| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Thoracoabdominal Syndrome |
|
Ventral hernia, Omphalocele, Transposition of the great arteries, Ectopia cordis, Patent ductus a... |
OMIM:313850 |
| Bronchopulmonary Dysplasia |
|
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ve... |
ORPHA:70589 |
| Holzgreve Syndrome |
|
Renal agenesis, Hypoplastic left heart, Renal hypoplasia |
OMIM:236110 |
| Pseudomyxoma Peritonei |
|
Abnormality of the peritoneum, Inflammation of the large intestine, Respiratory insufficiency, In... |
ORPHA:26790 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Hypoxemia, Respiratory distress, Conge... |
ORPHA:2140 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Renal cyst, Ventricular septal defect, Double outlet right ventricle, Hypospad... |
OMIM:231060 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Renal in... |
OMIM:615996 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Atelectasis, Distal lower limb muscle weakness, Proximal upper limb mu... |
ORPHA:254361 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Syncope, Failure to t... |
ORPHA:60032 |
| Bronchogenic Cyst |
|
Abnormality of the peritoneum, Abnormality of the diaphragm, Dyspnea, Atelectasis, Cough, Abnorma... |
ORPHA:2357 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Anomalous origin of left coronary artery from the pulmonary artery, Hypoplastic left heart, Urete... |
OMIM:618845 |
| Megabladder, Congenital |
|
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Multiple glomerular cysts,... |
OMIM:618719 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Feeding difficulties, Cleft palate, Respiratory distress, Upper ai... |
ORPHA:141152 |
| Fetal Encasement Syndrome |
|
Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney, Omphal... |
OMIM:613630 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Asbestos Intoxication |
|
Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur... |
ORPHA:2302 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Intestinal obstruction, Functional abnormality of the gastrointesti... |
ORPHA:388 |
| Constricting Bands, Congenital |
|
Bladder exstrophy, Ectopia cordis, Gastroschisis, Omphalocele |
OMIM:217100 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer... |
OMIM:266600 |
| Budd-Chiari Syndrome |
|
Peritonitis, Acute hepatic failure, Jaundice, Malabsorption, Gastrointestinal infarctions, Intest... |
ORPHA:131 |
| Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... |
OMIM:619350 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, High palate, Gastroesophageal reflux, Restrictive ventilatory defect, Re... |
OMIM:614399 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, High palate, Ventilator dependence with inability to wean, Myopathy, Abnormality of... |
ORPHA:254864 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:615779 |
| Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Emphysema, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... |
OMIM:253700 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Ventricular septal defect, Abnormal renal tubule morphology, Renal insuffic... |
ORPHA:1909 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Respirator... |
OMIM:300580 |
| Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... |
ORPHA:50251 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... |
OMIM:613092 |
| Pulmonary Blastoma |
|
Dyspnea, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Pulmonary infiltrates, Weight loss |
ORPHA:64741 |
| Gaucher Disease Type 2 |
|
Cardiac arrest, Recurrent respiratory infections, Cough, Hepatomegaly, Dysphagia, Respiratory dis... |
ORPHA:77260 |
| Microphthalmia, Syndromic 12 |
|
Cleft palate, Intestinal malrotation, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:615524 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Dyspnea, Lung abscess, Liver abscess, Acute colitis, Cough, Intestinal obstruction, Elevated hepa... |
ORPHA:67 |
| Alagille Syndrome 2 |
|
Proteinuria, Pulmonic stenosis, Tetralogy of Fallot, Renal cyst, Atrial septal defect, Renal insu... |
OMIM:610205 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia,... |
OMIM:601163 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc... |
OMIM:619466 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Dyspnea, Atelectasis, Restrictive ventilatory defect, ... |
ORPHA:2902 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... |
OMIM:606217 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... |
OMIM:253240 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Pulmonic ste... |
OMIM:615382 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... |
OMIM:267450 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... |
OMIM:614779 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... |
OMIM:615294 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
| Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Pulmonary hypoplasia, Hypoxemia... |
ORPHA:2847 |
| Hadziselimovic Syndrome |
|
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, V... |
OMIM:612946 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Typ... |
OMIM:605809 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... |
OMIM:613854 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Inguinal hernia, Microphallus, Tetralogy of Fallot, Corpus cavernosum hypop... |
OMIM:615542 |
| Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Volvulus, Abdominal distention, Constipation, Intestinal malrota... |
OMIM:193250 |
| Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Esophageal neoplasm, Biliary t... |
ORPHA:2869 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Fiber type grouping, Plantar flexion contracture, Wrist drop, Distal arthrogryposis,... |
OMIM:620011 |
| Burkitt Lymphoma |
|
Abnormality of the liver, Intestinal obstruction, Abdominal pain, Gastrointestinal hemorrhage, Ab... |
ORPHA:543 |
| Perching Syndrome |
|
Camptodactyly, High palate, Feeding difficulties, Dysphagia, Respiratory distress, Joint contracture |
OMIM:617055 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Dysphagia, Type 2 muscle... |
OMIM:254210 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Malabsorption, Abdominal pain, Transient ischemic attack, Hypertrophic cardiomyopath... |
ORPHA:183 |
| Meconium Aspiration Syndrome |
|
Transient pulmonary infiltrates, Pulmonary arterial hypertension, Aspiration pneumonia, Abnormal ... |
