Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Lipedema |
|
Edema |
OMIM:614103 |
Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... |
ORPHA:1330 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of the sp... |
ORPHA:1666 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis |
OMIM:617577 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Intestin... |
ORPHA:244 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... |
OMIM:619657 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronch... |
OMIM:618254 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Atrial septal defect, Small for gestational ... |
OMIM:208085 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposition of the grea... |
OMIM:314390 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa... |
OMIM:613404 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Dent Disease 2 |
|
Increased circulating lactate dehydrogenase concentration, Short stature, Elevated circulating cr... |
OMIM:300555 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Asplenia, Dextrotransposition of the great arteries, Atrial septal de... |
OMIM:270100 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... |
OMIM:267010 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Arima Syndrome |
|
Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kid... |
OMIM:243910 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cle... |
ORPHA:3426 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:95430 |
Lambert Syndrome |
|
Hypospadias, Failure to thrive in infancy, Ventricular septal defect, Jaundice, Cholestasis, Bran... |
ORPHA:1296 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... |
OMIM:192430 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a... |
OMIM:230350 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Short s... |
OMIM:620010 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O... |
OMIM:615993 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Galactosemia Ii |
|
Galactosuria, Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:230200 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... |
ORPHA:890 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... |
OMIM:219730 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Short... |
OMIM:222470 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Patent ductus ... |
ORPHA:99050 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism, Obesity |
OMIM:615633 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Renal cyst, Abnormal intrahepatic bile duct ... |
ORPHA:79303 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Elevated circulating as... |
ORPHA:2088 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Cleft palate, Double aortic arch, Vascular ring |
OMIM:616954 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai... |
OMIM:239199 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Erythema, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Mpdu1-Cdg |
|
Abnormal circulating enzyme concentration or activity, Decreased response to growth hormone stimu... |
ORPHA:79323 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Short stature, Hepatosplenomegaly, Nephrocalcinosis, Hypokalemia, Distal renal tubul... |
OMIM:611590 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the t... |
ORPHA:400 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Double outlet r... |
OMIM:220210 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia |
OMIM:612776 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, High palate, Elevated gamma-glutamyltransferase level,... |
OMIM:614866 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Abnormal tricuspid valve m... |
ORPHA:1759 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias |
OMIM:245550 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Renal cyst, In... |
OMIM:174050 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:211750 |
Coach Syndrome 1 |
|
Encephalocele, Hepatomegaly, Occipital encephalocele, Elevated hepatic transaminase, Unilateral r... |
OMIM:216360 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol... |
ORPHA:85445 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... |
ORPHA:85451 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Short ... |
OMIM:616026 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Senior-Loken Syndrome |
|
Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas... |
ORPHA:3156 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left ventricular hyper... |
OMIM:616833 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Abnormality of the kidney, Renal cyst, Obesity |
OMIM:615982 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... |
OMIM:130650 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Renal insufficiency, Hypospadias, Short s... |
ORPHA:397715 |
Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Cleft palate, Abnormal ao... |
ORPHA:1926 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Atrial septal defect, Failure to thrive |
ORPHA:500533 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,... |
ORPHA:445038 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Protruding... |
OMIM:214100 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal tubular acidosis, Failu... |
OMIM:602722 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, High palate, Pul... |
ORPHA:228410 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Renal cortical cysts |
OMIM:609180 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine... |
ORPHA:94086 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Atrial septal defect, Slender build |
OMIM:611087 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Cutaneous photosensitivi... |
OMIM:121300 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Renal cyst, Horseshoe kidney, Cleft palate, L... |
OMIM:614815 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... |
ORPHA:446 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Cryptorchidism, Patent ductus arteriosus, High palate, Anterior hypopituitarism, An... |
ORPHA:2863 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Abnorm... |
OMIM:613390 |
3C Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... |
ORPHA:7 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Cleft palate, Polycystic kidney dys... |
OMIM:613885 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... |
ORPHA:363705 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Dysphagia, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic ... |
OMIM:230900 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Cleft palate, Micr... |
ORPHA:1692 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers... |
OMIM:615862 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pu... |
OMIM:230800 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Low a... |
OMIM:241500 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Cryptorchidis... |
OMIM:601186 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... |
ORPHA:2306 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine gr... |
OMIM:613861 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Shor... |
OMIM:260400 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Intestinal malrotat... |
OMIM:618316 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo... |
OMIM:620152 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic r... |
OMIM:613730 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:143 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur... |
OMIM:615398 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,... |
ORPHA:275555 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami... |
ORPHA:1667 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... |
OMIM:600001 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema |
OMIM:152900 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Intestinal malro... |
OMIM:609029 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Spl... |
OMIM:232220 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... |
OMIM:601927 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity, Nephronophthisis |
OMIM:614845 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... |
OMIM:608836 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Abnormal h... |
OMIM:214110 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Left ventricular hypertrophy, Short stature, Abnormal urine sodium concentra... |
ORPHA:320 |
Jeune Syndrome |
|
Renal insufficiency, Short stature, Abnormality of the liver, Nephronophthisis, Nephropathy |
ORPHA:474 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617056 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr... |
ORPHA:79259 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, He... |
OMIM:602579 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Prune Belly Syndrome |
|
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent u... |
ORPHA:2970 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Cleft palate |
OMIM:617616 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Severe short stature, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:156400 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c... |
OMIM:145001 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Delayed ... |
OMIM:232200 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... |
OMIM:300554 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... |
OMIM:613686 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Short stature, C... |
OMIM:208500 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:99880 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancreatic cyst... |
ORPHA:284 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... |
OMIM:616629 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Short stature, Hypocalcemia |
ORPHA:557003 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate,... |
ORPHA:1166 |
Edinburgh Malformation Syndrome |
|
Jaundice, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Patent foramen ovale, Transposition of the great arteries, Cryptorchidism |
OMIM:616789 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Chronic kidney disease, Obe... |
OMIM:615630 |
Babesiosis |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Hepatic failure |
ORPHA:108 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... |
OMIM:617478 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Short stature, Elevated circulating alkaline phosphatase concentration, Pulmon... |
OMIM:613312 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Renal hypoplas... |
OMIM:118450 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thicken... |
OMIM:146255 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema |
OMIM:189800 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Renal cyst, Multiple renal cysts, Decreased liver function, Failur... |
OMIM:614883 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Pfeiffer-Palm-Teller Syndrome |
|
Aortic valve stenosis |
ORPHA:2871 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... |
OMIM:614859 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... |
OMIM:249270 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Cleft palate, Bil... |
OMIM:611134 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Short stature... |
ORPHA:912 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Patent ... |
OMIM:251290 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin... |
OMIM:137920 |
Verheij Syndrome |
|
Branchial cyst, Small for gestational age, Renal agenesis, Ventricular septal defect, Short statu... |
