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
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Pseudomyxoma Peritonei
Hernia, Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, A... ORPHA:26790
Thoracoabdominal Syndrome
Renal agenesis, Ventral hernia, Patent ductus arteriosus, Ectopia cordis, Congenital diaphragmati... OMIM:313850
Holzgreve Syndrome
Renal agenesis, Hypoplastic left heart, Renal hypoplasia OMIM:236110
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Congenital Diaphragmatic Hernia
Hypoxemia, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the dia... ORPHA:2140
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Genitopalatocardiac Syndrome
Renal cyst, Double outlet right ventricle, Right aortic arch, Ventricular septal defect, Transpos... OMIM:231060
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst, Ventricular septal defect, Truncus arteriosus OMIM:228940
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Perching Syndrome
High palate, Flexion contracture, Feeding difficulties, Dysphagia, Respiratory distress, Camptoda... OMIM:617055
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Congen... OMIM:613630
Bronchogenic Cyst
Bronchogenic cyst, Abnormal stomach morphology, Pneumonia, Abnormality of the diaphragm, Abnormal... ORPHA:2357
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... OMIM:618719
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, D... ORPHA:141152
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... OMIM:618845
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Weight loss ORPHA:64741
Rowley-Rosenberg Syndrome
Aminoaciduria, Cor pulmonale, Reduced subcutaneous adipose tissue, Right ventricular hypertrophy OMIM:268500
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Poor suck, High palate, Nasogastric tube feeding in infancy, Respiratory failure requiring assist... ORPHA:254864
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Poor suck, Dilated cardiomyopathy, Decreased body weight, Respiratory insufficiency due to muscle... OMIM:300580
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Camptodactyly of finger, Muscle fiber necrosis, Gast... OMIM:614399
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Constricting Bands, Congenital
Omphalocele, Gastroschisis, Bladder exstrophy, Ectopia cordis OMIM:217100
Hirschsprung Disease
Failure to thrive in infancy, Constipation, Aganglionic megacolon, Nausea and vomiting, Functiona... ORPHA:388
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Cholecystitis, Gastrointestinal in... ORPHA:131
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Abnormal... ORPHA:2302
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Splenomegaly, Abnormal pattern of respiration, Cough, Hepato... ORPHA:77260
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Poor suck, Respiratory insufficiency due to muscle weakness, Sudden ... OMIM:254210
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... OMIM:613092
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Inflammation of the large intestine, Recurrent aphthous stomatitis, Abdominal pa... OMIM:266600
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Poor suck, Feeding difficulties in infancy, Limb muscle weakness, Re... OMIM:605809
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Alagille Syndrome 2
Tetralogy of Fallot, Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Atrial septal de... OMIM:610205
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Hypoplastic left heart, Chronic kidney disease, Renal hypoplasia, Patent ductus arteriosus OMIM:617661
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Lung abscess, Congestive heart failure, Gastrointesti... ORPHA:67
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Feeding difficulties, Hepatic steatosis, Respiratory distress OMIM:615595
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Proteinuria, Renal hypo... OMIM:611555
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, Pulmonary artery atresia, Ventricula... OMIM:612946
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Abnormality of... ORPHA:2902
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Hypoxemia, Intestinal malrotation, Conge... ORPHA:2847
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocel... OMIM:601163
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Neuronal Intestinal Pseudoobstruction
Malabsorption, Congenital diaphragmatic hernia ORPHA:99811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
Volvulus Of Midgut
Constipation, Intestinal malrotation, Neonatal intestinal obstruction, Abdominal distention, Volv... OMIM:193250
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Gastrointestinal hemorrhage, Nausea and vo... ORPHA:543
Eosinophilic Granulomatosis With Polyangiitis
Pulmonary infiltrates, Hypertension, Dysphagia, Congestive heart failure, Abnormal pleura morphol... ORPHA:183
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Restrictive ventilatory defect, Foot dorsiflexor weakness, Skeletal mus... ORPHA:178464
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Dyspnea, Abdominal pain, Abdominal distention, Weight loss ORPHA:168811
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Tetralogy of Fallot, Perineal hypospadias, Microphallus OMIM:615542