ORPHA:70588 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... |
ORPHA:1209 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Cholestasis, Hepatomegaly, Recurrent lower respiratory tract infections, Tricuspid r... |
OMIM:620233 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Dyspnea, Muscle fiber splitting, Restrictive ventilatory defect, Type 1 muscle fiber predominance... |
ORPHA:178464 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... |
OMIM:617205 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... |
OMIM:604169 |
| Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, EMG: myopathic abnormalities, Right ventricular hypertrophy, Achilles tendon contra... |
ORPHA:353 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent pne... |
OMIM:616726 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Hypoplastic left heart, Chronic kidney disease, Unilateral renal agenesis, Patent ductus arterios... |
OMIM:617661 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Abnormal intestine morphology, Malabsorption, Intestinal obstruction, Hepatomegaly, Pulmonary emb... |
OMIM:226300 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Skeletal muscle atrophy, Increased connective tissue, Respiratory dist... |
ORPHA:238329 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... |
ORPHA:3348 |
| Acute Interstitial Pneumonia |
|
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelec... |
ORPHA:79126 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cleft palate, Abnormality of the pulmonary artery, Respiratory insufficiency, Congenital diaphrag... |
ORPHA:1166 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Serkal Syndrome |
|
Hypoplasia of the bladder, Pulmonic stenosis, Ventricular septal defect, Abnormal penis morpholog... |
ORPHA:139466 |
| Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Dyspnea, Ileus, Abdominal distention, Abdominal pain, Weight loss |
ORPHA:168811 |
| Schisis Association |
|
Anal atresia, Small for gestational age, Cleft palate, Omphalocele, Congenital diaphragmatic hern... |
ORPHA:63862 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts, Nephropathy, Proximal tubulopathy |
ORPHA:3033 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Ileal atresia, Hematochezia, Recurrent respiratory infections, Congenital pu... |
OMIM:243150 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... |
OMIM:217095 |
| Distal Nebulin Myopathy |
|
High palate, Slender build, Sternocleidomastoid amyotrophy, Weakness of facial musculature, Cardi... |
ORPHA:399103 |
| Immunodeficiency 95 |
|
Ground-glass opacification, Recurrent respiratory infections, Respiratory distress, Recurrent vir... |
OMIM:619773 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ground-glass opacification, Neonatal respiratory distress, Oxygen desaturation on exertion, Recur... |
OMIM:610978 |
| Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, Cough, Chronic bronch... |
OMIM:613490 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplastic left heart |
ORPHA:3316 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... |
OMIM:613751 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Elevated hepatic transaminase, Fa... |
OMIM:613561 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Feeding difficulties, Elevated circulating aspartate aminotransferase co... |
OMIM:616974 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakne... |
ORPHA:86812 |
| X-Linked Centronuclear Myopathy |
|
Recurrent respiratory infections, High palate, Weakness of facial musculature, Necklace skeletal ... |
ORPHA:596 |
| Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachypnea, Atelectasis, Hypotension, Hypoxemia, Respiratory tract infection, Pulm... |
ORPHA:70587 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Inguinal hernia, Pulmonic stenosi... |
OMIM:208530 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatosplenomegaly, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Myopathy,... |
ORPHA:85450 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Renal hypoplasia, Ventricular septal defect |
OMIM:616589 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... |
OMIM:109730 |
| Desmoid Tumor |
|
Malabsorption, Intestinal obstruction, Abdominal pain, Gastrointestinal hemorrhage, Desmoid tumor... |
ORPHA:873 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the rectum, Abnormality of the liver, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
| 13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Camptodactyly, Failure to thrive, Constipation, Obstructive sle... |
ORPHA:412035 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Spinal muscular atrophy, Myopathy, Respiratory insu... |
ORPHA:254875 |
| Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Pulmonary hypoplasia, Failure to thrive, Congenital diaphragmatic her... |
ORPHA:2470 |
| Limb Body Wall Complex |
|
Diastasis recti, Abnormality of the kidney, Atrial septal defect, Ventricular septal defect, Vent... |
ORPHA:2369 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... |
OMIM:610921 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... |
OMIM:618901 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Burn-Mckeown Syndrome |
|
Inguinal hernia, Atrial septal defect, Hypomimic face, Ventricular septal defect, Unilateral rena... |
OMIM:608572 |
| Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Pulmonary artery atresia, Inguinal hernia, Coarctation of aorta, Pulmonic stenosi... |
OMIM:601186 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
| Anaplastic Thyroid Carcinoma |
|
Dyspnea, Abnormal skeletal muscle morphology, Stridor, Cough, Neoplasm of the lung, Dysphagia, Up... |
ORPHA:142 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Atelectasis, Reduced left ventricular ejection fraction, Intercostal muscle weakness,... |
ORPHA:258 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Aplasia/Hypoplasia of the l... |
ORPHA:1834 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Glycosuria, Ventricular septal defect, Nephropathy, Hepatomegaly, ... |
OMIM:613404 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Feeding difficulties, Myopathy, Cardiomyopathy, Failure to thrive, Respiratory distress, Hepatic ... |
ORPHA:26792 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Constipation, Bradycardia, Atrial fibrillation, Lipodystrophy, Skeletal muscle hype... |
