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Gene: Slit3 MGI:1315202

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

slit guidance ligand 3

Synonyms:

b2b2362.1Clo, Slit1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Slit3 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 Slit3 (0 diseases)
Human diseases predicted to be associated with Slit3 (1462 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slit3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent...	OMIM:313850
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp...	ORPHA:26790
Holzgreve Syndrome	Renal agenesis, Hypoplastic left heart, Renal hypoplasia	OMIM:236110
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia...	ORPHA:2140
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneu...	ORPHA:2357
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle...	ORPHA:141152
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd...	OMIM:613630
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Hirschsprung Disease	Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ...	ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Constricting Bands, Congenital	Omphalocele, Ectopia cordis, Bladder exstrophy, Gastroschisis	OMIM:217100
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	ORPHA:131
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe...	OMIM:614399
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Nasogastr...	ORPHA:254864
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car...	OMIM:300580
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple...	ORPHA:77260
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Pulmonary infiltrates, Cough	ORPHA:64741
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Pulmonary hypoplasia, Intestinal malrotation, Cleft palate	OMIM:615524
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai...	ORPHA:67
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnor...	OMIM:601163
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Crackles,...	ORPHA:2902
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia...	ORPHA:2847
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Fe...	OMIM:605809
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra...	OMIM:612946
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Malabsorption	ORPHA:99811
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu...	OMIM:620011
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Microphallus, Tetralogy of F...	OMIM:615542
Perching Syndrome	Respiratory distress, Dysphagia, Feeding difficulties, High palate, Camptodactyly, Joint contracture	OMIM:617055
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Gastroesophageal reflux, Cough, Abdominal pain, Vascu...	ORPHA:183
Hereditary Myopathy With Early Respiratory Failure	Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ...	ORPHA:178464
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Vomiting, Gastroesophageal reflux, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec...	OMIM:620233
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Increased connective tissue, Feeding difficulties ...	ORPHA:238329
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Hy...	OMIM:617661
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea...	OMIM:226300
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormality of the pulmonary artery, ...	ORPHA:1166
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Con...	ORPHA:139466
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Malignant Peritoneal Mesothelioma	Abdominal pain, Dyspnea, Peritonitis, Ileus, Abdominal distention, Weight loss	ORPHA:168811
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestina...	OMIM:243150
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C...	OMIM:613490
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Respiratory insufficiency due ...	OMIM:613561
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Schisis Association	Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Tracheoesophageal fistul...	ORPHA:63862
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle mus...	ORPHA:86812
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	OMIM:616974
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ...	OMIM:208530
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:2141
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal ...	ORPHA:85450
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Renal hypoplasia	OMIM:616589
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro...	ORPHA:254875
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Du...	ORPHA:2470
Limb Body Wall Complex	Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abno...	ORPHA:2369
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, P...	OMIM:601186
Burn-Mckeown Syndrome	Inguinal hernia, Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Atrial s...	OMIM:608572
Non-Syndromic Posterior Hypospadias	Omphalocele, Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Clef...	ORPHA:95706
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Abnormal skeletal muscle mor...	ORPHA:142
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven...	ORPHA:258
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Anorectal anomaly, Trach...	ORPHA:1834
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Proteinuria, Ventricular septal defect, Nephropathy, Nephrocalcinosis, Renal tubula...	OMIM:613404
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Lipodystrophy, Congenital Generalized, Type 4	Flexion contracture, Hepatic steatosis, Hepatomegaly, Centrally nucleated skeletal muscle fibers,...	OMIM:613327
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Feeding difficulties, Myopathy, Cardiomyopathy, Failure to thrive, Hepatic ...	ORPHA:26792
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia	OMIM:254120
Myopathy And Diabetes Mellitus	Respiratory distress, Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotro...	ORPHA:2596
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy,...	ORPHA:91130
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy	OMIM:619099
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Neoplasm of the lung...	ORPHA:2591
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Centrally nucleated skeletal muscle fibers, Atelectasis, Feeding difficulti...	OMIM:300219
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Sec...	ORPHA:2260
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Failu...	ORPHA:367
Orofaciodigital Syndrome Xvii	Micropenis, Tetralogy of Fallot, Renal hypoplasia	OMIM:617926
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c...	ORPHA:91359
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach...	OMIM:263000
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:615595
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ...	ORPHA:324604
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dy...	OMIM:601389
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Acrocallosal Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:36
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Split-Hand/Foot Malformation 3	Renal hypoplasia, Camptodactyly	OMIM:246560
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to...	ORPHA:264675
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:380
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega...	ORPHA:2414
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia	ORPHA:2256
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu...	ORPHA:79127
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu...	OMIM:220210
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H...	OMIM:219700
Cooper-Jabs Syndrome	Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory insufficiency, Anteriorly p...	ORPHA:1488
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia	ORPHA:2143
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, V...	ORPHA:343
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Congenital diaphragmatic hernia	OMIM:300887
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Obesity, Vomiting, Constipatio...	ORPHA:412035
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Anorexia, Non...	ORPHA:1302
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect, Gastroschisis	ORPHA:2476
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon...	ORPHA:244
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Gastrostomy tube feeding in i...	OMIM:620278
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Cach...	ORPHA:83469
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow palate, Aplasia/...	ORPHA:2063
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Mungan Syndrome	Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis	OMIM:611376
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti...	ORPHA:97278
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m...	ORPHA:897
Emanuel Syndrome	Recurrent respiratory infections, Torticollis, Inguinal hernia, Intestinal malrotation, Congenita...	OMIM:609029
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia, Cleft palate, Feeding difficulties, Bifid ...	OMIM:606164
Even-Plus Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia, Atrial septal defect...	OMIM:616854
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Respiratory distress, Failure to thrive, ...	ORPHA:333
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Coarctation of aorta, Abn...	OMIM:618494
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1918
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Feeding difficulties in infancy, Flexion contracture, Lower limb muscle wea...	ORPHA:365
15Q24 Microdeletion Syndrome	Small for gestational age, Congenital diaphragmatic hernia, Obesity, Feeding difficulties, Hernia...	ORPHA:94065
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Grfoma	Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Hepatomegaly, Intermit...	ORPHA:97261
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Atrial septal defect, Ventricular septal defect, Nephropathy, Nephrocalcinosis, Renal tubular aci...	OMIM:208085
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Truncal obesity, H...	ORPHA:284180
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Velopharyngeal insufficiency, Feeding difficulties, Pulmonary hy...	OMIM:300978
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Peripo...	OMIM:263210
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a...	ORPHA:45452
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Dyspnea, Flexion contracture, Shoulder girdle muscle weakness, Pelvic girdle muscle...	OMIM:603511
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Dysphagia, Camptodactyly, Pulmonary arterial hype...	OMIM:619751
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Flexion contracture, Feeding difficulties, Hyper...	OMIM:616733
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Renal hypoplasia, Small thenar eminence, Joint contracture of the 4th finger, Jo...	OMIM:618914
Granulomatosis With Polyangiitis	Sinusitis, Cough, Abdominal pain, Vasculitis, Chronic pulmonary obstruction, Respiratory insuffic...	ORPHA:900
Meckel Syndrome, Type 7	Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis,...	OMIM:267010
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo...	ORPHA:137935
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Renal hypoplasia	ORPHA:75389
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia	OMIM:619053
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylgluta...	OMIM:604273
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Patent ductus arteriosus, Renal hypoplasia, Umbilical hernia, Microp...	ORPHA:171839
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Pseudotrisomy 13 Syndrome	Omphalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular c...	OMIM:264480
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
3-Methylglutaconic Aciduria, Type Iv	Biventricular hypertrophy, Inguinal hernia, 3-Methylglutaric aciduria, Subvalvular aortic stenosis	OMIM:250951