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, High palate, Nemaline bodies, Foot dorsiflexor weakness, ... ORPHA:399103
Severe X-Linked Mitochondrial Encephalomyopathy
Feeding difficulties in infancy, Skeletal muscle atrophy, Increased variability in muscle fiber d... ORPHA:238329
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
Mucus Inspissation Of Respiratory Tract
Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction, Bronchiectasis OMIM:253240
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:615373
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pneumonia, Pulmonary embolism, Hepatomegaly, Abdominal pain, Abnormal intestine morphology, Budd-... OMIM:226300
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Abnormality of the pulmonary artery, Cleft palate, Congenital diaphrag... ORPHA:1166
Serkal Syndrome
Renal agenesis, Abnormal penis morphology, Congenital diaphragmatic hernia, Pulmonic stenosis, Hy... ORPHA:139466
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Cough, Dyspnea ORPHA:60026
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Schisis Association
Small for gestational age, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Anal atres... ORPHA:63862
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Pulmonary infiltrates, Ground-gla... ORPHA:79126
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Feeding difficulties in infancy, Recurrent pneumonia, Failure to thrive in infancy, Skeletal musc... ORPHA:254875
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus OMIM:616589
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Renal malrotation, Atrial septal... OMIM:601186
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis, Re... OMIM:616726
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Renal cyst, Abnormal cardiac septum morphology OMIM:615583
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Enamel hypoplasia, Interface hepatitis, Intestinal malrotation, Co... OMIM:243150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Dyspnea, Dysphagia, Facial palsy... OMIM:603511
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
X-Linked Centronuclear Myopathy
Poor suck, High palate, Necklace skeletal muscle fibers, Respiratory failure requiring assisted v... ORPHA:596
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Feeding difficulties, Failure to thrive, Myopathy, Cardiomyopathy, Respiratory... ORPHA:26792
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neut... OMIM:610978
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia OMIM:615524
13Q12.3 Microdeletion Syndrome
Constipation, Obesity, Congenital diaphragmatic hernia, Recurrent respiratory infections, Failure... ORPHA:412035
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Petechiae, Hepatosplenomegaly, Gastrointestinal hemorrhage, Abnor... ORPHA:85450
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Neoplasm of the gas... ORPHA:44890
Limb Body Wall Complex
Myelomeningocele, Ventral hernia, Thoracoabdominal wall defect, Ectopia cordis, Diastasis recti, ... ORPHA:2369
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of orbic... ORPHA:2596
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Abdominal pain, Malabsorption, Intestinal polyposis,... ORPHA:873
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Left atrial isom... OMIM:605376
Familial Nasal Acilia
Chronic rhinitis, Dyspnea, Atelectasis, Bronchiectasis, Respiratory distress, Chronic sinusitis ORPHA:922
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Failure to thrive, Myopathy, Low-output congestive heart failure, Re... ORPHA:91130
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Ventricular septal defect, Nephropathy, Right ventricul... OMIM:613404
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Infantile-Onset X-Linked Spinal Muscular Atrophy
Poor suck, High palate, Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, ... ORPHA:1145
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Cardiac arrest, Respiratory failure, Tachypnea, Respiratory tract infection... ORPHA:70587
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Cough, Dyspnea, Neoplasm of the l... ORPHA:142
Mungan Syndrome
Perimembranous ventricular septal defect, Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis OMIM:611376
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Flexion contracture, Portal hypertension, Hepatosplenome... ORPHA:367
Non-Syndromic Posterior Hypospadias
Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Omphalocele, Anal... ORPHA:95706
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Matthew-Wood Syndrome
Abnormal spleen morphology, Congenital diaphragmatic hernia, Failure to thrive, Duodenal stenosis... ORPHA:2470
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly OMIM:246560
46,Xx Sex Reversal 5
Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventricular septal defect, Secundum at... OMIM:618901
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Congenital muscular dystrophy, Aspiration, Absent muscle fiber merosin, Macroglossia, Intercostal... ORPHA:258
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Gastroschisis, Ventricular septal defect ORPHA:2476
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Cooper-Jabs Syndrome