OMIM:613327 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Low-output congestive heart failure, Failure to thrive, Respiratory distress, Hypertrop... |
ORPHA:91130 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Proximal amyotrophy, Weakness of orbicularis oculi muscle, Shoulder... |
ORPHA:2596 |
| Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Small for gestational age, Cleft palate, Omphalocele, Congenita... |
ORPHA:95706 |
| Infantile Myofibromatosis |
|
Chondrocalcinosis, Abnormal intestine morphology, Neoplasm of the pancreas, Intestinal obstructio... |
ORPHA:2591 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Respiratory distress |
OMIM:619099 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... |
OMIM:619702 |
| Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Feeding difficulties, Atelectasis, Myopathy, Respiratory distress, Centrally nucleat... |
OMIM:300219 |
| Oligomeganephronia |
|
Secundum atrial septal defect, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease... |
ORPHA:2260 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia, Tetralogy of Fallot |
OMIM:617926 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Gastroschisis, Ventricular septal defect |
ORPHA:2476 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Prolonged prothrombin time, Myopathy, Respiratory insufficiency, Skeletal mus... |
ORPHA:367 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Ground-glass opacification, Hyperventilation, Cough, Hypoxemia, Failure ... |
ORPHA:91359 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Ureteral stenosis, Double inlet left ventricle, Coarctati... |
OMIM:270100 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Hypertrophy of the urinary bladder, Renal dysplasia, Omphalocele, Urethral obstruction, Renal hyp... |
OMIM:601389 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Cough, Failure to thrive, ... |
OMIM:263000 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Pulmonary opacity, Cough, Respiratory distress, Bronchiec... |
ORPHA:411703 |
| Acrocallosal Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:36 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Weakness of facial musculature, Muscle fiber atrophy, Right ventricu... |
ORPHA:324604 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Feeding difficulties, Lower limb muscle weakness, Respiratory insufficiency due to muscle weaknes... |
ORPHA:1143 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Gastroesophageal reflux, Feeding difficulties, Elevated circulating aspartate aminotransferase co... |
OMIM:615595 |
| Radiation Proctitis |
|
Rectal fistula, Hematochezia, Tenesmus, Abnormality of connective tissue, Intestinal obstruction,... |
ORPHA:70475 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1937 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Split-Hand/Foot Malformation 3 |
|
Camptodactyly, Renal hypoplasia |
OMIM:246560 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Spinal muscular atrophy, Respiratory insufficiency, Weakness of facial musculature, ... |
ORPHA:1145 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Anteriorly placed anus, Respiratory insufficiency, Umbilical hernia, Con... |
ORPHA:1488 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Renal hypoplasia, Ventricular septal defect |
ORPHA:2256 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:220210 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Chronic pulmonary obstruction, Pulmonic... |
ORPHA:2414 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Failure to thrive in infancy, Hypoxemia, Crazy ... |
ORPHA:264675 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Verheij Syndrome |
|
Renal cyst, Ventricular septal defect, Truncus arteriosus, Renal agenesis, Renal hypoplasia |
OMIM:615583 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Inspiratory crackles, Ground-glass opacification, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmon... |
ORPHA:79127 |
| Cryptogenic Organizing Pneumonia |
|
Ground-glass opacification, Dyspnea, Restrictive ventilatory defect, Cough, Anorexia, Hypoxemia, ... |
ORPHA:1302 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Bilateral renal atrophy, Renal insufficiency, Congen... |
OMIM:166300 |
| Cystic Fibrosis |
|
Chronic sinusitis, Meconium ileus, Hepatomegaly, Reduced forced vital capacity, Rectal prolapse, ... |
OMIM:219700 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Anal atresia, Inguinal hernia, Aplasia/Hypoplasia of the lungs, Narrow palate, Congenital diaphra... |
ORPHA:2063 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2143 |
| Ppoma |
|
Nausea and vomiting, Intermittent jaundice, Intrahepatic cholestasis, Poor appetite, Neoplasm of ... |
ORPHA:97278 |
| Carney-Stratakis Syndrome |
|
Intestinal obstruction, Abdominal pain, Dysphagia, Gastrointestinal stroma tumor, Gastrointestina... |
ORPHA:97286 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Congenital diaphragmatic hernia |
OMIM:300887 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Vasculitis, Recurrent aphthous stomatitis, Intestinal obstruction, Hepatomegaly, Abd... |
ORPHA:343 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Bowel incontinence, Atelectasis, Respiratory insufficiency due to muscle weakness, Left ventricul... |
ORPHA:365 |
| Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormality of the peritoneum, Ileus, Neoplasm of the pancreas, Neoplasm of the lung, Hepatomegal... |
ORPHA:83469 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... |
OMIM:616749 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Mesocardia, Dextrocardia, Atrioventricular canal defect, Bilateral superi... |
OMIM:605376 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Recurrent sinopulmonary infections, Chronic sinusitis, Asplenia, A... |
ORPHA:244 |
| Grfoma |
|
Hepatomegaly, Constipation, Cholelithiasis, Hypoactive bowel sounds, Poor appetite, Lack of bowel... |
ORPHA:97261 |
| Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... |
ORPHA:185 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis, Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Vent... |
OMIM:179613 |
| Farber Disease |
|
Hepatosplenomegaly, Feeding difficulties, Atelectasis, Intrahepatic cholestasis with episodic jau... |
ORPHA:333 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Anal atresia, Inguinal hernia, Torticollis, High palate, Gastro... |
OMIM:609029 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular atrophy, Atrial sep... |