Vacterl Association With Hydrocephalus	Renal hypoplasia, Abnormal heart morphology	OMIM:276950
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Pneumonia, Diarrhea, Productive cough, Groun...	ORPHA:454836
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic he...	OMIM:613177
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Malabsorption, Asthma, Flexion contracture, Ab...	OMIM:601675
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti...	ORPHA:97283
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Gastroschisis	Gastroschisis	ORPHA:2368
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Igg4-Related Aortitis	Abdominal pain, Asthma, Intestinal obstruction, Weight loss	ORPHA:449400
Emanuel Syndrome	Recurrent respiratory infections, Inguinal hernia, Multiple joint contractures, Congenital diaphr...	ORPHA:96170
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmo...	ORPHA:1120
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Abdominal...	ORPHA:160
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Ectopic kidney, Renal hypoplasia, Pulmonic stenosis, Enamel hypoplasia	OMIM:212780
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Shigellosis	Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Vomiting, ...	ORPHA:810
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Cachexia, Respiratory tract...	ORPHA:60033
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi...	OMIM:619611
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Myopathy, Renal tubular acidos...	OMIM:614922
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis	OMIM:615993
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Myositis, Pericarditis, Fasciitis, Abdominal pain, Splenomegaly, Peritoni...	ORPHA:32960
Mitochondrial Complex I Deficiency, Nuclear Type 16	Failure to thrive, Aplasia of the left hemidiaphragm, Feeding difficulties	OMIM:618238
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Failure to thrive, Paralytic ileus, Facial diplegia, Dysphagia, Facial p...	OMIM:613559
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Um...	OMIM:618651
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Feeding difficulties, Macroglossia, ...	OMIM:614608
Congenital Heart Defects And Skeletal Malformations Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Repeated pneumothoraces, Chronic constip...	OMIM:617602
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Constipation	OMIM:617450
Cebalid Syndrome	High palate, Congenital diaphragmatic hernia, Feeding difficulties	OMIM:618774
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Dextrocardia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Midsha...	ORPHA:2863
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal inf...	ORPHA:73263
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Poland Syndrome	Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ...	OMIM:173800
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness	ORPHA:240085
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy...	ORPHA:308552
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to...	OMIM:612075
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteri...	OMIM:618316
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Patent foramen ovale, Rig...	OMIM:614261
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Acute Lung Injury	Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,...	ORPHA:178320
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, Feeding diffi...	OMIM:615042
Proximal 16P11.2 Microduplication Syndrome	Failure to thrive, Decreased body mass index, Congenital diaphragmatic hernia	ORPHA:370079
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Respiratory insufficie...	ORPHA:2311
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Hypospadias, Dextrocardia, Renal hypoplasia, Congenital c...	OMIM:248700
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Feeding difficulties	OMIM:616341
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i...	ORPHA:100079
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her...	OMIM:219100
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Abnormal renal morphology, Vesicoureteral reflux, Renal hypoplasia, Ho...	OMIM:609053
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Intesti...	ORPHA:97280
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, R...	OMIM:614376
Seckel Syndrome 9	Recurrent respiratory infections, Small for gestational age, Congenital diaphragmatic hernia, Ast...	OMIM:616777
Craniofrontonasal Dysplasia	High palate, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1520
Lymphoid Interstitial Pneumonia	Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona...	ORPHA:79128
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Submucous cleft hard palate, Pulmonary hypoplasia, Cleft palate	ORPHA:250999
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia, Hypoplastic left heart, Aortic valve stenosis, Atrial se...	OMIM:617660
C1Q Deficiency 2	Vasculitis in the skin, Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis	OMIM:620321
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Vomiting, ...	ORPHA:319213
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ...	OMIM:617641
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmona...	OMIM:612387
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Hig...	OMIM:608799
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Pneumonia, Recurrent upper respiratory tract infections, Chronic diarrhea...	OMIM:600802
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Diar...	ORPHA:913
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl...	ORPHA:26793
Porphyria Variegata	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Tachycardia, Scarring, Ab...	ORPHA:79473
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Micropenis, Right ventricular hypertrophy	ORPHA:335
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Respiratory distress, Myositis, Recurrent respiratory infections, ...	ORPHA:37042
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Myocardial infa...	ORPHA:342
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Centril...	OMIM:265450
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate	ORPHA:1832
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Renal hypoplasia	ORPHA:254913
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect	OMIM:615731
Vacterl/Vater Association	Omphalocele, Congenital diaphragmatic hernia, Abnormality of the pancreas, Anorectal anomaly, Abn...	ORPHA:887
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon...	ORPHA:133
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Portal vein thrombosis, Pulmonary embolism	ORPHA:82
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Cleft palate, Feeding difficulties, G...	ORPHA:261197
Sanjad-Sakati Syndrome	Myopathy, Intestinal obstruction, Recurrent respiratory infections, Abnormal dental enamel morpho...	ORPHA:2323
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pu...	ORPHA:36238
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Small for gestational age, Intestinal malrotation, Conge...	ORPHA:2255
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex congenita, Renal dysplasia	OMIM:236500
Arterial Tortuosity Syndrome	Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmonary ...	OMIM:208050
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia, Hernia	ORPHA:1745
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Lowry-Maclean Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Abnormality of the abdominal organs, High, narr...	ORPHA:2409
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Adams-Oliver Syndrome 5	Inguinal hernia, Splenomegaly, Right ventricular hypertrophy, Pulmonic stenosis, Umbilical hernia...	OMIM:616028
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Congenital diaphragmatic hernia, Achilles tendon contracture, Feeding difficul...	ORPHA:363528
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Paralytic ileus, Upper limb muscle weakness, ...	ORPHA:254930
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Maternal Phenylketonuria	Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a...	ORPHA:2209
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,...	OMIM:173900
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Camptodactyly of finger	ORPHA:896
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney	ORPHA:83473
Lambert Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias	ORPHA:1296
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Celluliti...	ORPHA:238459
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement	OMIM:115210
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduc...	ORPHA:586
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Prune belly, Ventricular septal defect, Unilateral renal agenesis	OMIM:618504
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste...	ORPHA:226313
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive, Feeding difficulties	OMIM:300934
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis...	OMIM:611812
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormality of the urinary system, H...	ORPHA:2184
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema...	ORPHA:79
Complete Atrioventricular Septal Defect	Crackles, Tachypnea, Atrioventricular block, Abnormal EKG, Hepatomegaly, Intercostal retractions,...	ORPHA:1329
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir...	ORPHA:98915
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive, Vomiting	OMIM:237310
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Clef...	ORPHA:2059
Pentalogy Of Cantrell	Omphalocele, Hypospadias, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventr...	ORPHA:1335
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small thenar eminence, Hyd...	OMIM:613390
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Paget Disease Of Bone 6	Left ventricular hypertrophy, Nephrocalcinosis	OMIM:616833
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten...	OMIM:615415
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Congenital diaphragmatic hernia, Cutaneous telangiectasia, Dysphagia...	OMIM:615919
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Tracheomalacia, Umbilical hernia	ORPHA:1001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, ...	ORPHA:79312
Porphyria, Acute Intermittent	Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Respiratory paralysis, Vomi...	OMIM:176000
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Abnormal mesentery morphology, Abnormality of the gallbladder, C...	ORPHA:2075
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy	ORPHA:444013
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ...	ORPHA:3426
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Umbilical hernia, Renal hypoplasia, Absence of renal corticomedull...	OMIM:619758
Poliomyelitis	Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu...	ORPHA:2912
Acute Intermittent Porphyria	Nausea and vomiting, Proximal muscle weakness in upper limbs, Tachycardia, Abdominal pain, Abdomi...	ORPHA:79276
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Cloacal abnormality, Hydroureter, Fetal pyelec...	ORPHA:49
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Cach Syndrome	Arthrogryposis multiplex congenita, Flexion contracture, Renal hypoplasia, Hepatosplenomegaly	ORPHA:135
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia	OMIM:606764
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Diamond-Blackfan Anemia 10	Respiratory distress, Congenital diaphragmatic hernia, Cleft palate, Morgagni diaphragmatic hernia	OMIM:613309
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrio...	OMIM:115197
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia	ORPHA:1423
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Failure to thrive, Intestinal malrotation, Congenital diaphr...	OMIM:600001
Donnai-Barrow Syndrome	Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia, Diaphragm...	OMIM:222448
Meckel Syndrome 12	Ureteral hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Renal hypoplasia	OMIM:616258