Respiratory insufficiency, Congenital diaphragmatic hernia, Anteriorly placed anus, Camptodactyly... ORPHA:1488
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Failure t... ORPHA:91359
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Feeding difficulties, A... ORPHA:1143
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Abnormality of the liver, Aplasia/Hypopl... ORPHA:1834
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect ORPHA:2256
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia, Tetralogy of Fallot OMIM:617926
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Elevated hepatic transaminase, Cirrho... OMIM:613490
Emanuel Syndrome
Renal agenesis, Patent ductus arteriosus, Atrial septal defect, Micropenis, Renal hypoplasia, Pul... OMIM:609029
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Arteri... ORPHA:70475
8P23.1 Duplication Syndrome
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Atrial septal defect, Ventricular septal defect, Nephro... OMIM:208085
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Constipation, Intestinal malrotation, Congenital diaphragmatic hernia, Anal atresia,... OMIM:617602
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxemia, Bronc... ORPHA:1302
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fa... ORPHA:264675
Myotubular Myopathy With Abnormal Genital Development
High palate, Feeding difficulties, Atelectasis, Myopathy, Respiratory distress, Centrally nucleat... OMIM:300219
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Renal hypoplasia, Hydronephrosis, Abnormal heart morphology, Abnormal cardiac sep... OMIM:618494
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Congenital diaphragmatic hernia, Bilateral renal atrophy, Renal insufficiency, Stage... OMIM:166300
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Hydronephrosis, Double outlet right ventricle, Pulmoni... OMIM:220210
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Meier-Gorlin Syndrome 8
Renal hypoplasia OMIM:617564
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Omphalocele, Urethral obstruction, Renal dysplasia, Hypertrophy of the urinary ... OMIM:601389
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Infantile Myofibromatosis
Tracheoesophageal fistula, Chondrocalcinosis, Neoplasm of the lung, Abnormal intestine morphology... ORPHA:2591
Ppoma
Cholelithiasis, Subcutaneous lipoma, Intestinal carcinoid, Gastrointestinal hemorrhage, Constipat... ORPHA:97278
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Intestinal... ORPHA:97286
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Myopathy, Cardiomyopathy, ... OMIM:614922
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Laryngotracheal Angioma
Feeding difficulties, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheez... ORPHA:137935
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Ileus, Hepatic steatosis, Flexion contracture, Constipation, Muscular dystrophy, S... OMIM:613327
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Gastroesophageal reflux, Splenomegaly, Pleural effusion, Cough, Pulmoni... ORPHA:2414
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Feeding difficulties in infancy, Reduced ejection fraction, Abnormal l... ORPHA:45452
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Honeycomb lung, Pulmonary insuff... ORPHA:2032
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Lower limb muscle weakness, Macroglossia, Dysphagia, Left ventricular hype... ORPHA:365
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Ventricular septal defect, Truncus arteriosus OMIM:601355
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Ventricular s... OMIM:253300
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Hepatomegaly, Recurrent aphthous stomatitis, Abdominal ... ORPHA:343
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ureteral stenosis, Total anomalous pulmonary venous return, Patent ductus... OMIM:270100
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Feeding difficulties, Respiratory distress OMIM:606164
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Donnai-Barrow Syndrome
Omphalocele, Intestinal malrotation, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Congenital Hypothyroidism
Sinusitis, Feeding difficulties in infancy, Arrhythmia, Constipation, Tracheoesophageal fistula, ... ORPHA:442
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Burn-Mckeown Syndrome
Atrial septal defect, Renal hypoplasia, Ventricular septal defect, Hypomimic face OMIM:608572
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Anomalous pulmonary venous return, Intestinal malrotation, ... ORPHA:244
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Double outle... OMIM:179613
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Anal atresia, Congenital diaphragmatic hernia, Inguinal hernia, ... ORPHA:2063
Waardenburg-Shah Syndrome
Constipation, Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Intestinal ob... ORPHA:897
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Feeding difficulties, Hypertension, Respiratory d... OMIM:616733
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Reduced forced expiratory volume in one sec... OMIM:219700
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Grfoma