OMIM:253300 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
| Waardenburg-Shah Syndrome |
|
Abnormal intestine morphology, Intestinal obstruction, Abdominal pain, Aganglionic megacolon, Con... |
ORPHA:897 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| 15Q24 Microdeletion Syndrome |
|
Anal atresia, Small for gestational age, Feeding difficulties, Failure to thrive, Intestinal atre... |
ORPHA:94065 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Feeding difficulties, Bifid uvula, Cleft palate, Respiratory distress, Congenital diaphragmatic h... |
OMIM:606164 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect |
OMIM:601355 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Unilateral... |
OMIM:618494 |
| Even-Plus Syndrome |
|
Recurrent urinary tract infections, Atrial septal defect, Patent foramen ovale, Vesicoureteral re... |
OMIM:616854 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Nephrocalcinosis, Ventricular septal defect, Atrial septal defect, Reduced... |
OMIM:208085 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
| Congenital Hypothyroidism |
|
Macroglossia, Hypotension, Umbilical hernia, Arrhythmia, Intestinal obstruction, Abdominal disten... |
ORPHA:442 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Pulmonary hypoplasia, Periportal fibrosis, Omphalocele, Congenital diaphragmatic hernia, Flexion ... |
OMIM:263210 |
| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
| Partial Atrioventricular Septal Defect |
|
Coarctation of aorta, Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomal... |
ORPHA:1330 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
| Xp22.13P22.2 Duplication Syndrome |
|
High palate, Umbilical hernia, Truncal obesity, Congenital diaphragmatic hernia, Recurrent upper ... |
ORPHA:284180 |
| Stuve-Wiedemann Syndrome 2 |
|
Camptodactyly, Pulmonary arterial hypertension, Dysphagia, Respiratory distress, Congestive heart... |
OMIM:619751 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Dyspnea, Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Dysphagia, ... |
OMIM:603511 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Feeding difficulties, Left ventricular hypertrophy, Pulmonary hypoplas... |
OMIM:616733 |
| Tonne-Kalscheuer Syndrome |
|
Feeding difficulties, Pulmonary hypoplasia, Dysphagia, Velopharyngeal insufficiency, Congenital d... |
OMIM:300978 |
| Idiopathic Pulmonary Fibrosis |
|
Ground-glass opacification, Gastroesophageal reflux, Reticular pattern on pulmonary HRCT, Cough, ... |
ORPHA:2032 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Inguinal hernia, Pulmonic stenosis, Joint contracture of the 5th finger, U... |
OMIM:618914 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Hepatosplenomegaly, Inguinal hernia, Multiple glomerular cysts, Stage 5 c... |
OMIM:267010 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Renal hypoplasia, Ventricular septal defect |
ORPHA:75389 |
| Somatostatinoma |
|
Gallbladder dysfunction, Intermittent jaundice, Intrahepatic cholestasis, Poor appetite, Neoplasm... |
ORPHA:97283 |
| Laryngotracheal Angioma |
|
Intercostal retractions, Feeding difficulties, Cough, Apnea, Respiratory distress, Vomiting, Stri... |
ORPHA:137935 |
| Granulomatosis With Polyangiitis |
|
Pleuritis, Chronic pulmonary obstruction, Abdominal pain, Angina pectoris, Epistaxis, Recurrent r... |
ORPHA:900 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Camptodactyly, Hepatomegaly, Aminoaciduria, Lacticaciduria, Flexion contracture, 3-Methylglutacon... |
OMIM:604273 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Umbilical hernia, Patent ductus arteriosus, Renal agenesis, Renal hypoplasia, Hypospa... |
ORPHA:171839 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... |
OMIM:234810 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Ventricular septal defect, Tetralogy of Fallot, Aortic aneurysm, Subvalvular aortic stenosis, Bic... |
OMIM:614980 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Coarctation of aorta, Micropenis, Atrial septal defect, Ventricular septal defect, ... |
OMIM:264480 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Ground-glass opacification, Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased for... |
ORPHA:1303 |
| Secondary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Intestinal lymphedema, Malabsorption, Volvulus,... |
ORPHA:90363 |
| Meacham Syndrome |
|
Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Enlarged kidney, Atrial septal defect... |
OMIM:608978 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Inguinal hernia, 3-Methylglutaric aciduria, Subvalvular aortic stenosis, Biventricular hypertrophy |
OMIM:250951 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Tracheomalacia, Inguinal hernia, Gastroesophageal reflux, Feeding difficulties, Pyloric stenosis,... |
OMIM:613177 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal ... |
ORPHA:1475 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Abnormal heart morphology |
OMIM:276950 |
| Avian Influenza |
|
Rhabdomyolysis, Ground-glass opacification, Dyspnea, Tachypnea, Cough, Productive cough, Pulmonar... |
ORPHA:454836 |
| Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Anal atresia, Inguinal hernia, High palate, Gastroesophageal re... |
ORPHA:96170 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Dilated cardiomyopathy, H... |
OMIM:252011 |
| Castleman Disease |
|
Jaundice, Dyspnea, Abnormality of the gastrointestinal tract, Cough, Intestinal obstruction, Abdo... |
ORPHA:160 |
| Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Malabsorption, Absence of subcutaneous fat, Intestinal obstruction, Te... |
OMIM:601675 |
| Carnitine Deficiency, Systemic Primary |
|
Mitral regurgitation, Elevated circulating aspartate aminotransferase concentration, Myopathy, El... |
OMIM:212140 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... |
OMIM:306955 |
| Igg4-Related Aortitis |
|
Abdominal pain, Intestinal obstruction, Asthma, Weight loss |
ORPHA:449400 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Respiratory insufficiency, Tricuspid reg... |
ORPHA:1120 |
| Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis, Ectopic kidney, Enamel hypoplasia, Renal agenesis, Renal hypoplasia |
OMIM:212780 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal cyst, Myopathy, Renal insufficiency, Cardiomyopathy, Renal dysplasia, Renal tubular acidosi... |