OMIM:615583 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Protruding tongue, Cardiomegaly, Congestive heart failur... |
ORPHA:324410 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Cryptorchid... |
ORPHA:2377 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary sinus enlargement,... |
OMIM:618280 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:614876 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Hypospadias, Malformation of the hepatic ductal plate, Anencephaly, Rena... |
OMIM:614175 |
Lessel-Kubisch Syndrome |
|
Premature graying of hair, Renal insufficiency, Short stature, Renal hypoplasia |
OMIM:618681 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux, Hepatomegaly |
OMIM:619881 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy,... |
ORPHA:251071 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Cardiomyopathy, Failure to thriv... |
ORPHA:79312 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Pulm... |
OMIM:619123 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:617872 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephroli... |
ORPHA:416 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria |
ORPHA:2613 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract... |
ORPHA:79301 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, ... |
ORPHA:96170 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Patent ductus arter... |
ORPHA:369837 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification |
OMIM:617993 |
Dietary Iron Overload Disease |
|
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Congestive heart failure, Micronodular cirrhosi... |
ORPHA:139507 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Short stature, Elevated alkaline phosphatase of bone origin, Increased circula... |
ORPHA:157215 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft palate, Bile d... |
OMIM:603194 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... |
OMIM:616733 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Dilated c... |
ORPHA:2326 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephro... |
OMIM:240300 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Glycogen Storage Disease Vii |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:232800 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Fa... |
ORPHA:172 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morp... |
ORPHA:234 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Cryptorch... |
ORPHA:97362 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Patent ductus arteriosus, Nephrocalcinosis, High palate, Atrial septal defect, Int... |
OMIM:618005 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ... |
OMIM:607361 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Hypertrophic cardiomyopathy, Abn... |
ORPHA:225 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis |
OMIM:614819 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... |
OMIM:300845 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Short stature, Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Hypospadias, Decreased response to growth hormone stimulation test, Short stat... |
ORPHA:363528 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc... |
ORPHA:251004 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atria... |
ORPHA:3304 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hepatomegaly, Elevated c... |
ORPHA:30391 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... |
ORPHA:2257 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Nephronophthisis |
OMIM:614465 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Lesch-Nyhan Syndrome |
|
Short stature, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy |
OMIM:300322 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... |
OMIM:615008 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta... |
ORPHA:96147 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:179613 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Renal cyst, Bile duct proliferation |
OMIM:611561 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis... |
ORPHA:342 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... |
OMIM:617877 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
Gaisböck Syndrome |
|
Plethora, Hypertriglyceridemia, Peptic ulcer, Overweight, Splenomegaly, Obesity, Nephrocalcinosis... |
ORPHA:90041 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, High palate, Transposition o... |
OMIM:201000 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc... |
OMIM:608776 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis |
OMIM:615451 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Cat Eye Syndrome |
|
Biliary atresia, Atrial septal defect, Vesicoureteral reflux, Short stature, Patent ductus arteri... |
OMIM:115470 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Axial Osteomalacia |
|
Polycystic liver disease, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Short stature, ... |
ORPHA:261265 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Hiatus hernia, Pulmonar... |
OMIM:208050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay, Pancr... |
ORPHA:289916 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... |
ORPHA:18 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... |
OMIM:608022 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Meningocele, Renal cyst... |
ORPHA:2031 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septal defect, Short stature, ... |
ORPHA:769 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Malrotation of small bow... |
ORPHA:264450 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration, Renal cortical cysts |
OMIM:618548 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,... |
OMIM:601678 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Hypokal... |
OMIM:617913 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ... |
ORPHA:228308 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Galactosemia Iv |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anemia, Abnorma... |
ORPHA:2315 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Cleft palate, Pulmonary hypoplasia, Transposition of the great arteries... |
OMIM:313850 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,... |
ORPHA:99776 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio... |
OMIM:618892 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Hepatomegaly, Erythema, Splenomegaly |
ORPHA:53715 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... |
ORPHA:2290 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Prolonged neonatal jaundice |
OMIM:262400 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... |
OMIM:610199 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal age... |
ORPHA:2260 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di... |
OMIM:617661 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease, Dermatological manifestations of systemic disorders |
ORPHA:79147 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Nephrotic syndrome, Focal segm... |
OMIM:617303 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ne... |
ORPHA:85450 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Nephrocalcinosis, Growth delay, Aminoaciduria, Cardiomyopathy |
OMIM:616084 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentrati... |
OMIM:608779 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Bicarbonaturi... |
ORPHA:47159 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Intestinal obstruction, Enlarged polycystic ovaries, Biliary tract neo... |
ORPHA:2869 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertensi... |
OMIM:619487 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal spleen morphol... |
ORPHA:464329 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Cleft palate, Hydronephrosis, High palate, Increas... |
OMIM:154230 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... |
ORPHA:2847 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A... |
OMIM:193400 |
Say Syndrome |
|
Short stature, Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Decr... |
OMIM:601808 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Nephrotic syndrome, Ca... |
ORPHA:79327 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Prematurely aged appearance, Pancreatic cysts, Abnorm... |
ORPHA:1318 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ... |
ORPHA:73224 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tr... |
ORPHA:1834 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia, Hep... |
OMIM:173900 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Joubert Syndrome 7 |
|
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... |
ORPHA:549 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Ren... |
OMIM:236500 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:971 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Ververi-Brady Syndrome |
|
High palate, Transposition of the great arteries |
OMIM:617982 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arteriosus |
ORPHA:2123 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis |
ORPHA:3327 |
Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Patent ductus arteriosus, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:243310 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Renpenning Syndrome |
|
Severe short stature, Hypospadias, Cachexia, High, narrow palate, Cleft palate, Growth delay, Het... |
ORPHA:3242 |
Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency, Pericardial effusion |
OMIM:256150 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy |
ORPHA:254857 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Mirage Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Esophageal stricture, Thrombocytopenia, Hypoplastic spl... |
OMIM:617053 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Telangiectasia of the skin, Mitral valve prolapse, Nephrocalcino... |
ORPHA:758 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Obesity, Nephro... |
ORPHA:110 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Anencephaly, Renal cyst, Horseshoe kidney, Cleft pal... |
OMIM:612284 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Proportionate short ... |
ORPHA:488618 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Abnormal stomach morphology, Crypt... |
ORPHA:281090 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation... |
ORPHA:508 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... |
OMIM:277380 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... |
ORPHA:79284 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Petechiae, Increased circulati... |
ORPHA:540 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... |
ORPHA:858 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... |
OMIM:619534 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly |
OMIM:312500 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Progeroid facial a... |
ORPHA:90321 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cryptorchidism, Aortic valve stenosis, Testicular torsion, Pulmonic stenosis |
ORPHA:75496 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Grade ... |
OMIM:619377 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gall... |
ORPHA:171 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Pulmonary insufficiency, Bronchiectasis |
OMIM:614017 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Trisomy 17P |
|
Patent ductus arteriosus, Cleft palate, Macroglossia, High palate, Hypoplastic left heart, Aortic... |
ORPHA:261290 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615505 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Cardiomyopathy, Pancreatitis |
