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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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 Similarity of
phenotypes
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, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ventral hernia, Renal agenesis, Ectopia cordis, Congenital diaphragmati... OMIM:313850
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Small for gestational age, Abnormal ... ORPHA:70589
Holzgreve Syndrome
Hypoplastic left heart, Renal agenesis, Renal hypoplasia OMIM:236110
Pseudomyxoma Peritonei
Respiratory insufficiency, Hernia, Weight loss, Nausea and vomiting, Abdominal pain, Abnormality ... ORPHA:26790
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Hypoxemia, Respiratory distress, Pulmonary hypoplasia, Intes... ORPHA:2140
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Left ventricular hy... OMIM:613424
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Exertional dyspnea,... ORPHA:254361
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Failure to thrive,... ORPHA:60032
Bronchogenic Cyst
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Abdomina... ORPHA:2357
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... OMIM:618719
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... OMIM:618845
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Horseshoe kidney, Omphalocele, Tetralogy of Fallot, Increased ur... OMIM:613630
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Aspiration pneumonia, W... ORPHA:141152
Asbestos Intoxication
Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Diffus... ORPHA:2302
Hirschsprung Disease
Diarrhea, Weight loss, Nausea and vomiting, Functional abnormality of the gastrointestinal tract,... ORPHA:388
Constricting Bands, Congenital
Bladder exstrophy, Omphalocele, Gastroschisis, Ectopia cordis OMIM:217100
Budd-Chiari Syndrome
Cirrhosis, Weight loss, Malabsorption, Abdominal pain, Jaundice, Elevated hepatic transaminase, C... ORPHA:131
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... OMIM:266600
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Nasogastric tube feeding in infancy, High palate, Poor suck, Abnormality of the liver, Ventilator... ORPHA:254864
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Gastroesophageal reflux, Camptodactyly of finger, Increased variabilit... OMIM:614399
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Poor suck, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... OMIM:300580
Pleural Mesothelioma
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... ORPHA:50251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... OMIM:613092
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough ORPHA:64741
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... ORPHA:77260
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Diarrhea, Pleural empyema, Weight loss, Liver abscess, Abdominal pain, Elevated ... ORPHA:67
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Abnor... OMIM:601163
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... OMIM:610205
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Idiopathic Chronic Eosinophilic Pneumonia
Parenchymal consolidation, Weight loss, Abnormality of the gastrointestinal tract, Asthma, Abnorm... ORPHA:2902
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncomp... OMIM:612158
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Pulmonary sequestration, Mitral stenosis... ORPHA:2847
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Poor suck, Feeding difficulties in infancy, Respiratory distress, Myopathy, Apneic episodes preci... OMIM:605809
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of F... OMIM:615542
Neuronal Intestinal Pseudoobstruction
Malabsorption, Congenital diaphragmatic hernia ORPHA:99811
Volvulus Of Midgut
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Intestinal malrotation, Constipa... OMIM:193250
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the liver, Nausea and vomiting, Abdominal pain, Intes... ORPHA:543
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Stomach cancer, Vomiting, Abnormality of the gastrointestinal tract, A... ORPHA:2869
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, High palate, Wrist drop, Diaphragmatic eventr... OMIM:620011
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Renal hypoplasia, Pulmo... OMIM:612946
Perching Syndrome
High palate, Camptodactyly, Respiratory distress, Dysphagia, Feeding difficulties, Joint contracture OMIM:617055
Myasthenic Syndrome, Congenital, 6, Presynaptic
Poor suck, Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2... OMIM:254210
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Intestinal obstruction, Dysphag... ORPHA:183
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial... OMIM:601493
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pulmonary insufficiency, Pneumothorax, Abn... ORPHA:70588
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... OMIM:604169
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abnormal intestine morphol... OMIM:226300
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Acute Interstitial Pneumonia