OMIM:614922 |
| Shigellosis |
|
Peritonitis, Bloody mucoid diarrhea, Myocarditis, Tenesmus, Cholestasis, Abdominal pain, Bloody d... |
ORPHA:810 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Feeding difficulties, Aplasia of the left hemidiaphragm, Failure to thrive |
OMIM:618238 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Obesity |
OMIM:615993 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Pleuritis, Vasculitis, Bruising susceptibility, Intestinal obstruction, Abdominal pa... |
ORPHA:32960 |
| Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Facial diplegia, Skeletal muscle atrophy, Failure to thrive, Dysphagia, Facial paralysis, Paralyt... |
OMIM:613559 |
| Coffin-Siris Syndrome 3 |
|
Macroglossia, High palate, Inguinal hernia, Feeding difficulties, Umbilical hernia, Cleft palate,... |
OMIM:614608 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Camptodactyly, Anal atresia, High palate, Chronic constipation, Failure ... |
OMIM:617602 |
| Zygomycosis |
|
Peritonitis, Myocarditis, Atelectasis, Air crescent sign, Colitis, Abdominal pain, Gastritis, Nau... |
ORPHA:73263 |
| Halperin-Birk Syndrome |
|
Aspiration, High palate, Inguinal hernia, Gastroesophageal reflux, Umbilical hernia, Pseudobulbar... |
OMIM:618651 |
| 16P13.11 Microduplication Syndrome |
|
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Interstitial Lung Disease 1 |
|
Ground-glass opacification, Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ... |
OMIM:619611 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Left ventricu... |
OMIM:108900 |
| Cebalid Syndrome |
|
High palate, Feeding difficulties, Congenital diaphragmatic hernia |
OMIM:618774 |
| Cardiac Diverticulum |
|
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1686 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Dextrocardia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Midsha... |
ORPHA:2863 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal renal morphology, Atrial septal defect, Ventricular septal defect, Aortic aneurysm, Dist... |
ORPHA:477817 |
| Poland Syndrome |
|
Absence of pectoralis minor muscle, Dextrocardia, Hypoplasia of serratus anterior muscle, Unilate... |
OMIM:173800 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... |
OMIM:619657 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infections, Dextroca... |
OMIM:613095 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, O... |
OMIM:618316 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Respiratory insufficiency, Elevated circulating alani... |
ORPHA:308552 |
| Glucagonoma |
|
Glossitis, Intermittent jaundice, Stomatitis, Intrahepatic cholestasis, Poor appetite, Neoplasm o... |
ORPHA:97280 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Renal dysplasia, Arthrogryposis multiplex congenita, Ureteral agenesis, Renal hypoplasia |
OMIM:236500 |
| Acute Lung Injury |
|
Dyspnea, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Hypoxemia, Respiratory distress, Acu... |
ORPHA:178320 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Feeding difficulties, Cachexia, Failure to thrive, Respiratory distress, Diarrhea, Vomiting, Weig... |
OMIM:612075 |
| Jansen-De Vries Syndrome |
|
Gastroesophageal reflux, Feeding difficulties, Constipation, Central diaphragmatic hernia, Vomiting |
OMIM:617450 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Patent ductus arteriosus, Hypertrophic cardiomyopathy |
OMIM:616501 |
| Prune Belly Syndrome |
|
Recurrent urinary tract infections, Aplasia of the abdominal wall musculature, Atrial septal defe... |
ORPHA:2970 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Atrial septal defect, Right ventricular hypertrophy, Patent foramen ov... |
OMIM:614261 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Cardiomyopathy, Left atrial enlargement, Left ventricular hype... |
OMIM:611556 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, High palate, Feeding difficulties, Elevated hepatic transaminase, ... |
OMIM:615042 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Inguinal hernia, Respiratory insufficiency, Umbilical hernia, Cleft pala... |
ORPHA:2311 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Right ventricular hypertroph... |
ORPHA:268 |
| Zollinger-Ellison Syndrome |
|
Jaundice, Hematochezia, Peptic ulcer, Intestinal obstruction, Esophagitis, Extrahepatic cholestas... |
ORPHA:913 |
| Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Pat... |
OMIM:609053 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Feeding difficulties |
OMIM:616341 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Umbilical hernia, Supravalvular aortic stenosi... |
OMIM:219100 |
| Marden-Walker Syndrome |
|
Camptodactyly, Dextrocardia, Inguinal hernia, Micropenis, Decreased muscle mass, Congenital contr... |
OMIM:248700 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Inguinal hernia, Stage 5 c... |
OMIM:614376 |
| Neuroendocrine Neoplasm Of Appendix |
|
Intestinal carcinoid, Hepatomegaly, Ileal adenocarcinoma, Constipation, Tricuspid stenosis, Bowel... |
ORPHA:100079 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Recurrent lower respiratory tract infections, Failure to thrive, Pneumoni... |
OMIM:600802 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness |
ORPHA:240085 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Small for gestational age, Pulmonary artery hypoplasia, Congeni... |
OMIM:616777 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, High palate, Congenital diaphragmatic hernia |
ORPHA:1520 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Pulmonary hypoplasia, Submucous cleft hard palate, Congenital diaphragmatic hernia |
ORPHA:250999 |
| Lymphoid Interstitial Pneumonia |
|
Subpleural interstitial thickening, Pulmonary venous hypertension, Hypoxemia, Hepatomegaly, Paren... |
ORPHA:79128 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestational age, Overweight, Prolonged Q... |
ORPHA:26793 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Hypoplastic left heart, Atrial septal defect, Aortic valve stenosis, Vesicoureteral reflux, Mitra... |
OMIM:617660 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the kidney, Renal duplication, Inguinal hernia, Horseshoe kidney, Penoscrotal tran... |
ORPHA:322 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Camptodactyly, Muscular dystrophy, Knee flexion contracture, Hepatomegaly, Elevated hepatic trans... |
