Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... |
OMIM:605376 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... |
OMIM:619702 |
Lipedema |
|
Edema |
OMIM:614103 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... |
OMIM:616749 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... |
OMIM:615415 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis |
OMIM:617577 |
Dextrocardia |
|
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... |
ORPHA:1666 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Senior-Boichis Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Reduced number of intrahepatic bile duct... |
ORPHA:84081 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... |
ORPHA:244 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... |
OMIM:613751 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba... |
OMIM:613159 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... |
OMIM:208540 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa... |
OMIM:613550 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,... |
OMIM:604387 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... |
ORPHA:3032 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, Reduced r... |
OMIM:208085 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Jau... |
OMIM:613404 |
Retinitis Pigmentosa 59 |
|
Failure to thrive, Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, ... |
OMIM:613861 |
Meacham Syndrome |
|
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... |
ORPHA:3097 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... |
OMIM:300555 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... |
OMIM:314390 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... |
OMIM:267010 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... |
OMIM:231060 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Elevated circulating glutaric aci... |
OMIM:231680 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Obesity, Renal insufficiency |
OMIM:615987 |
Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricula... |
OMIM:306955 |
Arima Syndrome |
|
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... |
OMIM:243910 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Growth delay, Ren... |
OMIM:606966 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Cleft palate, Heterota... |
ORPHA:3426 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Abdominal situs inversus |
OMIM:619607 |
Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... |
OMIM:615482 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Cleft palate, Splenomegaly, Hep... |
OMIM:614866 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Atrial r... |
OMIM:270100 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Congenital Tracheomalacia |
|
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Recurrent up... |
ORPHA:95430 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... |
OMIM:611555 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
Chilblain Lupus 2 |
|
Edema, Vasculitis |
OMIM:614415 |
Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... |
OMIM:615067 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Obesity |
OMIM:615993 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph... |
OMIM:602114 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Lambert Syndrome |
|
Intrauterine growth retardation, Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricu... |
ORPHA:1296 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Velocardiofacial Syndrome |
|
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... |
OMIM:192430 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis |
OMIM:611884 |
Galactosemia Ii |
|
Hypergalactosemia, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease |
OMIM:606995 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... |
ORPHA:75566 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomega... |
OMIM:230350 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
ORPHA:94086 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... |
OMIM:620010 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, ... |
OMIM:618250 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Cryptorchidism, Nephrocalcinosis |
OMIM:615633 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Growth delay, Hypophosphatemia, Renal tubular acidosis, Hepatomegaly, Elevated... |
ORPHA:2088 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr... |
ORPHA:890 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:614377 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections |
OMIM:106700 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Renal cyst, Hepatomegaly |
OMIM:614870 |
Granulomatous Slack Skin |
|
Erythema, Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Short stature, Hepatosplenomegaly, Distal renal tubular acidosis,... |
OMIM:611590 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... |
OMIM:222470 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Stea... |
ORPHA:79303 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne... |
OMIM:239199 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Prolonged neonatal jaundice |
OMIM:617370 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... |
OMIM:220210 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalc... |
OMIM:143880 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:618063 |
Mpdu1-Cdg |
|
Abnormal enzyme/coenzyme activity, Elevated circulating creatine kinase concentration, Renal cort... |