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Respiratory distress, Respiratory f...	OMIM:211530
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ...	ORPHA:1926
Joubert Syndrome 18	Ventricular septal defect, Horseshoe kidney, Renal cyst, Camptodactyly	OMIM:614815
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Meacham Syndrome	Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t...	ORPHA:3097
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy...	ORPHA:2038
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desquamative interstit...	OMIM:265120
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir...	ORPHA:95430
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Obesity, Weight loss, High palate, Hy...	ORPHA:251071
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy...	ORPHA:90068
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Cardiac arrest, Feeding difficulties, Myopathy, High palate, ...	OMIM:604377
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, ...	ORPHA:2516
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Co...	ORPHA:261344
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HRCT, Dyspnea, ...	ORPHA:99931
Duane-Radial Ray Syndrome	Renal malrotation, Ventricular septal defect, Facial palsy, Renal agenesis, Vesicoureteral reflux...	OMIM:607323
Esophageal Atresia	Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ...	ORPHA:1199
Focal Dermal Hypoplasia	Acute hepatic failure, Omphalocele, Inguinal hernia, Telangiectasia of the skin, Diastasis recti,...	ORPHA:2092
Hypoglossia With Situs Inversus	Respiratory distress, Asplenia, Feeding difficulties in infancy, Malnutrition, Upper airway obstr...	OMIM:612776
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc...	ORPHA:401935
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:618454
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Tracheoesophageal fistula, Aplasia of the left hemidiaphragm...	ORPHA:2437
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, High palate, Bradycardia, Pulmona...	OMIM:619272
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Limited Cutaneous Systemic Sclerosis	Nausea and vomiting, Telangiectasia of the skin, Foot joint contracture, Gastroesophageal reflux,...	ORPHA:220402
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Renal hypoplasia, Tubuloin...	OMIM:617595
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63260
Syndromic Diarrhea	Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Rena...	ORPHA:84064
Bresek Syndrome	Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Renal hypoplasia	ORPHA:85284
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Crackles, Portal hypertension, Nodular regenerative hyperplasia of...	ORPHA:210136
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Inguinal hernia, Renal hypoplasia, Hydronephrosis	OMIM:613735
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Abnormal lung lobation, Trache...	ORPHA:958
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Succinic Acidemia	Respiratory distress	OMIM:600335
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding...	ORPHA:927
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyski...	OMIM:244400
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas...	ORPHA:538
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase...	ORPHA:90060
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Zaki Syndrome	Renal agenesis, Patent foramen ovale, Hydronephrosis, Congenital diaphragmatic hernia	OMIM:619648
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Feeding difficult...	ORPHA:3260
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F...	OMIM:160900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation...	ORPHA:371428
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip...	OMIM:607598
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio...	ORPHA:329178
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul...	ORPHA:199241
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Feeding difficulties,...	OMIM:617239
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi...	ORPHA:2326
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Recurrent respiratory infections, Microvesicular hepatic steatosis, Atelectasis, Ta...	OMIM:618278
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Nipah Virus Disease	Respiratory distress, Nausea and vomiting, Anorexia, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Renal insufficiency, Renal hypoplasia, Umbilical hernia, Renal dysplasia	ORPHA:85321
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Acute infantile spinal muscular atrophy, Flexion con...	OMIM:271225
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, Left ventricul...	OMIM:619167
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Multiple joint contractures, Inguinal hernia, Congenital diaphragm...	OMIM:265000
Perlman Syndrome	Distal ileal atresia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of t...	OMIM:267000
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Abdominal pain, Feeding difficulti...	OMIM:620166
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Atelectasis, Recurrent pneumonia, Air bronchogram, Rec...	OMIM:306400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Congenital diaphragmatic hernia, Large for gestational age, Cleft palate, Gastroes...	OMIM:614080
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hypospadias	OMIM:618330
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Renal hypoplasia	OMIM:616817
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia	OMIM:617914
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Cleft palate, Feeding difficulties, Glossoptosis, Microglossia	OMIM:614669
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Dilation of Virchow-Robin spaces, Unilateral renal hypoplasia	OMIM:619955
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, High palate, Pulmonary hypoplasia, Cleft palate	OMIM:612530
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Cleft palate, Feeding difficulties, G...	OMIM:616364
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Mosaic Trisomy 1	Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl...	ORPHA:1692
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Flexion contracture	OMIM:618201
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypopla...	OMIM:616541
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Dyspnea, Congestive heart failure...	ORPHA:220393
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba...	ORPHA:99095
Li-Campeau Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Micropenis, Patent for...	OMIM:619189
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Renal hypoplasia	ORPHA:464288
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Intestinal malrotation, Hamartoma of tongue, Splenome...	OMIM:269860
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia...	ORPHA:3440
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Malaria	Respiratory distress, Nausea and vomiting	ORPHA:673
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Cleft palate	ORPHA:1915
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Atrial ...	OMIM:249270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Chronic diarrhea, Ileus, Hepatitis, Failure to thrive	OMIM:304790
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Hypertrophi...	OMIM:220110
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
White-Sutton Syndrome	Abnormality of the gastrointestinal tract, Ventral hernia, Inguinal hernia, Facial hypotonia, Con...	ORPHA:468678
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Ventricular septal defect, Hypospadias, Vesicoureteral reflux, Micr...	OMIM:301056
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Cough, Atelectasis, Cleft palate, Cellulitis	ORPHA:2314
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:98914
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
High Altitude Pulmonary Edema	Nausea and vomiting, Orthopnea, Tachycardia, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, C...	ORPHA:330012
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly	OMIM:614741
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia...	ORPHA:210122
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Vesicoureteral reflux, Renal hypoplasia, Microphallus, Atrial septal de...	OMIM:603467
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Feeding difficulties in infancy, T...	ORPHA:2745
Sepsis In Premature Infants	Abnormal mucociliary clearance, Gastrointestinal dysmotility, Vomiting, Abnormal bleeding, Hepato...	ORPHA:90051
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Congenital contracture, Ileus, High palate	OMIM:620156
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Rectovaginal fistula, Tracheoesophageal fistula, Anal atresia	ORPHA:1780
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation, Cachexia	ORPHA:52503
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Reticular pattern on pulmonary HRCT, Gastroesophageal reflux, Pulmonary fibros...	OMIM:614742
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Eunuchoid habitus, Dysphagia	ORPHA:98805
Alagille Syndrome 1	Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ve...	OMIM:118450
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Renal tubular dysf...	OMIM:614886
Congenital Myopathy 21 With Early Respiratory Failure	Inguinal hernia, Dyspnea, Lipoid pneumonia, EMG: myopathic abnormalities, Respiratory failure, No...	OMIM:620326
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ...	ORPHA:1727
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive, Lipoatrophy, Feeding difficulties	ORPHA:261304
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectorali...	ORPHA:3138
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Respiratory distress, Microvesicular hepatic stea...	OMIM:256810
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas...	ORPHA:51636
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Abdominal pain, Dyspnea, Hypoxemia, Syncope, Vomiting, Palpita...	ORPHA:464453
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Respiratory di...	ORPHA:537
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hyp...	ORPHA:2461
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona...	OMIM:614294
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Ventricular septal defect, Distal urethral duplication, Ectopic kid...	OMIM:146510
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arthrogry...	ORPHA:163746
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Flexion contracture, Feedin...	OMIM:619383
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Abdominal pain, Dil...	ORPHA:563
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Recurrent respiratory infections, Congestive heart fai...	ORPHA:3309
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring...	OMIM:601927
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux	ORPHA:228399
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Cornelia De Lange Syndrome 1	Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Hiatus ...	OMIM:122470
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ...	OMIM:615512
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Mercury Poisoning	Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Resp...	ORPHA:330021
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Oromandibular Dystonia	Respiratory distress, Torticollis, Dysphagia, Weight loss	ORPHA:93958
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Patent ...	OMIM:613680
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, Scapular winging, Hip contracture, Limb joint contracture, Sh...	OMIM:620369
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Atelecta...	ORPHA:536467
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,...	OMIM:614299
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Vomiting, C...	OMIM:300352
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613876
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facial palsy, Hypospadias, ...	ORPHA:508498