Intestinal carcinoid, Gastrointestinal hemorrhage, Constipation, Intrahepatic cholestasis, Neopla... ORPHA:97261
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Renal insufficiency OMIM:615993
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency OMIM:201310
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Patent foramen ovale, Renal hypoplasia, Joint contracture of the 5th finge... OMIM:618914
Arterial Tortuosity Syndrome
Hiatus hernia, High palate, Bruising susceptibility, Flexion contracture, Aortic regurgitation, T... OMIM:208050
Farber Disease
Recurrent upper respiratory tract infections, Flexion contracture, Hepatic failure, Hepatosplenom... ORPHA:333
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Double... OMIM:618316
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Feeding difficulties, Congenital diaphragmatic hernia, Dysphagia, P... OMIM:300978
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tor... OMIM:249670
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multiple glomerular cysts, Atrial septal defect, Situs inversus totalis, Mult... OMIM:267010
Developmental And Epileptic Encephalopathy 30
Feeding difficulties, Respiratory distress OMIM:616341
Even-Plus Syndrome
Patent foramen ovale, Atrial septal defect, Renal hypoplasia, Recurrent urinary tract infections,... OMIM:616854
15Q24 Microdeletion Syndrome
Small for gestational age, Hernia, Obesity, Feeding difficulties, Congenital diaphragmatic hernia... ORPHA:94065
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Small for gestational age, Asthma, Chronic diarrhea, Absence of subcutaneous... OMIM:601675
Combined Oxidative Phosphorylation Deficiency 7
Failure to thrive, Facial diplegia, Paralytic ileus, Skeletal muscle atrophy OMIM:613559
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft palate, Congenital diaphragmatic hernia OMIM:612530
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Nasogastric tube feeding in infancy, Respiratory failure requiring assisted ventilation, Lower li... ORPHA:90117
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Renal hypoplasia, Ventricular septal defect, Pulmonary artery stenosis ORPHA:75389
Xp22.13P22.2 Duplication Syndrome
High palate, Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia, Trunc... ORPHA:284180
Somatostatinoma
Subcutaneous lipoma, Gastrointestinal hemorrhage, Constipation, Gallbladder dysfunction, Anorexia... ORPHA:97283
Granulomatosis With Polyangiitis
Pulmonary infiltrates, Gastrointestinal hemorrhage, Hypertension, Pancreatitis, Arrhythmia, Cough... ORPHA:900
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Renal agenesis, Tricuspid atresia, Atrial septal defect, ... OMIM:264480
Desmoplastic Small Round Cell Tumor
Ileus, Hepatomegaly, Nausea and vomiting, Neoplasm of the lung, Abdominal pain, Abdominal distent... ORPHA:83469
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Patent ductus arteriosus, Micropenis, Renal hypoplasia, Umbilical hernia, Hypospa... ORPHA:171839
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Igg4-Related Aortitis
Asthma, Abdominal pain, Intestinal obstruction, Weight loss ORPHA:449400
Emanuel Syndrome
High palate, Ectopic anus, Bifid uvula, Multiple joint contractures, Constipation, Gastroesophage... ORPHA:96170
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy, 3-Methylglutaric aciduria, Inguinal hernia OMIM:250951
Leukodystrophy, Hypomyelinating, 17
Feeding difficulties, Flexion contracture, Respiratory distress OMIM:618006
Castleman Disease
Abnormality of the gastrointestinal tract, Cough, Jaundice, Dyspnea, Abdominal pain, Abdominal di... ORPHA:160
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress, Axial muscle stiffness ORPHA:240085
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, Hypertrophic cardiomyopathy OMIM:619053
Pancreas, Annular
Annular pancreas, Duodenal stenosis, High intestinal obstruction OMIM:167750
Annular Pancreas
Annular pancreas, Duodenal stenosis, High intestinal obstruction ORPHA:675
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Right ventricular hypertro... OMIM:614261
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Increased stool alpha1-antitrypsin concentration, Vomiting, Intussusce... ORPHA:90363
Meacham Syndrome
Tetralogy of Fallot, Enlarged kidney, Horseshoe kidney, Patent ductus arteriosus, Atrial septal d... OMIM:608978
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... ORPHA:1330
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Renal insufficiency, Vesicourete... ORPHA:1475
Gastroschisis
Gastroschisis ORPHA:2368
Halperin-Birk Syndrome
High palate, Flexion contracture, Aspiration, Gastroesophageal reflux, Congenital diaphragmatic h... OMIM:618651
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Periportal fibrosis, Congenital diaphragmatic hernia, Omphalocele, Abnormal ... OMIM:263210
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalve... OMIM:612387
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Renal hypoplasia OMIM:276950
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs inversus totalis, Pul... OMIM:615415
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis OMIM:613390
Congenital Disorder Of Glycosylation, Type Iu
High palate, Feeding difficulties, Elevated hepatic transaminase, Respiratory distress, Neonatal ... OMIM:615042