ORPHA:79323 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... |
ORPHA:2924 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... |
OMIM:614817 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Poly... |
OMIM:613807 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Urti... |
ORPHA:400 |
Hypoglossia With Situs Inversus |
|
High palate, Situs inversus totalis, Microglossia, Polysplenia, Asplenia |
OMIM:612776 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Atrial Fibrillation, Familial, 13 |
|
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis |
OMIM:615377 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... |
OMIM:616037 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Hyperalaninemia, Increased serum pyruvate, Renal cortical cysts |
OMIM:617668 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia |
OMIM:613686 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Growth delay, Weight loss, Jaundice |
ORPHA:79238 |
Scimitar Syndrome |
|
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... |
ORPHA:185 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, Abnormality of the kidne... |
ORPHA:85445 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:614679 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Abnormal tricuspid valve m... |
ORPHA:1759 |
Coach Syndrome 1 |
|
Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal agenesis, Spl... |
OMIM:216360 |
C Syndrome |
|
High palate, Failure to thrive, Renal cortical cysts, Hepatomegaly, Short stature, Ventricular se... |
OMIM:211750 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alph... |
OMIM:613095 |
Cog7-Cdg |
|
Failure to thrive, Hepatomegaly, Small for gestational age, Excessive wrinkled skin, Abnormality ... |
ORPHA:79333 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... |
ORPHA:2041 |
Lambert Syndrome |
|
Hypospadias, Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Stroke, Restricti... |
ORPHA:85451 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentr... |
OMIM:616026 |
Rhyns Syndrome |
|
Abnormality of the liver, Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin, Renal cyst, Elevated circulating alkaline ph... |
OMIM:174050 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst, Multinodular goiter |
OMIM:138790 |
Dysmyelination With Jaundice |
|
Hypoplasia of penis, Hydroureter, Hydronephrosis, Cryptorchidism, Jaundice |
OMIM:224250 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... |
OMIM:601612 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Primary hyperparathyroidism, Hype... |
ORPHA:99879 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Short stature, Congenital hepatic fibrosis, Stage 5 chr... |
ORPHA:3156 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst, Obesity, Cryptorchidism |
OMIM:615982 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Nephrocalcinosis, Elevated circulating alkaline phosphatase concent... |
OMIM:616833 |
Rotor Syndrome |
|
Jaundice, Hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Conjugated hyperbilirubinemia, B... |
ORPHA:3111 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Growth delay, Neph... |
OMIM:602722 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Nephrocalcinosis, Hypocalcemic seizures |
OMIM:146200 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Grow... |
ORPHA:445038 |
Harrod Syndrome |
|
High palate, Failure to thrive, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyl... |
OMIM:601095 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Hypertyrosinemia, Splenomegal... |
OMIM:276700 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... |
ORPHA:1686 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyp... |
OMIM:130650 |
Diabetic Embryopathy |
|
Cleft palate, Abnormality of the pancreas, Tetralogy of Fallot, Ventricular septal defect, Abnorm... |
ORPHA:1926 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Failure to thrive, Nephrocalcinosis, Atrial septal defect |
ORPHA:500533 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Nephrocalcinosis, Atrial septal defect |
OMIM:611087 |
Coach Syndrome 3 |
|
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... |
OMIM:619113 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Failure to thrive, Hepatomegaly, Aminoaciduria, High, narrow palate, Macroglossia, E... |
OMIM:214100 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Failure to thrive, Renal cortical cysts, Supernumerary nipple, Rhizomelic leg shortening, Short s... |
ORPHA:397715 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Anterior hypopituitarism, Dextrocardia, Patent ductus arteriosus, Cryp... |
ORPHA:2863 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis |
OMIM:606763 |
Polyvalvular Heart Disease Syndrome |
|
High palate, Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitra... |
ORPHA:228410 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... |
OMIM:615862 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia, Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
Fetal Trimethadione Syndrome |
|
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... |
ORPHA:1913 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Short stature, Neonatal death, Renal cyst, Hydronephrosis, Cryptorchidism, Rectal a... |
OMIM:613390 |
Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... |
OMIM:615444 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Restrictive cardiomyopathy, Ureteral stenosis, Hypercalciuria, Large for gestational... |