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ...	OMIM:276700
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Esophageal atres...	ORPHA:3380
Holoprosencephaly	Omphalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Feeding difficulties ...	ORPHA:2162
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abnormality of the ureter, Abnor...	ORPHA:1666
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Al Amyloidosis	Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He...	ORPHA:85443
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia	ORPHA:254534
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:619607
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Persistent fetal circulation, Large for gestat...	ORPHA:363705
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Moebius Syndrome	Respiratory distress, Feeding difficulties in infancy, Congenital fibrosis of extraocular muscles...	OMIM:157900
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Tularemia	Respiratory distress, Tachycardia, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmon...	ORPHA:3392
Congenital Myopathy 17	Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Ureteropelvic junct...	OMIM:618975
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Trigonocephaly With Short Stature And Developmental Delay	Inguinal hernia, Ventricular septal defect	OMIM:314320
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Stt3B-Cdg	Respiratory distress, Failure to thrive, Feeding difficulties	ORPHA:370924
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Poor appet...	ORPHA:97287
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Cleft palate, Anteriorly placed ...	OMIM:309801
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Inguinal hernia, Congenital diaphragmatic hernia, High palate, Brady...	OMIM:614437
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Inguinal hernia, Flexion contracture, Feeding difficulties, Failure to thri...	ORPHA:544503
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphalangeal thumb j...	OMIM:613870
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Congenital Tracheal Stenosis	Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Abnormal...	ORPHA:141127
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Decreased body weight, Apnea, Splenomegaly, Hepatosplenomegal...	OMIM:608013
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Tracheoesophageal fistula, Congenital diaphragmatic hernia	ORPHA:268249
Episodic Ataxia Type 1	Respiratory distress, Calf muscle hypertrophy, Nausea	ORPHA:37612
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Pagod Syndrome	Omphalocele, Sudden cardiac death, Congenital diaphragmatic hernia, Abnormality of the spleen, Pu...	ORPHA:991
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Failure to thrive, Feeding difficulties	OMIM:615597
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Intermittent hype...	ORPHA:348
Relapsing Polychondritis	Pericarditis, Dyspnea, Myocarditis, Atelectasis, Hepatitis, Large vessel vasculitis, Anteriorly p...	ORPHA:728
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Ventricular septal defect	ORPHA:3369
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Bacterial Toxic-Shock Syndrome	Respiratory distress, Shock, Myositis, Sinusitis, Tachycardia, Pneumonia, Fasciitis, Abdominal pa...	ORPHA:36234
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia	ORPHA:1647
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pul...	OMIM:273395
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Recurrent respiratory infe...	ORPHA:75249
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia, Abnormal heart morphology, Pulmonic stenosis, Camptodactyly	ORPHA:314679
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Osteogenesis Imperfecta	Aortic regurgitation, Intestinal obstruction, Neonatal respiratory distress, Inguinal hernia, Abn...	ORPHA:666
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Patent foramen ovale, Hypertrophy of the urinary bladder, Unilateral renal dysplasia...	ORPHA:280633
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Dyspnea...	ORPHA:2759
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei...	ORPHA:411709
Primary Pulmonary Hypoplasia	Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect...	ORPHA:2257
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Restrictive Dermopathy 2	Respiratory distress, Rectal prolapse, Gastroesophageal reflux, Feeding difficulties	OMIM:619793
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Vomiting, Failure to t...	OMIM:251000
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Aganglionic megacolon, Short-segment aganglionic megacolon, Portal hypertension, Ile...	OMIM:609136
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Diaphanospondylodysostosis	Respiratory distress, Cleft palate	ORPHA:66637
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Respiratory distress, Apnea...	ORPHA:17
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:615486
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Renal cyst	OMIM:611134
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Hypospadias, Coarctation of aorta	ORPHA:1923
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis, Umbili...	ORPHA:2241
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Pancreatitis, Nausea and vomiting	ORPHA:289916
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse...	OMIM:115470
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Ventricular septal defect, Renal cyst, Horseshoe kidney, Abnormal vena cava morp...	ORPHA:166035
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Hydroureter, Hypospadias, Diastasis recti, Bicuspid aortic valve, Parachute mitral v...	OMIM:265380
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diap...	ORPHA:2556
Hereditary Angioedema Type 1	Respiratory distress, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Dyspnea,...	ORPHA:100050
22Q11.2 Deletion Syndrome	Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal refl...	ORPHA:567
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia	OMIM:615482
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Respiratory distress, Neonatal ...	OMIM:260400
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Vomiting, Cough, Ecchymosis, Internal hemorrhage, ...	ORPHA:340
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Congestiv...	ORPHA:90308
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Inhalational Anthrax	Respiratory distress, Dyspnea, Vomiting, Hypotension, Internal hemorrhage	ORPHA:247257
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pericarditis, Pneumonia, Anore...	ORPHA:781
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Wolcott-Rallison Syndrome	Atrial septal defect, Renal insufficiency, Double outlet right ventricle, Chronic kidney disease	ORPHA:1667
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen, Feeding difficulties, Dysphagia	ORPHA:89844
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure...	OMIM:261740
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart	ORPHA:2772
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal a...	ORPHA:90324
Holocarboxylase Synthetase Deficiency	Respiratory distress, Nausea and vomiting, Anorexia, Tachypnea, Weight loss	ORPHA:79242
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Aortopulmonary window, Pulmonary arterial hypertensi...	OMIM:620025
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis	ORPHA:3306
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Meckel Syndrome 13	Flexion contracture, Polycystic kidney dysplasia	OMIM:617562
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ca...	ORPHA:99776
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie...	ORPHA:1770
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosi...	OMIM:617913
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Horseshoe kidney	OMIM:218350
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Diets-Jongmans Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Umbilical hern...	OMIM:618846
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Feeding difficu...	ORPHA:137914
Andersen-Tawil Syndrome	Renal tubular dysfunction, Dilated cardiomyopathy, Renal hypoplasia	ORPHA:37553
Folinic Acid-Responsive Seizures	Respiratory distress, Abdominal distention, Apnea	ORPHA:79097
Tetanus	Respiratory distress, Tachycardia, Bowel incontinence, Abdominal pain, Tachypnea, Hypertension, B...	ORPHA:3299
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cleft palate, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Hamartoma of tongue	OMIM:616546
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Retinal telangiectasia, Pulmonary embolism, Cholecystitis, Intestina...	ORPHA:774
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Renal hypoplasia/aplasia	ORPHA:2345
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Ventricular septal defect, Coarctation of aorta	OMIM:620210
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertension, Unilateral rena...	ORPHA:49041
Infantile Krabbe Disease	Respiratory distress, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Abnorm...	ORPHA:206436
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts...	ORPHA:284
Simpson-Golabi-Behmel Syndrome	Omphalocele, Ureteral duplication, Inguinal hernia, Hypoplasia of penis, Multicystic kidney dyspl...	ORPHA:373
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
3C Syndrome	Inguinal hernia, Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology...	ORPHA:7
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni...	OMIM:617516
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture...	ORPHA:314588
Arterial Tortuosity Syndrome	Respiratory distress, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial inf...	ORPHA:3342
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Congestive he...	OMIM:617303
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Peritonitis, Pleural...	ORPHA:1546
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Abnormal capillary physiology, Upper airway obstruction	ORPHA:100057
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ...	ORPHA:163956
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abno...	ORPHA:329224
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaire...	ORPHA:2004
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Ca...	OMIM:245600
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter...	ORPHA:116
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Respiratory distress, Facial hypotonia, Apnea, Cardiac...	ORPHA:2131
Fryns Syndrome	Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for ...	OMIM:229850
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Abnormal bleeding, Congestive heart failure, Flexion contracture, Recurrent...	OMIM:616271
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong...	ORPHA:2322
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
Idiopathic Pulmonary Arterial Hypertension	Abnormality of connective tissue, Right ventricular hypertrophy	ORPHA:275766
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
7Q11.23 Microduplication Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Obesity, Chronic constipation, High palate, Tra...	ORPHA:96121
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia	OMIM:608776
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Patent ductus arteriosus, Renal hypoplasia, Renal cyst	OMIM:616300
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Abnormal...	ORPHA:500159
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Abnormal heart morphology, Contractures of the large joi...	ORPHA:96092
Diaphanospondylodysostosis	Respiratory distress, Inguinal hernia, Respiratory insufficiency, Cleft palate, Abnormal liver lo...	OMIM:608022
Iniencephaly	Omphalocele, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita, Anal atresia, D...	ORPHA:63259
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Abnormality of the gallbladder...	ORPHA:280
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Hepatosplenomegaly, Chronic constipat...	ORPHA:79330