OMIM:608799 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Decreased body mass index, Failure to thrive, Congenital diaphragmatic hernia |
ORPHA:370079 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Ventricular septal d... |
ORPHA:860 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Atelectasis, Fulminant hepatitis, Nausea, Bradycardia, Hypotension, Subconjunctival ... |
ORPHA:319213 |
| Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy |
ORPHA:335 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Pulmonary infiltrates, ... |
OMIM:612387 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
| Vacterl/Vater Association |
|
Anal atresia, Aplasia/Hypoplasia of the lungs, Abnormality of the pancreas, Anorectal anomaly, Cl... |
ORPHA:887 |
| Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
| Familial Mediterranean Fever |
|
Peritonitis, Acute hepatic failure, Oral leukoplakia, Pleuritis, Vasculitis, Malabsorption, Pancr... |
ORPHA:342 |
| Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Interlobular septal thickening, Elevated jugular venous pressure... |
OMIM:265450 |
| Heparin-Induced Thrombocytopenia |
|
Abnormal onset of bleeding, Myocardial infarction, Pulmonary embolism, Cerebral ischemia |
ORPHA:3325 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate |
ORPHA:1832 |
| Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect |
OMIM:615731 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Feeding difficulties, Pyloric stenosis, Cleft palate, Failure to thrive,... |
ORPHA:261197 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Vent... |
ORPHA:1354 |
| Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism, Portal vein thrombosis |
ORPHA:82 |
| Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Hypotension, Cough, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pa... |
ORPHA:36238 |
| Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy |
OMIM:265400 |
| Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Intestinal obstruction, Abnormal dental enamel morphology, Myop... |
ORPHA:2323 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Hepatic cysts, Renal cyst, Ventricular septal defect |
OMIM:263630 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Ileus, Abnormal intestine morphology, Secretory diarrhea, Malab... |
ORPHA:37042 |
| Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Hernia, Renal hypoplasia |
ORPHA:1745 |
| Porphyria Variegata |
|
Hepatocellular carcinoma, Ileus, Abnormality of the liver, Hypertension, Elevated hepatic transam... |
ORPHA:79473 |
| Arterial Tortuosity Syndrome |
|
High palate, Inguinal hernia, Bifid uvula, Bruising susceptibility, Hiatus hernia, Umbilical hern... |
OMIM:208050 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Failure to thrive |
OMIM:245590 |
| Chronic Beryllium Disease |
|
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respirat... |
ORPHA:133 |
| Maternal Phenylketonuria |
|
Abnormal renal morphology, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ven... |
ORPHA:2209 |
| Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Pulmonic stenosis, Umbilical hernia, Right ventricular hypertrophy, Right atrial... |
OMIM:616028 |
| Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
| Lowry-Maclean Syndrome |
|
Midgut malrotation, Inguinal hernia, Pyloric stenosis, Cleft palate, High, narrow palate, Abnorma... |
ORPHA:2409 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Renal cy... |
OMIM:617478 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... |
OMIM:173900 |
| Intellectual Disability-Strabismus Syndrome |
|
High palate, Gastroesophageal reflux, Feeding difficulties, Chronic constipation, Recurrent gastr... |
ORPHA:363528 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Dextrocardia, Enlarged kidney, Atrioventricular canal defect, Urethral atresia, P... |
OMIM:314390 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Atelectasis |
ORPHA:896 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cystic renal dysplasia, Ventricular septal defect |
OMIM:613730 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Lower limb muscle weakness, Distal amyotrophy, Skeletal muscle atrophy, Failure ... |
ORPHA:254930 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, High palate, Pulmonary arterial hypertension, Myopathy, Hand muscl... |
ORPHA:98915 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Abnormal localization of kidney, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Severe Acute Respiratory Syndrome |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... |
ORPHA:140896 |
| Lambert Syndrome |
|
Hypospadias, Inguinal hernia, Ventricular septal defect |
ORPHA:1296 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Protuberant abdomen, Bradycardia, Umbilical hernia, Abdominal distention, Prolonged... |
ORPHA:226313 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy |
OMIM:115210 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Intermittent diarrhea, Aplasia/Hypoplasia of the gallbladder, Small for ge... |
ORPHA:2255 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Prune belly, Unilateral renal agenesis, Micropenis, Ventricular septal defect |
OMIM:618504 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Decreased gl... |
ORPHA:730 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Slc35A1-Cdg |
|
Hypoxemia, Respiratory distress, Cellulitis, Pneumonia, Abnormal bleeding, Pulmonary hemorrhage, ... |
ORPHA:238459 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Anomalous pulmonary venous return, Hernia of the abdominal wall, Patent duct... |
ORPHA:2184 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Right bundle branch block, Pulmonary venous hypertension, Hepatomegaly, ... |
ORPHA:1329 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Right ventricul... |
OMIM:612949 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Pulmonary hypoplasia, Cleft palate, Bilateral lung agen... |
OMIM:611812 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Feeding difficulties, Failure to thrive |
OMIM:300934 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Bruising susceptibility, Intramuscular hematoma, Persistent bleeding after tra... |
ORPHA:79 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Fryns Syndrome |
|
Anal atresia, High palate, Gastroesophageal reflux, Duodenal atresia, Pulmonary hypoplasia, Agang... |