OMIM:615398 |
3C Syndrome |
|
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... |
ORPHA:7 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Emanuel Syndrome |
|
High palate, Anal atresia, Aortic valve stenosis, Atrial septal defect, Cleft palate, Gastroesoph... |
OMIM:609029 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Pyloric stenosi... |
ORPHA:363705 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... |
OMIM:601186 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... |
ORPHA:446 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Cleft palate, Micropenis, Penile hypospadias, Hepatic agenesis, Renal cyst,... |
ORPHA:1692 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Stillbirth, Disproportionate short-limb short stature, Elevated plasma pyropho... |
OMIM:241500 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... |
ORPHA:3400 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... |
ORPHA:1909 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Small for gestat... |
OMIM:260400 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Abnormal pulmonary inter... |
OMIM:230800 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentration, Elevated circula... |
OMIM:619386 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism |
OMIM:613730 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen |
ORPHA:89844 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:619868 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect |
OMIM:618496 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Hypospadias, Elevated hepatic tra... |
OMIM:301045 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
Parathyroid Carcinoma |
|
Nephrolithiasis, Abnormality of the parathyroid morphology, Hypophosphatemia, Pancreatitis, Parat... |
ORPHA:143 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Hypoplastic left heart |
ORPHA:3316 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... |
ORPHA:2306 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarge... |
OMIM:608836 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... |
ORPHA:1727 |
Mcdonough Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Furrow... |
OMIM:248950 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Duodenal atresia, Primum atrial septal defect, Intestinal ... |
OMIM:619608 |
Jeune Syndrome |
|
Nephronophthisis, Short stature, Nephropathy, Renal insufficiency, Abnormality of the liver |
ORPHA:474 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611498 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Aplasia/Hypoplasia of the pancreas, Renal agenesis, Hypospadias, Abnormality of endocrine pancrea... |
ORPHA:93111 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Small for gestational age, Abnorm... |
ORPHA:275555 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hemat... |
OMIM:610205 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... |
ORPHA:79259 |
Galactosemia |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhosis, I... |
ORPHA:352 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypophosphatemia, Severe short stature, Elevated circulating alkaline phospha... |
OMIM:156400 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:300991 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatom... |
ORPHA:1667 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... |
ORPHA:731 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Renal cyst, Villous atr... |
OMIM:602579 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Cleft palate |
OMIM:221950 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Aminoaciduria, Cleft palate, El... |
OMIM:214110 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... |
OMIM:618316 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:616307 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... |
OMIM:600001 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Failure to thrive, Atrial septal defect, Intestinal atres... |
ORPHA:2970 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... |
OMIM:300554 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... |
OMIM:145001 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... |
OMIM:601927 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Intrauterine growth retardation, Hypokalemia, Short stature, Left ventricular ... |
ORPHA:320 |
Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis |
OMIM:616298 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Stage 5 c... |
OMIM:616629 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Failure to thrive, Renal tubular ... |
OMIM:248250 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Abnormality of the parathyroid morphology, Hypophosphatemia, Pancreatitis, Parat... |
ORPHA:99880 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice |
ORPHA:60 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Nephrocalcinosis, Hypercalcemia, Short stature |
ORPHA:557003 |
Meckel Syndrome, Type 10 |
|
Cleft palate, Micropenis, Hypospadias, Anencephaly, Malformation of the hepatic ductal plate, Bif... |
OMIM:614175 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Decreased liver function, Abnormal pericardium morphology, Abn... |
ORPHA:284 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Short stature, Nephropathy, Focal segmental glomerulosclerosis, Renal cys... |
OMIM:617056 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Short stature, Polycystic liver disease, Pancreatic fibrosis, ... |