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Inguinal hernia, Ventricular se...	OMIM:280000
Agnathia-Otocephaly Complex	Respiratory distress, Aglossia, Cleft palate, Pulmonary hypoplasia, Tracheomalacia, Microglossia	OMIM:202650
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Dextroca...	OMIM:613686
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Cutaneous leiomyosarcoma, Renal cyst	OMIM:135150
Ellis Van Creveld Syndrome	Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia...	ORPHA:289
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Pulmonary fibrosi...	OMIM:612852
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Gm1 Gangliosidosis	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Ap...	ORPHA:354
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Distal Deletion 15Q	Small for gestational age, Congenital diaphragmatic hernia, Bifid tongue, Cleft palate, Pulmonary...	ORPHA:1596
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Nausea and vomiting, First degree atrioventricu...	ORPHA:509
Axial Osteomalacia	Myopathy, Renal cyst	OMIM:109130
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Renpenning Syndrome 1	Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Tetralogy of Fallot, Re...	OMIM:309500
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Micropenis, Dextrocardia, Coarctation of aorta	OMIM:618929
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu...	OMIM:612562
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis...	ORPHA:1018
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Vomiting, Pulmonary hypoplasia, Hepatic periportal ...	OMIM:231680
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Bladder Exstrophy And Epispadias Complex	Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder ex...	OMIM:600057
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Atrial septal defect, Umbilic...	OMIM:619769
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Joubert Syndrome 20	Renal cyst	OMIM:614970
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:2315
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Flexion c...	ORPHA:261290
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Elbow flexion contracture, Narrow palate, High palate, Pulmonary...	OMIM:200980
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat...	OMIM:220500
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Feedin...	ORPHA:818
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Ventricular septal defect	OMIM:602501
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Ventricular septal defect, Bicuspid aortic valve, Hypos...	ORPHA:261494
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Multiple Osteochondromas	Hemothorax, Intestinal obstruction, Pneumothorax, Dysphagia	ORPHA:321
Cirrhotic Cardiomyopathy	Abnormal bleeding, Hepatomegaly, Prolonged QT interval, Elevated jugular venous pressure, Left ve...	ORPHA:57777
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Feeding difficulties, Submucous clef...	OMIM:301022
Poland Syndrome	Duplicated collecting system, Atrial septal defect, Hypospadias, Dextrocardia, Congenital diaphra...	ORPHA:2911
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Ureteral...	OMIM:208540
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Apnea, Feeding difficulties, Hypopnea, Gastr...	OMIM:618426
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Inguinal hernia, Ventricular septal defect, Renal cyst, Mitral valve prolapse,...	OMIM:617107
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Apnea, Cardiac conduction abnormality, Dyspnea, Ragged-red muscl...	ORPHA:255210
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni...	ORPHA:314655
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy...	ORPHA:3378
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Ventricular septal defect	ORPHA:93267
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Vasculitis, Hematuria, Aortic dissection, Double outlet right ...	ORPHA:397
Nocardiosis	Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonprod...	ORPHA:31204
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of penis	ORPHA:2328
Congenital Enterovirus Infection	Respiratory distress, Abnormal bleeding, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hyp...	ORPHA:292
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Suleiman-El-Hattab Syndrome	Inguinal hernia, Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Hydroneph...	OMIM:618950
Rauch-Steindl Syndrome	Hepatomegaly, Hyperechogenic kidneys, Bilateral renal hypoplasia	OMIM:619695
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A...	OMIM:618733
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatomegaly, Hypospadias, Car...	OMIM:312870
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, High, narrow palate, Feeding difficulties, Respiratory failure, Fa...	ORPHA:2707
Kniest Dysplasia	Respiratory distress, Hip contracture, Inguinal hernia, Cleft palate, Tracheomalacia, Umbilical h...	OMIM:156550
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Ventricular septal defect	OMIM:601357
Van Maldergem Syndrome 1	Hypospadias, Renal hypoplasia, Camptodactyly	OMIM:601390
Craniofrontonasal Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Cleft palate	OMIM:304110
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Umbilica...	OMIM:617751
Williams-Beuren Syndrome	Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Atrial septa...	OMIM:194050
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Aymé-Gripp Syndrome	Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly	ORPHA:1272
Van Maldergem Syndrome 2	Inguinal hernia, Hypospadias, Renal hypoplasia, Micropenis	OMIM:615546
Phakomatosis Pigmentokeratotica	Unilateral renal hypoplasia, Nephroblastoma, Rhabdomyosarcoma, Renal transitional cell carcinoma	ORPHA:2874
Charge Syndrome	Omphalocele, Overriding aorta, Ventricular septal defect, Facial palsy, Renal agenesis, Secundum ...	OMIM:214800
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Omphalocele, Pulmonary hypoplasia	OMIM:617895
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Hypo...	OMIM:270400
Degcags Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Bilateral renal dyspl...	OMIM:619488
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Inguinal hernia, Abnormal dental enamel morphology, Malabsorpti...	ORPHA:534
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria	ORPHA:445038
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Hypospadias	ORPHA:96097
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Vesicoureteral reflux, ...	OMIM:617159
Carnitine Palmitoyltransferase Ii Deficiency	Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosi...	ORPHA:157
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Nausea, ...	ORPHA:31826
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Elevated hepatic transaminase, Failure to thrive, Congestive heart failure,...	OMIM:617156
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Femoral-Facial Syndrome	Inguinal hernia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney, Polycysti...	ORPHA:1988
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney diseas...	OMIM:620305
Brachydactyly, Type B1	Micropenis, Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Okamoto Syndrome	Omphalocele, Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence,...	ORPHA:2729
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Coarct...	OMIM:600460
8Q24.3 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:508488
Digeorge Syndrome	Inguinal hernia, Femoral hernia, High, narrow palate, Splenomegaly, Chronic pulmonary obstruction...	OMIM:188400
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte...	ORPHA:2306
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosu...	OMIM:608149
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly, Feeding difficulties in infancy, Vomiting, Failure to thrive	OMIM:251110
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Carpenter Syndrome 1	Omphalocele, Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Joint contracture ...	OMIM:201000
Hughes-Stovin Syndrome	Nausea and vomiting, Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pu...	ORPHA:228116
C Syndrome	Omphalocele, Failure to thrive in infancy, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of...	ORPHA:1308
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
15Q14 Microdeletion Syndrome	Atrial septal defect, Inguinal hernia, Ventricular septal defect	ORPHA:261190
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Joubert Syndrome 39	Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Cleft palate, Gastroe...	OMIM:301044
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect	ORPHA:452
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, S...	ORPHA:97214
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Renal hypoplasia, Coarctation of aorta, Small then...	OMIM:105650
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Atrial septal d...	OMIM:277380
Listeriosis	Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Abdominal pain, Congestive heart fa...	ORPHA:533
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Bowel incontinence, Congestive heart failure, Respiratory fa...	OMIM:616482
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Dentinogenesis impe...	OMIM:184260
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Pulmonary edema, Facial palsy, Anorexia, Abdominal...	ORPHA:79139
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Renal hypoplasia	OMIM:620005
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria	OMIM:616901
Stromme Syndrome	Myopathy, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Glutaric aciduria, Rhabdomyolysis, Lacticaciduria, Abn...	ORPHA:26791
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Ventricular septal defect, Nephronophthisis	OMIM:615630
Coffin-Siris Syndrome 1	Inguinal hernia, Hydroureter, Ventricular septal defect, Hypospadias, Congenital diaphragmatic he...	OMIM:135900
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Cardiospondylocarpofacial Syndrome	Gastroparesis, Congenital diaphragmatic hernia, Feeding difficulties, Mitral regurgitation, Gastr...	OMIM:157800
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux	OMIM:615879
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small for gestational age, Recurrent pneumonia, Recurrent upper respiratory...	OMIM:607143
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Odontochondrodysplasia	Respiratory distress, Dentinogenesis imperfecta	ORPHA:166272
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia	OMIM:620306
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tubular epitheli...	ORPHA:228308
Mgat2-Cdg	Respiratory distress, Abnormal bleeding, Gastroparesis, Feeding difficulties, Gastroesophageal re...	ORPHA:79329
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu...	OMIM:618223
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Abnormality of the pancreas, Cleft palate, Narrow palate, Anteriorly placed...	ORPHA:1555
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect, Renal cyst	OMIM:614424
Woods Syndrome	Ventricular septal defect	OMIM:615236
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Necrotizing Enterocolitis	Gastroschisis, Abnormal heart morphology	ORPHA:391673
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Aganglionic megacolon, Cleft palate	OMIM:154400
Monosomy 9P	Hernia, Congenital diaphragmatic hernia, High palate, Cleft palate	ORPHA:261112
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Cleft palate, Anteriorly placed anus, Cardio...	OMIM:217980
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Proximal tubulopa...	OMIM:614576
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Acute Transverse Myelitis	Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, Paralytic ileus, Upper limb musc...	ORPHA:139417
Cystic Echinococcosis	Renal cyst, Abnormal heart morphology, Ovarian cyst, Membranous nephropathy, Abnormality of the d...	ORPHA:400