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Cleft palate, Congenital diaphragmatic hernia OMIM:614294
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Cebalid Syndrome
High palate, Feeding difficulties, Congenital diaphragmatic hernia OMIM:618774
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia, Abnormal lung lobation, Respira... ORPHA:1120
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Arthrogryposis multiplex congenita OMIM:236500
Mullegama-Klein-Martinez Syndrome
Failure to thrive, Cleft palate, Congenital diaphragmatic hernia OMIM:301022
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Failure to thrive in infancy, Cholestasis, Blood... ORPHA:810
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Myocardial infarction, Abnormal onset of bleeding ORPHA:3325
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Aplasia of the left hemidiaphragm, Feeding difficulties OMIM:618238
Cardiac Diverticulum
Diastasis recti, Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Mitral stenosis, V... ORPHA:1686
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus, Midshaft hypospadias, Dextrocardia, Renal hypoplasia/aplasia, Camptodac... ORPHA:2863
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Ai... ORPHA:1303
Poland Syndrome
Hypoplasia of serratus anterior muscle, Absence of pectoralis minor muscle, Unilateral absence of... OMIM:173800
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Renal hypoplasia, Hypoplastic left heart, Mitral stenosis, Aortic valve ste... OMIM:617660
Acute Lung Injury
Pulmonary infiltrates, Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Res... ORPHA:178320
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial sept... OMIM:108900
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Bifid ureter, Horseshoe kidney, Decrea... OMIM:617641
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Zygomycosis
Cellulitis, Pulmonary infiltrates, Nausea, Gastrointestinal hemorrhage, Hematemesis, Hepatitis, P... ORPHA:73263
Joubert Syndrome 18
Camptodactyly, Horseshoe kidney, Ventricular septal defect OMIM:614815
Glucagonoma
Subcutaneous lipoma, Gastrointestinal hemorrhage, Stomatitis, Constipation, Anorexia, Hepatomegal... ORPHA:97280
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Splenomegaly, Ankle flexion contracture, Hepatomegaly, Knee flexion contractu... OMIM:608799
Marden-Walker Syndrome
Micropenis, Renal hypoplasia, Decreased muscle mass, Dextrocardia, Congenital contracture, Inguin... OMIM:248700
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Constipation, Protracted diarrhea, Mechanical ileus, Midgut malrotation, Fu... ORPHA:100079
Autosomal Recessive Spondylocostal Dysostosis
Respiratory insufficiency, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of fin... ORPHA:2311
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Patent foramen ovale, Atrial septal defect, Renal hypoplasia, Ventricular septa... OMIM:609053
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Congenital diaphragmatic hernia, Nephroblastoma,... OMIM:194080
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Bruising susceptibility, Myositis, Constipation, Peritonitis, Splenomegaly, Abdominal... ORPHA:32960
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Hydronephrosis, Renal hypoplasia, Coa... OMIM:618454
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotransposition of ... OMIM:619657
Proximal 16P11.2 Microduplication Syndrome
Failure to thrive, Decreased body mass index, Congenital diaphragmatic hernia ORPHA:370079
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Foot dorsiflexor weakness, Patent foramen ovale, Atrial septal defect, Double o... ORPHA:477817
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Zollinger-Ellison Syndrome
Multiple lipomas, Hematochezia, Nausea, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, ... ORPHA:913
Exstrophy-Epispadias Complex
Absent penis, Inguinal hernia, Renal dysplasia, Bladder duplication, Cystocele, Penoscrotal trans... ORPHA:322
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Supravalvular aortic stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Recur... OMIM:219100
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness, Dyspnea, Cardiomyopathy, Respiratory insufficiency, Global... OMIM:606842
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Avian Influenza
Nonproductive cough, Pulmonary infiltrates, Rhabdomyolysis, Pneumonia, Hypoxemia, Ground-glass op... ORPHA:454836
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Feeding difficulties in infancy, Respiratory failure requiring assisted ventilation, Shortened PR... ORPHA:308552
Seckel Syndrome 9
Pulmonary artery hypoplasia, Small for gestational age, Asthma, Congenital diaphragmatic hernia, ... OMIM:616777
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Pneumonia, Chronic diarrhea, Failure to thrive, Rec... OMIM:600802
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Cardiomegaly, Lower limb muscle weakness, Proximal muscl... ORPHA:268
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Lymphoid Interstitial Pneumonia
Hypoxemia, Crackles, Pulmonary venous hypertension, Wheezing, Centrilobular ground-glass opacific... ORPHA:79128