ORPHA:27 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:615481 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... |
ORPHA:1600 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen... |
ORPHA:79320 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... |
ORPHA:449400 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal fistula, Transposition of the ... |
ORPHA:1780 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ... |
ORPHA:90308 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Marden-Walker Syndrome |
|
Dextrocardia, High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate, Zollinger-Elli... |
OMIM:248700 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Cryptorchidism, Coarctation of aorta... |
OMIM:618929 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... |
OMIM:223900 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect,... |
OMIM:617660 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... |
OMIM:301006 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Cryptorchidism, Megarectu... |
OMIM:301056 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, E... |
OMIM:614376 |
Joubert Syndrome 15 |
|
Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... |
ORPHA:477817 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... |
ORPHA:2516 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... |
OMIM:614455 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Malabsorption, Renal tubula... |
ORPHA:213 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cr... |
ORPHA:52 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Abdom... |
OMIM:618699 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Recurrent upper respiratory tract infections, Mitral regurgitation, Intimal thicken... |
OMIM:253010 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... |
OMIM:259900 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Vesicoureteral reflux, Prolonged neonatal jaundice |
OMIM:618828 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Pyloric sten... |
ORPHA:2308 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Rhyns Syndrome |
|
Renal insufficiency, Short stature, Decreased response to growth hormone stimulation test, Chroni... |
OMIM:602152 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis |
OMIM:612444 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Chronic kidney disease, Hepatic amyloidosis, Renal amyloidosis, Abnormal ... |
ORPHA:314652 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Decreased seru... |
ORPHA:54057 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do... |
OMIM:614886 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Cleft palate |
ORPHA:459061 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like ... |
OMIM:185070 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, O... |
ORPHA:1454 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... |
OMIM:170100 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function |
OMIM:600666 |
Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Patent f... |
ORPHA:96149 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Cutis marmorata,... |
ORPHA:91138 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Mastocytosis, Cutaneous |
|
Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Cardiomegaly, Hepatoblastoma, Vesicoureteral ref... |
ORPHA:116 |
Sepsis In Premature Infants |
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Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Nephrotic syndrome, Renal insufficiency, Cardiomyopathy |
OMIM:105120 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Proteinuria, Pericard... |
OMIM:212065 |
Aortic Aneurysm, Familial Thoracic 9 |
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Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aortic dissection, Aortic... |
OMIM:616166 |
Nephrotic Syndrome, Type 11 |
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Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Hypospadias, Short stature, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, Hepatic fibr... |
OMIM:614091 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia |
ORPHA:2668 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Prolonged neonatal jaundice |
OMIM:618512 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Al Amyloidosis |
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Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver, Hypoalbumine... |
ORPHA:85443 |
Rhabdomyolysis, Susceptibility To, 1 |
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Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
Castleman Disease |
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Renal insufficiency, Intestinal obstruction, Elevated circulating C-reactive protein concentratio... |
ORPHA:160 |
Perlman Syndrome |
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Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Abnormal pancreas morphol... |
ORPHA:2849 |
Chromosome 15Q25 Deletion Syndrome |
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Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coronar... |
OMIM:614294 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho... |
ORPHA:75234 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Ciliary Dyskinesia, Primary, 10 |
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Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Czeizel-Losonci Syndrome |
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Dextrocardia, Tracheoesophageal fistula, High palate, Hypoplastic nipples, Pulmonary hypoplasia |
ORPHA:2437 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Craniosynostosis 1 |
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Aortic valve stenosis, Systolic heart murmur |
OMIM:123100 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
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Chronic kidney disease, High palate, Glomerulonephritis |
ORPHA:2172 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Proximal 16P11.2 Microdeletion Syndrome |
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Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... |
ORPHA:261197 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline ... |
ORPHA:521219 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine, Jaundice |
OMIM:301015 |
Cardiac Septal Defects With Coarctation Of The Aorta |
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Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary artery stenosis... |
OMIM:100300 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615500 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, ... |
OMIM:619991 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Familial Mediterranean Fever, Autosomal Dominant |
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Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Systemic Capillary Leak Syndrome |
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Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren... |
ORPHA:188 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... |
OMIM:618719 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic ... |
ORPHA:469 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Intestinal malrotation, Unilateral renal ag... |
OMIM:113650 |
Cirrhosis, Familial |
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Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Cleft palate, Coarctation of aorta, Aortic valv... |
ORPHA:2780 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Umbilical hernia, Jaundice, Short stature |
ORPHA:2349 |
Femoral-Facial Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kid... |
ORPHA:1988 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Biliary tr... |
OMIM:175200 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Cardiomyopathy, Familial Hypertrophic, 1 |
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Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Hyperparathyroidism, Transient Neonatal |
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Hyperparathyroidism, Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Elevated ... |
OMIM:618188 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Small for gestational age, Short stature, Celiac disease, Cryptorchi... |
ORPHA:2044 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different... |
OMIM:618541 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
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Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Recurrent p... |
ORPHA:397 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Telangiectasia of the skin, Cryptorchidi... |
ORPHA:85321 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... |
OMIM:253800 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno... |
OMIM:614185 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Atelosteogenesis Type I |
|
Rhizomelia, Malrotation of colon, Cleft palate, Neonatal short-trunk short stature, Multiple rena... |
ORPHA:1190 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Acquired Ichthyosis |
|
Renal insufficiency, Erythema |
ORPHA:454 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Short stature, Bilateral crypto... |
OMIM:617402 |
Thyroid Hemiagenesis |
|
Growth delay, Umbilical hernia, Jaundice, Macroglossia |
ORPHA:95719 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... |
ORPHA:33276 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia ... |
ORPHA:96092 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:612650 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Agang... |
ORPHA:2473 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Ventricular septal defect, Small for gestational age, Abnormal medullar... |
ORPHA:79243 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil... |
OMIM:211600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Bilateral cleft lip and palate, High ... |
OMIM:618829 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Increased blood urea nitrogen, High palate, Hypomagn... |
OMIM:223360 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:616481 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate, Intrauterine growth retar... |
ORPHA:2115 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Aganglionic megacolon, Chronic kidney dis... |
ORPHA:261222 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ... |
OMIM:611881 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ... |
ORPHA:2470 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circula... |
ORPHA:330001 |
Noonan Syndrome 12 |
|
Lymphopenia, Ventricular septal defect, Decreased response to growth hormone stimulation test, An... |
OMIM:618624 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... |
OMIM:264480 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Supernumerary nippl... |
ORPHA:261494 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Gro... |
OMIM:619980 |
3-Methylglutaconic Aciduria, Type Iv |
|
Biventricular hypertrophy, Cryptorchidism, Subvalvular aortic stenosis |
OMIM:250951 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Hypourice... |
ORPHA:3467 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:280000 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ... |
OMIM:612946 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ... |
ORPHA:324525 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... |
OMIM:190685 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... |
OMIM:602347 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Premature graying of hair, Atrial septa... |
