Syndrome 3	Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Polyhydramnios, Patent foramen ovale,...	OMIM:609942
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg...	OMIM:616084
Trisomy 8P	Annular pancreas, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
3C Syndrome	Single umbilical artery, Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulm...	ORPHA:7
Femoral-Facial Syndrome	Truncus arteriosus, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus, Ventricula...	OMIM:134780
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Tetralogy of Fallot	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, Peau d'orange, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Atrial sep...	OMIM:614576
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,...	ORPHA:500159
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Emotional lability, Depression, Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Acquired Generalized Lipodystrophy	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resistance, Hepatic steato...	ORPHA:79086
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Delayed ossification of carpal bones, Bifid scrotum, Ut...	OMIM:140000
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Early ossification of capital femoral epiphyses, Hepatic fibrosis, Polycystic liver dis...	OMIM:208500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus	OMIM:618142
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Patent foramen ovale, Lymphopenia, Pulmonary arterial hypertension, Por...	OMIM:620005
Persistent Hyperplastic Primary Vitreous	Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas...	ORPHA:91495
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag...	OMIM:301078
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo...	ORPHA:98855
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension, Gastroesophageal reflux	ORPHA:1764
Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98853
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect, Persistence of hemoglobin F, Patent ductus arter...	OMIM:619769
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, High palate, Coarctation of aorta, Bicuspid aortic valve	ORPHA:1772
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia	OMIM:191830
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval, Coronary arter...	ORPHA:36913
King-Denborough Syndrome	Ventricular septal defect, Breech presentation, Decreased fetal movement	OMIM:619542
Congenital Erythropoietic Porphyria	Increased fecal coproporphyrin 1, Reticulocytosis, Poikilocytosis, Increased stool urobilinogen c...	ORPHA:79277
Costello Syndrome	Polyhydramnios, Hypertrophic cardiomyopathy, Thickened nuchal skin fold, Pulmonic stenosis, Mitra...	ORPHA:3071
Niemann-Pick Disease Type C	Hydrops fetalis, Foam cells, Bone-marrow foam cells, Ascites, Hepatosplenomegaly, Splenomegaly, D...	ORPHA:646
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Peters-Plus Syndrome	Bilobate gallbladder, Hypospadias, Hypoplastic labia majora, Clitoral hypoplasia, Retinal colobom...	OMIM:261540
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Acute Intermittent Porphyria	Hypertension, Hepatocellular carcinoma, Tachycardia, Ileus, Pseudobulbar paralysis	ORPHA:79276
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De...	ORPHA:100924
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous...	ORPHA:3097
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Pancytopenia, Ventricular hypertrophy, Lymphopenia, Increased nuchal translucency, Pulmon...	OMIM:620654
Trisomy 10P	Absent gallbladder, Dysphagia, Rectovaginal fistula	ORPHA:171929
Braddock-Carey Syndrome 1	Thrombocytopenia, Ventricular septal defect, Aortic valve prolapse	OMIM:619980
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Accessory spleen, Clitoral hypoplasia, Elevated circulating follicle stimulat...	OMIM:618419
Tetrasomy 9P	Abnormal chorioretinal morphology, Inappropriate behavior, Jaundice, Biliary atresia, Hyperactivi...	ORPHA:3310
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Multiple Pterygium Syndrome, Escobar Variant	Hydrops fetalis, Cleft palate, High palate, Decreased fetal movement	OMIM:265000
Ventriculomegaly With Cystic Kidney Disease	Fetal pericardial effusion, Polyhydramnios, Ventricular septal defect, Premature birth	OMIM:219730
Digeorge Syndrome	Right aortic arch with mirror image branching, Interrupted aortic arch, Truncus arteriosus, Tetra...	OMIM:188400
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Macular dystrophy, Clitoral hypertrophy, Retinal dystrophy, Labial hypoplasia, Bicornuate uterus	ORPHA:140952
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula	ORPHA:309246
Prune Belly Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, O...	ORPHA:2970
Mandibuloacral Dysplasia	Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus	ORPHA:2457