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Prune Belly Syndrome
Tetralogy of Fallot, Abnormality of the ureter, Patent ductus arteriosus, Atrial septal defect, R... ORPHA:2970
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Failure to thrive, Respiratory distress OMIM:245590
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Hepatomegaly, Chronic tubulointerstitial nephr... OMIM:614376
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Hepatosplenomegaly, Reticular pattern on p... ORPHA:99931
Meckel Syndrome 12
Renal agenesis, Renal hypoplasia, Ureteral hypoplasia, Arthrogryposis multiplex congenita OMIM:616258
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Ma... ORPHA:226313
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Bive... ORPHA:860
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Interstitial Lung Disease 1
Restrictive ventilatory defect, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Inguinal hernia,... OMIM:616028
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Coarctation of aorta, Inguinal hernia, Ventricular septal defect,... OMIM:616145
Cystic Echinococcosis
Weight loss, Abnormality of the pancreas, Biliary tract obstruction, Abnormality of the diaphragm... ORPHA:400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Ventricular fibrillation, Small for gestational age, Arrhythmia, Obesity, Feeding diff... ORPHA:26793
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Parench... ORPHA:36238
Porphyria Variegata
Proximal muscle weakness in upper limbs, Ileus, Nausea, Abnormality of the liver, Constipation, A... ORPHA:79473
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616501
Distal Trisomy 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system, Hernia ORPHA:1745
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia, High palate ORPHA:1520
Maternal Phenylketonuria
Tetralogy of Fallot, Bladder exstrophy, Double outlet right ventricle, Coarctation of aorta, Hypo... ORPHA:2209
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Feeding difficulties, Respiratory distress OMIM:300934
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Renal cyst, Hepatic cysts, Ventricular septal defect OMIM:263630
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Congenital diaphragmatic hernia, High, narrow palate, Inguin... ORPHA:2409
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Nausea, Crackles, Dysphagia, Diarrhea, Ecchymosis, Hypotension, Myoca... ORPHA:319213
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, High palate, Hypoventilation, Poor suck, Skeletal muscle atrophy, Sl... ORPHA:98915
Lambert Syndrome
Inguinal hernia, Hypospadias, Ventricular septal defect ORPHA:1296
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Respiratory distress OMIM:618426
Vacterl/Vater Association
Abnormality of the pancreas, Aplasia/Hypoplasia of the lungs, Abnormality of the gallbladder, Tra... ORPHA:887
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Ileus, Myositis, Pneumonia, Failure to thrive in infancy, Secretory diarrhea, Colitis, Vomiting, ... ORPHA:37042
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Fibrinogen Deficiency
Micropenis, Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Cleft palate, Congenital diaphragmatic hernia, Submucous cleft hard palate ORPHA:250999
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Obesity, Feeding difficulties, Congenital diaphragmatic hernia, Failure ... ORPHA:261197
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Vomiting OMIM:237310
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Anteriorly displaced urethral meatus, Horseshoe kidney OMIM:266810
Hypoglossia With Situs Inversus
High palate, Feeding difficulties in infancy, Microglossia, Upper airway obstruction, Asplenia, R... OMIM:612776
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intermittent diarrhea, Small for gestational age, Hernia, Inte... ORPHA:2255
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... OMIM:173900
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Hand muscle atrophy, Nocturnal hypoventilation, Respiratory insufficiency, Dyspne... OMIM:211530
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Increased hepatocellular lipid droplets, Increased intramyocellular lipid droplets, ... OMIM:220110
Familial Mediterranean Fever
Oral leukoplakia, Arrhythmia, Constipation, Peritonitis, Myocardial infarction, Pancreatitis, Spl... ORPHA:342
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Flexion contracture, Congestive heart failure, Abnormal bowel sounds, Gast... ORPHA:220393
Slc35A1-Cdg
Cellulitis, Pneumonia, Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Abnormal bleeding, ... ORPHA:238459
2Q37 Microdeletion Syndrome
Tracheomalacia, Obesity, Congenital diaphragmatic hernia, Pyloric stenosis, Umbilical hernia ORPHA:1001
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Aortic root aneurysm, Pa... ORPHA:730
Diamond-Blackfan Anemia 10
Respiratory distress, Cleft palate, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, Conge... ORPHA:1335
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Feeding difficulties, Anorexia, Abdominal pain, Failure to thrive, Na... ORPHA:79312
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Lower limb muscle weakness, Paralytic ileus, Oral-pharyngeal dysphagia, ... ORPHA:254930