Meier-Gorlin Syndrome 1	Respiratory distress, Failure to thrive, Small for gestational age, Feeding difficulties in infan...	OMIM:224690
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr...	OMIM:613001
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis	OMIM:181270
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr...	ORPHA:93259
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Facial hypotonia, Feeding difficulties in infancy, High palate, Respiratory distress	ORPHA:438216
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio...	OMIM:615273
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Pachyonychia Congenita	Respiratory distress, Failure to thrive, Oral leukoplakia, Feeding difficulties	ORPHA:2309
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyo...	OMIM:616897
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Car...	OMIM:608836
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:290
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti...	OMIM:300166
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, High, narrow palate,...	OMIM:612863
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Hypospa...	ORPHA:2008
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Abno...	ORPHA:500095
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Orthopnea, Abnormal hemidiaphragm...	ORPHA:980
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Atrial septal defect, Patent f...	OMIM:615668
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Peritonitis, Vasculitis...	ORPHA:228123
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Neurogenic bladder, Renal insuffici...	ORPHA:191
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Protuberant abdomen	OMIM:617102
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Osteogenesis Imperfecta, Type X	Respiratory distress, Inguinal hernia, Pyloric stenosis, Recurrent pneumonia, Dentinogenesis impe...	OMIM:613848
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia...	OMIM:617022
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Spastic Paraplegia Type 2	Recurrent respiratory infections, Bowel incontinence, Pulmonary embolism	ORPHA:99015
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Sterile pyur...	ORPHA:2331
Tetraamelia Syndrome 2	Micropenis, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Radio-Renal Syndrome	Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff...	ORPHA:3015
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Velocardiofacial Syndrome	Inguinal hernia, Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Um...	OMIM:192430
Cornelia De Lange Syndrome	Intestinal malrotation, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Pyloric...	ORPHA:199
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos...	ORPHA:369891
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Lymphangiectasis, Renal cyst	OMIM:602579
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Atri...	OMIM:603387
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic...	ORPHA:1051
Meckel Syndrome, Type 2	Omphalocele, Renal cyst	OMIM:603194
Fanconi Anemia, Complementation Group L	Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect, Abnormal medullary pyramid morphology	ORPHA:79243
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly, Feeding difficulties in infancy, Vomiting, Failure to thrive	OMIM:251100
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Inguinal hernia, Failure to thrive, Biliary hyperplasia, Pylo...	ORPHA:83617
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr...	ORPHA:93260
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst, Camptodactyly	OMIM:614175
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Hiatus her...	OMIM:305600
Chromosome 9P Deletion Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, P...	OMIM:158170
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Pelger-Huet Anomaly	Umbilical hernia, Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:610733
Familial Chylomicronemia Syndrome	Nausea and vomiting, Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosp...	ORPHA:444490
Colchicine Poisoning	Respiratory distress, Congestive heart failure, Myocarditis, Diarrhea, Hypovolemia, Cardiorespira...	ORPHA:31824
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Int...	ORPHA:99827
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Esophageal atresia, Feeding difficulties in infancy, Cleft palate	OMIM:610536
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Myositis, Pericarditis, Nausea and vomiting, M...	ORPHA:117
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal...	ORPHA:2538
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Fanconi Anemia, Complementation Group N	Nephroblastoma, Ventricular septal defect	OMIM:610832
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia	OMIM:617260
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Fanconi Anemia, Complementation Group B	Renal agenesis, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Microp...	OMIM:300514
Fraser Syndrome 1	Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Abnormal heart morphology, Micropenis, A...	OMIM:219000
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anom...	ORPHA:466791
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Horseshoe kidney, Ves...	OMIM:619103
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Hypospadias	ORPHA:77298
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema	OMIM:617300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral renal agenesis, Pat...	ORPHA:464311
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Micropenis	ORPHA:2519
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur...	ORPHA:2438
Knobloch Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter, Dextrocardia	ORPHA:1571
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Anorexia, Splenomegaly, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary inte...	OMIM:181000
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Tetr...	OMIM:612582
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Nephrolithiasis, Ventricular septal defect, Intracranial hemorrhage	ORPHA:369929
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Asplenia, Nasogastric tube feeding in infan...	ORPHA:221120
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd...	ORPHA:99921
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydronephrosis	ORPHA:457193
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis...	OMIM:235255
Kinsship Syndrome	Renal hypoplasia, Horseshoe kidney	OMIM:619297
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Coa...	ORPHA:2044
Witteveen-Kolk Syndrome	Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Feeding difficulties...	OMIM:613406
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Ventricular septal defect, Hypospadias, Abnormal heart morphology	ORPHA:494344
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Camptodactyly	OMIM:301039
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis...	ORPHA:369837
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta...	ORPHA:2876
Chromosome 18Q Deletion Syndrome	Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Patent d...	OMIM:601808
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Atrial septal defect, Hydronephrosis	OMIM:616449
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Opitz Gbbb Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Rectourethral fistula, Congenital poster...	OMIM:300000
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Proteinuria, Pericardial effusion, Flexion contracture, Renal cyst, Stroke-like epi...	OMIM:212065
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Beckwith-Wiedemann Syndrome	Omphalocele, Diastasis recti, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinos...	OMIM:130650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Atrial septal defect, Patent foramen ovale, Facial palsy, Right ventricular hypertrophy	OMIM:620186
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Embryonal rhabdomyosarcoma, Renal cyst...	OMIM:257300
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Failure to thrive	ORPHA:50810
C Syndrome	Omphalocele, Patent ductus arteriosus, Ventricular septal defect, Renal cortical cysts	OMIM:211750
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Dilated cardiomyopathy, Pneumotho...	ORPHA:79404
Peroxisome Biogenesis Disorder 2A (Zellweger)	Abnormal heart morphology, Aminoaciduria, Polycystic kidney dysplasia, Camptodactyly, Joint contr...	OMIM:214110
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhag...	ORPHA:536545
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidney, Pulmonary artery s...	ORPHA:96167
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Abnormality of the ...	OMIM:244300
Kasabach-Merritt Syndrome	Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Prolonged prothrombin time,...	ORPHA:2330
Codas Syndrome	Hydroureter, Ventricular septal defect	ORPHA:1458
Ogden Syndrome	Inguinal hernia, Pulmonary artery stenosis, Ventricular septal defect, Torticollis	ORPHA:276432
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula...	OMIM:618775
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Cleft palate, Feeding difficulties, Bifid...	OMIM:300968
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Zellweger Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hypospadias	ORPHA:912
Secondary Short Bowel Syndrome	Gastroschisis, Atherosclerosis	ORPHA:95427
Auriculocondylar Syndrome	Respiratory distress, Hamartoma of tongue, Cleft palate, Feeding difficulties, Glossoptosis, Micr...	ORPHA:137888
Chand Syndrome	Atelectasis, Bifid tongue, Cleft palate	ORPHA:1401
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Atrial septal defect, Ar...	ORPHA:85201
Gitelman Syndrome	Neoplasm of the pancreas, Respiratory distress, Prolonged QT interval, Nausea and vomiting, Abdom...	ORPHA:358
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ...	ORPHA:79282
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Diaphragmatic eventrat...	OMIM:619503
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Omphalocele, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Catel-Manzke Syndrome	Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta,...	OMIM:616145
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Inguinal hernia, Feeding difficulties, Gastroesophageal reflux, Splenic cys...	OMIM:618188
Hajdu-Cheney Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Po...	OMIM:102500
Lateral Meningocele Syndrome	Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Neuroge...	OMIM:130720
Adnp Syndrome	Respiratory distress, Inguinal hernia, Oral-pharyngeal dysphagia, Recurrent upper respiratory tra...	ORPHA:404448
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Ventricular septal defect, Pancreatic lymphangiectasis, Abnormal renal morpholog...	ORPHA:1655
Branchiootorenal Syndrome 1	Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dy...	OMIM:113650
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:606003
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Pulmonary emb...	ORPHA:394
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Pulmonary hypoplasia, Protuberant abdomen	OMIM:151210
Alagille Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrom...	ORPHA:52
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona...	OMIM:274150
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, P...	ORPHA:464306
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Rhabdomyosarcoma, Aortic a...	ORPHA:35125
Floating-Harbor Syndrome	Inguinal hernia, Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Cong...	OMIM:136140
Orofaciodigital Syndrome Xiv	Ventricular septal defect, Epispadias, Patent ductus arteriosus, Unilateral renal hypoplasia, Atr...	OMIM:615948
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Anteriorly placed anus, Camptodactyly of 2n...	OMIM:601803
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Coarctation o...	ORPHA:1708
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Pate...	OMIM:618870
Plague	Respiratory distress, Hepatomegaly, Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hem...	ORPHA:707
