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