OMIM:194050 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi... |
ORPHA:347 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Dilatation of the... |
ORPHA:314588 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Short stature, Minimal chang... |
OMIM:618348 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Dilated car... |
ORPHA:20 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Short stature, Cleft hard palate, Patent ductus arteriosus, Submucous cleft hard palate, Hypercal... |
OMIM:300990 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, High, narrow palate, Abnorma... |
ORPHA:3378 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... |
OMIM:601346 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Coarctation of aorta, M... |
ORPHA:371428 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
H Syndrome |
|
Hypertriglyceridemia, Short stature, Abnormality of the kidney, Malabsorption, Hepatosplenomegaly... |
ORPHA:168569 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... |
OMIM:608647 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Renal cyst, Hepatic fibrosis, High palate, Nephronophthisis, B... |
OMIM:266920 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Mucopolysaccharidosis, Type X |
|
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit... |
OMIM:619698 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short stature, Ventricular septal defect, Cryptorchidism, Renal cyst, Horseshoe kidney, Intrauter... |
ORPHA:166035 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal... |
ORPHA:440713 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase... |
OMIM:615559 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azygou... |
OMIM:618846 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, In... |
ORPHA:73246 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal... |
OMIM:601847 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cyanosis, Failure to thrive in infancy, Elevated alka... |
ORPHA:51608 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:614935 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Renal cyst, Cleft palate, Growth delay |
OMIM:614424 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dyspl... |
OMIM:613091 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Macroglossia, Umbilical hernia,... |
OMIM:268310 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Hemoly... |
ORPHA:79282 |
Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vas... |
ORPHA:2331 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Renal cyst, Cholestasis, Bile duct pro... |
OMIM:261515 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Spontaneous pneumothorax, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root an... |
OMIM:619825 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Patent ductus art... |
ORPHA:290 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St... |
OMIM:235555 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Purpura |
ORPHA:375 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Secundum atrial septal defect, Patent ductus arterio... |
OMIM:617397 |
Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... |
ORPHA:1923 |
Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, High palate, Double outle... |
OMIM:616652 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt... |
OMIM:617575 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Renal hypoplasia, Cleft palate, ... |
ORPHA:1307 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... |
OMIM:146510 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi... |
OMIM:612714 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Hematuria, Growth d... |
ORPHA:77259 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Coarctation of aorta, Abnormal heart morphology, H... |
ORPHA:2209 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Narrow palate, Mitral regurgitation, Pulmoni... |
OMIM:277600 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Short statu... |
OMIM:257300 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... |
OMIM:613808 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Cyanosis |
OMIM:613977 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... |
ORPHA:141127 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Situs inversus totalis, High, narrow... |
OMIM:614976 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Cryptorchidism, Splenomegaly, Hepatosple... |
OMIM:613563 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Cleft palate... |
ORPHA:2237 |
Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the... |
OMIM:161950 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... |
OMIM:194380 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Intes... |
ORPHA:955 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hepatosplen... |
ORPHA:275761 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ab... |
ORPHA:505248 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Coarctation of the descending aortic arch, Cardiomyopa... |
ORPHA:79321 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Mitral valve prolapse, Hypocalcemia, Neph... |
ORPHA:1563 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Urinary incontinence, Prolonged neonatal jaundice |
OMIM:618868 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Mitral valve prolapse, Nephropathy |
OMIM:247410 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... |
ORPHA:2461 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Failure to thrive |
OMIM:608091 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a... |
ORPHA:79101 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Atrial septal defect, Microgastria, Hepatomegaly, Multicystic kidney d... |
ORPHA:2538 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect, Short stature |
ORPHA:1458 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz... |
ORPHA:447 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Elevated circulating hexacosanoic acid concentration, Jaundice, Elevated circulatin... |
OMIM:614872 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Supernumerary nipple, Pyloric stenosis, Obesity, Umb... |
ORPHA:1001 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary veno... |
ORPHA:1120 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Cardiomeg... |
OMIM:252500 |
Proteus Syndrome |
|
Lymphangioma, Splenomegaly, Venous malformation |
OMIM:176920 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Villous atrophy, Ventricular septal defect, Ureteral hyp... |
ORPHA:79328 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat... |
OMIM:220500 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... |
ORPHA:3027 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... |
ORPHA:91387 |
Lassa Fever |
|
Jaundice, Oliguria |
ORPHA:99824 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Joubert Syndrome 9 |
|
Encephalocele, Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J... |
ORPHA:79124 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Anterior pituitary hypoplasia, Pyloric stenosis,... |
ORPHA:464306 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Abn... |
ORPHA:2059 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Myocarditis, Angioedem... |
ORPHA:139402 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, ... |
ORPHA:381 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Arthrogryposis Multiplex Congenita 5 |
|
Growth delay, Umbilical hernia, Premature skin wrinkling, Medullary nephrocalcinosis, Intrauterin... |
OMIM:618947 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Knobloch Syndrome |
|
Lymphangioma, Pyloric stenosis, Patent ductus arteriosus, Dextrocardia |
ORPHA:1571 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Abnormal heart valve morphology, ... |
ORPHA:36412 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus... |
ORPHA:261344 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Ventricular septal ... |
OMIM:229850 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
Odontochondrodysplasia 1 |
|
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... |
OMIM:193300 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Enlarged lacrimal glands, ... |
ORPHA:797 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizomelia, Hemoly... |
OMIM:611209 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Agnathia-Otocephaly Complex |
|
Situs inversus totalis, Secundum atrial septal defect, Aglossia, Cleft palate, Pulmonary hypoplas... |
OMIM:202650 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th... |
OMIM:619155 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Celiac disease, Cryptorchidism, Glandular hypospadias, Nephrocalcinos... |
OMIM:136140 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Short stature, Renal amyloidosis, Elevated circulating C-reactive protein co... |
OMIM:191900 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Pericarditis, Cutis marmorata, Peritonitis, Erythema, Oligur... |
ORPHA:727 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Hepatoblastoma, Atrial septal defect, Exaggerated median tongue furrow, H... |
OMIM:312870 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Poster... |
ORPHA:464311 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Recurrent bronchiolitis, Coarctation of aorta |
OMIM:616069 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Abnormal pericardium mo... |
ORPHA:183 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... |
ORPHA:2729 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Encephalocele, Pancreatic f... |
ORPHA:564 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Increased phosphoribosylpyrophosphate synthet... |
ORPHA:411543 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma... |
ORPHA:353281 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Tetrasomy 9P |
|
Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Absent gallbladder, ... |
ORPHA:3310 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational... |
ORPHA:500095 |
Joubert Syndrome 1 |
|
Protruding tongue, Renal cyst, Occipital myelomeningocele, Macroglossia, Hepatic fibrosis, Nephro... |
OMIM:213300 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Agenesis of pineal gland, Abnormal heart valve morphology, Cryptorchidism,... |
ORPHA:536471 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Narrow palate, Mit... |
OMIM:608328 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Uroli... |
OMIM:300661 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Cutis marmorata, Absence of renal corticomedullary differentiation, Secundum atrial septal defect... |
OMIM:619758 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Renal cyst, Ectodermal dysplasia, High palate, Atrial septal defect, Patent foramen ... |
OMIM:613610 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Abnormal urinary color, Jaundice |
ORPHA:90033 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Short stature, Supernumerary nipple, Cryptorchidism, Patent ductus art... |
OMIM:618454 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, R... |
OMIM:617260 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c... |
OMIM:617730 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Bilateral cryptorchidism, Disproport... |
OMIM:242900 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Renal h... |
OMIM:616300 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Tricuspid stenosi... |
ORPHA:391641 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He... |
OMIM:612541 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta |
ORPHA:2876 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Intestinal obstruction, Porta... |
ORPHA:131 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:616975 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Acute leukemia, Transposition of th... |
ORPHA:3474 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II |
OMIM:224100 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect, Cleft palate, Coarctation of aorta |
OMIM:620210 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Epistaxis, Elevated circulating aspartate aminotransferase concen... |
OMIM:614034 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Neoplasm of th... |
ORPHA:2241 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot |
OMIM:613630 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Small for gestational age, Short stature, Minimal change glomerul... |
ORPHA:1830 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal... |
OMIM:269860 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Ectodermal dysplasia, Cirrhosis, Nephr... |
OMIM:614099 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... |
ORPHA:79473 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Hy... |
ORPHA:913 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay |
OMIM:615631 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Bruising susceptibi... |
ORPHA:182050 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Short stature, Premature graying of hair, High pala... |
ORPHA:1297 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Aminopterin/Methotrexate Embryofetopathy |
|
Ventricular septal defect, Situs inversus totalis, Cleft palate, Pulmonary artery atresia, Tetral... |
ORPHA:1908 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Prolonged neonatal jaundice, Umbilical hernia, Abnormal circulatin... |
ORPHA:95715 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Subval... |
ORPHA:3191 |
Anauxetic Dysplasia 1 |
|
Macroglossia, Aortic valve stenosis |
OMIM:607095 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Malabsorption... |
ORPHA:537 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
ORPHA:163956 |
16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... |
ORPHA:485405 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Short stature, Cryptorchidi... |
OMIM:617159 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund... |
OMIM:300908 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... |
OMIM:257200 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis |
OMIM:231050 |
Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Short stature, Cryptorchidism, Prolonged... |
ORPHA:59 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Short stature, Functional abnormality of the... |
ORPHA:223 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Restrictive Dermopathy |
|
Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Submucou... |
ORPHA:1662 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Macroglossia, High palate, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:614501 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... |
OMIM:619525 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver |
ORPHA:205 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:136680 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, High palate, Atrial septal d... |
ORPHA:96121 |
Orofaciodigital Syndrome I |
|
Proteinuria, Short stature, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Cleft palate... |
OMIM:311200 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... |
OMIM:164280 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Short stature, Cryptorchidis... |
OMIM:122470 |
Hyperbiliverdinemia |
|
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... |
OMIM:614156 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Hamartoma of tongue, Intestinal malrotation, Micr... |
OMIM:263520 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Neonatal Alloimmune Neutropenia |
|
Jaundice |
ORPHA:464370 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Necrolytic migratory... |
ORPHA:438274 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... |
ORPHA:805 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Hypoplastic ao... |
OMIM:300166 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hamartoma of tongue, Subvalvular aortic stenosis |
ORPHA:1338 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vas... |
ORPHA:79474 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation, Elevated circu... |
OMIM:620366 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, ... |
ORPHA:810 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Patent ductus arteriosus, M... |
OMIM:117550 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Macroglossia, Prolonged neonatal jaundice, Umbilical hernia, Goiter |
ORPHA:226313 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Aganglionic megacolon, Abnormality of the kidney, High, narrow palate,... |
OMIM:209900 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr... |
OMIM:614972 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Cleft palate, Sirenomelia... |
ORPHA:79500 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... |
OMIM:137940 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Respiratory tract infection, Patent foramen ovale, Patent ductus arter... |
OMIM:180849 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... |
OMIM:209920 |
Familial Visceral Myopathy |
|
Aganglionic megacolon, Hyperparathyroidism, Abdominal situs inversus, Cleft palate |
ORPHA:2604 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Microsporidiosis |
|
Glossitis, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarge... |
ORPHA:276280 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Hepatic fibrosis, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Dextrocardia, Intestinal malrotation, Cryptorchidism, Mitral valve p... |
OMIM:620305 |
Teebi-Shaltout Syndrome |
|
High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Cleft palate |
OMIM:272950 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, High palate |
OMIM:614846 |
Pagod Syndrome |
|
Sudden cardiac death, Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypopla... |
ORPHA:991 |
Joubert Syndrome 39 |
|
Overweight, Occipital encephalocele, Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Median cleft palate, Enlarged ... |
OMIM:612651 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Prolonged neonatal jaundice, Umbilical hernia, Abnormal circulating thyroglobulin l... |
ORPHA:95716 |
Feingold Syndrome |
|
Esophageal atresia, Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas, Duoden... |
ORPHA:1305 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... |
OMIM:600987 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Short stature, Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Jaundi... |
OMIM:613038 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy |
OMIM:616483 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... |
OMIM:613388 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... |
ORPHA:284426 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, High palate, H... |
OMIM:619503 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... |
ORPHA:261318 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Growth delay, Mild prot... |
OMIM:619147 |
Snakebite Envenomation |
|
Hyponatremia, Angioedema, Erythema, Ecchymosis, Hypopituitarism, Acute kidney injury |
ORPHA:449285 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Flushing, Intrauterine growt... |
ORPHA:525731 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S... |
OMIM:301050 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Spleno... |
ORPHA:231226 |
Distal Deletion 10Q |
|
Atrial septal defect, Failure to thrive, Short stature, Postnatal growth retardation, Patent duct... |
ORPHA:96148 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short stature, Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Short stature, Renal hypopl... |
OMIM:618460 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft ... |
ORPHA:268261 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Short stature, Intestinal malrotation, Cryptorchidism, Pa... |
OMIM:102500 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphyrin... |
OMIM:263700 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Renal insufficiency, Obesity |
OMIM:615986 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Rhizomelia, Stage 1 chronic kidney disease, Patent foramen ovale, Obesity |
OMIM:618821 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Growth delay, High palate, In... |
ORPHA:261349 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Splenomegaly, Increased circulating ferritin concentratio... |
ORPHA:766 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera... |
OMIM:256810 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, High palate, Raynaud phenomenon, Carotid artery o... |
ORPHA:740 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... |
OMIM:619472 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Short stature, Cryptorchidism, Atrial septal defect, Hydronephrosis |
ORPHA:85201 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Jaundice... |
ORPHA:1333 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste... |
ORPHA:1606 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat... |
OMIM:270400 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, Short stature, High palate, Reduced pancreatic beta cells |
OMIM:226980 |
Scrub Typhus |
|
Myocarditis, Splenomegaly, Renal insufficiency |
ORPHA:83317 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Spina bifida, Myelomening... |
ORPHA:1393 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cleft palate, Pul... |
ORPHA:1335 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice, Premature graying of hair, Petechiae |
ORPHA:79477 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Intestinal ma... |
ORPHA:353277 |
Loeys-Dietz Syndrome 4 |
|
Broad uvula, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosi... |
OMIM:614816 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... |
OMIM:617168 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Bicuspid aortic valve, Mitr... |
ORPHA:1596 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d... |
OMIM:268200 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palate, Cleft palate, H... |
OMIM:301043 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Cleft ... |
OMIM:139210 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... |
OMIM:308940 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, ... |
ORPHA:137675 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Telangiectasia, Chordee, Hypopla... |
OMIM:300519 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... |
OMIM:277400 |
Mend Syndrome |
|
Cryptorchidism, Cleft palate, Abnormal heart morphology, High palate, Aortic valve stenosis |
ORPHA:401973 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Abnormal heart morpholo... |
ORPHA:171929 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Weight l... |
ORPHA:35687 |
Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri... |
OMIM:233450 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Failure to thrive in infancy, Aganglionic megacolon, A... |
ORPHA:798 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Decreased circu... |
OMIM:300972 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoalbumine... |
OMIM:618329 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ha... |