X-Linked Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98863
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Doub...	OMIM:618316
Legius Syndrome	Acute monocytic leukemia, Pulmonic stenosis, Paroxysmal atrial tachycardia, Mitral valve prolapse...	ORPHA:137605
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Enlarged polycystic ovaries, Biliary tract neoplasm, Pancreatic a...	ORPHA:2869
Trisomy X	Atrial septal defect, Ventricular septal defect	ORPHA:3375
Keutel Syndrome	Ventricular septal defect, Pulmonary arterial hypertension	ORPHA:85202
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count, Bronchiectasis	OMIM:241600
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Villous atrophy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal...	ORPHA:371428
Fetal Akinesia Deformation Sequence 1	Stillbirth, High, narrow palate, Short umbilical cord, Small placenta, Polyhydramnios, High palat...	OMIM:208150
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Bone marrow hypocellularity, Atrial septal defect, Ventricular septal defec...	OMIM:609053
Cardiofacioneurodevelopmental Syndrome	Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect, Asplenia	OMIM:619123
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Ventricular septal defect, Mitral regurgitation	OMIM:301039
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:480520
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular syste...	OMIM:609049
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hyperactivity, Bifid scrotum, Splenomegaly, Small scrotum, Septate vag...	OMIM:270400
Ehlers-Danlos Syndrome, Classic-Like, 1	Bicornuate uterus, Ambiguous genitalia, female	OMIM:606408
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hydrops fetalis, Polyhydramnios, Fetal polyuria, Premature birth, Edema	OMIM:602522
Galloway-Mowat Syndrome 7	Edema, Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Hepatosplenomegaly, Cerebral hemorrhage, Neutropenia	OMIM:301081
Myopathy With Extrapyramidal Signs	Ventricular septal defect, Leukocytosis, Splenomegaly	OMIM:615673
Pseudotrisomy 13 Syndrome	Cyclopia, Cryptorchidism, Micropenis, Bicornuate uterus	OMIM:264480
Microsporidiosis	Anorexia, Prostatitis, Pancreatitis, Cholangitis, Abnormal fallopian tube morphology, Abnormal en...	ORPHA:2552
Down Syndrome	Prenatal double bubble sign, Atrioventricular canal defect, Partial anomalous pulmonary venous re...	OMIM:190685
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Gastroesophageal reflux, Atrial fibrillation, Arrhyth...	ORPHA:254892
Zttk Syndrome	Optic atrophy, Craniosynostosis, Absent gallbladder	OMIM:617140
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Atrial s...	ORPHA:261183
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Cyclopia, Iris coloboma	ORPHA:3186
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Woods Syndrome	Ventricular septal defect	OMIM:615236
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Arrhythmia, Atrial septal defect, Ventricular septal defect, Mitral regurgi...	ORPHA:254346
Hepatoerythropoietic Porphyria	Abnormality of the amniotic fluid, Increased fecal porphyrin, Splenomegaly, Nonimmune hydrops fet...	ORPHA:95159
Sarcoidosis	Heart block, Anemia, Abnormality of the gastrointestinal tract, Abnormal cardiac ventricular func...	ORPHA:797
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph...	ORPHA:2075
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Mitral regurgitation	OMIM:603387
Ogden Syndrome	Ventricular septal defect, Cardiogenic shock, Arrhythmia	ORPHA:276432
Woodhouse-Sakati Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abno...	ORPHA:3464
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus	OMIM:608612
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic arteriovenous malformation, Retinal telangiectasia, Cholelithiasis, Portal hyp...	ORPHA:774
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Hep...	OMIM:151660
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph...	OMIM:102700
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia...	ORPHA:186
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy	OMIM:614261
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Diabetic Embryopathy	Ventricular septal defect, Single umbilical artery, Transposition of the great arteries, Tetralog...	ORPHA:1926
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Splenomegaly	OMIM:615630
Schinzel-Giedion Midface Retraction Syndrome	Thickened cortex of long bones, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicor...	OMIM:269150
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Overriding aorta, Atrial ...	ORPHA:477817
Contractural Arachnodactyly, Congenital	Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ven...	OMIM:121050
Joubert Syndrome 18	Ventricular septal defect	OMIM:614815