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing... ORPHA:79126
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Cleft palate, Abnormality of the pulmonary artery, Congenital diaphrag... ORPHA:1166
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus, Unilateral renal agenesis, Hypoplastic left heart, Renal hypoplasia, Ch... OMIM:617661
Serkal Syndrome
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic he... ORPHA:139466
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Feeding difficulties i... ORPHA:238329
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Malignant Peritoneal Mesothelioma
Weight loss, Abdominal pain, Abdominal distention, Dyspnea, Peritonitis, Ileus ORPHA:168811
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Schisis Association
Small for gestational age, Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hern... ORPHA:63862
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Bloody diarrhea, Enterocolitis, Jejunal atresia, Recurrent respiratory infecti... OMIM:243150
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis ORPHA:3033
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, High palate, Exer... ORPHA:399103
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Respiratory failure, Recurrent viral uppe... OMIM:619773
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Parenchymal consolidation, Elevated bronchoalveolar lavage fluid neutrophi... OMIM:610978
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pu... OMIM:613490
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... OMIM:613751
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular sclerosis, Glomerular sub... OMIM:614377
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Elevated hepatic transaminase, Respiratory distress, Hypertrophic cardiom... OMIM:613561
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Poor suck, ... OMIM:616974
X-Linked Centronuclear Myopathy
High palate, Poor suck, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smal... ORPHA:596
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Infant Acute Respiratory Distress Syndrome
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... ORPHA:70587
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio... OMIM:601186
Verheij Syndrome
Renal cyst, Renal agenesis, Renal hypoplasia, Abnormal cardiac septum morphology OMIM:615583
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Inguinal ... OMIM:208530
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Hereditary Amyloidosis With Primary Renal Involvement
Gastroesophageal reflux, Intestinal perforation, Vomiting, Diarrhea, Petechiae, Abnormality of th... ORPHA:85450
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis OMIM:617564
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus OMIM:616589
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Nausea... ORPHA:44890
Desmoid Tumor
Malabsorption, Abdominal pain, Intestinal polyposis, Intestinal obstruction, Gastrointestinal hem... ORPHA:873
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Pulmonary hypop... ORPHA:2470
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Spinal muscular atrophy, Feeding difficulties in infancy, Ventilator d... ORPHA:254875
13Q12.3 Microdeletion Syndrome
Vomiting, Recurrent respiratory infections, Camptodactyly, Congenital diaphragmatic hernia, Failu... ORPHA:412035
Limb Body Wall Complex
Abdominal wall defect, Ventral hernia, Diastasis recti, Ventricular septal defect, Abnormality of... ORPHA:2369
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... OMIM:610913
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Weight loss, Respiratory distress, Tracheoesophageal fistula... ORPHA:142
Burn-Mckeown Syndrome
Ventricular septal defect, Hypomimic face, Unilateral renal agenesis, Atrial septal defect, Ingui... OMIM:608572
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ventricular septal defect, Secundum atrial septal defect, Hypoplastic l... OMIM:618901
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Flexion contracture, Decreased body weight, Muscle fiber atrophy, Myos... ORPHA:258
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Ventricular septal defect, Renal tubular acidosis, Glycosuria, Arthrogryposis mult... OMIM:613404
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
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal ob... ORPHA:2591
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Failure to thrive, Myopathy, Feeding difficulties, Cardi... ORPHA:26792
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Skeletal muscle hypertroph... OMIM:613327
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Small for gestational age, Anal atresia, Congenital diaphragmatic hernia, Cle... ORPHA:95706
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia OMIM:254120
Heterotaxy, Visceral, 12, Autosomal
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... OMIM:619702
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive, Low-output congestive heart... ORPHA:91130
Myopathy And Diabetes Mellitus
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... ORPHA:2596
Myotubular Myopathy With Abnormal Genital Development