ORPHA:2750 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Enlarged l... |
ORPHA:449432 |
Systemic Sclerosis |
|
Abnormal small intestine morphology, Renal insufficiency, Pericarditis, Proteinuria, Elevated cir... |
ORPHA:90291 |
Refsum Disease |
|
Splenomegaly, Renal insufficiency, Cardiomyopathy |
ORPHA:773 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Erythema, Multiple gast... |
OMIM:225750 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Short s... |
OMIM:251300 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... |
OMIM:603553 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Ventricular s... |
OMIM:619418 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... |
ORPHA:392 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... |
OMIM:602782 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis, Coarcta... |
OMIM:217085 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of... |
ORPHA:2092 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous... |
OMIM:175050 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
OMIM:615873 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Celiac disease, Jaundice, Hepatic failure, Bi... |
ORPHA:186 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Prematurel... |
OMIM:610965 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia,... |
OMIM:617671 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Fanconi Anemia |
|
Abnormality of the liver, High palate, Atrial septal defect, Hypospadias, Short stature, Spina bi... |
ORPHA:84 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Tuberous Sclerosis 1 |
|
Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma |
OMIM:191100 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Abnormal circulating enzyme concentration or activ... |
ORPHA:79276 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Pericarditis, Elevated circu... |
ORPHA:900 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Mitral atresia, Short stature, Ectopic kidney, Horseshoe kid... |
ORPHA:140952 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Patent ductus arteriosus, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic a... |
OMIM:617248 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... |
ORPHA:974 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Abnormality of... |
ORPHA:1764 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Anal atresia |
ORPHA:3301 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia |
OMIM:617866 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Edema, Dehydration |
ORPHA:103910 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Failure to thrive in infancy, Hepatocellular carcinoma, Hypersp... |
ORPHA:231214 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration |
OMIM:613839 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
Acitretin/Etretinate Embryopathy |
|
Conotruncal defect, Hypoplasia of the thymus, High palate, Bradycardia, Third degree atrioventric... |
ORPHA:40366 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Large for gestational age, Renal cyst, Mitral valve... |
OMIM:617107 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Hypercalcemi... |
ORPHA:97278 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, Hig... |
ORPHA:3015 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Premature graying of hair, High palate, Atrial septal defect, Patent ... |
OMIM:619488 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Microglossia |
ORPHA:990 |
Listeriosis |
|
Pericarditis, Liver abscess, Myocarditis, Jaundice, Peritonitis, Endocarditis, Pyelonephritis, He... |
ORPHA:533 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia |
ORPHA:1203 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Progeroid Short Stature With Pigmented Nevi |
|
Esophageal ulceration, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:176690 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Hyperechogenic kidneys |
OMIM:615636 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepati... |
OMIM:249000 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst... |
OMIM:613470 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:614114 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Short stature, Cleft palate, ... |
OMIM:161200 |
Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Velopharyngeal insufficiency, High ... |
OMIM:617746 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Pericarditis, Elevated circulating creatine k... |
ORPHA:99826 |
Immunodeficiency 96 |
|
Growth delay, Multicystic kidney dysplasia, Conjunctival telangiectasia |
OMIM:619774 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Eleva... |
OMIM:619573 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Reduced circulating aldolase concentration, Hyperkalemia... |
ORPHA:57 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca... |
OMIM:613254 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Disproportionate s... |
OMIM:210710 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Cleft palate, Nephropathy |
ORPHA:220497 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity |
OMIM:615989 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Petechiae |
ORPHA:83313 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi... |
ORPHA:779 |
Yellow Nail Syndrome |
|
Biliary tract neoplasm, Nephropathy, Generalized abnormality of skin, Renal neoplasm |
ORPHA:662 |
Vater/Vacterl Association |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistul... |
OMIM:192350 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Cleft palate, Coarctat... |
OMIM:616145 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta |
ORPHA:101028 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Nephropathy, Renal insufficiency, Aganglionic megacolon |
ORPHA:2318 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Ventricular septal defect, Cleft soft palate, Ectopic kidney, Postnatal growth ret... |
OMIM:117650 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Transposition ... |
OMIM:256520 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Vesicoureteral reflux, Hypoparathyr... |
ORPHA:567 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angiokeratoma, Ventricular septal hypertrophy, Angiokeratoma co... |
OMIM:301500 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Ventricular septal defect, Rectal fistula, Cryptorchidism, F... |
ORPHA:49 |
Fabry Disease |
|
Conjunctival telangiectasia, Nephropathy, Glomerulopathy, Short stature, Angiokeratoma, Nephrotic... |
ORPHA:324 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen... |
ORPHA:444490 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Elevated circulat... |
ORPHA:39812 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Thyroid hypoplasia, Failure to thrive, Pituitary hypothyroidism, Growth delay, Macroglossia, Umbi... |
ORPHA:90674 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ... |
ORPHA:97282 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Short stature, Hiatus hernia, Stage 5 chronic kidney di... |
OMIM:617729 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, High, narrow palate, Atrial septal defect, Hepatoblast... |
ORPHA:373 |
Calciphylaxis |
|
Hyperphosphatemia, Cutis marmorata, Stage 5 chronic kidney disease, Secondary hyperparathyroidism |
ORPHA:280062 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Hypercalcemi... |
ORPHA:97283 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Abnormal lung lobation, ... |
OMIM:300514 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial n... |
ORPHA:488627 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe fai... |
ORPHA:423479 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Hypercalcemi... |
ORPHA:97261 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Hematuria, Nephrotic syndrome... |
ORPHA:93552 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Small for gestational age, Short stature, Ectopic k... |
OMIM:227646 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Decreased body weight, Proteinuria, Abnormality of body weight, Abnormal circul... |
ORPHA:2298 |
Meningococcal Meningitis |
|
Renal insufficiency, Petechiae, Elevated circulating C-reactive protein concentration, Purpura |
ORPHA:33475 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Intestinal perforation, Peritonitis, Rectal prolapse, Elevated circulating ... |
ORPHA:90038 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Arteriovenous malformation, Lym... |
ORPHA:137608 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Growth delay, ... |
ORPHA:99832 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, High palate, Poly... |
OMIM:606232 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Rift Valley Fever |
|
Hematuria, Jaundice, Hepatitis, Elevated hepatic transaminase |
ORPHA:319251 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Hypoproteinemia |
OMIM:608093 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemi... |
ORPHA:822 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, Hypocalcemia, High palate,... |
OMIM:188400 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ... |
OMIM:619603 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... |
ORPHA:676 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature |
ORPHA:2715 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Malabsorption, Xerostomia, Oliguria |
ORPHA:220393 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
Charge Syndrome |
|
Atrial septal defect, Anal stenosis, Overriding aorta, Ventricular septal defect, Secundum atrial... |
OMIM:214800 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Cleft palate |
ORPHA:2165 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Elevated circulating creatine kinase concentration |
ORPHA:565899 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:605039 |
Evans Syndrome |
|
Jaundice, Bruising susceptibility, Petechiae |
ORPHA:1959 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature |
ORPHA:313 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis, Failure to th... |
OMIM:615512 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Renal insufficiency, Cholestasis, Purpura |
ORPHA:293173 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Increased circulating lactate dehydrogenase c... |
ORPHA:319213 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Glomerulonephritis, Pyelonephritis |
OMIM:610984 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Hyperalaninemia, Hyper... |
OMIM:618250 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Ventricular septal defect, Short stature... |
ORPHA:97360 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal ... |
ORPHA:31826 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Pyloric stenosis, Mitral stenosis, Dysphagia, Subvalvular aortic stenosis |
OMIM:619461 |
Menkes Disease |
|
Malabsorption, Bladder diverticulum, Spontaneous hematomas, Umbilical hernia, Prolonged neonatal ... |
ORPHA:565 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, High palate, Atr... |
OMIM:249420 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun... |
ORPHA:288 |
Joubert Syndrome 8 |
|
Hepatomegaly, Occipital encephalocele, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Obesity, High palate, Moderate albuminuria |
OMIM:614231 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Renal insufficiency, Cutis marmorata, Malabsorption, Splenomegaly, Urticaria, Purpura |
ORPHA:33226 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Increased circulating ferritin con... |
OMIM:222700 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Atrial septal defect, Atrioventricular canal defect, Multicystic kidney dysp... |