ORPHA:2059 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Double outlet rig... |
ORPHA:3304 |
| Pentalogy Of Cantrell |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Omphalocele, Renal dysplasi... |
ORPHA:1335 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Aortic valve stenosis, Hypertrophic c... |
OMIM:615415 |
| Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
| Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy |
OMIM:616833 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Small thenar eminence, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart... |
OMIM:613390 |
| Genitopalatocardiac Syndrome |
|
Cleft palate, Abnormality of the gallbladder, Abnormality of mesentery morphology, Congenital dia... |
ORPHA:2075 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cutaneous telangiectasia, Dysphagia, Congenital diaphragmatic hernia, Conjunctival telangiectasia... |
OMIM:615919 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Feeding difficulties, Pancreatitis, Anorexia, Cardiomyopathy, Hepatomegaly, Abdominal pain, Failu... |
ORPHA:79312 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Pulmonic stenosis, Tetral... |
ORPHA:3426 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy |
ORPHA:444013 |
| 2Q37 Microdeletion Syndrome |
|
Tracheomalacia, Pyloric stenosis, Umbilical hernia, Congenital diaphragmatic hernia, Obesity |
ORPHA:1001 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
| Penile Agenesis |
|
Hydronephrosis, Atrial septal defect, Ventricular septal defect, Hydroureter, Urethral fistula, F... |
ORPHA:49 |
| Lethal Recessive Chondrodysplasia |
|
Macroglossia, Respiratory distress |
ORPHA:1423 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting, Failure to thrive |
OMIM:237310 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
| Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Dyspnea, Reduced left ventricular ejection fraction, Myopathy, Syncope, Hepatomeg... |
OMIM:115197 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Gastroesophageal reflux, Decreased body mass index, Abnormality... |
ORPHA:586 |
| Diamond-Blackfan Anemia 10 |
|
Cleft palate, Morgagni diaphragmatic hernia, Respiratory distress, Congenital diaphragmatic hernia |
OMIM:613309 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Hyperventilation, Colitis, Abdominal pain, Supraventricular arrhythmia, Bl... |
ORPHA:90068 |
| Cach Syndrome |
|
Hepatosplenomegaly, Flexion contracture, Arthrogryposis multiplex congenita, Renal hypoplasia |
ORPHA:135 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Omphalocele, Congenital diaphragmatic hernia, Intestinal malrotation, Diaphragm... |
OMIM:222448 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal... |
OMIM:616276 |
| Gastrointestinal Stromal Tumor |
|
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Constipation |
OMIM:606764 |
| Atrial Septal Defect 1 |
|
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Atrial septal dil... |
OMIM:108800 |
| Poliomyelitis |
|
Hypovolemic shock, Abnormal skeletal muscle morphology, Hypotension, Lower limb muscle weakness, ... |
ORPHA:2912 |
| Diabetic Embryopathy |
|
Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall musculature, Micropenis, Tetralogy of Fa... |
ORPHA:1926 |
| Congenital Tracheomalacia |
|
Intercostal retractions, Productive cough, Pneumothorax, Parenchymal consolidation, Esophageal at... |
ORPHA:95430 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Coarctation of aorta, Left ventricular noncompaction, Perimembrano... |
OMIM:613426 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Recurrent respiratory infections, Dyspnea, Respiratory insufficiency, Skeletal muscle atrophy, Dy... |
OMIM:211530 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Persistent left superior vena cava, Abnormal heart morphology, Tetralogy of... |
OMIM:614954 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cardiac arrest, High palate, Feeding difficulties, Myopathy, Hepatomegaly, Irregular respiration,... |
OMIM:604377 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Hypoplastic left heart, Ventricular septal defect, Ho... |
ORPHA:3097 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Ground-glass opacification, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspn... |
OMIM:265120 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Pulmonary artery steno... |
ORPHA:251071 |
| Duane-Radial Ray Syndrome |
|
Hydronephrosis, Small thenar eminence, Atrial septal defect, Horseshoe kidney, Ventricular septal... |
OMIM:607323 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Truncus arterios... |
ORPHA:2516 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Heart murmur, Liver abscess, Cough, Gastrointestinal in... |
ORPHA:2038 |
| Trisomy 1Q |
|
Hydronephrosis, Camptodactyly of finger, Ventricular septal defect, Congenital megaureter, Omphal... |
ORPHA:261344 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Ground-glass opacification, Dyspnea, Heart murmur, Diffuse alveolar hemorrhag... |
ORPHA:99931 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Atrial septal defect, Ectopic kidney, Ventricular septal defect, Abnorm... |
ORPHA:401935 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Diastasis recti, Camptodactyly of finger, Inguinal hernia, Gastroesophagea... |
ORPHA:2092 |
| Auriculocondylar Syndrome 2 |
|
Snoring, Feeding difficulties, Apnea, Cleft palate, Respiratory distress, Glossoptosis, Microglossia |
OMIM:614669 |
| Hypoglossia With Situs Inversus |
|
High palate, Asplenia, Polysplenia, Respiratory distress, Upper airway obstruction, Microglossia,... |
OMIM:612776 |
| Acute Intermittent Porphyria |
|
Hepatocellular carcinoma, Proximal muscle weakness in lower limbs, Ileus, Weakness of muscles of ... |
ORPHA:79276 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
High palate, Inguinal hernia, Pulmonary arterial hypertension, Skeletal muscle atrophy, Failure t... |
OMIM:619272 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Hydronephrosis, Inguinal hernia, Coarctation of aorta, Renal cyst, Microphallus, Ventricular sept... |
OMIM:618454 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Esophageal Atresia |
|
Aspiration, Chronic pulmonary obstruction, Cleft palate, Morphological abnormality of the gastroi... |
ORPHA:1199 |
| Porphyria, Acute Intermittent |
|
Hepatocellular carcinoma, Hypertension, Abdominal pain, Constipation, Nausea, Diarrhea, Vomiting,... |
OMIM:176000 |