High palate, Centrally nucleated skeletal muscle fibers, Respiratory distress, Myopathy, Feeding ... OMIM:300219
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Hepatic failure, Flexion contracture, Cirrhosis, Abnormal muscle glyco... ORPHA:367
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Gastroschisis, Ventricular septal defect ORPHA:2476
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Failure ... ORPHA:91359
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Respiratory distress OMIM:619099
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ascending t... OMIM:270100
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Diarrhea, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obst... ORPHA:411703
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Failure to thrive, Cough, Recurrent ... OMIM:263000
Radiation Proctitis
Abnormal gastrointestinal vascular morphology, Abnormality of connective tissue, Diarrhea, Abnorm... ORPHA:70475
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Tetralogy of Fallot, Micropenis OMIM:617926
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... ORPHA:1143
Combined Oxidative Phosphorylation Deficiency 19
Gastroesophageal reflux, Increased variability in muscle fiber diameter, Elevated circulating ala... OMIM:615595
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect ORPHA:2256
Classic Multiminicore Myopathy
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... ORPHA:324604
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly OMIM:246560
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Knee flexion contracture, High palate, Poor suck, Hip contracture, Spi... ORPHA:1145
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Cooper-Jabs Syndrome
Respiratory insufficiency, Camptodactyly of finger, Anteriorly placed anus, Congenital diaphragma... ORPHA:1488
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... OMIM:220210
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal dysplasia, Hypertrophy of the urinary bladder, Renal hypoplasia, Omphalocele, Urethral obst... OMIM:601389
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Anal atresia, Inguinal he... ORPHA:2063
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Gastroesophageal reflux, Splenomegaly, Congestive heart failure,... ORPHA:2414
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Diffuse reticular or finely nodular infiltrations, Respiratory tract infection, Chronic bronchiti... ORPHA:79127
Ppoma
Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Weight loss, ... ORPHA:97278
Cryptogenic Organizing Pneumonia
Pneumothorax, Weight loss, Hypoxemia, Respiratory distress, Anorexia, Crackles, Restrictive venti... ORPHA:1302
Carney-Stratakis Syndrome
Weight loss, Abdominal pain, Intestinal obstruction, Gastrointestinal hemorrhage, Dysphagia, Gast... ORPHA:97286
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Purpura, Intestinal obstruction, Gastroi... ORPHA:343
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Congenital diaphragmatic hernia, Proteinuria, Renal insufficiency... OMIM:166300
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... OMIM:178500
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Left ventricular outflow tract obstruction, Flexion contracture, Feedi... ORPHA:365
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis ORPHA:251076
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... OMIM:605376
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... OMIM:616749
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Grfoma
Intermittent jaundice, Diarrhea, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, ... ORPHA:97261
Scimitar Syndrome
Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap... ORPHA:185
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Patent foramen ovale, Aminoaciduria, Ventricular septal defect, Renal tubu... OMIM:208085
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis, Perimembranous ventricular septal defect OMIM:611376
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Cystic Fibrosis
Biliary cirrhosis, Diarrhea, Bronchiectasis, Hepatosplenomegaly, Decreased forced expiratory flow... OMIM:219700
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Myopathy, Renal hypoplasia, Renal insufficie... OMIM:614922
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Weight loss, Nausea and vomiting, Abdominal pain, Cachexia, Neoplasm of the... ORPHA:83469
Waardenburg-Shah Syndrome
Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Constipation, Intestinal ob... ORPHA:897
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
15Q24 Microdeletion Syndrome
Hernia, Small for gestational age, Anal atresia, Congenital diaphragmatic hernia, Failure to thri... ORPHA:94065
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... ORPHA:244
Emanuel Syndrome
Gastroesophageal reflux, High palate, Torticollis, Anal atresia, Recurrent sinusitis, Intestinal ... OMIM:609029
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Respiratory distress, Congenital diaphragmatic hernia, Cleft palate, Feeding difficu... OMIM:606164
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Ventricular septal defect, Truncus arteriosus OMIM:601355
Congenital Hypothyroidism