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Rickets, Cirrhosis, Reduced bone mineral density, Elevated circulating ...	OMIM:613658
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent bronchitis, Abnormal lymphocyte morphology, Hypotension, Severe B lymphocytopenia, Bron...	ORPHA:293978
Syndromic Diarrhea	Aortic regurgitation, Thrombocytosis, Lymphopenia, Hypoplasia of the thymus, Increased mean plate...	ORPHA:84064
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left...	OMIM:618619
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
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, Hypospadias, Rectovaginal fistula	OMIM:617466
Chromosome 6Pter-P24 Deletion Syndrome	Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri...	OMIM:612582
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Pagod Syndrome	Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uteru...	ORPHA:991
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus a...	ORPHA:2519
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect, Thickened nuchal skin fold, Patent ductus arteri...	OMIM:220500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Lymphedema, Ascites, Thickened nuchal skin fold, Splenomegaly, Ventricular septal...	OMIM:235255
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Jaundice, Cholangitis, Increased serum bile acid concentration, Peri...	ORPHA:731
Histiocytosis-Lymphadenopathy Plus Syndrome	Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia, Hepatosplenomegaly, Sp...	OMIM:602782
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ...	OMIM:618820
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:619909
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, T lymphocytopenia, Bronchiectasis, Cor pulmo...	OMIM:300755
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine...	ORPHA:2255
Meckel Syndrome 14	Decreased calvarial ossification, Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus	OMIM:619879
Diamond-Blackfan Anemia 10	Anemia, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Patent ductus arteriosus...	OMIM:613309
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ...	ORPHA:2470
Duplication Of Urethra	Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy...	ORPHA:237
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Pulmonary arterial hypertension, Recurrent cutaneous abscess formation, Mit...	ORPHA:163956
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Rectovaginal fistula, Craniosynostosis, Labial hypoplasia, Bicornuate uteru...	OMIM:300707
Carpenter Syndrome 1	Transposition of the great arteries, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteri...	OMIM:201000
Meckel Syndrome, Type 7	Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,...	OMIM:267010
22Q11.2 Duplication Syndrome	Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hypoplastic ...	ORPHA:1727
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ...	OMIM:614947
X Small Rings	Mitral stenosis, Fetal pyelectasis, Bicuspid aortic valve, Ventricular septal defect, Oligohydram...	ORPHA:96201
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Patent ductus arteriosus	OMIM:218350
Chromosome 18Q Deletion Syndrome	Congestive heart failure, Dysplastic pulmonary valve, Absence of the pulmonary valve, Dysplastic ...	OMIM:601808
Seckel Syndrome 9	Polyhydramnios, Atrial septal defect, Ventricular septal defect, Decreased fetal movement	OMIM:616777
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele	OMIM:600145
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept...	OMIM:602450
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Palpebral edema, Cardiac myxoma, Hypertension, Supraventricular tachyca...	OMIM:181270
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dilated cardiomyopathy, Ventricular septal d...	ORPHA:261250
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	ORPHA:435638
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	Osteopenia, Breast hypoplasia, Small pituitary gland, Agonadism, Osteoporosis, Hypergonadotropic ...	ORPHA:2232
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	OMIM:612938
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract obstruction, Intermittent jaundice, Ascites, Biliary tract neoplasm, Chol...	ORPHA:100086
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Optic nerve hypoplasia, Dysphagia, Absent gallbladder, Sagittal craniosynostosis	ORPHA:500150
Yunis-Varon Syndrome	Hydrops fetalis, Polyhydramnios, Patent foramen ovale, Cardiomyopathy, High palate, Pulmonary art...	OMIM:216340
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut...	OMIM:614527
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Thrombocytosis, Macrocy...	OMIM:105650
Renal Agenesis	Oligohydramnios, Ventricular septal defect, Hypertension	ORPHA:411709
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Osteoporosis, Pituitary adenoma	OMIM:219090