Poliomyelitis
Hypovolemic shock, Respiratory failure requiring assisted ventilation, Nausea, Abnormal skeletal ... ORPHA:2912
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... OMIM:617478
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Sanjad-Sakati Syndrome
Recurrent respiratory infections, Myopathy, Abnormal dental enamel morphology, Intestinal obstruc... ORPHA:2323
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Left atrial enlargement, Restrictive cardiomyopathy OMIM:115210
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Meningocele, Abnormal tricuspid valve morphology ORPHA:1759
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Cleft palate, Congenital diaphragmatic hernia, Abnormality of mes... ORPHA:2075
Myotonic Dystrophy 1
Cholelithiasis, Feeding difficulties in infancy, Atrial flutter, First degree atrioventricular bl... OMIM:160900
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal localization of kidney, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Acute Intermittent Porphyria
Proximal muscle weakness in upper limbs, Ileus, Pseudobulbar paralysis, Proximal muscle weakness ... ORPHA:79276
Aspergillosis
Pulmonary infiltrates, Hepatitis, Diffuse reticular or finely nodular infiltrations, Intracranial... ORPHA:1163
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, High palate, Gastroesophageal reflux, Feeding difficulties, Congenit... ORPHA:363528
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia OMIM:618022
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Centrilobular ground-glass opacification on pulmonary HRCT, Elevated jugular venous pressure, Abn... OMIM:265450
Cocaine Intoxication
Intestinal perforation, Pulmonary infiltrates, Nausea, Tachypnea, Hypertension, Prolonged QRS com... ORPHA:90068
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Porphyria, Acute Intermittent
Nausea, Constipation, Vomiting, Paralytic ileus, Abdominal pain, Respiratory paralysis, Hypertens... OMIM:176000
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Hernia of the abdominal wall, Abnormality of the u... ORPHA:2184
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Atrial Septal Defect 1
Atrial septal defect, Subvalvular aortic stenosis, Atrial septal dilatation, Ventricular septal d... OMIM:108800
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal... ORPHA:2516
Waardenburg Syndrome Type 3
Atelectasis, Camptodactyly of finger, Tracheomalacia ORPHA:896
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration, ... OMIM:222448
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Situs inversus totalis OMIM:615482
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Hematuria, Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Nephropa... OMIM:611773
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... ORPHA:3426
Brain Malformations With Or Without Urinary Tract Defects
Inguinal hernia, Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Hydronephrosis, ... ORPHA:1926
Penile Agenesis
Fetal pyelectasis, Urethral atresia, male, Cystic renal dysplasia, Urethral fistula, Unilateral r... ORPHA:49
Pulmonary Arteriovenous Malformation
Hypoxemia, Pulmonary hemorrhage, Ischemic stroke, Cough, Myocardial infarction, Dyspnea, Pulmonar... ORPHA:2038
Fryns Syndrome
High palate, Ectopic anus, Intestinal malrotation, Gastroesophageal reflux, Aganglionic megacolon... ORPHA:2059
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypn... ORPHA:217563
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double out... ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Skeletal muscle atrophy, Pulmonary arterial hypertension, Inguinal hernia, Failure t... OMIM:619272
Gastrointestinal Stromal Tumor
Constipation, Gastrointestinal stroma tumor, Intestinal obstruction, Dysphagia OMIM:606764
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Conotruncal defect, Atrial septa... ORPHA:3097
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Nausea, Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Res... ORPHA:352447
Trisomy 1Q
Hydronephrosis, Congenital diaphragmatic hernia, Multicystic kidney dysplasia, Omphalocele, Ventr... ORPHA:261344
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Restrictive ventilatory defect, Foot dors... OMIM:164310
White-Sutton Syndrome
Poor suck, High palate, Bifid uvula, Facial hypotonia, Constipation, Gastroesophageal reflux, Obe... OMIM:616364
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Atrial septal defect, Abnormal heart morphology, Pulmonary artery atresia, Ventri... ORPHA:401935
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Cirrhosis, Familial
Jaundice, Pulmonary arterial hypertension, Esophageal varix, Abdominal distention, Hypertension, ... OMIM:215600
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:614262
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Calcinosis, Renal hypoplasia, Aminoaciduria OMIM:617913
Perlman Syndrome
Large for gestational age, Hypoplasia of the abdominal wall musculature, Pancreatic islet-cell hy... OMIM:267000
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis OMIM:613686
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the gl... OMIM:616730
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... ORPHA:199241