| Czeizel-Losonci Syndrome |
|
High palate, Aplasia of the left hemidiaphragm, Pulmonary hypoplasia, Posterolateral diaphragmati... |
ORPHA:2437 |
| Atrial Standstill |
|
Left ventricular noncompaction, Muscular dystrophy, Cardiomyopathy, Ischemic stroke, Skeletal mus... |
ORPHA:1344 |
| White-Sutton Syndrome |
|
High palate, Gastroesophageal reflux, Feeding difficulties, Bifid uvula, Cleft palate, Constipati... |
OMIM:616364 |
| Familial Dilated Cardiomyopathy |
|
Dyspnea, Mitral regurgitation, Left ventricular systolic dysfunction, Reduced left ventricular ej... |
ORPHA:217607 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Limb hypertonia, Renal insufficiency, Stage 3 chronic kidney diseas... |
OMIM:617595 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Inguinal hernia, Aplasia of the left hemidiaphragm, Pulmonic stenosis, Umb... |
OMIM:600001 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63260 |
| Bresek Syndrome |
|
Renal dysplasia, Vesicoureteral reflux, Renal hypoplasia, Hypoplasia of the bladder |
ORPHA:85284 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Mucosal telangiectasiae, Pulmonary fibr... |
ORPHA:220402 |
| Syndromic Diarrhea |
|
Polycystic kidney dysplasia, Inguinal hernia, Atrial septal defect, Tetralogy of Fallot, Ventricu... |
ORPHA:84064 |
| Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Double inlet left ventricle, Atrial septal defect, Ventricular septal defect, Hy... |
OMIM:212093 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Inguinal hernia, Vesicoureteral reflux, Renal hypoplasia |
OMIM:613735 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:616730 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Abnormality of the hepatic vasculature, Dyspnea, Restrictive ventilatory defe... |
ORPHA:210136 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:601494 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Pulmonary hypoplasia, Congenital diaphragmatic her... |
ORPHA:958 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Arthrogryposis multiplex congenita, Renal hypoplasia, Ureteral hypoplasia |
OMIM:616258 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic sinusitis, Asplenia, Atelectasis, Chronic rhinitis, Bronchiectasis, Pneumonia, Immotile c... |
OMIM:244400 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Restrictive ventilatory defect, Cough, Ab... |
ORPHA:538 |
| White-Sutton Syndrome |
|
High palate, Inguinal hernia, Gastroesophageal reflux, Abnormality of the gastrointestinal tract,... |
ORPHA:468678 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
| Nipah Virus Disease |
|
Nausea and vomiting, Hypotension, Cough, Anorexia, Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
| Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... |
OMIM:120330 |
| Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,... |
ORPHA:97362 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Ventricular septal defect, Skeletal muscle atrophy, Dilated cardiomyopathy, Arthr... |
OMIM:607598 |
| Idiopathic Hypereosinophilic Syndrome |
|
Chronic hepatitis, Malabsorption, Intracranial hemorrhage, Colitis, Abdominal pain, Transient isc... |
ORPHA:3260 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Renal insufficiency, Renal corticomedullary cysts, Vascular dilatation... |
OMIM:219730 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Polycystic ovaries, Omphal... |
ORPHA:371428 |
| Congenital Myasthenic Syndrome |
|
Distal lower limb muscle weakness, Poor suck, Recurrent respiratory infections, Nasal regurgitati... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Distal lower limb muscle weakness, Poor suck, Recurrent respiratory infections, Nasal regurgitati... |
ORPHA:98914 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
High palate, Decreased muscle mass, Respiratory distress, Acute infantile spinal muscular atrophy... |
OMIM:271225 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Micropenis, Right aortic arch... |
ORPHA:2326 |
| Oculopharyngodistal Myopathy 1 |
|
Aspiration, High palate, Hypercapnia, Paroxysmal atrial fibrillation, Autophagic vacuoles, Distal... |
OMIM:164310 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal pulmonary interstitial m... |
ORPHA:217563 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Recurrent respiratory infections, High palate, Hepatomegaly, Elevated hepatic transaminase, Failu... |
ORPHA:329178 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Camptodactyly, Renal cyst, Ventricular septal defect |
OMIM:614815 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Feeding difficulties, Poor appetite, Hepatomegaly, Reye syndrome-like episodes, Failure to thrive... |
ORPHA:927 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Recurrent respiratory infections, Feeding difficulties, Atelectasis, Respirat... |
OMIM:618278 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia, Renal hypoplasia |
ORPHA:85321 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Dyspnea, Increased DLCO, Restrictive ventilatory defect, Cough, Hypox... |
ORPHA:90060 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Dilatation of the cerebral artery, Retinal arteriolar tortuosity... |
OMIM:611773 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal atresia, High palate, Gastroesophageal reflux, Large for gestational age, Pulmonary hypoplas... |
OMIM:614080 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Nephropathy, Vascular dilatation, Focal segmental glomerulosc... |
OMIM:617056 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:614679 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, First degree atrioventricular block, Dysphagia, Respiratory distress, Atrial flu... |
OMIM:160900 |
| Pulmonary Capillary Hemangiomatosis |
|
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorr... |
ORPHA:199241 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Ketonuria, Patent foramen ovale, Di... |
OMIM:619167 |
| Zaki Syndrome |
|
Hydronephrosis, Renal agenesis, Patent foramen ovale, Congenital diaphragmatic hernia |
OMIM:619648 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neonatal respiratory distress, Camptodactyly of toe, Inguinal hernia, Camptodactyly, Arthrogrypos... |
OMIM:265000 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Feeding difficulties, Respiratory insufficiency, Weakness of facial musculature, Knee flexion con... |
OMIM:617239 |
| Perlman Syndrome |
|