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	Black pigment gallstones, Prostatitis, Reduced bone mineral density	ORPHA:56
Trichohepatoenteric Syndrome 1	Large placenta, Polyhydramnios, Aortic regurgitation, Thrombocytosis, Pulmonic stenosis, Increase...	OMIM:222470
Transketolase Deficiency	Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, ...	ORPHA:488618
D-Bifunctional Protein Deficiency	Osteopenia, Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevate...	OMIM:261515
Woodhouse-Sakati Syndrome	Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testi...	OMIM:241080
7Q11.23 Microduplication Syndrome	Hypospadias, Hyperactivity, Polyphagia, Abnormal optic disc morphology, Aplasia/hypoplasia of the...	ORPHA:96121
Retinitis Pigmentosa	Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega...	OMIM:608594
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Cat Eye Syndrome	Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo...	OMIM:115470
Atelis Syndrome 2	Vitreous hemorrhage, Attention deficit hyperactivity disorder, Remnants of the hyaloid vascular s...	OMIM:620185
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
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Rectal prolapse, Gastroesophageal reflux, Peripheral pulmon...	OMIM:194050
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Heart murmur	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	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Ventricul...	OMIM:227645
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Joubert Syndrome 14	Ventricular septal defect, Hypertension, Intracranial hemorrhage	OMIM:614424
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Patent ductus arteriosus	ORPHA:452
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Single umbilical artery, Ventricular septal defect, Supravalvar pulmonary stenosis, Thickened nuc...	OMIM:618164
Down Syndrome	Atrioventricular canal defect, Thickened nuchal skin fold, Acute megakaryocytic leukemia, Polycyt...	ORPHA:870
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Ascites, Biliary hyperp...	OMIM:619991
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ven...	ORPHA:457279
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Patent ductus arteriosus	OMIM:613680
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis...	ORPHA:90794
Acrorenal-Mandibular Syndrome	Uterus didelphys, Absent nipple, Bicornuate uterus, Unicornuate uterus	OMIM:200980
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Patent foramen ovale, Right bundle branch block, Hypertrophic cardiomyopathy, Tri...	OMIM:617506
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Polyhydramnios, Rectal abscess, Peritoneal abscess, Hypoplasia of th...	ORPHA:436252
Peroxisome Biogenesis Disorder 5A (Zellweger)	Fetal distress, Palpebral edema, Aortic regurgitation, Tricuspid regurgitation, Hepatosplenomegal...	OMIM:614866
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Craniosynostosis, Vesi...	OMIM:201750
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Patent foramen ovale, Ascites, Neonatal death, Splenomegaly, Patent ductus arteri...	OMIM:269860
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, Ventricular septal defect, Oligohydramnios, Patent ductus arteriosus	OMIM:620113
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Aortic valve stenosis, Dou...	OMIM:615067
Fanconi Anemia, Complementation Group N	Aplastic anemia, Atrial septal defect, Ventricular septal defect, Acute myeloid leukemia	OMIM:610832
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Gastroesophageal reflux, Left bundle branch block	OMIM:610131
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonary arterial hypertension	OMIM:616449
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Cohen Syndrome	Decreased fetal movement, Ventricular septal defect, Mitral valve prolapse, Neutropenia	ORPHA:193
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Bartsocas-Papas Syndrome 1	Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt...	OMIM:263650
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle	OMIM:616652
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pancreatitis, Splenomega...	OMIM:269700
Kapur-Toriello Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	ORPHA:2328
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Pleural effusion, Increased nuchal translucency, Abnormal heart mo...	ORPHA:453499
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot	ORPHA:1908
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Alagille Syndrome	Atrial septal defect, Ventricular septal defect, Hypertension, Telangiectasia of the skin	ORPHA:52
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Diabetes i...	OMIM:203800
Warsaw Breakage Syndrome	Ventricular septal defect, Tetralogy of Fallot	OMIM:613398