Hypotension, Feeding difficulties in infancy, Macroglossia, Abdominal distention, Hypertension, T... ORPHA:442
Even-Plus Syndrome
Patent foramen ovale, Vesicoureteral reflux, Recurrent urinary tract infections, Atrial septal de... OMIM:616854
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Farber Disease
Respiratory insufficiency, Hepatic failure, Flexion contracture, Nodular pattern on pulmonary HRC... ORPHA:333
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:615297
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Ventricular septal defect, Unilateral renal agenesis, Atrial septal defect,... OMIM:618494
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Xp22.13P22.2 Duplication Syndrome
High palate, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Trunc... ORPHA:284180
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Congenita... OMIM:263210
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency OMIM:615987
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Feeding d... ORPHA:45452
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Hypertension, Respi... OMIM:616733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Idiopathic Pulmonary Fibrosis
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Pulmonary insufficiency, Exe... ORPHA:2032
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Inguinal hernia, Small thenar eminence, Joint contracture of the 5th finger... OMIM:618914
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Congestive heart failure, D... OMIM:619751
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Dysphagia, F... OMIM:300978
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Hypertrophic cardiomyopathy, Reduced re... OMIM:619902
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Atrial septal defect, Hepatosplenom... OMIM:267010
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Somatostatinoma
Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Weight loss, ... ORPHA:97283
Granulomatosis With Polyangiitis
Respiratory insufficiency, Angina pectoris, Pericarditis, Intestinal obstruction, Weight loss, Ab... ORPHA:900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect ORPHA:75389
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Camptodactyly, Lacticaciduria, H... OMIM:604273
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... OMIM:614980
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Renal agenesis, Hypospadias, Renal hypoplasia, Micropenis, Umbilical he... ORPHA:171839
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Renal agenesis, Atrial septal defect, Coarctation of aorta, Dextrocard... OMIM:264480
Secondary Intestinal Lymphangiectasia
Cirrhosis, Vomiting, Increased stool alpha1-antitrypsin concentration, Intussusception, Malabsorp... ORPHA:90363
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Hypertrophic cardiomyopathy, Ketonuria OMIM:619053
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Pulm... OMIM:234810
Meacham Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... OMIM:608978
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Rig... OMIM:614261
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Atelectasis, Morgagni diaphragmatic hernia, Pyloric stenosis, Pulmonary ... OMIM:613177
Laryngotracheal Angioma
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Feeding difficult... ORPHA:137935
Avian Influenza
Pulmonary infiltrates, Vomiting, Pneumothorax, Diarrhea, Productive cough, Rhabdomyolysis, Hepati... ORPHA:454836
Castleman Disease
Restrictive cardiomyopathy, Weight loss, Abnormality of the gastrointestinal tract, Nausea and vo... ORPHA:160
Gastroschisis
Gastroschisis ORPHA:2368
Renal Coloboma Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... ORPHA:1475
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric... OMIM:252011
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Renal agenesis, Ectopic kidney, Renal hypoplasia, Pulmonic stenosis OMIM:212780
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Flexion contracture, Malabsorption, Asthma, Small for gestational age, Intestinal... OMIM:601675
Vacterl Association With Hydrocephalus
Renal hypoplasia, Abnormal heart morphology OMIM:276950
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Right atrial isomerism, Patent forame... OMIM:306955
Emanuel Syndrome
Gastroesophageal reflux, High palate, Multiple joint contractures, Ectopic anus, Bifid uvula, Ana... ORPHA:96170
Igg4-Related Aortitis
Asthma, Abdominal pain, Intestinal obstruction, Weight loss ORPHA:449400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Congenital di... ORPHA:1120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal cortic... OMIM:174000
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Vomiting, Microvesicular hepatic ste... OMIM:212140
Shigellosis
Bloody diarrhea, Tenesmus, Pneumonia, Acute colitis, Splenic abscess, Abdominal pain, Purpura, Ul... ORPHA:810
Mullegama-Klein-Martinez Syndrome
Cleft palate, Failure to thrive, Congenital diaphragmatic hernia OMIM:301022
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vomiting, Diarrhea, Cellulitis, Pleuritis, Abdominal pain, Fasciitis, Recurrent pharyngitis, Brui... ORPHA:32960
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Feeding difficulties, Aplasia of the left hemidiaphragm OMIM:618238