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
White-Sutton Syndrome
High palate, Feeding difficulties in infancy, Abnormality of the gastrointestinal tract, Ventral ... ORPHA:468678
Duane-Radial Ray Syndrome
Renal agenesis, Small thenar eminence, Upper limb muscle hypoplasia, Horseshoe kidney, Renal malr... OMIM:607323
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Syndromic Diarrhea
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Renal hypoplasia, Peripheral... ORPHA:84064
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Renal agenesis, Congenital diaphragmatic hernia, Hypoplasia of the bladder, Ventricular septal de... OMIM:611812
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia OMIM:221950
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Flexion contracture, Acute infantile spinal muscular atrophy, Generalized amyotrophy... OMIM:271225
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy OMIM:613623
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Nausea, Poor appetite, Feeding difficulties, Hepatomegaly, Reye syndrome-like episodes, Failure t... ORPHA:927
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the kidney, Ventricular septal defect OMIM:616901
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Esophageal Atresia
Aspiration, Failure to thrive in infancy, Gastrointestinal dysmotility, Anorectal anomaly, Dyspha... ORPHA:1199
Bresek Syndrome
Renal hypoplasia, Renal dysplasia, Hypoplasia of the bladder, Vesicoureteral reflux ORPHA:85284
8P23.1 Microdeletion Syndrome
High palate, Hypertrophic cardiomyopathy, Obesity, Congenital diaphragmatic hernia, Pulmonary art... ORPHA:251071
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior ve... OMIM:614954
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Congenital Myasthenic Syndrome
Poor suck, Central sleep apnea, Dysphagia, Arthrogryposis multiplex congenita, High palate, Nasal... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Poor suck, Central sleep apnea, Dysphagia, Arthrogryposis multiplex congenita, High palate, Nasal... ORPHA:98914
Multiple Pterygium Syndrome, Escobar Variant
High palate, Bilateral camptodactyly, Congenital diaphragmatic hernia, Inguinal hernia, Diaphragm... OMIM:265000
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Hydronephrosis, Ventricular septal defect, Arthr... OMIM:607598
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Ground-glass opacification, Reduced forced expiratory volume in o... OMIM:300770
Limited Cutaneous Systemic Sclerosis
Mucosal telangiectasiae, Contractures involving the joints of the feet, Gastroesophageal reflux, ... ORPHA:220402
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Diastasis recti, Hernia, Gastroesophageal reflux, Congenital dia... ORPHA:2092
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Contractures of the large joints, Hepatomegaly, Recurrent respiratory infections, Fa... ORPHA:329178
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Respiratory distress OMIM:618201
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Hypoplasia of penis, Renal dysplasia, Renal insufficiency, Umbilical hernia ORPHA:85321
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Tachypnea, Respiratory failure, Hepatocellu... OMIM:618278
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Respiratory failure requiring assisted ventilation, Restrictive ventilator... ORPHA:90060
Cach Syndrome
Hepatosplenomegaly, Renal hypoplasia, Flexion contracture, Arthrogryposis multiplex congenita ORPHA:135
Idiopathic Hypereosinophilic Syndrome
Pulmonary infiltrates, Cholangitis, Chronic hepatitis, Abdominal distention, Portal fibrosis, Dys... ORPHA:3260
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Pancreatic hypoplasia, Congenital diaphragmatic herni... OMIM:600001
Malaria
Nausea and vomiting, Respiratory distress ORPHA:673
Polymyositis
Gastrointestinal hemorrhage, Constipation, Chondrocalcinosis, Abnormal pulmonary interstitial mor... ORPHA:732
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis OMIM:611884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Vascular dil... OMIM:617056
Nipah Virus Disease
Anorexia, Hypotension, Cough, Nausea and vomiting, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Zaki Syndrome
Renal agenesis, Hydronephrosis, Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619648
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Transketolase Deficiency
Renal cyst, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal corona... ORPHA:488618
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Portal hypertension, Hepatosplenomegaly, Abnormal breath sound, C... ORPHA:210136
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Pulmonary infiltrates, Restrictive ventilatory defect, Shagreen patch, Ga... ORPHA:538
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hydronephrosis, Dextrocardia, Ureteral agenesis, Aplasia of ... ORPHA:2437
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Micropenis, Double outlet ri... ORPHA:2326
Bardet-Biedl Syndrome 17
Renal cyst, Micropenis, Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney di... OMIM:615994
Primary Dystonia, Dyt4 Type
Torticollis, Dysphagia, Respiratory distress, Eunuchoid habitus ORPHA:98805