ORPHA:818 |
Acth Deficiency, Isolated |
|
Cholestasis, Jaundice, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Short stature, Intestinal... |
OMIM:300373 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Increased circulating lactate dehydrogenase concentration, Prot... |
ORPHA:99827 |
Mend Syndrome |
|
Cryptorchidism, Aortic valve stenosis, High palate |
OMIM:300960 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Anencephaly, Cleft palate, Polycystic kidney dysplasia, Atrial septal defect... |
OMIM:616546 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Subcutaneous lipoma, Hypercalcemi... |
ORPHA:97280 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abdominal situs inversus |
ORPHA:2062 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Patent... |
ORPHA:1708 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Hemosiderinuria, Increased circulating lactate dehydrogenase concentration, Jaundice, Reduced hap... |
OMIM:105600 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Lip... |
OMIM:616580 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615503 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Atrial septal defect, Vesicoureteral... |
ORPHA:857 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Aganglionic m... |
ORPHA:261537 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Biliary cirrhosis, Hypercalc... |
OMIM:219700 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Small for gestational age, Mild postnatal growth retardation, Reduced level of N-ac... |
OMIM:224120 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Abnormal lung lobation, Cleft palate, Coarctation of ... |
ORPHA:1052 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Cardiomyopathy, Inflammation of the large intestine, Colitis, Ecchymosis, Br... |
OMIM:203300 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Bifid uvula, Pu... |
ORPHA:2152 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellu... |
ORPHA:90062 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Proteinuria, Esophageal neoplasm, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:1018 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch,... |
ORPHA:261311 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Mitral valv... |
ORPHA:1900 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Purpura, Cutis marmorata, Telangiectasia of the skin, Patent ductus... |
ORPHA:1556 |
Joubert Syndrome |
|
Situs inversus totalis, Aganglionic megacolon |
ORPHA:475 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,... |
ORPHA:542323 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Biliary hyperplasia, Cryptorchidism, Postnatal growth retardatio... |
ORPHA:83617 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Jaundice, Failure to thrive |
ORPHA:276 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylot... |
OMIM:616843 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus, High palate, Annular pancreas |
OMIM:618162 |
Peroxisome Biogenesis Disorder 6B |
|
Delayed menarche, Elevated circulating phytanic acid concentration, Decreased liver function, Pro... |
OMIM:614871 |
Thyroid Hypoplasia |
|
Short stature, Jaundice, Growth delay, Macroglossia, Thyroid hypoplasia |
ORPHA:95720 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Angioedema, Erythema, Hematuria, Urti... |
ORPHA:761 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Small for gest... |
OMIM:557000 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Anal fissure, Chronic kidney disease... |
ORPHA:79408 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Cryptorchidism, Abnormality of... |
ORPHA:280 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, ... |
OMIM:200980 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Ove... |
OMIM:619475 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Chol... |
ORPHA:198 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevat... |
ORPHA:509 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Conjunctival telangiectasia, Telangiectasia of the skin, Portal hypertensio... |
ORPHA:774 |
Cockayne Syndrome |
|
Urinary incontinence, Hepatomegaly, Cryptorchidism, Renal hypoplasia, Nephrotic syndrome, Delayed... |
ORPHA:191 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl... |
OMIM:236700 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Macroglossia, Prolonged neonatal jaundice, Umbilical h... |
ORPHA:226316 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Cleft hard palate, Asplenia, Abnormality of the pulmonary artery, Bifid uv... |
ORPHA:261552 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral va... |
OMIM:107480 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Severe short stature, Pro... |
OMIM:133540 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, ... |
ORPHA:728 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B... |
ORPHA:227990 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, ... |
OMIM:181270 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Aortic valve calcific... |
ORPHA:2072 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Petechiae, Chronic kidney... |
ORPHA:340 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Ventricular septal defect, Interrupted aortic arch, Gastroesophageal reflux |
OMIM:616920 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Gastroesophageal reflux, Ventricular septal defect, Cleft palate |
ORPHA:513456 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Chronic kidney disease, Oligo... |
ORPHA:330015 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Pneumonia, Respiratory tract infection, Atelect... |
ORPHA:51636 |
Isolated Cleft Lip |
|
Situs inversus totalis, Velopharyngeal insufficiency |
ORPHA:199302 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... |
ORPHA:95409 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... |
OMIM:612562 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating lactate dehydrogenase concentration, Portal vein thrombosis, Increased circ... |
ORPHA:3202 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,... |
OMIM:608885 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Macroglossia, Prolonged n... |
ORPHA:90673 |
Esophageal Atresia |
|
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... |
ORPHA:1199 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Pericarditis, Malabsorption, Orchitis, Splenomegaly, Endocar... |
ORPHA:117 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Spondyloenchondrodysplasia |
|
Proteinuria, Decreased response to growth hormone stimulation test, Short stature, Chronic kidney... |
ORPHA:1855 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Rhizomelia, P... |
OMIM:261540 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... |
OMIM:167800 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Bicuspid aortic valve, Rhizomelia, Malformation of the hepatic ductal plate, Renal ... |
OMIM:218330 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Abnormal aortic valve... |
ORPHA:86818 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Short stature, Cutis marmorata, Cardiomegaly, Micropenis, Hepatosp... |
ORPHA:51 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Esophageal atresia, Biliary atresia, Primum atrial septal defect, Growth delay, An... |
OMIM:615272 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Arterial Tortuosity Syndrome |
|
Median cleft lip and palate, Hiatus hernia, Myocarditis, Pulmonary artery stenosis, Dilated cardi... |
ORPHA:3342 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Esophag... |
ORPHA:93271 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pyloric stenosis, Cryptorchidism, At... |
OMIM:147791 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Splenomegaly, Jaundice, My... |
ORPHA:3385 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Adrenal hyperplasia, Jaundice, Hyperkalemia, Macroorchidism, Failure to thrive |
ORPHA:90790 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, High palate, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney... |
ORPHA:199 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Occipital encephalocele, Multicystic kidney dysplasia, Elevated circul... |
OMIM:615287 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Edema |
ORPHA:1054 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... |
OMIM:613001 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Ventricular septal defect, Patent ductus arteriosus, Hypoplas... |
ORPHA:2962 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Constricting Bands, Congenital |
|
Ectopia cordis, Abnormal lung lobation, Cleft palate |
OMIM:217100 |
Pyomyositis |
|
Renal insufficiency, Weight loss, Testicular teratoma |
ORPHA:764 |
Peters Plus Syndrome |
|
Ureteral duplication, Bicuspid pulmonary valve, Spina bifida occulta, Renal duplication, Intestin... |
ORPHA:709 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Proteinuria, Short statur... |
OMIM:216400 |
Chromosome 2Q37 Deletion Syndrome |
|
Arrhythmia, Subvalvular aortic stenosis |
OMIM:600430 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorch... |
OMIM:268300 |
Poland Syndrome |
|
Dextrocardia, Cryptorchidism, Acute leukemia, Abnormality of the liver, Atrial septal defect |
ORPHA:2911 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
C Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplas... |
ORPHA:1308 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... |
OMIM:617506 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Cleft palate, Coarc... |
OMIM:600460 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Malabsorption, Weight loss, Cardiomyopathy, Bruising susceptibility |
ORPHA:79430 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Disproportionate short-trunk short stature, Renal cyst |
OMIM:272460 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Abnormal blood ion concentration, Oliguria, Hypop... |
ORPHA:31824 |
Aceruloplasminemia |
|
Refractory anemia, Congestive heart failure, Abnormal pancreas morphology, Hypochromic microcytic... |
ORPHA:48818 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Pericardial effusion, Increase... |
ORPHA:167 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... |
OMIM:269200 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Anteriorly placed anus, Cryptorchidism, Hypospadias, Renal cyst |
ORPHA:495875 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Urinary incontinence, Abnormal stomach mor... |
ORPHA:512 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Phimosis, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Prol... |
ORPHA:363611 |
Sotos Syndrome |
|
Ureteral duplication, Atrial septal defect, Vesicoureteral reflux, Flushing, Hypospadias, Abnorma... |
ORPHA:821 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Jaundice, Prolonged neonatal jau... |
OMIM:607625 |
Zygomycosis |
|
Renal insufficiency, Pericarditis, Gastritis, Myocarditis, Peritonitis, Hepatitis, Endocarditis, ... |
ORPHA:73263 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Pituitary dwarfism, Anterior pituitary hypoplasia, Decreased respons... |
ORPHA:226307 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
Bohring-Opitz Syndrome |
|
Short stature, Cardiomegaly, Annular pancreas, Cleft palate, Abnormal cardiac septum morphology, ... |
ORPHA:97297 |
Roberts Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Long penis, Cleft palate, High palate, Severe intra... |
ORPHA:3103 |
Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy, Abnormal... |