Bardet-Biedl Syndrome 16
Bronchiolitis, Obesity, Respiratory distress, Recurrent respiratory infections OMIM:615993
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... ORPHA:60033
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, High palate, Poor suck, Macroglossia, Inguinal hernia, Cleft palate... OMIM:614608
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Repeated pneumothoraces, Chronic constipation, Camptodactyly, Anal atresia, Intestin... OMIM:617602
Zygomycosis
Pneumothorax, Diarrhea, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Hematemesi... ORPHA:73263
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Halperin-Birk Syndrome
Gastroesophageal reflux, Flexion contracture, High palate, Aspiration, Pseudobulbar paralysis, In... OMIM:618651
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Facial diplegia, Failure to thrive, Skeletal muscle atrophy, Facial paralysis, D... OMIM:613559
Cebalid Syndrome
Congenital diaphragmatic hernia, Feeding difficulties, High palate OMIM:618774
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Camptodactyly of finger, Midshaft hypospadias, Renal hypoplasia/aplasia... ORPHA:2863
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... OMIM:619657
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of deltoid muscle, Dextrocardia, Hyp... OMIM:173800
Glucagonoma
Intermittent jaundice, Episodic abdominal pain, Extrahepatic cholestasis, Diarrhea, Weight loss, ... ORPHA:97280
Jansen-De Vries Syndrome
Gastroesophageal reflux, Central diaphragmatic hernia, Vomiting, Constipation, Feeding difficulties OMIM:617450
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory tract infectio... ORPHA:308552
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Arthrogryposis multiplex congenita OMIM:236500
Acute Lung Injury
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distres... ORPHA:178320
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Weight loss, Cachexia, Respiratory distress, Failure to thrive, Feeding diffi... OMIM:612075
Developmental And Epileptic Encephalopathy 30
Feeding difficulties, Respiratory distress OMIM:616341
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... OMIM:618316
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:616501
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Congenital Disorder Of Glycosylation, Type Iu
High palate, Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, ... OMIM:615042
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Autosomal Recessive Spondylocostal Dysostosis
Respiratory insufficiency, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic her... ORPHA:2311
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Elbow flexion contracture OMIM:618022
Zollinger-Ellison Syndrome
Peptic ulcer, Episodic abdominal pain, Extrahepatic cholestasis, Multiple lipomas, Diarrhea, Duod... ORPHA:913
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Hor... OMIM:609053
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Lower limb muscle weakness, Calf muscle hypertrophy, Muscular edema, ... ORPHA:268
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Recurrent upper respiratory tract infections, Intestinal obstruction, Chronic ... OMIM:600802
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Supravalvular aortic stenosis, Inguinal hernia, Congenital diaphragmatic hernia, Recur... OMIM:219100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Inguina... OMIM:614376
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Marden-Walker Syndrome
Decreased muscle mass, Joint contracture of the hand, Camptodactyly, Inguinal hernia, Hypospadias... OMIM:248700
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Lymphoid Interstitial Pneumonia
Bronchiectasis, Crackles, Multiple pulmonary cysts, Hepatomegaly, Decreased DLCO, Wheezing, Weigh... ORPHA:79128
1Q41Q42 Microdeletion Syndrome
Cleft palate, Pulmonary hypoplasia, Submucous cleft hard palate, Congenital diaphragmatic hernia ORPHA:250999
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, High palate ORPHA:1520
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Axial muscle stiffness, Respiratory distress ORPHA:240085
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Elevated hepatic transaminase, Hepatomegaly, Feeding difficultie... ORPHA:26793
Seckel Syndrome 9
Asthma, Small for gestational age, Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, ... OMIM:616777
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Renal hypop... OMIM:617660
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... ORPHA:1455
Exstrophy-Epispadias Complex
Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the abdominal wall, Abnormality of... ORPHA:322
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Micropenis, Prune belly, Ventricular septal defect OMIM:618504
Lujo Hemorrhagic Fever
Hypotension, Diarrhea, Elevated hepatic transaminase, Shock, Crackles, Dysphagia, Nonproductive c... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Telangiectasia, Muscular dystrophy, Camptodactyly, Respiratory distress... OMIM:608799
Neuroendocrine Neoplasm Of Appendix
Hypotension, Elevated hepatic transaminase, Palpitations, Hepatomegaly, Adenocarcinoma of the col... ORPHA:100079