Marshall-Smith Syndrome	Hypertension, Glossoptosis, High palate, Pulmonary arterial hypertension, Dysplastic aortic valve...	OMIM:602535
Kleefstra Syndrome	Bicuspid aortic valve, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia	ORPHA:261494
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Ventricular septal defect, Oligohydramnios	OMIM:611812
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Remnants of the hyaloid vascular system, Abnormal optic nerve morphology, Epir...	ORPHA:637
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Asplenia, Bile duct pro...	OMIM:249000
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Anal stenosis, B lymphocytopenia, Recurrent bronchitis, Anal atresia...	OMIM:251260
Weill-Marchesani Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect, Mi...	OMIM:277600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Ascites, Left-to-right shunt, Splenomegaly, Edema, Aortic regurg...	OMIM:619534
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen...	ORPHA:35078
Adams-Oliver Syndrome 1	Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Tetralog...	OMIM:100300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Hyperglycemia, Insulin-resistant diab...	OMIM:248370
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Aortic regurgitation	OMIM:614114
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Remnants of the hyaloid vascular system, Septate vagina, Cryptor...	OMIM:300166
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:617159
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ...	ORPHA:733
Fryns Syndrome	Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc...	OMIM:229850
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Small pituitary gland, Hypocalcemia, Bruxi...	OMIM:619503
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Anemia, Gastritis, Anoperineal fistula, B lymphocytopenia, Crohn...	OMIM:619381
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect	ORPHA:96129
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Ventricular septal defect, Mitral regurgitation, Aortic regurgitation	OMIM:123700
Ellis Van Creveld Syndrome	Acute leukemia, Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal hea...	ORPHA:289
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff...	ORPHA:91347
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Tricuspid regurgitation, Atrial septal defect, Ventricular septal defect, Pulmonary arterial hype...	OMIM:620663
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric...	OMIM:610759
Wolf-Hirschhorn Syndrome	Optic atrophy, Abnormality of the gallbladder, Hypospadias, Osteoporosis, Retinopathy, Cryptorchi...	ORPHA:280
Mosaic Trisomy 16	Single umbilical artery, Large placenta, Premature birth, Abnormal heart morphology, Patent ductu...	ORPHA:1708
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:52055
Hermansky-Pudlak Syndrome 6	Endometriosis, Perineal fistula, Absent foveal reflex, Macular hypoplasia, Ocular albinism	OMIM:614075
Agammaglobulinemia 1, Autosomal Recessive	Bronchiectasis, Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Coloboma, Compuls...	ORPHA:353281
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Chops Syndrome	Patent foramen ovale, Anomalous pulmonary venous return, Splenomegaly, Patent ductus arteriosus, ...	OMIM:616368
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal d...	ORPHA:209905
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial sept...	OMIM:607721
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Transient neutropenia, Mitral valve prolapse, Pedal edema	OMIM:617107
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Edema of the dorsum of hands, Leukocytosis, Edema of the d...	OMIM:274000
Smith-Lemli-Opitz Syndrome	Optic atrophy, Clitoral hypertrophy, Abnormality of the gallbladder, Hypospadias, Hypoplasia of p...	ORPHA:818
Ehlers-Danlos Syndrome, Vascular Type	Osteolytic defects of the phalanges of the hand, Cervical insufficiency, Cryptorchidism, Uterine ...	OMIM:130050
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy...	ORPHA:322
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect	OMIM:615503
Prader-Willi Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci...	OMIM:176270
Currarino Syndrome	Septate vagina, Bicornuate uterus, Rectovaginal fistula	OMIM:176450
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormal sternal ossification, Accessory spleen, Aplasia of the uterus, Precocious p...	OMIM:194190
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricula...	ORPHA:464311
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Ulnar-Mammary Syndrome	Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Abnormality of the uterus, Cryptorchidism	ORPHA:3138
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydrops fetalis, Esophageal atresia, Ectopic anus, Anal atresia, Bifid tongue	ORPHA:93271