OMIM:208500 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... |
OMIM:610188 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Transposition of the great arteries, Cryptorchidism, Patent foramen ovale, Macroglossia |
OMIM:616789 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Short stature,... |
OMIM:613312 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... |
ORPHA:1414 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proxi... |
OMIM:146255 |
Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy |
ORPHA:3033 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Cleft palate, Short stature, Multiple renal cysts, Tetralogy of Fallot,... |
ORPHA:1166 |
Babesiosis |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Renal insufficiency, Jaundice |
ORPHA:108 |
Hydroxykynureninuria |
|
Jaundice, Aminoaciduria |
OMIM:236800 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Anterior pi... |
ORPHA:2255 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis, Hepatic failure |
OMIM:614845 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
Arterial Tortuosity Syndrome |
|
High palate, Telangiectases of the cheeks, Aortic valve stenosis, Hiatus hernia, Generalized arte... |
OMIM:208050 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Atrial septal defect, Gastroesophageal reflux, Stroke, Arrhythmia, Ventricu... |
OMIM:249270 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Short stature, Hepatic fail... |
OMIM:615630 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... |
ORPHA:980 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Hepatic failure, Reduced number of intrahepatic bile ducts, Ch... |
OMIM:118450 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... |
ORPHA:567544 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Failure to thrive, Jaundice |
OMIM:129850 |
Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation |
ORPHA:3449 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... |
OMIM:301068 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Macroorchidism, Mitral regurgitation, Mitral valv... |
ORPHA:324410 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... |
ORPHA:54370 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Decreased liver function, Multiple renal cysts, Elevated hepatic transaminase,... |
OMIM:614883 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Subcutaneous calcification, Hypercalciuria |
OMIM:617993 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Cryptorchidism, Atrioven... |
ORPHA:251071 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis |
OMIM:608644 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Cardiofacioneurodevelopmental Syndrome |
|
Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventric... |
OMIM:619123 |
Emanuel Syndrome |
|
High palate, Anal atresia, Ectopic anus, Aortic valve stenosis, Atrial septal defect, Cleft palat... |
ORPHA:96170 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Growth delay, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Hyperph... |
ORPHA:157215 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... |
OMIM:137920 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... |
OMIM:614876 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... |
ORPHA:93598 |
Primary Hyperoxaluria |
|
Failure to thrive, Chronic kidney disease, Acrocyanosis, Calcium oxalate nephrolithiasis, Cutis m... |
ORPHA:416 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Renal cyst, Meningoce... |
OMIM:611134 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... |
ORPHA:480520 |
Lessel-Kubisch Syndrome |
|
Premature graying of hair, Renal hypoplasia, Renal insufficiency, Short stature |
OMIM:618681 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Weill-Marchesani Syndrome 3 |
|
Pulmonic stenosis, Aortic valve stenosis |
OMIM:614819 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Gastroesophageal reflux, Atrial septal defect, Hepatomegaly |
OMIM:619881 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Zellweger Syndrome |
|
High palate, Failure to thrive, Malabsorption, Hepatomegaly, Short stature, Hepatic failure, Hypo... |
ORPHA:912 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Atrophic gastritis, ... |
OMIM:240300 |
Nail-Patella-Like Renal Disease |
|
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:2613 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticom... |
OMIM:616733 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... |
ORPHA:79301 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Atrial septal defect, High, narrow palate, Congenital megaureter, Restrictive... |
ORPHA:369837 |
Mody |
|
Intrauterine growth retardation, Exocrine pancreatic insufficiency, Abnormal C-peptide level, Abn... |
ORPHA:552 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Renal insufficiency, Displacemen... |
ORPHA:2377 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... |
ORPHA:2326 |
Cardiac-Urogenital Syndrome |
|
Ventricular septal defect, Pulmonary hypoplasia, Tachycardia, Hepatopulmonary fusion, Unilateral ... |
OMIM:618280 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormali... |
ORPHA:234 |
Joubert Syndrome 4 |
|
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
Pseudo-Torch Syndrome 1 |
|
High palate, Failure to thrive, Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, ... |
OMIM:251290 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Tr... |
ORPHA:1505 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... |