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, High, narrow palate, Dyspnea, Submucous cleft hard...	ORPHA:2554
Trichorhinophalangeal Syndrome, Type Ii	Scapular winging, Inguinal hernia, Bicuspid aortic valve, Partial anomalous pulmonary venous retu...	OMIM:150230
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Flexion contracture, Renal hypoplasia	OMIM:619321
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Microglossia	ORPHA:990
Autosomal Recessive Robinow Syndrome	Inguinal hernia, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphol...	ORPHA:1507
Peters-Plus Syndrome	Ureteral duplication, Ventricular septal defect, Diastasis recti, Hypospadias, Patent ductus arte...	OMIM:261540
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Tuberous Sclerosis 1	Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio...	OMIM:191100
Biotinidase Deficiency	Respiratory distress, Limb muscle weakness, Apnea, Hyperventilation	ORPHA:79241
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Rhabdomyolysis, Dilated cardiomyopathy, Coarctation of a...	OMIM:614921
Schinzel-Giedion Syndrome	Respiratory distress, Inguinal hernia, Aganglionic megacolon, Failure to thrive in infancy, Recur...	ORPHA:798
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Dilation of Virchow-Robin spaces, Ventricular septal defect, Contracture of the ...	OMIM:300998
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology...	ORPHA:464329
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Feeding difficulties in infancy, Asthma, Fl...	ORPHA:3206
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
3Mc Syndrome 1	Omphalocele, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Abnormality of...	OMIM:257920
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Chops Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Horseshoe...	OMIM:616368
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Nephrotic syndrome, Multicystic kidney dysplasia	ORPHA:110
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney...	OMIM:606232
Joubert Syndrome With Ocular Defect	Dextrocardia	ORPHA:220493
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Ascend...	ORPHA:444072
Vater/Vacterl Association	Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d...	OMIM:192350
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Elbow flexion con...	OMIM:178110
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia	ORPHA:264200
Tetrasomy 9P	Renal dysplasia, Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, Recu...	ORPHA:3310
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Feeding difficulties in infancy, Narrow palate, Anteriorly placed anus, Hyp...	OMIM:123790
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Micropenis, Ventricular septal defect, Penoscrotal hypospadias	OMIM:617164
Fraser Syndrome	Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Ur...	ORPHA:2052
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Intestinal...	OMIM:616268
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney	OMIM:174300
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Trisomy 20P	Inguinal hernia, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Abnormality of ...	ORPHA:261318
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Atrial septal d...	ORPHA:1519
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Patent ductus arteriosus, Elbow...	OMIM:602782
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Upper limb muscle weakness, ...	ORPHA:892
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Micropenis	OMIM:106260
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Vesico...	OMIM:616894
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Camptodactyly, A...	OMIM:614866
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy...	OMIM:300963
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Coronary artery f...	OMIM:620024
Achondroplasia	Respiratory distress, Pulmonary hypoplasia, Upper airway obstruction, Feeding difficulties	OMIM:100800
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Idiopathic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Abdominal pain, Peritonitis, Pulmonary embolism	ORPHA:567548
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni...	OMIM:619351
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia	OMIM:616920
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Feeding difficulties in infancy, Nasogast...	ORPHA:177907
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Macroglossia, Pulmonic stenosis, Thickened Achi...	ORPHA:3071
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Renal agenesis, Macroglossia, Perimembranous ventricular ...	OMIM:301040
Femoral-Facial Syndrome	Inguinal hernia, Ventricular septal defect, Renal agenesis, Abnormal renal collecting system morp...	OMIM:134780
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Left supe...	ORPHA:464738
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Bifid uvula, Cleft palate	OMIM:183900
Loeys-Dietz Syndrome 5	Decreased muscle mass, Scapular winging, Ventricular septal defect, Inguinal hernia, Hiatus herni...	OMIM:615582
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Hepatomegaly, Failure to thrive, Epistaxis, Diarrhea, Prolonged bleeding follo...	ORPHA:79259
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan...	OMIM:114290
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri...	OMIM:619534
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Webbed penis, Abnormal heart morphology,...	ORPHA:97360
19P13.12 Microdeletion Syndrome	Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect, Hypospadias	ORPHA:254346
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Patent duct...	OMIM:610443
Cerebrocostomandibular Syndrome	Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, R...	OMIM:117650
Alg9-Cdg	Omphalocele, Hypoplasia of the bladder, Torticollis, Ventricular septal defect, Hepatic cysts, Hy...	ORPHA:79328
Rubinstein-Taybi Syndrome 1	Accessory spleen, Respiratory distress, Small for gestational age, Respiratory tract infection, H...	OMIM:180849
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti...	ORPHA:95455
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micropenis, Ventricular septal defect	OMIM:620073
Distal Deletion 19P	Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Vom...	ORPHA:94093
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Vesicoureteral reflux, Abnormal heart morpholog...	ORPHA:453499
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ...	OMIM:117550
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Ventricular septal defect, Renal agenesis, Ectopic kidney, Flexion ...	OMIM:227645
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Polycystic ovaries	ORPHA:137675
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Patent ductus...	OMIM:300373
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Unilateral renal hypoplasia, Limb hypertonia	OMIM:619950
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydroneph...	ORPHA:93271
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Renal tubular...	OMIM:613457
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ...	OMIM:130050
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Hypospadias, Dextrocardia, Camptodactyly of fi...	ORPHA:1662
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Lacrimoauriculodentodigital Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis	ORPHA:2363
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Camptodactyly, Aortic valve steno...	OMIM:272950
Osteoglophonic Dysplasia	Respiratory distress, Inguinal hernia, Camptodactyly of finger, High palate, Failure to thrive	OMIM:166250
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Meckel Syndrome 14	Polycystic kidney dysplasia, Single ventricle	OMIM:619879
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Knee flexion contracture, Umbilic...	OMIM:614976
Craniofacioskeletal Syndrome	Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Atrial...	OMIM:300712
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Hypospadias	ORPHA:217346
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Lacticaciduria, ...	ORPHA:506
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
De Barsy Syndrome	Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Hypo...	ORPHA:2962
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hiatus hernia, Pancreatic cysts, Renal cyst, Polycystic kidney dysplasia, Umbilical hernia	OMIM:610199
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral...	ORPHA:96201
Distal 22Q11.2 Microdeletion Syndrome	Inguinal hernia, Recurrent urinary tract infections, Ventricular septal defect, Camptodactyly of ...	ORPHA:261330
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Gastrointestinal dysmotility, Nasal flaring, Obesity, Feeding difficulties, Gastroesophag...	ORPHA:466943
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Vesicoureteral refl...	OMIM:616975
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:617798
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Ventricular s...	OMIM:301068
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Renal cyst	OMIM:615560
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Macroglossia, Aminoaciduria, Al...	OMIM:214100
Lateral Meningocele Syndrome	Umbilical hernia, Inguinal hernia, Ventricular septal defect	ORPHA:2789
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Rhabdomyosarcoma, Coarctation of aorta, Abnormal aortic morphology,...	ORPHA:1052
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe...	ORPHA:391665
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g...	ORPHA:3474
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:185000
Chilton-Okur-Chung Neurodevelopmental Syndrome	Aplasia of the right hemidiaphragm, Epistaxis, Asthma, Episodic vomiting, Cephalohematoma, Tube f...	OMIM:619841
Rodrigues Blindness	Nasal flaring	OMIM:268320
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Multicystic kidney dysplasia, Camptodactyly of finger, Facial palsy, Hydronephrosis	ORPHA:261349
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect	ORPHA:1393
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Cranioectodermal Dysplasia 2	Inguinal hernia, Renal insufficiency, Patent ductus arteriosus, Renal cyst, Atrial septal defect,...	OMIM:613610
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Renal hypoplasia	OMIM:617157
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Ventricular septal defect, Shoulder muscle hypoplasia, P...	OMIM:274000
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d...	OMIM:309520
Noonan Syndrome 3	Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr...	OMIM:609942
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Inguinal hernia, Ventricular septal defect, Pulmonic stenosis, Atri...	OMIM:607721
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Jacobsen Syndrome	Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Coarctation of aorta, H...	ORPHA:2308
Acrocephalopolydactylous Dysplasia	Omphalocele, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Ogden Syndrome	Global glomerulosclerosis, Torticollis, Inguinal hernia, Bicuspid aortic valve, Left atrial enlar...	OMIM:300855
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic...	OMIM:610759
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of fing...	ORPHA:1606
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Renal hypoplasia, Macroglossia, Lower limb hypertonia, Vesicoureteral reflux, Microp...	OMIM:309580
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Meckel Syndrome, Type 1	Omphalocele, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Patent ductus ar...	OMIM:249000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Intracranial hemorrhage, Interr...	ORPHA:163979
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Umbilical hernia...	ORPHA:96191
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Hajdu-Cheney Syndrome	Inguinal hernia, Ventricular septal defect, Mitral stenosis, Hypospadias, Patent ductus arteriosu...	ORPHA:955