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Waardenburg Syndrome	Abnormality of the uterus, Abnormal vagina morphology	ORPHA:3440
Ulnar-Mammary Syndrome	Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate hymen, Bicornu...	OMIM:181450
Paternal Uniparental Disomy Of Chromosome 6	Abnormal placenta morphology, Dehydration, Patent ductus arteriosus, Cardiomegaly, Ventricular se...	ORPHA:96191
Leprechaunism	Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ...	ORPHA:508
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:300963
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Osteoporosis, Stereotypical hand wringing, Precocious puberty, Uterine prolapse, Decr...	ORPHA:438213
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave	ORPHA:444072
Limb-Mammary Syndrome	Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Maternal Phenylketonuria	Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal...	ORPHA:2209
Weill-Marchesani Syndrome 2	Congestive heart failure, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ven...	OMIM:608328
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Anemia, Accessory spleen, Premature birth, Splenomegaly, Ventricular septal defect, Polysplenia	OMIM:619418
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus	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, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Cryptorchidism, Hypopl...	ORPHA:709
Codas Syndrome	Polyhydramnios, Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Hypoplastic right heart,...	OMIM:616894
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Breech presentation, Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary...	OMIM:143095
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Cryptorchidism, Micropenis	OMIM:219000
Cowden Syndrome	Adenoma sebaceum, Abnormal penis morphology, Bone cyst, Enlarged polycystic ovaries, Abnormality ...	ORPHA:201
Fraser Syndrome	Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher...	ORPHA:2052
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Accessory spleen, Coloboma,...	OMIM:268300
Meier-Gorlin Syndrome 7	Heart block, Atrial septal defect, Ventricular septal defect, Complete atrioventricular canal def...	OMIM:617063
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Chylothorax, Lymphedema, Hype...	OMIM:163950
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect, Accessory spleen	OMIM:619306
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Pulmonic stenosis, Mitral atresia, Atrial septal defect, Ventricular se...	OMIM:614609
Chime Syndrome	Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Tetralogy of Fallot...	ORPHA:3474
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, Aortopulmonary window, Ventricular septal defect, Pulmonary arterial hypertension	OMIM:620025
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect,...	ORPHA:464306
Jacobsen Syndrome	Aortic valve stenosis, Bone marrow hypocellularity, Premature birth, Thrombocytopenia, Ventricula...	ORPHA:2308
Okamoto Syndrome	Bifid uterus, Splenomegaly	ORPHA:2729
Neu-Laxova Syndrome 1	Decreased fetal movement, Stillbirth, Short umbilical cord, Transposition of the great arteries, ...	OMIM:256520
Mckusick-Kaufman Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H...	ORPHA:2473
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Caesarian section, Ventricular septal defect, Hematochezia	OMIM:619575
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:619525
Simpson-Golabi-Behmel Syndrome	Polyhydramnios, Prolonged QT interval, Cardiomyopathy, Splenomegaly, Bundle branch block, Atrial ...	ORPHA:373
Costello Syndrome	Polyhydramnios, Hypertrophic cardiomyopathy, Pulmonic stenosis, Premature birth, Mitral valve pro...	OMIM:218040
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Chronic neutropenia, Transient neutropenia, Mitral valve pro...	ORPHA:500095
Loeys-Dietz Syndrome	Craniosynostosis, Uterine rupture	ORPHA:60030
Atypical Werner Syndrome	Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Glycosuria, Hyperglycemia, Type...	ORPHA:79474
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus	OMIM:154400
Frank-Ter Haar Syndrome	Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v...	OMIM:249420
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal left ventricle morphology, Abnormal cardiac ventricular function, Patent foramen ovale, ...	ORPHA:466791
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Granuloma, Abnormal heart m...	ORPHA:363700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Cardiospondylocarpofacial Syndrome	Decreased fetal movement, Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tr...	OMIM:157800
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Palpebral edema, Tricuspid regurgitation, Patent ductus arteriosus, Ven...	ORPHA:261337