ORPHA:3093 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Elevated circulating creatini... |
OMIM:274150 |
Meckel Syndrome, Type 2 |
|
Cleft palate, Intestinal malrotation, Anencephaly, Renal cyst, Meningocele, Bile duct proliferati... |
OMIM:603194 |
Catel-Manzke Syndrome |
|
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... |
OMIM:616145 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Short stature, Macroscopic hematuria, Membranoproliferative glomer... |
ORPHA:251004 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... |
ORPHA:3304 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
High palate, Failure to thrive, Intrauterine growth retardation, Abnormal cardiac septum morpholo... |
OMIM:618005 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Renal cyst, Stillbirth |
OMIM:263630 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Elevated circulating creatine kinase concentration, Anencephaly, Renal dysplasia, Ren... |
OMIM:615287 |
Intellectual Disability-Strabismus Syndrome |
|
High palate, Failure to thrive, Atrial septal defect, Decreased response to growth hormone stimul... |
ORPHA:363528 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis |
OMIM:620032 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia, Renal insufficiency,... |
ORPHA:79312 |
Campomelia, Cumming Type |
|
Short stature, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat... |
OMIM:607361 |
Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency, Glomer... |
ORPHA:225 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Choles... |
ORPHA:172 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Cholangiocarcinoma |
|
Acholic stools, Biliary tract neoplasm, Jaundice |
ORPHA:70567 |
Mend Syndrome |
|
High palate, Cryptorchidism, Aortic valve stenosis |
OMIM:300960 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... |
OMIM:617156 |
Primary Pulmonary Hypoplasia |
|
Secundum atrial septal defect, Cleft palate, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Ab... |
ORPHA:2257 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pulmonic stenosis, Transposition of the great arteries, Paroxysmal supraventricular ... |
OMIM:617877 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Familial Mediterranean Fever |
|
Malabsorption, Nephrotic syndrome, Pancreatitis, Orchitis, Splenomegaly, Acute hepatic failure, P... |
ORPHA:342 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... |
OMIM:179613 |
Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... |
OMIM:200995 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... |
ORPHA:79234 |
Rabson-Mendenhall Syndrome |
|
High palate, Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Hypokalemia, A... |
ORPHA:769 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Vascular ring |
OMIM:603387 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis, Encephalocele |
OMIM:614465 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly... |
OMIM:236500 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Meckel Syndrome, Type 5 |
|
Cleft palate, Anencephaly, Renal cyst, Bile duct proliferation, Occipital encephalocele |
OMIM:611561 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... |
ORPHA:96147 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... |
OMIM:256300 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,... |
OMIM:219800 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Isolated Biliary Atresia |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Fat malabsorp... |
ORPHA:30391 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Growth delay, Hypokalemia, Aminoaciduria, Decreased glomerula... |
ORPHA:18 |
Diaphanospondylodysostosis |
|
Cleft palate, Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidne... |
OMIM:608022 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... |
OMIM:619910 |
Colonic Atresia |
|
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... |
ORPHA:1198 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... |
ORPHA:363618 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperprostaglandinuria, Failure to thrive, Hypomagnesemia, Hypokalemia, Increased urinary potassi... |
OMIM:601678 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency |
OMIM:613779 |
Trisomy 8P |
|
Annular pancreas, Cleft palate, Micropenis, Malrotation of small bowel, Bifid uvula, Tetralogy of... |
ORPHA:264450 |
Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycyst... |
OMIM:608776 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... |
OMIM:618176 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis |
OMIM:615451 |
Carpenter Syndrome 1 |
|
High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal def... |
OMIM:201000 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency, Abnormality of the liver |
OMIM:240150 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:449395 |
Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Horseshoe kidney, Um... |
OMIM:115470 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macroglossia, A... |
OMIM:617303 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Microvillus Inclusion Disease |
|
Villous atrophy, Nephrocalcinosis, Abnormality of small intestinal villus morphology, Abnormal re... |
ORPHA:2290 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Hypochromic anemia, Pulmonic stenosis, Mitral re... |
ORPHA:99147 |
Familial Tumoral Calcinosis |
|
Erythema, Nephrocalcinosis, Hepatomegaly, Splenomegaly |