Congenital Fibrinogen Deficiency
Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Congenitally Uncorrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... ORPHA:860
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... OMIM:612387
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Vacterl/Vater Association
Anorectal anomaly, Abnormality of the pancreas, Aplasia/Hypoplasia of the lungs, Abnormality of t... ORPHA:887
Familial Mediterranean Fever
Diarrhea, Nausea and vomiting, Malabsorption, Pleuritis, Abdominal pain, Pancreatitis, Pericardit... ORPHA:342
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... OMIM:617641
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Decreased body mass index, Failure to thrive ORPHA:370079
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Centrilobular ground-glass opacification on pulmonary HRCT, Elev... OMIM:265450
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Abnormal onset of bleeding, Myocardial infarction, Cerebral ischemia ORPHA:3325
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Sanjad-Sakati Syndrome
Myopathy, Intestinal obstruction, Recurrent respiratory infections, Abnormal dental enamel morpho... ORPHA:2323
Nemaline Myopathy 9
Nemaline bodies, Ventricular septal defect, Arthrogryposis multiplex congenita OMIM:615731
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Vomiting, Dependency on intravenous nutrition, Recurrent respiratory infections, Malabsorption, I... ORPHA:37042
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress, Median cleft lip and palate ORPHA:1832
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Staphylococcal Necrotizing Pneumonia
Hypotension, Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural empyema, Hyp... ORPHA:36238
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hernia, Hydronephrosis ORPHA:1745
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Respiratory distress OMIM:617977
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect OMIM:263630
Arterial Tortuosity Syndrome
Flexion contracture, High palate, Ischemic stroke, Bifid uvula, Hypertension, Bruising susceptibi... OMIM:208050
Maternal Phenylketonuria
Double outlet right ventricle, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... ORPHA:2209
Chronic Beryllium Disease
Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal respi... ORPHA:133
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Denys-Drash Syndrome
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Congenital d... OMIM:194080
Lowry-Maclean Syndrome
Midgut malrotation, Abnormality of the abdominal organs, Pyloric stenosis, Inguinal hernia, Conge... ORPHA:2409
Porphyria Variegata
Abnormality of the liver, Respiratory paralysis, Abdominal pain, Scarring, Hepatocellular carcino... ORPHA:79473
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... OMIM:617478
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral berry aneurysm, Renal... OMIM:173900
Intellectual Disability-Strabismus Syndrome
Gastroesophageal reflux, Congenital finger flexion contractures, High palate, Joint contracture o... ORPHA:363528
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus OMIM:266810
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism, Portal vein thrombosis ORPHA:82
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Respiratory distress, Large ... ORPHA:226313
Waardenburg Syndrome Type 3
Camptodactyly of finger, Tracheomalacia, Atelectasis ORPHA:896
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect OMIM:613730
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal localization of kidney, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Urethral atresia, Enlarged kidney, Dextrocardia, Persistent left s... OMIM:314390
Adams-Oliver Syndrome 5
Patent foramen ovale, Splenomegaly, Inguinal hernia, Right ventricular hypertrophy, Right atrial ... OMIM:616028
Lambert Syndrome
Inguinal hernia, Hypospadias, Ventricular septal defect ORPHA:1296
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Intermittent diarrhea, Hernia, Aplasia/Hypoplasia of the ... ORPHA:2255
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, High palate, Exertio... ORPHA:98915
Combined Oxidative Phosphorylation Defect Type 7
Gastrostomy tube feeding in infancy, Lower limb muscle weakness, Paralytic ileus, Facial diplegia... ORPHA:254930
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Tongue atrophy, Hand muscle atrophy, Respir... OMIM:211530
Complete Atrioventricular Septal Defect
Systolic heart murmur, Crackles, Hepatomegaly, Abnormal P wave, Feeding difficulties, Wheezing, T... ORPHA:1329
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... ORPHA:730
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Cellulitis, Abnormal bleeding, Respiratory distres... ORPHA:238459
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Pyloric stenosis, Congenital diaphragmatic hernia, Failure to thrive, Cl... ORPHA:261197
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Hernia of the abdominal wall, Anomalous pulmonary venous return, Abnorm... ORPHA:2184
Fryns Syndrome
Gastroesophageal reflux, High palate, Ectopic anus, Aganglionic megacolon, Anal atresia, Pulmonar... ORPHA:2059