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Abnormal salivary gland morphology, Bicornuate uterus, Dysphagia, Cryptor...	ORPHA:2363
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Arrhythmia, Atrial septal defect, Ventricular sept...	ORPHA:1519
Myhre Syndrome	Hypertension, Aortic valve stenosis, Pericardial effusion, Patent ductus arteriosus, Atrial septa...	OMIM:139210
Holoprosencephaly 2	Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col...	OMIM:157170
Limb Body Wall Complex	Ectopia cordis, Single umbilical artery, Short umbilical cord, Abnormal heart morphology, Amnioti...	ORPHA:2369
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Abnormal heart morphology, Atrial ...	ORPHA:97360
Neuroocular Syndrome	Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Lens coloboma, Attention defici...	OMIM:619539
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Hypokalemia, Uterine prolapse, Cystocele, Cryptorchidism, Osteolysis	ORPHA:286
Townes-Brocks Syndrome	Hypospadias, Rectovaginal fistula, Abnormal vagina morphology, Hypoplasia of penis, Bifid scrotum...	ORPHA:857
Alobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Abnormal heart morphology, Neural tube defect	ORPHA:220386
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart	OMIM:618748
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Atrial septal defect, Ventricular septal defect, Cephalohematoma, Patent ductus arteriosus	OMIM:620558
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Polyhydramnios, Atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ve...	ORPHA:3047
Diets-Jongmans Syndrome	Polyhydramnios, Ventricular septal defect, Breech presentation	OMIM:618846
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Muscular ventricular septal defect, Breech presentation, Patent foramen ovale, Hypert...	OMIM:210710
Phace Association	Ventricular septal defect, Patent ductus arteriosus	OMIM:606519
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi...	ORPHA:353277
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Compulsive behaviors, Cryptorchidism, A...	OMIM:135900
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib...	ORPHA:99228
Monosomy X	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib...	ORPHA:99226
Turner Syndrome	Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib...	ORPHA:881
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V...	ORPHA:1465
Mosaic Trisomy 20	Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve	ORPHA:1724
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligohydramnios, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Viss Syndrome	Atrial septal defect, Fetal distress, Epidural hemorrhage, Polyhydramnios, Patent foramen ovale, ...	OMIM:619472
Holoprosencephaly 14	Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia	OMIM:619895
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Decrease...	OMIM:276820
Schinzel-Giedion Syndrome	Abnormal heart morphology, Neural tube defect, Umbilical hernia	ORPHA:798
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:600460
Simpson-Golabi-Behmel Syndrome, Type 1	Transposition of the great arteries, Polyhydramnios, Cardiomyopathy, Total anomalous pulmonary ve...	OMIM:312870
Cerebrocostomandibular Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:117650
Pallister-Hall Syndrome	Hydrometrocolpos, Hypospadias, Aplasia/Hypoplasia of the vagina, Pituitary hypothyroidism, Panhyp...	ORPHA:672
Cornelia De Lange Syndrome	Hypospadias, Hypoplasia of penis, Hypoplastic nipples, Compulsive behaviors, Abnormality of the u...	ORPHA:199
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:616682
Keutel Syndrome	Pulmonic stenosis, Ventricular septal defect, Hypertension	OMIM:245150
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Coronary sinus enlargement	OMIM:619268
Neurofibroma	Abnormal biliary tract morphology, Enlargement of parotid gland	ORPHA:252183
Classical Ehlers-Danlos Syndrome	Osteopenia, Cervical insufficiency, Uterine prolapse	ORPHA:287
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Ascites, Portal hypertension, Generalized edema, Sp...	OMIM:243800
Aneurysm-Osteoarthritis Syndrome	Uterine prolapse, Osteoporosis, Left ventricular hypertrophy	ORPHA:284984
Loeys-Dietz Syndrome 3	Osteopenia, Osteoporosis, Uterine prolapse, Left ventricular hypertrophy, Cystocele, Craniosynost...	OMIM:613795
Mowat-Wilson Syndrome	Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Ven...	OMIM:235730
Coffin-Lowry Syndrome	Uterine prolapse	OMIM:303600
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum...	OMIM:601803
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Splenomegaly, Decreased circulating T4 con...	ORPHA:64
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol...	ORPHA:79318

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 21.0 Data