ORPHA:85448 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:612653 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Venous malformation |
ORPHA:75508 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Abdominal obesity, Hy... |
OMIM:619321 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Congestive heart failure, Cryptorchidism, Glossoptosis, Abdominal situs inve... |
ORPHA:2108 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Abnormality of the kidney, Abnormality of the spleen, Peritoni... |
ORPHA:228123 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,... |
ORPHA:97214 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, H... |
OMIM:608612 |
Femoral-Facial Syndrome |
|
Renal agenesis, Truncus arteriosus, Abnormal renal collecting system morphology, Ventricular sept... |
OMIM:134780 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... |
ORPHA:2614 |
Limb Body Wall Complex |
|
Ventricular septal defect, Cleft palate, Abnormal heart morphology, Abnormality of the liver, Abn... |
ORPHA:2369 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Intestinal perforation, Pancreatitis, Myocarditis, Hyperkalemia, Oliguria, ... |
ORPHA:544482 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy |
ORPHA:99868 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, He... |
ORPHA:3261 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Erythema, Nephrotic syndrome, Focal segmental glomerulosclerosi... |
OMIM:614748 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Protruding tongue, Cryptorchidism, Conotruncal defect, Macroglo... |
OMIM:610253 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Cutis marmorata, Glomerulonephritis, Abnormality o... |
ORPHA:289390 |
Spherocytosis, Type 2 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616649 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Inflammation of the large intestine, ... |
ORPHA:881 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitra... |
OMIM:616564 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, A... |
OMIM:153400 |
Thyroid Ectopia |
|
Short stature, Jaundice, Growth delay, Macroglossia, Ectopic thyroid, Umbilical hernia |
ORPHA:95712 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Short stature, Gastric ulcer, Delayed puberty |
OMIM:208060 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Absent nipple, Aplasia of the thymus, Short stature, Hydrocele testis, Bifid uvul... |
OMIM:620186 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Small for gestational age, Ventricular septal defect, Short statur... |
OMIM:194190 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short stature, Conjugated hyperbilirubinemia, Postnatal growth retardation, Jaundice, Hepatosplen... |
ORPHA:168577 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Low cholesterol esterification rate, Splenomegaly, ... |
OMIM:257220 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Short stature, Malabsorption, High palate, Prolonged neonatal jaundice |
OMIM:233600 |
Rh Deficiency Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Jaundice, Hepatosplenomegaly, Hyperbil... |
ORPHA:71275 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal... |
OMIM:308205 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Stage 5 chronic kidney disease |
OMIM:614378 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Proteinuria, Poor wound healing, Increased body weight, Hemoglobin... |
ORPHA:244242 |
Spherocytosis, Type 5 |
|
Splenomegaly, Jaundice |
OMIM:612690 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Chylopericardium, Hematuria, Multiple renal cysts, Renal ... |
ORPHA:538 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Cardiomyocyte mitoc... |
ORPHA:423 |
3Q29 Microdeletion Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, High palate, Subvalvular aortic stenosis, Pulm... |
ORPHA:65286 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529808 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:113620 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Hepatomegaly, Jaundice, Bruising susceptibility |
OMIM:214500 |
Pallister-Killian Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, Cryptorch... |
OMIM:601803 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin... |
ORPHA:466677 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly |
OMIM:246400 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Elevated circulatin... |
OMIM:243800 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ... |
OMIM:617941 |
Enlarged Parietal Foramina |
|
Cleft palate, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Right ao... |
OMIM:164210 |
Mercury Poisoning |
|
Hypokalemia, Acute kidney injury |
ORPHA:330021 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Abn... |
ORPHA:744 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Cry... |
ORPHA:2052 |
Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Small for gestational age, Sle... |
OMIM:613658 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Intestinal p... |
ORPHA:90068 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Serotonin Syndrome |
|
Acute kidney injury, Hepatic failure |
ORPHA:43116 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Goiter, Pituitary adenoma, Ade... |
ORPHA:733 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Livedoid Vasculopathy |
|
Pancytopenia, Abnormal capillary morphology, Telangiectasia of the skin, Venous insufficiency, Le... |
ORPHA:542643 |
Rh-Null, Regulator Type |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Patent ductus arteriosus, Coarctation of aorta, Gastroesophagea... |
ORPHA:17 |
Orofaciodigital Syndrome Type 3 |
|
Lobulated tongue, Bifid uvula, Stage 5 chronic kidney disease, Hamartoma of tongue |
ORPHA:2752 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
Cerebrotendinous Xanthomatosis |
|
Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Myelopathy, A... |
ORPHA:909 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Abnormal circulating enzyme concentration or activity |
ORPHA:25 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice |
OMIM:611804 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, High palate, Interrupted aortic arc... |
ORPHA:250989 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Pseudobulbar p... |
OMIM:125310 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Cleft palate, High palate, Atrial septal defec... |
OMIM:309500 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Birth ... |
ORPHA:3404 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotati... |
OMIM:606170 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... |
OMIM:300989 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Increased circulating lactate dehydrogenase concentration, Intermittent jaundice |
ORPHA:3203 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Short stature, Pyloric stenosis, Mitral valve pro... |
OMIM:218040 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Aortic root... |
OMIM:620025 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Thrombocytopenia,... |
OMIM:274000 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan... |
OMIM:616263 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Cleft palate, Varicose veins, Abnormality of the pulmonary vasculature,... |
ORPHA:33001 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Abnormal morphology of the great vessels, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Interrupted aortic arch, Atria... |
OMIM:300712 |
Meige Disease |
|
Varicose veins, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Long uvula, Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on tru... |
ORPHA:536532 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P... |
ORPHA:508488 |
Leopard Syndrome 1 |
|
Bundle branch block, Complete atrioventricular canal defect, Cryptorchidism, Cleft palate, Mitral... |
OMIM:151100 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Proteinuria, Elevated circulating growth hormone con... |
ORPHA:79318 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection |
OMIM:618343 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Pseudoaminopterin Syndrome |
|
Asplenia, High palate, Patent foramen ovale, Cryptorchidism |
ORPHA:221120 |
Perlman Syndrome |
|
Distal ileal atresia, Volvulus, Interrupted aortic arch |
OMIM:267000 |
Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Pyloric stenosis, Paten... |
OMIM:235730 |
Clapo Syndrome |
|
Lymphangioma, Varicose veins, Venous malformation |
ORPHA:168984 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Jaundice, Hepatosplenomegaly, Ab... |
ORPHA:646 |
Tetraamelia Syndrome 1 |
|
Asplenia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Adrenal gland ... |
OMIM:273395 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation |
OMIM:612918 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Intracranial hemorrhage, Inter... |
ORPHA:163979 |
Elliptocytosis 3 |
|
Intermittent jaundice |
OMIM:617948 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Erythema, Xerostomia, Stage 5 chroni... |
ORPHA:90340 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia |
OMIM:609069 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea |
OMIM:615935 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aortic arch morpho... |
ORPHA:96334 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Intestinal perforation, Xerost... |
ORPHA:95455 |
Holoprosencephaly |
|
Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve morphology, Apla... |
ORPHA:2162 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Telangiectasia, Anteriorly placed anus, High palate, Annular pancreas |
OMIM:268400 |
Ring Chromosome 7 Syndrome |
|
Situs inversus totalis, Cleft palate, Heart murmur, Hydrocele testis, Median cleft palate, Bifid ... |
ORPHA:1449 |
Mucopolysaccharidosis Type 2 |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Recurrent upper respiratory... |
ORPHA:580 |
Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, Cleft palate, Abnormal heart morphology, Dilatatio... |
ORPHA:284984 |
Foix-Alajouanine Syndrome |
|
Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to... |
ORPHA:358 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Patent ductus arteriosus, High palate, Aortic dissection, Arterial dissectio... |
ORPHA:60030 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Recurrent upper respiratory... |
ORPHA:217085 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Charge Syndrome |
|
Aortic arch aneurysm, Abnormal soft palate morphology, Patent ductus arteriosus, Tracheoesophagea... |
ORPHA:138 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Recurrent upper respiratory... |
ORPHA:217093 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch |
ORPHA:457284 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Gastrointestinal infarctions, Internal hemorrhage, Peripheral arteriovenous ... |
ORPHA:286 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Growth delay, Aplasia of the sweat glands, Chronic kidney disease, Bruising susceptibility |
ORPHA:642 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins, Cryptorchidism |
OMIM:314300 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Varicose veins |
ORPHA:100991 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Hypermobile Ehlers-Danlos Syndrome |
|
Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t... |
ORPHA:285 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Cryptorchidism, High palate, Cleft palate |
ORPHA:1106 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Norrie Disease |
|
Venous insufficiency, Cryptorchidism |
ORPHA:649 |