ORPHA:53715 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot |
OMIM:615542 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
High palate, Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Stage 3 chronic kidney d... |
OMIM:619743 |
Gaisböck Syndrome |
|
Hyperproteinemia, Plethora, Increased circulating renin level, Cholecystitis, Hypernatriuria, Hyp... |
ORPHA:90041 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Glossoptosis, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cys... |
ORPHA:2031 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Renal cyst, Polycy... |
OMIM:610199 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Prolonged neonatal jaundice |
OMIM:262400 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
Mosaic Trisomy 9 |
|
High palate, Atrial septal defect, Cleft palate, Abnormal liver lobulation, Intestinal malrotatio... |
ORPHA:99776 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein conc... |
OMIM:619644 |
Verheij Syndrome |
|
Abnormal cardiac septum morphology, Short stature, Renal agenesis, Renal cyst, Renal hypoplasia, ... |
OMIM:615583 |
Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus, Cleft palate |
OMIM:147770 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... |
ORPHA:228308 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Intrauterine growth retardation, Decreased liver function, Hepatomegaly, Splen... |
OMIM:608779 |
Johanson-Blizzard Syndrome |
|
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Anal atresia, Malabsorptio... |
ORPHA:2315 |
Galactosemia Iv |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Jaundice, Aminoaciduria |
ORPHA:33574 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Failure to thrive, Secundum atrial septal defect, Unilateral renal age... |
OMIM:156810 |
Oligomeganephronia |
|
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Small... |
ORPHA:2260 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Splenomegaly, Growth delay, Nephrocalcinosis, Cardiomyopathy |
OMIM:616084 |
Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Malabsorption, Hypokalemia, Growth delay, Aminoaciduria, Mild... |
ORPHA:47159 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Cleft palate, Micropenis, Multicystic kidney dysplasia, Obesity |
OMIM:300209 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Hyperammonemia, Renal insufficiency, Growt... |
ORPHA:289916 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Hypoplastic left heart, Short stature, Unilateral renal agenesis, Rhizome... |
OMIM:617661 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... |
ORPHA:85450 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Weight loss, Int... |
OMIM:619487 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Hypospadias, Left ventricular hypertrophy, Rhizomelia, Renal insuffici... |
OMIM:611209 |
Kaposiform Lymphangiomatosis |
|
Bruising susceptibility, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple r... |
ORPHA:464329 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts, Elevated circulating alkaline phosphatase concentration |
OMIM:618548 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Gast... |
OMIM:193400 |
Renal Hypoplasia |
|
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... |
ORPHA:93101 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... |
OMIM:618892 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice |
OMIM:232800 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Acrorenal Syndrome |
|
Cleft palate, Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Thoracoabdominal Syndrome |
|
Cleft palate, Ectopia cordis, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of th... |
OMIM:313850 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Morphologi... |
ORPHA:2847 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hepatic ... |
ORPHA:73224 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... |
OMIM:248190 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia, Cleft palate, Short stature |
OMIM:181180 |
46,Xy Sex Reversal 4 |
|
High palate, Anal atresia, Increased blood urea nitrogen, Cleft palate, Renal dysplasia, Ureterop... |
OMIM:154230 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Chronic kidney disease, Impaired renal concentrating ability, Failure to ... |
ORPHA:89938 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating alkaline phospha... |
OMIM:619534 |
17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Ureterocele, Short stature, Multicystic kidney dysplasia, Pancreatic ap... |
ORPHA:261265 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... |
OMIM:601808 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Campomelia, Cumming Type |
|
Prematurely aged appearance, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Multiple r... |
ORPHA:1318 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Hepatomegaly, Patent ductus arteriosus, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, St... |
ORPHA:2869 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:157 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
OMIM:261560 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, ... |
ORPHA:231111 |
Baraitser-Winter Syndrome 1 |
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Patent ductus arteriosus, Bicuspid aortic valve, Aortic valve stenosis, Cryptorchidism |
OMIM:243310 |
Renal Dysplasia |
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Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior ureth |