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Micropenis, Ventricular septal defect, Polycystic kidney dysplasia	OMIM:263520
Coffin-Siris Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear...	ORPHA:1465
Trichohepatoenteric Syndrome 1	Hypospadias, Ventricular septal defect, Galactosuria, Pulmonic stenosis, Tetralogy of Fallot, Ren...	OMIM:222470
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Distal Deletion 12Q	Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, Congenital hypertrophy of le...	ORPHA:96149
Generalized Arterial Calcification Of Infancy	Respiratory distress, Transient ischemic attack, Failure to thrive in infancy, Retinal hemorrhage...	ORPHA:51608
Joubert Syndrome With Hepatic Defect	Nephropathy, Inguinal hernia, Renal insufficiency, Multicystic kidney dysplasia	ORPHA:1454
Bohring-Opitz Syndrome	Ventricular septal defect, Flexion contracture, Vesicoureteral reflux, Camptodactyly, Atrial sept...	OMIM:605039
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Mosaic Trisomy 20	Ventricular septal defect, Abnormality of the kidney, Dysplastic tricuspid valve, Horseshoe kidne...	ORPHA:1724
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Camptodactyly	OMIM:617360
Rabson-Mendenhall Syndrome	Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Macroglossia, Atrial sep...	ORPHA:769
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:614114
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Macroglossia,...	OMIM:266920
Orofaciodigital Syndrome I	Proteinuria, Vascular dilatation, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Poly...	OMIM:311200
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma...	ORPHA:1556
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Abdominal pain, Hypertension, Pleural e...	ORPHA:567546
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Joubert Syndrome 1	Macroglossia, Nephropathy, Renal cyst	OMIM:213300
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Umbilical hernia, Micropenis, Patent foramen ovale	OMIM:613884
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Peters Plus Syndrome	Ureteral duplication, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasi...	ORPHA:709
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Abnormal heart morphology, Cardiomy...	ORPHA:699
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Ventricular septal defect, Diastasis recti, Macroglo...	ORPHA:488632
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Horseshoe kidney, ...	ORPHA:124
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, High, narrow palate, Cleft palate, Narrow pa...	OMIM:119600
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi...	OMIM:619268
Trisomy 10P	Decreased muscle mass, Abnormality of the kidney, Abnormal heart morphology, Multiple renal cysts...	ORPHA:171929
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Codas Syndrome	Atrial septal defect, Omphalocele, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic ...	OMIM:608328
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec...	OMIM:617063
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Ventricular septal defect, Limb hypertonia	OMIM:609460
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
15q26 overgrowth syndrome	Renal agenesis, Camptodactyly of finger, Abnormality of the kidney, Horseshoe kidney, Duplication...	DECIPHER:81
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Inguinal hernia, Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonar...	ORPHA:268261
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353281
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Camp...	OMIM:309800
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Camptodactyly of finger, Unilateral renal agenesis, Patent ductus arte...	ORPHA:261337
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Patent ductus arteriosus	OMIM:616682
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septa...	ORPHA:363958
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Micropenis, Ventricular septal defect	ORPHA:251028
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo...	ORPHA:363700
Spondylocarpotarsal Synostosis Syndrome	Scapular winging, Inguinal hernia, Renal cyst	OMIM:272460
Chromosome 16P13.3 Duplication Syndrome	Inguinal hernia, Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyl...	OMIM:613458
D-Bifunctional Protein Deficiency	Decreased muscle mass, Renal cyst	OMIM:261515
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Situs inversus totalis, Pancreatic cysts, Ure...	ORPHA:564
Apert Syndrome	Overriding aorta, Ventricular septal defect, Hydronephrosis	OMIM:101200
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Ventricular septal defect	OMIM:619229
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Vesicoureteral ref...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Type 1 muscle fiber atrophy, Vesicoureteral ref...	ORPHA:352665
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Constipation	OMIM:305100
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia	ORPHA:1934
Oculodentodigital Dysplasia	Umbilical hernia, Neurogenic bladder, Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Renal tubular acidosis, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Alström Syndrome	Respiratory distress, Hepatic fibrosis, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly,...	ORPHA:64
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilater...	OMIM:308205
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect, Hypospadias, Micropenis	OMIM:206900
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic...	OMIM:619525
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Pulmonary artery stenosis, Dilatation of...	ORPHA:459070
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Abnormal hear...	ORPHA:444077
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Pmm2-Cdg	Elevated hepatic transaminase, Respiratory distress, Pericarditis, Multiple joint contractures, A...	ORPHA:79318
Zttk Syndrome	Ventricular septal defect, Polyuria, Unilateral renal agenesis, Patent ductus arteriosus, Flexion...	OMIM:617140
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Respiratory distress, Aplasia of the epiglottis	OMIM:617088
Microphthalmia, Syndromic 6	Renal hypoplasia	OMIM:607932
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Umbilical hernia	ORPHA:33364
Jacobsen Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect, Hypospadias	OMIM:147791
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,...	OMIM:619522
Hydrolethalus Syndrome 1	Omphalocele, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect, Agen...	OMIM:236680
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis,...	ORPHA:2750
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Hypoplasia of facial musculature, Renal ...	OMIM:164210
Hypoglossia-Hypodactyly Syndrome	Gastroschisis	ORPHA:989
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cyst of the ductus choledochus, Cleft palate, Feeding difficulties, Cardiom...	ORPHA:480880
Marshall-Smith Syndrome	Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical...	OMIM:602535
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Liver Disease, Severe Congenital	Inguinal hernia, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlar...	OMIM:619991
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Atrial septal defect, Hypospadi...	ORPHA:821
Trichohepatoneurodevelopmental Syndrome	Macroglossia, Patent ductus arteriosus, Distal arthrogryposis, Ventricular septal defect	OMIM:618268
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mi...	OMIM:218040
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353277
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Flexion contracture, Ventricular septal defect	OMIM:614653
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect	ORPHA:436252
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Neu-Laxova Syndrome 1	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Transposition of the great a...	OMIM:256520
Paroxysmal Nocturnal Hemoglobinuria	Esophageal spasms, Myocardial infarction, Pulmonary embolism, Dyspnea, Jaundice, Odynophagia, Epi...	ORPHA:447
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro...	ORPHA:731
Proboscis Lateralis	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis...	ORPHA:141099
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Nasogastric tube feeding in infancy, Recurrent...	ORPHA:99646
Pallister-Hall Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidne...	ORPHA:672
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Omodysplasia 1	Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,...	OMIM:164280
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ...	ORPHA:3472
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Ventricular septal defect, Knee flexion contractur...	OMIM:606170
Noonan Syndrome 1	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Coarctation of aorta, Pulmonic ...	OMIM:163950
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:3047
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis re...	ORPHA:96334
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Hypospadias, Abnormality of the kidney, Patent...	OMIM:235730
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed p...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed p...	ORPHA:261552
Roberts Syndrome	Progressive flexion contractures, Long penis, Knee flexion contracture, Polycystic kidney dysplas...	ORPHA:3103
Kabuki Syndrome 1	Crossed fused renal ectopia, Ventricular septal defect, Micropenis, Coarctation of aorta, Atrial ...	OMIM:147920
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmona...	ORPHA:261537
Caroli Disease	Polycystic kidney dysplasia	ORPHA:53035
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Hypospadias, Ankle flexion contracture, Patent ductus arteriosus, Long...	OMIM:268300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect	OMIM:619418
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Camptoda...	OMIM:143095
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Torticollis, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Hematuria, Dilatation...	OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Muscular dystrophy	OMIM:615287
Proteus Syndrome	Decreased muscle mass, Enlarged polycystic ovaries, Long penis, Renal cyst, Arteriovenous malform...	ORPHA:744
Ulnar-Mammary Syndrome	Elbow flexion contracture, Inguinal hernia, Ventricular septal defect, Micropenis	OMIM:181450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Flexion contracture, Bicuspid aortic valve	OMIM:271640
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Orofaciodigital Syndrome Type 14	Epispadias, Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Umbilical hernia, Ventricular septal defect, Hydronephrosis	OMIM:620330
Johanson-Blizzard Syndrome	Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Situs inversus totalis, Dilated c...	OMIM:243800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Wolf-Hirschhorn Syndrome	Atrial septal defect, Decreased muscle mass, Ventricular septal defect, Hypospadias	OMIM:194190
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Facial palsy, Elbow flexion contracture, Renal cyst	OMIM:113620
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomyopathy, Micropenis, Tetralogy of Fallot, Patent f...	OMIM:216340

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 Slit3

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 Slit3.

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

Title	Journal	IMPC Allele	PubMed ID
Tissue-Specific Roles for the Slit-Robo Pathway During Heart, Caval Vein, and Diaphragm Development.	Journal of the American Heart Association (March 2022)	Slit3^{tm1a(EUCOMM)Hmgu}	PMC9075489
Targeting skeletal endothelium to ameliorate bone loss.	Nature medicine (May 2018)	Slit3^{tm1c(EUCOMM)Hmgu} Slit3^{tm1a(EUCOMM)Hmgu}	PMC5992080

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slit3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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