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Feeding difficulties, Respiratory distress OMIM:300934
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Type 1 muscle fibe... OMIM:612949
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Pentalogy Of Cantrell
Abnormal pericardium morphology, Ventricular septal defect, Renal dysplasia, Renal agenesis, Atri... ORPHA:1335
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small thenar eminence, Hyd... OMIM:613390
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... OMIM:615415
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Cleft palate, Congenital diaphragmatic hernia, Abnormality of mes... ORPHA:2075
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Coarctation of aort... ORPHA:3426
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Dextrocardia OMIM:617577
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:444013
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Abdominal pain, Pancreatitis, Respiratory distress, Anorexia, Failure to thr... ORPHA:79312
2Q37 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia, Tracheomalacia, Obesity, Umbilical hernia ORPHA:1001
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress ORPHA:1423
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Constipation, Intestinal obstruction, Dysphagia OMIM:606764
Diamond-Blackfan Anemia 10
Cleft palate, Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia OMIM:613309
Poliomyelitis
Hypotension, Vomiting, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Paralytic... ORPHA:2912
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Donnai-Barrow Syndrome
Diaphragmatic eventration, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, ... OMIM:222448
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Pulmonary artery ... OMIM:611812
Cocaine Intoxication
Hypotension, Bloody diarrhea, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventric... ORPHA:90068
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal aortic morphology, Ventricular sep... ORPHA:1926
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal... OMIM:616276
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Vomiting, Respiratory distress OMIM:237310
Cach Syndrome
Renal hypoplasia, Flexion contracture, Arthrogryposis multiplex congenita, Hepatosplenomegaly ORPHA:135
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Abnormal heart morphology, Atrial septal... OMIM:614954
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Meacham Syndrome
Conotruncal defect, Ventricular septal defect, Crossed fused renal ectopia, Hypoplasia of penis, ... ORPHA:3097
Penile Agenesis
Cloacal abnormality, Absent penis, Ventricular septal defect, Bilateral renal agenesis, Urethral ... ORPHA:49
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, High palate, Irregular respiration, Cardiac arres... OMIM:604377
8P23.1 Microdeletion Syndrome
High palate, Weight loss, Hypertrophic cardiomyopathy, Congenital diaphragmatic hernia, Pulmonary... ORPHA:251071
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrha... ORPHA:99931
Trisomy 1Q
Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megaureter, Ventricular septal ... ORPHA:261344
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Pulm... OMIM:115197
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Secundum atrial septal defect, Umbilical hernia, Absence of renal corticomedull... OMIM:619758
Acute Intermittent Porphyria
Respiratory insufficiency, Diarrhea, Respiratory paralysis, Nausea and vomiting, Pseudobulbar par... ORPHA:79276
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas... ORPHA:2516
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke, Pleural e... ORPHA:2038
Focal Dermal Hypoplasia
Camptodactyly of finger, Gastroesophageal reflux, Diastasis recti, Hernia, Aplasia/Hypoplasia of ... ORPHA:2092
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Vascular dilatation, Crossed fused renal ectopia, Ventricular septal defec... OMIM:607323
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Ectopic kidney, Abnormal hea... ORPHA:401935
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Respiratory paralysis, Paralytic ileus, Abdominal pain, Hepatocellular carcin... OMIM:176000
Cystic Fibrosis
Meconium ileus, Gastroesophageal reflux, Cirrhosis, Pneumothorax, Recurrent respiratory infection... ORPHA:586
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Esophageal Atresia
Feeding difficulties in infancy, Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchitis, Respi... ORPHA:1199
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Gastroesophageal reflux, Foot joint contracture, Mucosal telangi... ORPHA:220402
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
White-Sutton Syndrome
Gastroesophageal reflux, High palate, Poor suck, Bifid uvula, Congenital diaphragmatic hernia, Fa... OMIM:616364
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Colon perforation, Microcolon, Intest... OMIM:600001
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Atrial Standstill
Flexion contracture, Ischemic stroke, Muscular dystrophy, Left ventricular noncompaction, Skeleta... ORPHA:1344
Auriculocondylar Syndrome 2
Respiratory distress, Apnea, Snoring, Microglossia, Cleft palate, Feeding difficulties, Glossoptosis OMIM:614669
Bresek Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia ORPHA:85284
Syndromic Diarrhea
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Polycystic kidney dys... ORPHA:84064
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Abnormal lung lobation, Pulmonary hypoplasia, Trac... ORPHA:958
Czeizel-Losonci Syndrome
High palate, Pulmonary hypoplasia, Tracheoesophageal fistula, Posterolateral diaphragmatic hernia... ORPHA:2437
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Hypoglossia With Situs Inversus
Asplenia, High palate, Feeding difficulties in infancy, Polysplenia, Respiratory distress, Malnut... OMIM:612776
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the... OMIM:212093
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, High palate, Respiratory distress, Inguinal hernia, Failure to t... OMIM:619272
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Inguinal hernia, Hydronephrosis OMIM:613735
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect,... OMIM:618454
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Abnormal breath sound, Ele... ORPHA:210136
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Ciliary Dyskinesia, Primary, 1
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... OMIM:244400
Lymphangioleiomyomatosis
Pulmonary infiltrates, Pneumothorax, Abdominal pain, Emphysema, Restrictive ventilatory defect, D... ORPHA:538
Meckel Syndrome 12
Renal hypoplasia, Arthrogryposis multiplex congenita, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Limb hypertonia, Facial hypotonia, ... OMIM:617595
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... ORPHA:97362
Nipah Virus Disease
Hypotension, Nausea and vomiting, Recurrent pharyngitis, Respiratory distress, Anorexia, Cough ORPHA:99825
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Supraventricular arrhythmia, Elevated hepatic transaminase, Hepa... ORPHA:3260
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Pulmonary infiltrates, Abnormal pulmonary interstitial morpholog... ORPHA:217563
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal amyotrophy, Feeding difficul... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal amyotrophy, Feeding difficul... ORPHA:98914
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Weight loss, Hypoxemia, Ground-glass opacification, Restrictive ventilator... ORPHA:90060
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, High palate, Decreased muscle mass, Generalized amyotrophy, Respiratory dist... OMIM:271225
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, High palate, Paroxysmal atrial fibrillation, Weig... OMIM:164310
Nephrotic Syndrome, Type 11
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... OMIM:616730
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasi... ORPHA:2326
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Microvesicular hepatic steatosis, Diarrhea, Hepatocellular necrosis, H... OMIM:618278
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia OMIM:611884
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal dysplasia, Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Umbilical hernia ORPHA:85321
Joubert Syndrome 18
Renal cyst, Horseshoe kidney, Camptodactyly, Ventricular septal defect OMIM:614815
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia OMIM:614679
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney ... OMIM:617056
White-Sutton Syndrome
Gastroesophageal reflux, Ventral hernia, High palate, Abnormality of the gastrointestinal tract, ... ORPHA:468678
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatation of the cerebral ... OMIM:611773
Myotonic Dystrophy 1
Feeding difficulties in infancy, Respiratory distress, Facial diplegia, Dysphagia, Atrial flutter... OMIM:160900
Multiple Pterygium Syndrome, Escobar Variant
Knee flexion contracture, Flexion contracture, High palate, Multiple joint contractures, Diaphrag... OMIM:265000
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Pulmonary edema, Centrilobula... ORPHA:199241
Perlman Syndrome
Volvulus, Large for gestational age, Congenital diaphragmatic hernia, Pancreatic islet-cell hyper... OMIM:267000
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Contractures of the large joints, High palate, Elevated hepatic transaminase, Respiratory distres... ORPHA:329178
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Gastroesophageal reflux, High palate, Anal atresia, Large for gestational age, Pulmonary hypoplas... OMIM:614080
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Granulomatous Disease, Chronic, X-Linked
Cellulitis, Liver abscess, Pleural effusion, Recurrent pneumonia, Rectal abscess, Cough, Air bron... OMIM:306400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Ketonuria, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventr... OMIM:619167
Pneumocystosis
Respiratory insufficiency, Parenchymal consolidation, Exertional dyspnea, Weight loss, Combined c... ORPHA:723
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Hypospadias, Tetralogy of Fallot, Transposition ... ORPHA:1913
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency