Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia |
OMIM:600666 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Ab... |
ORPHA:1909 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip... |
OMIM:615382 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... |
OMIM:267010 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... |
OMIM:615415 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... |
ORPHA:446 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, H... |
OMIM:612284 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ... |
OMIM:618999 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... |
ORPHA:369 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... |
OMIM:605376 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... |
OMIM:208500 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the k... |
ORPHA:1041 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Nephrosialidosis |
|
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites |
OMIM:256150 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... |
OMIM:614859 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... |
ORPHA:30391 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to... |
ORPHA:890 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth... |
ORPHA:3156 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Renal Tubular Dysgenesis |
|
Premature birth, Polyhydramnios, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts,... |
ORPHA:3033 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonary insufficiency, Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... |
OMIM:619433 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c... |
OMIM:145001 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis, Abnormality of the urinary system |
OMIM:213010 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... |
ORPHA:1318 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Nemaline Myopathy 9 |
|
Breech presentation, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence |
OMIM:615731 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Thrombocyto... |
ORPHA:464329 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Heterotaxy, Situs inversus totalis |
OMIM:601086 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hep... |
ORPHA:101028 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Lethal Congenital Contracture Syndrome 6 |
|
Decreased fetal movement, Absence of stomach bubble on fetal sonography, Polyhydramnios |
OMIM:616248 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... |
ORPHA:2414 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... |
OMIM:614779 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th... |
ORPHA:480520 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion |
ORPHA:48686 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc... |
OMIM:614034 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... |
OMIM:617872 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... |
OMIM:618052 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple... |
OMIM:232500 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hep... |
OMIM:602579 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise... |
OMIM:619858 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal... |
ORPHA:163596 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Mi... |
OMIM:618815 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis... |
OMIM:208530 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Abn... |
ORPHA:2204 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepat... |
OMIM:618329 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... |
ORPHA:3405 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Polyhydramnios, Fetal akinesia sequence |
OMIM:300073 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain |
ORPHA:168829 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... |
OMIM:615862 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Thr... |
ORPHA:2123 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... |
ORPHA:90308 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Joubert Syndrome 9 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis |
OMIM:613861 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... |
OMIM:608836 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Congenital hepatic fibrosis, Cryptorchidism, Displaceme... |
ORPHA:2377 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios, Polycystic kidney dys... |
OMIM:613885 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... |
OMIM:615158 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... |
OMIM:616749 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops feta... |
OMIM:269920 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Congenital Pulmonary Airway Malformation |
|
Premature birth, Polyhydramnios |
ORPHA:2444 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Ascites, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal ... |
OMIM:232200 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia |
OMIM:600972 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Renal cyst, Cholestasis... |
OMIM:261515 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype... |
OMIM:232220 |
Congenital Myopathy 11 |
|
Decreased fetal movement, Polyhydramnios, Breech presentation, Atrial septal defect, Patent foram... |
OMIM:619967 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Hydroce... |
OMIM:601927 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Sp... |
ORPHA:99776 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... |
OMIM:608540 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy... |
OMIM:619003 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios |
OMIM:215550 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia, Situs inversus totalis |
OMIM:612776 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis, Polyhydramnios |
ORPHA:1450 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, 3-Methylglutaconic aciduria |
ORPHA:67046 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... |
OMIM:193300 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic tran... |
OMIM:276700 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, A... |
OMIM:614702 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... |
OMIM:617205 |
Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... |
OMIM:278000 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... |
OMIM:617093 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Nephropathy, Ascites |
ORPHA:87876 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:617577 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... |
OMIM:618719 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic f... |
ORPHA:564 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposi... |
OMIM:314390 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... |
OMIM:619365 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice |
ORPHA:79238 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria |
OMIM:606824 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... |
OMIM:214110 |
Hyperbiliverdinemia |
|
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... |
OMIM:614156 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... |
ORPHA:892 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly |
OMIM:614882 |
Lethal Congenital Contracture Syndrome 2 |
|
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopath... |
OMIM:607598 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... |
OMIM:266920 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Decreased fetal movement, Polyhydramnios |
OMIM:616287 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Bronchiectasis, Dextrocardia |
OMIM:618063 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis |
ORPHA:289916 |
Multiple Intestinal Atresia |
|
Polyhydramnios |
ORPHA:2300 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise... |
OMIM:201475 |
Fetal Akinesia Deformation Sequence 4 |
|
Decreased fetal movement, Polyhydramnios, Cryptorchidism, Absence of stomach bubble on fetal sono... |
OMIM:618393 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... |
OMIM:253250 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardia... |
OMIM:219730 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Tracheal Agenesis |
|
Abnormal cardiac septum morphology, Polyhydramnios |
ORPHA:3346 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... |
OMIM:265380 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Duodenal stenosis |
ORPHA:1759 |
Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:300555 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Premature birth, Polyhydramnios, Cryptorchidism, ... |
ORPHA:2256 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... |
ORPHA:234 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:606763 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia |
OMIM:263210 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... |
ORPHA:35710 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... |
OMIM:218330 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function |
ORPHA:79319 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Orofaciodigital Syndrome I |
|
Short stature, Proteinuria, Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Cleft pal... |
OMIM:311200 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
Symmetrical Thalamic Calcifications |
|
Arrhythmia, Polyhydramnios |
ORPHA:1314 |
Cap Polyposis |
|
Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency |
ORPHA:254857 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... |
ORPHA:1046 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Dec... |
ORPHA:541423 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb... |
ORPHA:521219 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent urinary tract infections, Renal insufficie... |
OMIM:619487 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi... |
ORPHA:79303 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... |
ORPHA:292 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Hydrops fetalis, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Pulm... |
OMIM:212093 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Renal... |
ORPHA:1692 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Nephronophthisis |
OMIM:614845 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Fetal Gaucher Disease |
|
Hepatomegaly, Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Splenomegaly, Abno... |
ORPHA:85212 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... |
ORPHA:805 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ascites |
OMIM:614091 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Polyhydramnios |
OMIM:300580 |
Pyloric Atresia |
|
Polyhydramnios |
OMIM:265950 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,... |
OMIM:618624 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... |
OMIM:619313 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Decreased fetal movement, Ventricular septal defect |
OMIM:253300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Nephropathy, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosi... |
OMIM:617056 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst, Cleft palate, Right aortic arch, Transposition of the great arteries, Do... |
OMIM:231060 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hyperammonemia |
ORPHA:35 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Pancreatitis |
ORPHA:79312 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Decreased fetal movement, Congestive heart failure, Polyhydramnios |
OMIM:616794 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... |
OMIM:617021 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Dextrocardia |
|
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal lung lobation, Abnormal he... |
ORPHA:1666 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Achondrogenesis |
|
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... |
ORPHA:555874 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... |
OMIM:619377 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Hydrops fetalis, Nephr... |
ORPHA:834 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Hypospadias, Polyhydramnios, Large... |
OMIM:222470 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Abnormality of the liver, Nephronophthisis |
ORPHA:474 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Abnormal cardiac septum morphology, Polyhydramnios |
ORPHA:1027 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Decreased fetal movement, Urinary incontinence, Polyhydramnios, Pericardial effusion, Multiple mu... |
OMIM:620070 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Polyhydramnios, Renal duplication |
ORPHA:96190 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu... |
OMIM:619657 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Cryptorchidism, Abnormality of the kidney, Polyhydramnios |
ORPHA:466926 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Nephrotic syndrome, Focal segm... |
OMIM:617303 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Micropenis... |
OMIM:616897 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Cryptorchidism, Micropenis |
OMIM:614684 |
Nemaline Myopathy 10 |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Breech presentation, Neonatal death |
OMIM:616165 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios |
OMIM:615476 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Babesiosis |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Hepatic failure |
ORPHA:108 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
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 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function |
ORPHA:570422 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Small Bowel Atresia |
|
Abdominal distention, Vomiting, Feeding difficulties |
ORPHA:1201 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Nemaline Myopathy 8 |
|
Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence |
OMIM:615348 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis,... |
ORPHA:79328 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Polyhydramnios |
OMIM:612138 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Abnormal heart valve morphology, Proteinuria, ... |
ORPHA:36412 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Polyhydramnios, Fetal akinesia sequence |
OMIM:619602 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:27 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Pontocerebellar Hypoplasia, Type 1E |
|
Polyhydramnios |
OMIM:619303 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias |
OMIM:245550 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly |
ORPHA:100024 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurg... |
OMIM:614866 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... |
OMIM:613662 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... |
OMIM:619123 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Hematuria, H... |
OMIM:185070 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Lethal Congenital Contracture Syndrome 7 |
|
Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence |
OMIM:616286 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Hydrocele testis, Single umbil... |
OMIM:620244 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Edema of the dorsum of feet, Ventricular septal defect, ... |
OMIM:274000 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio... |
OMIM:618892 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha... |
ORPHA:2750 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas... |
OMIM:613658 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... |
OMIM:619534 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... |
ORPHA:1330 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Joubert Syndrome 18 |
|
Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia, Intra... |
OMIM:614815 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd... |
OMIM:256300 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increase... |
ORPHA:261344 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr... |
OMIM:619484 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Hepatosplenomegaly,... |
OMIM:606003 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hyperten... |
ORPHA:367 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega... |
ORPHA:171 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... |
OMIM:613404 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Polyhydramnios, Endocardial fibroelastosis |
OMIM:600559 |
Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Decreased fetal movement, Patent foramen ovale, Premature birth, Polyhydramnios |
OMIM:616867 |
Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydra... |
ORPHA:1263 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Hypertrophic cardiomyopathy, Mitral re... |
OMIM:615355 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Nephrocalcinosis, Congestive heart failure, Polyhydramnios |
ORPHA:500533 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts |
OMIM:617425 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology |
ORPHA:2290 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... |
OMIM:618280 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly |
ORPHA:2432 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Abnormal aortic morphology... |
ORPHA:1166 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, He... |
ORPHA:91138 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Hydrops fetalis, Multiple r... |
ORPHA:3378 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... |
OMIM:249000 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h... |
ORPHA:254534 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... |
ORPHA:26793 |
Ciliary Dyskinesia, Primary, 3 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... |
OMIM:239850 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... |
OMIM:130650 |
Visceral Myopathy 1 |
|
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Supernumerary nipple, Cryptorchidism,... |
OMIM:615102 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... |
ORPHA:69735 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami... |
ORPHA:1667 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Organic aciduria |
OMIM:614741 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... |
OMIM:618775 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly |
OMIM:266150 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Decreased fetal movement, Polyhydramnios, Cryptorchidism |
OMIM:618766 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Pontocerebellar Hypoplasia Type 4 |
|
Polyhydramnios |
ORPHA:166063 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Lymphatic Malformation 1 |
|
Urethral stricture, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele tes... |
OMIM:153100 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Dextrocardia, Anal atresia |
ORPHA:2863 |
Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism, Polyhydramnios |
OMIM:618298 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Hec Syndrome |
|
Premature birth, Polyhydramnios, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, A... |
ORPHA:2119 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Donohue Syndrome |
|
Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia |
OMIM:246200 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... |
OMIM:613807 |
Intermediate Nemaline Myopathy |
|
Cardiomyopathy, Premature birth, Decreased fetal movement, Polyhydramnios |
ORPHA:171433 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
Syndromic Diarrhea |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Renal hypoplasia, Abnormality of the liver,... |
ORPHA:84064 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Pericardial effusion, Hypersplenism, Splenomegaly, Pedal edema, Hematu... |
ORPHA:77259 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Nephrocalcinosis, Premature birth, Polyhydramnios |
OMIM:611087 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Thyroid Hemiagenesis |
|
Abdominal distention, Constipation |
ORPHA:95719 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis, Hematuria, Prolonged QTc interval |
ORPHA:231111 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li... |
ORPHA:79327 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem... |
OMIM:232800 |
Lethal Congenital Contracture Syndrome 11 |
|
Decreased fetal movement, Polyhydramnios |
OMIM:617194 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cortical... |
OMIM:211750 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin... |
OMIM:614376 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect, Cryptorchidism |
ORPHA:1918 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency, Abnormal abdomen morphology |
OMIM:105120 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Euthyroid goiter, Nephritis |
ORPHA:3327 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, H... |
OMIM:300048 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,... |
ORPHA:186 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ascites, Micropenis |
OMIM:602361 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Decreased fetal movement, Polyhydramnios, Cryptorchidism |
ORPHA:319332 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect |
ORPHA:254351 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchi... |
OMIM:214100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proxima... |
OMIM:212065 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Cholestasis, Abnormality of th... |
OMIM:609015 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Hydron... |
OMIM:613390 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
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 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Decreased fetal movement, Dilated cardiomyopathy, Polyhydramnios |
OMIM:161800 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Raynaud phenomenon, He... |
ORPHA:93552 |
Acrocephalopolydactyly |
|
Abnormal renal morphology, Protuberant abdomen |
ORPHA:221054 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Polyhydramnios |
ORPHA:261272 |
Radiculoneuropathy, Fatal Neonatal |
|
Polyhydramnios |
OMIM:266250 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E... |
ORPHA:2394 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly |
OMIM:608971 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain |
ORPHA:168816 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne... |
OMIM:113650 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... |
ORPHA:2970 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, Anasarca, Pleural e... |
OMIM:618183 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca... |
OMIM:230500 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
White Forelock With Malformations |
|
Atrial septal defect |
OMIM:277740 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Atrial s... |
ORPHA:93274 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Miller-Dieker Syndrome |
|
Nephropathy, Polyhydramnios |
ORPHA:531 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Dilatation of the renal pelvis, Horseshoe ki... |
ORPHA:314588 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Renal insufficiency, Recurrent respirator... |
ORPHA:397715 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardiac arrest, Fetal p... |
OMIM:620167 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi... |
ORPHA:261265 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... |
OMIM:194380 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Parathyroid ... |
ORPHA:2237 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Left Isomerism, Pulmonary artery atresia, Situs inversus... |
OMIM:619702 |
Variant Abeta2M Amyloidosis |
|
Hepatic amyloidosis, Abnormal salivary gland morphology, Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Premature birth, Hypo... |
ORPHA:887 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu... |
ORPHA:77261 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal pigmentation, Jau... |
OMIM:208085 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hepatitis... |
ORPHA:584 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... |
ORPHA:699 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Low plasma citrulline, Renal steatosis, Elevated circulating alanine ami... |
OMIM:261680 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... |
ORPHA:199241 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Elevated urine acetoacetic acid level, 3-Methylglutaconic a... |
OMIM:620089 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios |
OMIM:241850 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Polyhydramnios, Dehydration |
OMIM:616069 |
Ciliary Dyskinesia, Primary, 23 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis |
OMIM:615451 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Polyhydramnios |
OMIM:240900 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn... |
ORPHA:261290 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase... |
OMIM:615559 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Hyperthreoninemia, Hepatomegaly |
OMIM:204000 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Pontocerebellar Hypoplasia, Type 4 |
|
Polyhydramnios |
OMIM:225753 |
Meckel Syndrome 14 |
|
Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis |
ORPHA:182050 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Polyhydramnios |
OMIM:619971 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Nephro... |
OMIM:616026 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Polyhydramnios, Micropenis, Hydrocele testis, Neonatal death, Hypertrophic cardiomy... |
OMIM:618810 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, In... |
ORPHA:90321 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Hyperuricem... |
ORPHA:469 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... |
OMIM:617022 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly |
OMIM:269840 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis |
OMIM:240300 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism, Polyhydramnios |
OMIM:615633 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Anencephaly, Hydrops fetalis, Polycystic kidney dysplasia, Atrial septal defect, ... |
OMIM:616546 |
Methimazole Embryofetopathy |
|
Hypospadias, Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts, Polyhydramnios |
OMIM:618548 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... |
ORPHA:2257 |
Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Edema |
ORPHA:1423 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, He... |
ORPHA:156 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Feingold Syndrome 1 |
|
Accessory spleen, Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhy... |
OMIM:164280 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm... |
ORPHA:185 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Fetal polyuria, Global glomerulosclerosis, Premature birth, Renal insufficiency... |
OMIM:602522 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Polyhydramnios, Abnorma... |
ORPHA:2547 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Abnormal renal collecting system morphology, Hyperechogenic kidneys, Polyhydramnios, Echogenic fe... |
OMIM:616809 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:618224 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease |
ORPHA:79147 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Azoospermia, Increased ... |
OMIM:602390 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Polyhydramnios, Cryptorchidism, Abnormality of th... |
ORPHA:3376 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Increased nuchal translucency, Abnormality of the kidney, Polyhydramnios |
ORPHA:2655 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Oligohydramnios |
OMIM:274265 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten... |
ORPHA:2241 |
Meckel Syndrome, Type 10 |
|
Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Decreased fetal movement, Hypospadias, Polyhydramnios |
OMIM:619334 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly |
OMIM:607685 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... |
OMIM:251290 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am... |
ORPHA:213 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea |
ORPHA:103910 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf... |
ORPHA:51890 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Immunodeficiency, Common Variable, 13 |
|
Fetal distress, Polyhydramnios |
OMIM:616873 |
Congenital Myopathy 14 |
|
Decreased fetal movement, Polyhydramnios |
OMIM:618414 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Nausea, Abdominal pain, Abdominal distention, Diarrhea, Increased urinary porphobilinogen, Consti... |
ORPHA:100924 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... |
ORPHA:139466 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca... |
ORPHA:254864 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Noonan Syndrome 5 |
|
Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Arrhythmia, Atrial septal defect, Hypertrophic... |
OMIM:611553 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:263520 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Nausea and vomiting, Renal dysplasia, Urinary bladder inflammation, Abdominal... |
ORPHA:79403 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Single umbilical artery, Patent... |
OMIM:618027 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Decreased fetal movement, Bundle branch block, Premature birth, Polyhydramnios, First degree atri... |
ORPHA:589821 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Pontocerebellar Hypoplasia, Type 12 |
|
Polyhydramnios |
OMIM:618266 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
Freeman-Sheldon Syndrome |
|
Cryptorchidism, Prenatal movement abnormality, Polyhydramnios, Oligohydramnios |
ORPHA:2053 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Cholestasis |
OMIM:609060 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Achondrogenesis, Type Ii |
|
Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... |
ORPHA:97362 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly |
OMIM:613011 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neoplasm, Enlarged polycystic ov... |
ORPHA:2869 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,... |
ORPHA:552 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria |
OMIM:604273 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Noonan Syndrome 6 |
|
Polyhydramnios, Edema, Cryptorchidism, Single umbilical artery, Pulmonic stenosis, Hypertrophic c... |
OMIM:613224 |
Poland Syndrome |
|
Dextrocardia |
OMIM:173800 |
Congenital Myopathy 15 |
|
Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios |
OMIM:620161 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:500009 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Axial Mesodermal Dysplasia Spectrum |
|
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tr... |
ORPHA:1834 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Childhood-Onset Nemaline Myopathy |
|
Breech presentation, Cardiomyopathy, Polyhydramnios, Fetal akinesia sequence |
ORPHA:171439 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Hypocalcemia |
ORPHA:100025 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Splenomegaly, Pulmonic ... |
OMIM:608149 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Premature birth, Proteinuria, Unilateral renal agenesis, Sec... |
ORPHA:2260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Abno... |
ORPHA:440713 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios |
ORPHA:1203 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... |
ORPHA:284426 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios |
ORPHA:1226 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Nephroblastoma |
ORPHA:2849 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... |
ORPHA:298 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Polyhydramnios |
ORPHA:521390 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase |
OMIM:246900 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Polyhydramnios |
OMIM:617967 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, S... |
ORPHA:781 |
H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Azoospermia, Micropenis, Dec... |
ORPHA:168569 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Patent ductus arteriosus, Pituitary adenoma, Biliary a... |
ORPHA:96149 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonic stenosi... |
OMIM:610733 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
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 |
X-Linked Centronuclear Myopathy |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Low APGAR score |
ORPHA:596 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diaminoaciduria, Portal fibros... |
OMIM:207800 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic bi... |
ORPHA:1296 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
Johanson-Blizzard Syndrome |
|
Dextrocardia, Edema, Malabsorption, Anteriorly placed anus, Abnormal cardiac septum morphology, A... |
ORPHA:2315 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Splenic c... |
OMIM:618188 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Alg8-Cdg |
|
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios |
ORPHA:79325 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney... |
ORPHA:447 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Horseshoe kidney, Vesic... |
OMIM:612562 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux, Atrial septal defect... |
OMIM:616854 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia |
OMIM:615994 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Elevated ... |
ORPHA:488618 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met... |
OMIM:246450 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
Myotonic Dystrophy 1 |
|
Decreased fetal movement, Atrial flutter, Atrial fibrillation, First degree atrioventricular bloc... |
OMIM:160900 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Situs inversus totalis, Anal stenosis, Ectopic anus, Dextrocardia |
OMIM:613686 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:610539 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Atrioventricular canal defect, Congenitally corrected tra... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis |
OMIM:613193 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy... |
OMIM:235555 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death... |
OMIM:236500 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ne... |
ORPHA:505248 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong... |
ORPHA:1880 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst |
OMIM:213300 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Polyhydramnios |
ORPHA:1150 |
Myotubular Myopathy With Abnormal Genital Development |
|
Decreased fetal movement, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilateral crypt... |
OMIM:300219 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepa... |
ORPHA:231226 |
Mednik Syndrome |
|
Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen... |
OMIM:609313 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, ... |
OMIM:235255 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Hydrops fetalis |
OMIM:616738 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615504 |
Marden-Walker Syndrome |
|
Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi... |
OMIM:248700 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Premature birth, Polyhydramnios, Splenomegaly, Reduced renal corticomedullary diffe... |
OMIM:618541 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Neonatal death, Pe... |
OMIM:601186 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... |
ORPHA:445038 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615505 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, ... |
OMIM:232240 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Nonimmune hydrops fetalis, Epistaxis, Lymphedema, High-output congestive hear... |
ORPHA:137667 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar... |
OMIM:227810 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Do... |
OMIM:220210 |
Verheij Syndrome |
|
Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Cleft palate, Growth delay, Intraute... |
OMIM:615583 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Nonimmu... |
OMIM:617667 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Hepatic fibrosis |
OMIM:613989 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice... |
ORPHA:231214 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Premature birth, Splenomegaly, Paten... |
ORPHA:354 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ... |
OMIM:253220 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Polyhydramnios, Cryptorchidism, Glandular hypospadias, Micropenis, Penile hypospadias, Penoscrota... |
ORPHA:456328 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Hepatoblastoma, Elevated circulating alpha-fetoprotein concen... |
ORPHA:116 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... |
OMIM:617049 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis |
OMIM:615985 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure |
ORPHA:75233 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Ventricular septal hypertr... |
OMIM:615280 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Hepatomegaly |
OMIM:133180 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Edema, Minimal change glomer... |
OMIM:618348 |
Ciliary Dyskinesia, Primary, 35 |
|
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis |
OMIM:617092 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrops fetalis, Abnormal heart morphology, Single umbilical arter... |
ORPHA:1865 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, H... |
ORPHA:2470 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Edema, Micropenis |
OMIM:617822 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites |
ORPHA:2198 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g... |
OMIM:607823 |
Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Recurrent sinusitis |
OMIM:612518 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Rena... |
OMIM:616733 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Polyhydramnios |
OMIM:618829 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... |
OMIM:617478 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis |
ORPHA:848 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... |
OMIM:610198 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Decreased fetal movement, Ventricular septal defect |
OMIM:619717 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc... |
OMIM:238970 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o... |
ORPHA:333 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Lymphangiectasia, Intestinal |
|
Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia |
OMIM:152800 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased nuchal translucen... |
OMIM:618494 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Micropenis, Patent foramen ovale |
OMIM:619189 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Hypospadias, Polyhydramnio... |
OMIM:301056 |
Seckel Syndrome 9 |
|
Decreased fetal movement, Recurrent urinary tract infections, Ventricular septal defect, Polyhydr... |
OMIM:616777 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly |
OMIM:618852 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal loc... |
ORPHA:83473 |
Galactokinase Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Increased level of gal... |
ORPHA:79237 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... |
OMIM:153400 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Bronchogenic Cyst |
|
Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal... |
ORPHA:2357 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Abnormality of the liver, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:88618 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hepatomegaly |
OMIM:615010 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,... |
ORPHA:261197 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Decreased fetal movement, Ventricular septal defect, Cryptorchidism |
OMIM:616816 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... |
OMIM:614455 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Secretory diarrhea, Abdominal distention, Renal duplication |
OMIM:270420 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormality of the kidney, Cryptorchidism, Hyperammonemia, 3-Methylglu... |
ORPHA:1194 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Vesicoureteral refl... |
OMIM:617219 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate... |
OMIM:611881 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys... |
OMIM:606232 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites, Increase... |
ORPHA:2905 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali... |
ORPHA:223 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:619155 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen |
ORPHA:226313 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Ciliary Dyskinesia, Primary, 24 |
|
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis |
OMIM:615481 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Abnormality of the kidney, Biliary tract abnormality, Hepatic fibrosis... |
OMIM:209900 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites |
ORPHA:858 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Hematuria, Pan... |
ORPHA:549 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating porphyrin c... |
ORPHA:79473 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Hepatomegaly |
ORPHA:56425 |
Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abdominal distention, Aplasia of the bladder, Vomiti... |
ORPHA:158684 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis |
OMIM:618265 |
Ovarian Fibroma |
|
Abdominal distention, Abdominal pain |
ORPHA:314473 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Placental abruption, Crypt... |
OMIM:603467 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Hypoplastic heart, Edema, Fetal akinesia sequence |
OMIM:312150 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Lymphedema |
OMIM:223350 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis |
OMIM:202650 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Renal insufficiency, Testicular seminoma, Unilateral renal agenesis |
ORPHA:281090 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hepatomegaly, Glomerulonephritis |
OMIM:619375 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Splenomegaly, Abnormal r... |
ORPHA:1655 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, L-2-hydroxyglutaric aciduria, In... |
OMIM:615182 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Lymphedema, Chylopericardium... |
ORPHA:538 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubi... |
OMIM:614886 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Asplenia, Peripheral pulmonary vessel aplasia, Urethral atresia, Single umbilical... |
OMIM:273395 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct... |
OMIM:620005 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal... |
ORPHA:14 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Hepatomegaly, Recurrent urinary tract infections |
OMIM:618495 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:269250 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Aminoaciduria,... |
OMIM:249270 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Edema, Splenomegaly, Anencephaly, Renal ... |
OMIM:269860 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-... |
ORPHA:3261 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Czeizel-Losonci Syndrome |
|
Tracheoesophageal fistula, Pulmonary hypoplasia, High palate, Dextrocardia |
ORPHA:2437 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:610333 |
Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis |
OMIM:614017 |
Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Edema, Cardiomegaly, Fetal distress, Hydrops fetalis, Nephrocalcinosis, Pericardi... |
ORPHA:51608 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Beta-aminoisobutyric aciduria, Polyhydramnios |
OMIM:615330 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... |
ORPHA:508 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi... |
ORPHA:347 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Abdominal distention |
ORPHA:3010 |
Myopathy, Centronuclear, X-Linked |
|
Low 5-minute APGAR score, Decreased fetal movement, Premature birth, Polyhydramnios, Cryptorchidi... |
OMIM:310400 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra... |
OMIM:612946 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm... |
ORPHA:1926 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Recurrent urinary tract infections |
OMIM:620210 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Increased nuchal translucency, Unilateral cryptorchidism, Polyhydramnios |
OMIM:618862 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia |
ORPHA:254913 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Panacinar emphysema, Bronchiectasis, Gastric varix, Chronic bronchitis |
OMIM:613490 |
Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
Renal Agenesis |
|
Renal insufficiency, Proteinuria, Renal agenesis, Ventricular septal defect, Unilateral renal age... |
ORPHA:411709 |
Mgat2-Cdg |
|
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Hypoplastic nipples, Refle... |
ORPHA:79329 |
Costello Syndrome |
|
Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Mitral val... |
ORPHA:3071 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Abnormal renal corticomedullary... |
OMIM:617397 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure |
OMIM:613489 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Ichthyosis Prematurity Syndrome |
|
Caseous vernix-like desquamation, Premature birth, Polyhydramnios |
OMIM:608649 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Ja... |
ORPHA:79282 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Hypoplastic heart, Edema, Fetal akinesia sequence |
OMIM:253290 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... |
OMIM:614872 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Polyhydramnios, Lymphedema |
OMIM:618154 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Hennekam Syndrome |
|
Lymphopenia, Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Ec... |
ORPHA:2136 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Nephropathy, Nephroblastoma |
OMIM:194072 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Edema, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hepatitis, Hema... |
OMIM:615846 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:615273 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Polyhydramnios |
OMIM:614306 |
Acute Intermittent Porphyria |
|
Dark urine, Nausea and vomiting, Renal insufficiency, Dysuria, Urinary incontinence, Abdominal pa... |
ORPHA:79276 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux |
ORPHA:228399 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Fetal polyuria, Premature birth, Polyuria, Polyhydramnios, Hypercalciuria, Medullary nephrocalcin... |
OMIM:300971 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Increased nuchal translucency, Abnormality of the kidney, Polyhydramnios |
ORPHA:1860 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypopla... |
ORPHA:83617 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid... |
ORPHA:411543 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excretion, Aspirat... |
ORPHA:79255 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Polyhydramnios, Hypercalciuria, Nephrocalcinosis, Intracranial hemo... |
OMIM:241500 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Renpenning Syndrome |
|
Heterotaxy, Cleft palate, High, narrow palate, Anal atresia |
ORPHA:3242 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Severe Congenital Nemaline Myopathy |
|
Decreased fetal movement, Premature birth, Hypospadias, Polyhydramnios, Edema of the dorsum of ha... |
ORPHA:171430 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Thanatophoric Dysplasia, Type Ii |
|
Neonatal death, Decreased fetal movement, Polyhydramnios |
OMIM:187601 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Fibrochondrogenesis 1 |
|
Stillbirth, Patent foramen ovale, Hydrops fetalis |
OMIM:228520 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
ORPHA:2255 |
Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis |
OMIM:612444 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased fetal movement, Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios |
OMIM:615368 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect, Hypospadias |
OMIM:618330 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Nephropathy |
ORPHA:575 |
Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis |
OMIM:614874 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increased nuchal tran... |
OMIM:605275 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hepatitis, Tubulointer... |
ORPHA:139402 |
Pancreatic Colipase Deficiency |
|
Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Elevated circulating creatine kinase concentration |
ORPHA:565899 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Abnormal heart morphology, Atrial sept... |
ORPHA:401935 |
Lethal Kniest-Like Dysplasia |
|
Atrial septal defect, Breech presentation, Polyhydramnios, Edema |
ORPHA:2347 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve... |
ORPHA:261222 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux |
OMIM:619881 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... |
OMIM:239200 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:615500 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect, Fetal pyelectasis |
OMIM:301058 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria... |
OMIM:618652 |
Nemaline Myopathy 2 |
|
Decreased fetal movement, Polyhydramnios |
OMIM:256030 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Consti... |
ORPHA:95427 |
Emanuel Syndrome |
|
Thickened nuchal skin fold, Decreased fetal movement, Recurrent urinary tract infections, Truncus... |
OMIM:609029 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Vesicoureteral reflux, Mitral regurgitation, ... |
OMIM:615879 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt... |
OMIM:617575 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Mogs-Cdg |
|
Hepatomegaly, Generalized edema, Polyhydramnios, Cardiomegaly, Edema, Hepatosplenomegaly, Hydroce... |
ORPHA:79330 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Single umbilical artery, Hypoplas... |
ORPHA:2772 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:615704 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, S... |
OMIM:617635 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Breech p... |
OMIM:300868 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Hypotension, Atrial septal defect, Pate... |
OMIM:615668 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly |
ORPHA:66661 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L... |
OMIM:124000 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly... |
ORPHA:79101 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Ectopic kidney |
ORPHA:268249 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers... |
ORPHA:991 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Short stature, Aganglionic megacolon, Renal hyp... |
ORPHA:2473 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:212138 |
Lead Poisoning |
|
Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease, Renal tubular dysfunction... |
ORPHA:330015 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Decreased circulating free fatty acid level, Diffuse pancreatic islet hyperplasia, ... |
ORPHA:276575 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ... |
OMIM:217095 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Polyhydramnios |
ORPHA:2774 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidis... |
ORPHA:363528 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:615631 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short stature, Cryptorchidism, Abnormal vena cava morphology, Horseshoe kidney, Renal cyst, Intra... |
ORPHA:166035 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Galactosialidosis |
|
Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:99880 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ... |
ORPHA:97214 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Fetal polyuria, Renal insufficiency, Premature birth, Polyuria, Polyhydramnios,... |
OMIM:613090 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Renal amyloidosis, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Decreased fetal movement, Spina bifida occulta, Subdural hemorrhage, Polyhydramnios |
OMIM:618291 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Diffuse pancreatic islet hyperplasia, Hepatomegaly, ... |
ORPHA:276556 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention |
ORPHA:1876 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Hematochezia, Hypoplasia of the thymus, Congenital pul... |
OMIM:243150 |
Rhyns Syndrome |
|
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... |
OMIM:602152 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency |
OMIM:612714 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency |
ORPHA:83313 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Thanatophoric Dysplasia, Type I |
|
Champagne cork sign, 1-minute APGAR score of 1, Decreased fetal movement, Polyhydramnios, Breech ... |
OMIM:187600 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... |
OMIM:608647 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentra... |
OMIM:608104 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... |
OMIM:614935 |
Allan-Herndon-Dudley Syndrome |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Cryptorchidism, Prolonged neonatal jau... |
ORPHA:59 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis |
OMIM:613870 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Polyhydramnios, Edema, Cryptorchidism, Micropenis, Patent foramen ovale |
OMIM:607143 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Double outlet... |
OMIM:179613 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:143 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:136680 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Renal hy... |
ORPHA:567 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Dextrocardia |
OMIM:618929 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Hydronephrosis, Micropenis, Decreased testicular size |
OMIM:619185 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Duplicated collecting system, Hepatocellular carcinoma, Multiple s... |
OMIM:118450 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, Reduced pancreatic beta cells |
OMIM:226980 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Abnormal renal morphology, Sing... |
ORPHA:329224 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Hypoplasia of penis, Polyhydramnios |
ORPHA:990 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Nephrocalcinosis, Polyhydramnios |
OMIM:618005 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Ventricular septal defect, Premature birth, Polyhydramnios, Bilateral cryptorchidism... |
OMIM:300998 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Coronal hypospadias, Cryptorchidism, Abnormal localization of kidney, Atrial septal ... |
ORPHA:921 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Polyhydramnios |
OMIM:616920 |
Ciliary Dyskinesia, Primary, 32 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:616481 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Polyhydramnios |
OMIM:617360 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism |
OMIM:618107 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, Jaundice, Micr... |
OMIM:300855 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Polyhydramnios, Unilateral renal ag... |
ORPHA:464311 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hepatic ste... |
ORPHA:2348 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Renal insufficiency, Cholestasis |
ORPHA:293173 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Decreased fetal movement, Polyhydramnios |
OMIM:618186 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Abnormality of the ureter |
ORPHA:1035 |
Pleural Mesothelioma |
|
Hepatomegaly |
ORPHA:50251 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi... |
ORPHA:324525 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Polyhydramnios, Right ventricular hypertrophy |
OMIM:612949 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension |
OMIM:300887 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... |
OMIM:618142 |
Megalencephaly |
|
Atrial septal defect, Long penis, Macroorchidism |
ORPHA:2477 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Enlarged l... |
ORPHA:449432 |
Fryns Syndrome |
|
Thickened nuchal skin fold, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchi... |
ORPHA:2059 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Amniotic constriction ring, Polyhydramnios |
ORPHA:1486 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Nephropathy, Renal insufficiency |
OMIM:247410 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Mitral valve prolapse, Pulmonic stenos... |
OMIM:609942 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Vesicoureteral reflux, Hyperecho... |
OMIM:605039 |
Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Hypergl... |
OMIM:606054 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Atrial septal defect, Umbilical hernia, Cryptorchidism, Abnormal heart morphology |
ORPHA:352490 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Pseudoaminopterin Syndrome |
|
Asplenia, Cryptorchidism, Patent foramen ovale, Horseshoe kidney |
ORPHA:221120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Castleman Disease |
|
Renal insufficiency, Abdominal mass, Elevated circulating C-reactive protein concentration, Jaund... |
ORPHA:160 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida |
ORPHA:2476 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, In... |
ORPHA:73246 |
Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
Ciliary Dyskinesia, Primary, 12 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis |
OMIM:612650 |
Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly |
OMIM:252900 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... |
OMIM:200980 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Polycystic kidney dysplasia |
OMIM:102500 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopo... |
OMIM:618440 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ... |
OMIM:146255 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... |
ORPHA:369929 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,... |
ORPHA:542323 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly |
OMIM:615085 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Crypto... |
ORPHA:2166 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Supernumerary nipple, Crypt... |
ORPHA:261494 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Fetal pyelectasis, Palpebral edema, Polyhydramnios |
ORPHA:50810 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Polyhydramnios, Bladder trabeculation... |
OMIM:614080 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Hypergly... |
OMIM:251110 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Dextrocardia, Tracheoesophageal fistula, High palate, Atrial septal defect, Glossitis |
OMIM:277380 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Hepatic failur... |
ORPHA:912 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ... |
ORPHA:363444 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Decreased fetal movement, Premature birth, Secundum atrial septal defect, Congestive heart failur... |
OMIM:616866 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Abdominal distention, Hydroureter, Megacystis |
ORPHA:2604 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
Thyroid Hypoplasia |
|
Abdominal distention, Constipation |
ORPHA:95720 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Autosomal Dominant Centronuclear Myopathy |
|
Decreased fetal movement, Urinary incontinence, Polyhydramnios, Cryptorchidism |
ORPHA:169189 |
Scrub Typhus |
|
Splenomegaly, Renal insufficiency |
ORPHA:83317 |
Ovarian Fibrothecoma |
|
Abdominal distention, Abdominal pain |
ORPHA:314478 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Truncus arteriosus, Intestinal malrotation, Renal age... |
ORPHA:2538 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly |
OMIM:231000 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice |
ORPHA:79477 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Cirrhosi... |
ORPHA:79086 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene... |
OMIM:617666 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef... |
ORPHA:2461 |
Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Renal agenesis, Rectal fistula, Patent duct... |
OMIM:115470 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Hyperammonemia |
OMIM:610678 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Ascites, Cirrhosis, Portal hypertension |
ORPHA:974 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal dysplasia |
ORPHA:85321 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ... |
OMIM:619167 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:93476 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Absent gallbladder, Ventricular septal defect... |
OMIM:600001 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch... |
OMIM:613808 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Bundle branch block, Polyhydramnios, Hepatoblastoma, A... |
ORPHA:373 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the ureter |
ORPHA:1133 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia |
ORPHA:927 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol |
OMIM:229700 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis |
OMIM:614602 |
Congenital Myopathy 12 |
|
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal akinesia sequence |
OMIM:612540 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... |
OMIM:146510 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Coronal hypospadias, Bilateral cryptorchidism, Polyhydramnios |
OMIM:619859 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Cleft palate |
ORPHA:220493 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:612561 |
Hydrolethalus |
|
Anencephaly, Cryptorchidism, Premature birth, Polyhydramnios |
ORPHA:2189 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Peri... |
OMIM:249100 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... |
ORPHA:3027 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Generalized edema, Hydroureter, Fetal megacystis, Oligohydramnios |
OMIM:249210 |
Atelosteogenesis Type I |
|
Rhizomelia, Malrotation of colon, Cleft palate, Neonatal short-trunk short stature, Multiple rena... |
ORPHA:1190 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Peripheral arteriovenous fistula, Transient ischemic attack, Portal hyperte... |
ORPHA:774 |
Schnitzler Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:37748 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Congenital Rubella Syndrome |
|
Splenomegaly, Hepatomegaly, Patent ductus arteriosus, Jaundice |
ORPHA:290 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Premature birth, Polyhydramnios |
ORPHA:2759 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Polyhydramnios |
ORPHA:1790 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary ad... |
ORPHA:97289 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydramnios, Intrahepatic choles... |
OMIM:606812 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H... |
ORPHA:79083 |
Congenital Myopathy 22A, Classic |
|
Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Breech presentation, Bradycard... |
OMIM:620351 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Stage 5 chronic kidney dise... |
ORPHA:1830 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Oliguria, Enterocolitis, Functional... |
ORPHA:90051 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Decreased fetal movement, Polyhydramnios, Edema, Cryptorchidism, Micropenis |
ORPHA:98905 |
Currarino Syndrome |
|
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Gastrointestinal ob... |
OMIM:176450 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis... |
OMIM:620366 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... |
OMIM:170100 |
Colonic Atresia |
|
Abdominal distention |
ORPHA:1198 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormal l... |
ORPHA:141127 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Floating-Harbor Syndrome |
|
Celiac disease, Tetralogy of Fallot, Gastroesophageal reflux, Atrial septal defect, Mesocardia |
ORPHA:2044 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Braddock-Carey Syndrome 1 |
|
Growth delay, Multicystic kidney dysplasia, Anteriorly placed anus, Cleft palate |
OMIM:619980 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Congenital pul... |
OMIM:611812 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly |
OMIM:240500 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Emanuel Syndrome |
|
Decreased fetal movement, Truncus arteriosus, Ventricular septal defect, Premature birth, Unilate... |
ORPHA:96170 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Mucopolysacchariduria |
ORPHA:93474 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Peritonitis, Oliguria, Hematuria, Pancreatitis |
ORPHA:727 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Polyhydr... |
OMIM:229850 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Xerostomia, Hepati... |
ORPHA:227982 |
Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Celiac disease |
OMIM:136140 |
Alagille Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Cholestasis, N... |
ORPHA:52 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate, Intrauterine growth retar... |
ORPHA:2115 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hepatomegaly |
OMIM:614470 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Hepatitis, Biliary cirrhosis, Anterio... |
ORPHA:227990 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Elevated circu... |
OMIM:615381 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... |
ORPHA:416 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis... |
ORPHA:49 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Supraventricular arrhythmia, Elevated circulating growth hormone concen... |
ORPHA:91347 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Atrial septal ... |
OMIM:618870 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Polyhydramnios, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, H... |
OMIM:619745 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Gastroesophageal reflux, Feeding difficulties |
OMIM:620275 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Perlman Syndrome |
|
Nephrogenic rest, Renal hamartoma, Polyhydramnios, Edema, Cryptorchidism, Nephroblastomatosis, Pa... |
OMIM:267000 |
3C Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Si... |
ORPHA:7 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalan... |
ORPHA:348 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency... |
ORPHA:1052 |
Refsum Disease |
|
Splenomegaly, Renal insufficiency |
ORPHA:773 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... |
OMIM:251100 |
Chédiak-Higashi Syndrome |
|
Epistaxis, Edema, Pericardial effusion, Splenomegaly, Jaundice, Hepatosplenomegaly, Pleural effusion |
ORPHA:167 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Methylmalonic aciduria, Atrial septal defect, Pulmonary arterial hypertension, Ho... |
OMIM:614857 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Urinary incontinence, Polyhydramnios, Fetal akinesia sequence |
OMIM:301041 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thickened nuchal skin fold, Increased urine alpha-ketoglutarate concentration, Ventricular septal... |
OMIM:220500 |
Analbuminemia |
|
Hypotension, Edema, Oligohydramnios |
OMIM:616000 |
Diets-Jongmans Syndrome |
|
Hypospadias, Ventricular septal defect, Polyhydramnios, Breech presentation, Cryptorchidism, Umbi... |
OMIM:618846 |
Chitayat Syndrome |
|
Polyhydramnios |
OMIM:617180 |
Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Adrenocorticotropic hormone excess |
OMIM:609981 |
Omenn Syndrome |
|
Splenomegaly, Nephrotic syndrome, Hepatomegaly |
ORPHA:39041 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia |
OMIM:314300 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Hepatomegaly, Splenomegaly |
ORPHA:53715 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Breech present... |
OMIM:620369 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Hypoalbuminemia, Ascites |
OMIM:610965 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting |
ORPHA:92050 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Haddad Syndrome |
|
Decreased fetal movement, Polyhydramnios, Oligohydramnios |
ORPHA:99803 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Premature birth, Polyhydramnios |
OMIM:225790 |
3-Methylglutaconic Aciduria, Type Viib |
|
Decreased fetal movement, Polyhydramnios, Congestive heart failure, Dehydration, 3-Methylglutacon... |
OMIM:616271 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Cryptorchidism, Mitral valve prolapse |
ORPHA:536532 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Splenomegaly |
ORPHA:507 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased n... |
ORPHA:3472 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Hypoplasia of the thymus |
OMIM:300400 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa... |
OMIM:308240 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly |
ORPHA:99931 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Hepatomegaly |
OMIM:231670 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration |
ORPHA:85414 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Abnormality of the liver |
ORPHA:33276 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting |
ORPHA:71 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul... |
OMIM:614527 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Cr... |
OMIM:607721 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Tarp Syndrome |
|
Subdural hemorrhage, Horseshoe kidney, Premature rupture of membranes, Neonatal death, Atrial sep... |
OMIM:311900 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... |
ORPHA:435660 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplastic left heart, Aortic valve ... |
OMIM:617660 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, In... |
ORPHA:465508 |
Niemann-Pick Disease, Type A |
|
Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen |
OMIM:257200 |
Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Vomiting, Bloody diarrhea |
ORPHA:391673 |
Isolated Cleft Lip |
|
Situs inversus totalis, Umbilical hernia, Polyhydramnios |
ORPHA:199302 |
Bachmann-Bupp Syndrome |
|
Decreased fetal movement, Polyhydramnios, Cryptorchidism |
OMIM:619075 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Abnormality of the anterior pituitary, Renal hypoplasia, Posterior pit... |
ORPHA:75389 |
Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Short stature, Hypospadias, Nephroblastoma, Postnatal growth retard... |
OMIM:257300 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Breech presentation, Micropenis, Polyhydramnios, Cryptorchidism |
OMIM:619847 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:617744 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis |
OMIM:615434 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Micropenis, Polyhydramnios |
OMIM:619761 |
Majeed Syndrome |
|
Glomerulopathy, Hepatomegaly, Proteinuria, Splenomegaly, Microscopic hematuria |
ORPHA:77297 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Ventricular septal defect, Hypospadias, Parachute mitral valve, Cryptorchidism, ... |
OMIM:618316 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... |
OMIM:251900 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... |
OMIM:175200 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Abnormality of the kidney, Visceromegaly, Hepatosplenomegaly |
ORPHA:93399 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas... |
ORPHA:263665 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Arthrogryposis, Distal, Type 2A |
|
Decreased fetal movement, Polyhydramnios, Breech presentation, Cryptorchidism, Spina bifida occul... |
OMIM:193700 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:98848 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Pericardial effusion, Cryptorchidism, Breast hypoplasia |
ORPHA:1272 |
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 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly |
ORPHA:50812 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:158029 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:619149 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Increas... |
OMIM:243800 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Fetal Akinesia Deformation Sequence |
|
Cryptorchidism, Polyhydramnios, Fetal akinesia sequence |
ORPHA:994 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
4-hydroxyphenylacetic aciduria, Polyhydramnios, Congestive heart failure, Microvesicular hepatic ... |
OMIM:617156 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Abdominal distention, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hypere... |
OMIM:619351 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Hepatitis, Intestinal atresia, Hypoplasia of the thymus, Rectal abscess, ... |
ORPHA:436252 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula, Abnormal cardiac ... |
OMIM:614294 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Hypercholesterolemia, Hepatic ... |
ORPHA:528 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Mitral... |
OMIM:616564 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Prolonged neonatal jaundice, Polycystic kidney dysp... |
OMIM:210710 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, ... |
ORPHA:1120 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Stage 5 ... |
OMIM:222700 |
Joubert Syndrome 14 |
|
Growth delay, Renal cyst, Intracranial hemorrhage, Cleft palate |
OMIM:614424 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal renal ... |
OMIM:609053 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Renal insufficiency |
ORPHA:33226 |
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 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Thromb... |
OMIM:617053 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Umbilical hernia, ... |
OMIM:616028 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Hypertension, Atrial septal defe... |
OMIM:139210 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly |
OMIM:620296 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Hyperechogenic kidneys, Bilateral renal hypoplasia, Exocrine pancreatic insufficiency |
OMIM:619695 |
Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Patent foramen ovale, Hydronephr... |
OMIM:618950 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Ventricular septal defect, Renal agenesis, Polyhydramnios, Fetal akines... |
OMIM:256520 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lipid concentration |
ORPHA:381 |
8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology |
ORPHA:96092 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly |
OMIM:252930 |
Neu-Laxova Syndrome 2 |
|
Decreased fetal movement, Polyhydramnios, Spina bifida, Edema |
OMIM:616038 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Abnormal heart mor... |
ORPHA:500159 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Decreased fetal movement, Absence of renal corticomedullary differentiation, Secundum atrial sept... |
OMIM:619758 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Decreased testicular size, Multicystic kidney dysplasia, Polyhydramnios, Su... |
ORPHA:261349 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Biliary tract abnormality, Cholangitis |
OMIM:209920 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Polyhydramnios |
OMIM:226730 |
Alg12-Cdg |
|
Premature birth, Hypospadias, Polyhydramnios, Edema, Cryptorchidism, Muscular ventricular septal ... |
ORPHA:79324 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly |
OMIM:228000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261552 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatomegaly, Ascites, Hepatosplenomegaly |
OMIM:615122 |
Shigellosis |
|
Hyponatremia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Abnormal blood ion concentratio... |
ORPHA:810 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Hypocholesterolemia |
OMIM:266510 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphyrin concentration,... |
OMIM:263700 |
20Q13.33 Microdeletion Syndrome |
|
Hypospadias, Abnormal cardiac ventricle morphology, Hematochezia, Atrial septal defect, Oligohydr... |
ORPHA:261311 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Fetal polyuria, Hyperparathyroidism, Premature birth, Polyuria, Polyhydramnios,... |
OMIM:601678 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Polyhydramnios |
ORPHA:3301 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261537 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly |
ORPHA:391 |
Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:612840 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Anhydramnios, Hypertension, Bilateral renal agenesis, Renal dysplasia, Oligohydramnios |
OMIM:191830 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly |
OMIM:607594 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Umbilical hernia, Echogenic intrac... |
OMIM:617751 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis |
OMIM:217085 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly |
ORPHA:422 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... |
OMIM:614261 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Right bundle ... |
OMIM:617506 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism |
ORPHA:280062 |
Sialuria |
|
Splenomegaly, Hepatomegaly, Hypoplastic nipples, Increased level of N-acetylneuraminic acid in urine |
OMIM:269921 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Organic aciduria, Hyperammonemia |
OMIM:253260 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten... |
ORPHA:2847 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Roberts Syndrome |
|
Cryptorchidism, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Abnormality of... |
ORPHA:1764 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Premature birth, Splenomegaly |
OMIM:616651 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Cryptorchidism, Single umbilical artery, Abnormal cardiac septum morpholog... |
OMIM:615009 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Abnormal renal morphology, Patent foramen ovale |
OMIM:610883 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Enlarged lacrimal glands, Hypercalciuria, Abnor... |
OMIM:181000 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Urinary incontinence |
ORPHA:309256 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal... |
ORPHA:18 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Spleno... |
OMIM:312870 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hypospadias, Cryptorchidism, Hydrops fetalis, Hypoplastic nipples, Umbi... |
OMIM:265000 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Polyhydramnios |
OMIM:618598 |
Immunodeficiency 32B |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia |
OMIM:226990 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... |
ORPHA:829 |
Snijders Blok-Campeau Syndrome |
|
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:618205 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Cardiofaciocutaneous Syndrome 1 |
|
Premature birth, Polyhydramnios, Splenomegaly, Pulmonic stenosis, Atrial septal defect, Hypertrop... |
OMIM:115150 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Supernumerary nipple, Pyloric stenosis, Abnormal aor... |
ORPHA:1001 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Oli... |
OMIM:100100 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:2152 |
Hurler-Scheie Syndrome |
|
Heparan sulfate excretion in urine, Hepatomegaly, Dermatan sulfate excretion in urine, Splenomegaly |
OMIM:607015 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Hepatomegaly, Polyhydramnios |
ORPHA:329178 |
Unilateral Ocular Duplication |
|
Encephalocele, Polyhydramnios |
ORPHA:3374 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia |
ORPHA:2345 |
Trichohepatoneurodevelopmental Syndrome |
|
Decreased fetal movement, Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnio... |
OMIM:618268 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Codas Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Atrial septal defect, Atrioventricular... |
OMIM:600373 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Atrial septal defect, Sp... |
OMIM:300373 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Ureteral duplication, Premature ... |
OMIM:275210 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of the liver,... |
ORPHA:398124 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, ... |
ORPHA:423 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Organic aciduria |
ORPHA:99742 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Paten... |
OMIM:227646 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia |
ORPHA:2516 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation |
OMIM:612918 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:99413 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:99226 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Nephrotic syndrome, Nephritis, Hepatomegaly |
OMIM:603909 |
Turner Syndrome |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic... |
ORPHA:881 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice |
OMIM:613839 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention |
OMIM:619423 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatomegaly |
OMIM:611490 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Renal cyst, Dehydration, Aplasia/Hypoplasia of the bladder, Ureterocel... |
ORPHA:79404 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal agenesis, High palate, Intrauterine growth ret... |
ORPHA:1297 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Polyhydramnios, Complete atrioventricul... |
OMIM:236680 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Atrial septal defect, Pulmonary ... |
ORPHA:2519 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ... |
ORPHA:3202 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Recurrent upper respirat... |
ORPHA:264450 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Decreased fetal movement, Thymus hyperplasia, Chylothorax, Polyhydramnios |
OMIM:619036 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly |
OMIM:615387 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie... |
ORPHA:1770 |
Gallbladder Neuroendocrine Tumor |
|
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain |
ORPHA:100086 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Polyhydramnios |
OMIM:619833 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea... |
OMIM:167800 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Cryptorchidism |
OMIM:615502 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Large placenta, Umbilical hernia, Hydronephrosis, Polyhydramnios |
ORPHA:254528 |
Noonan Syndrome 13 |
|
Duplicated collecting system, Lymphedema, Cryptorchidism, Mitral valve prolapse, Mitral regurgita... |
OMIM:619087 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:615873 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho... |
ORPHA:646 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Patent ductus arteriosus after premature birth, Renal hypopl... |
OMIM:618460 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency |
OMIM:615986 |
Hypoplastic Left Heart Syndrome |
|
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia |
ORPHA:2248 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Hypospadias, Renal ... |
ORPHA:124 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Decreased liver function, Ureterocele |
OMIM:614863 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged neonatal jaundice |
OMIM:607625 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Polyhydramnios |
ORPHA:500144 |
White Forelock With Malformations |
|
Atrial septal defect, Spina bifida occulta |
ORPHA:2475 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism, Acute kidney injury |
ORPHA:449285 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Azoospermia, Hepatic fibrosis, Chole... |
ORPHA:2072 |
Miller-Dieker Lissencephaly Syndrome |
|
Decreased fetal movement, Polyhydramnios, Cryptorchidism, Abnormal heart morphology, Pelvic kidney |
OMIM:247200 |
Pontocerebellar Hypoplasia, Type 2A |
|
Polyhydramnios |
OMIM:277470 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Polyhydramnios, Ectopic kidney, Renal cyst, Horseshoe kidney, Atrial s... |
OMIM:117650 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Increased nuchal translucency, Fetal distress |
OMIM:620183 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Meningocele, Hydrops fetalis |
ORPHA:2879 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Frontal encephalocele |
ORPHA:521308 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97261 |
King-Denborough Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Br... |
OMIM:619542 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn... |
ORPHA:485405 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain |
ORPHA:370348 |
Thoracoabdominal Syndrome |
|
Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries, Cleft palate |
OMIM:313850 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Lymphedema, Cryptorchidism, Splenomegaly, Hepatosplenomega... |
OMIM:613563 |
Bartter Syndrome Type 4 |
|
Premature birth, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal ... |
ORPHA:89938 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis |
OMIM:617159 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Aortopulmonary window, P... |
OMIM:620025 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy... |
OMIM:134780 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short stature, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, ... |
OMIM:618454 |
Knobloch Syndrome |
|
Pyloric stenosis, Dextrocardia |
ORPHA:1571 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Cryptorchidism, Mitral regurgitation, Ventricular septal defect |
OMIM:301039 |
Down Syndrome |
|
Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri... |
OMIM:190685 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Mucopolysacchariduria |
ORPHA:585 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Ventricular septal defect |
OMIM:602501 |
Degcags Syndrome |
|
Polyhydramnios, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ovale, Hepatomeg... |
OMIM:619488 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Patent foramen ovale |
OMIM:618832 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale |
ORPHA:88630 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab... |
ORPHA:477817 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Cryptorchi... |
ORPHA:263487 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:453499 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:308552 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, Hig... |
ORPHA:3015 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Hyperuricemia, U... |
OMIM:300661 |
Noonan Syndrome 9 |
|
Cryptorchidism, Hydroureter, Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Nephrocalcinosis, Exocrine panc... |
OMIM:260400 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Hepatomegaly, Hydrocele testis, Penile freckling |
OMIM:605309 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protein conce... |
ORPHA:319213 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608779 |
Pontocerebellar Hypoplasia, Type 2B |
|
Polyhydramnios |
OMIM:612389 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Left ventricular hyp... |
OMIM:611209 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect |
OMIM:618354 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Ventricular septal defect, Hypospadias, Heart block, Complete atrioventricula... |
OMIM:617063 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Immunodeficiency 92 |
|
Sclerosing cholangitis, Hepatomegaly, Cholangitis |
OMIM:619652 |
Cranioectodermal Dysplasia 3 |
|
Cirrhosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Renal insufficiency, Mild proteinuria |
OMIM:619147 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Ectopic thyroid, A... |
ORPHA:3047 |
Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Cryptorchidism, Mitral regurgitatio... |
ORPHA:254346 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Oligohydramnios |
OMIM:260370 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst,... |
ORPHA:369837 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Supernumerary nipple, Polyhydramnios |
ORPHA:1812 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Focal... |
OMIM:242900 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Spina bifida, Polyhydramnios, Renal hypoplasia/aplasia, Cryptorchidism, Single um... |
ORPHA:3412 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis, Cryptorchid... |
ORPHA:464306 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Cholelithiasis, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, Pyloric stenosis, H... |
OMIM:122470 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
OMIM:212750 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Patent foramen ovale |
OMIM:618821 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... |
OMIM:603553 |
Letterer-Siwe Disease |
|
Abdominal distention |
OMIM:246400 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Mitral regurgitation, Premature birth, Polyhydramnios |
OMIM:617809 |
Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
OMIM:615236 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Polyhydramnios |
OMIM:151210 |
Bone Dysplasia, Lethal Holmgren Type |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:1842 |
Al-Gazali Syndrome |
|
Hydronephrosis, Polyhydramnios |
OMIM:609465 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology |
ORPHA:79243 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:619769 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Leopard Syndrome 1 |
|
Bundle branch block, Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defe... |
OMIM:151100 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Long penis, Biliary trac... |
OMIM:268300 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Hepatosplenomegaly, U... |
ORPHA:79124 |
Dengue Fever |
|
Hepatomegaly, Ascites, Hypoproteinemia |
ORPHA:99828 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Premature birth, Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythm... |
OMIM:614052 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Premature birth, Polyhydramnios, Dehydration |
OMIM:214700 |
Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal renal tubule morphology |
ORPHA:732 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Predominantly lower limb lymphedema, Epistaxis, Upper eyelid edema |
ORPHA:293939 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accum... |
ORPHA:20 |
Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Ascites, Cirrhosis |
ORPHA:779 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect |
ORPHA:93946 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Adenoma se... |
OMIM:191100 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Absent nipple, Aplasia of the thymus, Polyhydramnios, Echogenic fetal bowel, Hydr... |
OMIM:620186 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cryptorchidism, Heart murmur, Multiple bladder diverticula, Atrial septal defect |
ORPHA:2728 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Clef... |
OMIM:616300 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Urinary incontinence |
ORPHA:309263 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Hypercalciuria, Nephrocalcinosis, Patent foramen ovale, Renal dysplasia |
OMIM:300990 |
Complement Factor I Deficiency |
|
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis |
OMIM:610984 |
Typical Nemaline Myopathy |
|
Polyhydramnios |
ORPHA:171436 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Cryptorchidism, Spina bifida occulta, Transposition of th... |
OMIM:201000 |
Al-Raqad Syndrome |
|
Atrial septal defect |
OMIM:616459 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Proteinuria |
ORPHA:2143 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Ventricular septal defect, Hypospadias, Horseshoe kidney |
OMIM:218350 |
Restrictive Dermopathy |
|
Decreased fetal movement, Ureteral duplication, Premature birth, Dextrocardia, Premature delivery... |
ORPHA:1662 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Protuberant abdomen |
OMIM:617102 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula... |
ORPHA:818 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Atrial septal d... |
OMIM:618109 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... |
OMIM:232300 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Urinary incontinence, Hepatosplenomegaly |
OMIM:268800 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Short stature, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Furrowed tongue... |
OMIM:616975 |
Joubert Syndrome 8 |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prenatal movement abnormality, Cryptorchidism, Amniotic constriction ring, Polyhydramnios |
ORPHA:2215 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Esophageal atresia, Biliary atresia, Growth delay, Anteriorly placed anus |
OMIM:615272 |
Congenital Myopathy 17 |
|
Polyhydramnios, Fetal akinesia sequence, Renal hypoplasia, Ureteropelvic junction obstruction, Hy... |
OMIM:618975 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Polyhydramnios |
ORPHA:86822 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Arthrogryposis Multiplex Congenita 5 |
|
Decreased fetal movement, Cardiac arrest, Polyhydramnios, Umbilical hernia, Medullary nephrocalci... |
OMIM:618947 |
Meningococcal Meningitis |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Protuberant abdomen |
ORPHA:457485 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Premature birth, Hypospadias, Large placenta, Horseshoe kidney, Abnorm... |
ORPHA:1708 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect |
ORPHA:398156 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscro... |
OMIM:270400 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:272440 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hepatomegaly, Mucopolysacchariduria |
OMIM:272200 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Telangiectasia, Atrial septal defect, Umbilical hernia, Tetralogy of F... |
OMIM:612582 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Short stature, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Abdominal distention, Urethral atresia, Hydronephrosis |
OMIM:271520 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Hydronephrosis, Edema |
OMIM:302960 |
Hemorrhagic Fever-Renal Syndrome |
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Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, H... |
ORPHA:340 |
Neurooculorenal Syndrome |
|
Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of... |
OMIM:620305 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... |
ORPHA:1727 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperchloriduria, Fetal polyuria, Premature birth, Polyuria, Polyhydramnios, Renal salt wasting, ... |
OMIM:241200 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Left ventricular hypertrophy, Lipiduria |
OMIM:301500 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exo... |
OMIM:219700 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Inverted Duplicated Chromosome 15 Syndrome |
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Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:3306 |
Feingold Syndrome |
|
Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Hepatomegaly, Polyhydramnios, Splenomegaly, Jaundice, Fetal distress |
OMIM:608885 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Atrial septal defect, Mitral regurgitation, Ventricular septal defect |
OMIM:603387 |
Tuberous Sclerosis 2 |
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Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Ca... |
OMIM:613254 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... |
ORPHA:93271 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Protuberant abdomen |
OMIM:184250 |
Stankiewicz-Isidor Syndrome |
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Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Pineal ... |
OMIM:617516 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Giant Cell Arteritis |
|
Hematuria, Renal insufficiency, Hepatic failure |
ORPHA:397 |
Distal Deletion 15Q |
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Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorch... |
ORPHA:1596 |
Opsismodysplasia |
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Renal phosphate wasting, Polyhydramnios, Edema, Oligohydramnios |
OMIM:258480 |
Toriello-Lacassie-Droste Syndrome |
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Abnormal penis morphology, Hypospadias, Polyhydramnios, Epispadias, Abnormality of the ureter, Ab... |
ORPHA:3339 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
Otospondylomegaepiphyseal Dysplasia |
|
Polyhydramnios |
ORPHA:1427 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Overriding aorta, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Double outlet right ve... |
ORPHA:3304 |
Alternating Hemiplegia Of Childhood |
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Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... |
ORPHA:2131 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Decreased fetal movement, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenc... |
ORPHA:456312 |
Spondyloenchondrodysplasia |
|
Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hepat... |
ORPHA:1855 |
Lamellar Ichthyosis |
|
Renal insufficiency |
ORPHA:313 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... |
OMIM:612863 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Decreased response to gro... |
OMIM:601808 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Prader-Willi Syndrome |
|
Decreased fetal movement, Low 5-minute APGAR score, Decreased response to growth hormone stimulat... |
OMIM:176270 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased fetal movement, Decreased response to growth hormone stimulation test, Polyhydramnios, ... |
OMIM:213980 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Chronic diarrhea, Vomiting, Abdominal distention |
OMIM:620233 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel... |
OMIM:613001 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism |
ORPHA:776 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrioventricular canal defect, Jaundice, Dilated cardiomyopathy, Cholestasis, Biven... |
OMIM:619573 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria |
ORPHA:86818 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Macroglossia, Varicose veins, Nephroblastoma, Bifid ureter, Renal ... |
OMIM:617107 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Single umbilical artery, Ventricular septal defect, Hydrocele testis |
OMIM:145420 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect |
OMIM:619356 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Splenomegaly, Prolonged neonatal jau... |
OMIM:257220 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Exocrine pancreatic insufficiency |
ORPHA:452 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of... |
ORPHA:2092 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ... |
ORPHA:96147 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Proximal tubulopathy |
ORPHA:2609 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Umbilical hernia, Patent fo... |
ORPHA:369891 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios |
OMIM:617296 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect |
OMIM:617808 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Ectopic posterior pituitary, Truncus arteriosus, Ven... |
ORPHA:508488 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Cryptorchidism, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
Serotonin Syndrome |
|
Acute kidney injury, Hepatic failure |
ORPHA:43116 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Heart murmur, Single umbilical artery, Vesicoureteral reflu... |
OMIM:618653 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Patent foramen ovale |
OMIM:615156 |
Constricting Bands, Congenital |
|
Ectopia cordis, Abnormal lung lobation, Cleft palate |
OMIM:217100 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97283 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Bladder diverticulum, Mitral r... |
OMIM:614557 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration |
OMIM:617388 |
Atelosteogenesis, Type I |
|
Encephalocele, Premature birth, Polyhydramnios, Cryptorchidism, Stillbirth, Neonatal death |
OMIM:108720 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... |
ORPHA:99050 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
Okur-Chung Neurodevelopmental Syndrome |
|
Umbilical hernia, Polyhydramnios, Abnormal heart morphology |
OMIM:617062 |
Monosomy 13Q34 |
|
Epistaxis, Fetal pyelectasis, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis |
ORPHA:96168 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Red-brown urine, Red urine, Abn... |
ORPHA:95159 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Umbilical hernia, Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis |
OMIM:618914 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Hepatomegaly |
OMIM:612387 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Horsesh... |
OMIM:613680 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Methylmalonic aciduria |
OMIM:275350 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Penile hypospadias, Hepatic hemangioma |
ORPHA:73230 |
Esophageal Atresia |
|
Ventricular septal defect, Renal agenesis, Polyhydramnios, Abnormality of the urinary system, Abs... |
ORPHA:1199 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Polyhydramnios |
OMIM:618922 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis |
OMIM:308230 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Increased nuchal translucency, Polyhydramnios |
ORPHA:544488 |
Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Urinary incontinence, Bowel incontinence |
ORPHA:309271 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, R... |
ORPHA:565612 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Edema, Anisocytosis, Splenomegaly, ... |
ORPHA:79277 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis |
OMIM:300519 |
Hamamy Syndrome |
|
Hypoparathyroidism, Prolonged QRS complex, Complete atrioventricular canal defect, Cryptorchidism... |
OMIM:611174 |
Bainbridge-Ropers Syndrome |
|
Supernumerary nipple, Polyhydramnios, Breech presentation, Cryptorchidism, Caesarian section |
OMIM:615485 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic v... |
ORPHA:459061 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Displacement of the urethral meatus, Patent ductus arteriosus, Arte... |
ORPHA:1556 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hepatomegaly, Ascites, Hypoalbuminemia |
OMIM:226300 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Abdominal distention... |
ORPHA:653 |
Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios |
ORPHA:95232 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Decreased fetal movement, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyposp... |
OMIM:619841 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly |
OMIM:619183 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Rubinstein-Taybi Syndrome |
|
Cryptorchidism, Polyhydramnios |
ORPHA:783 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Intraventricular hemorrhage, Polyhydramnios |
OMIM:613603 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
OMIM:617452 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97282 |
Genitopatellar Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Short stature, Hydronephrosis |
ORPHA:85201 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hydronephrosis |
ORPHA:457193 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria, Retroperitoneal fibrosis |
ORPHA:35687 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Dehydration, Umbilical her... |
ORPHA:96191 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal pituitary gland morphology, Polyhydramnios |
ORPHA:314621 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... |
OMIM:602782 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Horseshoe kidney, Hepatic failure |
ORPHA:46059 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... |
ORPHA:391641 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal distention, Diarrhea, Colitis, Abdominal pain |
ORPHA:309031 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Premat... |
ORPHA:2308 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Horseshoe kidney, Polyhydramnios, Mitral valve prolapse |
ORPHA:508533 |
Kagami-Ogata Syndrome |
|
Hepatoblastoma, Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios |
ORPHA:93316 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Recurrent urinary tract infections, Perianal abscess, ... |
OMIM:612541 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Mild fetal ventriculomegaly, Unilateral renal agenesis |
OMIM:617190 |
Sotos Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, M... |
OMIM:117550 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Urinary incontinence, Polyhydramnios |
ORPHA:496641 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Hypospadias, Atrial septal defect, Pulmonary arterial hypertension, Hy... |
OMIM:616449 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
OMIM:602557 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Decreased serum zinc, Decreased testicular size |
OMIM:201100 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Anterior encephalocele |
OMIM:601357 |
Fg Syndrome Type 1 |
|
Premature birth, Hypospadias, Cryptorchidism, Mitral valve prolapse, Umbilical hernia, Small pitu... |
ORPHA:93932 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hydronephrosis, Oligohydramnios |
OMIM:619431 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Ventricular septal defect, Hypospadias, Megacystis, Vesic... |
ORPHA:209905 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Short stature, Hypospadias, Abnormality of the kidney,... |
ORPHA:1606 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Myelomeningoce... |
ORPHA:2369 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Lacticaciduria, Hype... |
ORPHA:3008 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Protuberant abdomen |
OMIM:264700 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Leptospirosis |
|
Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum trans... |
ORPHA:509 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Arteriovenous malformation, Ovarian neoplasm |
ORPHA:137608 |
Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Hypospadias, Heart murmur, Perimembranous ventricular septal defect, A... |
OMIM:158170 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
Peters Plus Syndrome |
|
Decreased fetal movement, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Polyhy... |
ORPHA:709 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
Mixed Connective Tissue Disease |
|
Splenomegaly, Nephropathy, Hepatomegaly |
ORPHA:809 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:505237 |
Presynaptic Congenital Myasthenic Syndromes |
|
Decreased fetal movement, Polyhydramnios |
ORPHA:98914 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Mitral valve pro... |
OMIM:218040 |
Congenital Myasthenic Syndrome |
|
Decreased fetal movement, Polyhydramnios |
ORPHA:590 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Spina... |
OMIM:300707 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size |
OMIM:300534 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Horseshoe kidney, Atrioventricular canal defect |
OMIM:617088 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Cholestasis, Portal fibrosis, Pulmonic stenosis, Hepatic steatosis |
OMIM:614300 |
Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:617201 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... |
ORPHA:191 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen... |
ORPHA:77293 |
Bdv Syndrome |
|
Atrial septal defect, Cryptorchidism, Micropenis |
OMIM:619326 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
Trisomy 18 |
|
Ventricular septal defect, Abnormality of the upper urinary tract, Spina bifida, Cryptorchidism, ... |
ORPHA:3380 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ... |
OMIM:607330 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Cryptorchidism, Atr... |
ORPHA:2008 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... |
ORPHA:1908 |
Thyroid Ectopia |
|
Abdominal distention, Constipation |
ORPHA:95712 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... |
ORPHA:576 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Dilatation of the ventric... |
ORPHA:459070 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Glossoptosis, High palat... |
OMIM:616145 |
Schwartz-Jampel Syndrome |
|
Prenatal movement abnormality, Polyhydramnios, Abnormality of the ureter, Nephrolithiasis, Abnorm... |
ORPHA:800 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... |
OMIM:125310 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hydronep... |
OMIM:300712 |
Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Hypoproteinemia, Hypoplasia of the thymus |
OMIM:603554 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Iniencephaly |
|
Encephalocele, Renal agenesis, Spina bifida, Polyhydramnios, Myelomeningocele, Anencephaly, Spina... |
ORPHA:63259 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:619383 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Mitral stenosis, Oligohydram... |
ORPHA:96201 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hepatitis, Hematuria |
ORPHA:728 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl... |
OMIM:607323 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Abnormal heart morphology... |
ORPHA:457279 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Oligohydramnios |
ORPHA:158687 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
Brachydactyly, Type B1 |
|
Micropenis, Ventricular septal defect |
OMIM:113000 |
Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, Abnormali... |
ORPHA:228123 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
ORPHA:93352 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Hepatosplenomegaly, Palpebral edema, Oligosacchariduria |
ORPHA:397709 |
Carpenter Syndrome 2 |
|
Dextrocardia, Situs inversus totalis, High, narrow palate, Narrow palate, High palate, Transposit... |
OMIM:614976 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Splenomega... |
OMIM:188400 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Pulmonary hypoplasia, Hyperecho... |
OMIM:615636 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Vesicoureteral... |
ORPHA:494344 |
Distal Deletion 10Q |
|
Premature birth, Functional abnormality of the bladder, Spina bifida occulta, Vesicoureteral refl... |
ORPHA:96148 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Nephroblastoma, Myeloid leukemia, Recurrent pneumonia, Abnormality of ... |
ORPHA:798 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Mitochondrial swelling, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect |
ORPHA:1458 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent foramen ovale, Oligohydramnios |
OMIM:620113 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect, Cryptorchidism |
OMIM:612938 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... |
OMIM:614823 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:613706 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration |
OMIM:612852 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections |
OMIM:611961 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Horse... |
OMIM:619103 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the urinary system, Atrial septal defec... |
OMIM:244300 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Spina bifida, Bilateral... |
OMIM:180849 |
Cono-Spondylar Dysplasia |
|
Polyhydramnios |
ORPHA:420794 |
Charge Syndrome |
|
Hypoparathyroidism, Overriding aorta, Ventricular septal defect, Renal agenesis, Polyhydramnios, ... |
OMIM:214800 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Lymphedema, Pineal cyst, Atrial septal defect, H... |
OMIM:600268 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Cryptorchidism, Hypospadias |
OMIM:619314 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr... |
ORPHA:99826 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
Neu-Laxova Syndrome |
|
Decreased fetal movement, Spina bifida, Polyhydramnios |
ORPHA:2671 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypoammonemi... |
ORPHA:534 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
OMIM:241310 |
Congenital Analbuminemia |
|
Premature birth, Edema, Facial edema, Pedal edema, Low pulse pressure, Oligohydramnios |
ORPHA:86816 |
Trisomy 10P |
|
Absent gallbladder, Abnormality of the kidney, Growth delay, High palate, Rectovaginal fistula, M... |
ORPHA:171929 |
Steinfeld Syndrome |
|
Absent gallbladder, Unilateral renal dysplasia |
OMIM:184705 |
Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Cleft palate, Abnormal cardiac septum morphology, High palate, Pulmon... |
ORPHA:3310 |
Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios |
ORPHA:1394 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... |
ORPHA:95409 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio... |
ORPHA:79093 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Cleft ... |
ORPHA:33001 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Re... |
ORPHA:79318 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol... |
ORPHA:2969 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Patent foramen ovale, Hypospadias |
OMIM:619184 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:100026 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Polyhydramnios |
ORPHA:563612 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morpholog... |
ORPHA:97297 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Coronary artery fistula, Ne... |
OMIM:620024 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect |
ORPHA:896 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1488 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Polyhydramn... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Polyhydramn... |
ORPHA:353277 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Short stature, Cleft palate, Glossoptosis, Intrauterine growth reta... |
ORPHA:1393 |
Menkes Disease |
|
Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bladder divertic... |
ORPHA:565 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Premature birth, Lymphedema, Cryptorchidism, Pulmonic stenosis, ... |
ORPHA:1340 |
Achondroplasia |
|
Premature rupture of membranes, Polyhydramnios |
OMIM:100800 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Ventricular septal defect |
OMIM:169400 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellu... |
ORPHA:90062 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Enlarged lacrimal glands, ... |
ORPHA:797 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At... |
OMIM:121050 |
3P25.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
ORPHA:435638 |
Listeriosis |
|
Liver abscess, Jaundice, Peritonitis, Pyelonephritis, Hepatic granulomatosis, Cholecystitis, Sple... |
ORPHA:533 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Feeding difficulties, Protuberant abdomen, Tube feeding, Micropenis |
OMIM:619479 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Double outlet right ventricle, Micropenis... |
ORPHA:163956 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glomerulonephritis, Bil... |
ORPHA:289390 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Chronic Granulomatous Disease |
|
Splenomegaly, Hepatomegaly, Liver abscess |
ORPHA:379 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Multiple glomerular cysts, Low plasma citrulline, Lacticaciduria, Hyperalaninemia, ... |
ORPHA:255210 |
Yunis-Varon Syndrome |
|
Absent nipple, Ventricular septal defect, Premature birth, Polyhydramnios, Hypospadias, Cryptorch... |
OMIM:216340 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Increased nuchal translucency, Hypertrophy of the urinary bladder, Unilateral renal ... |
ORPHA:280633 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Atrial s... |
OMIM:606170 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Gonadotropin deficiency, Ventricular septal defect, Decreased response to g... |
OMIM:610978 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Hepatoblastoma, Large p... |
ORPHA:96334 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Bicuspid aortic valve, Dextrocardia |
ORPHA:536545 |
Mercury Poisoning |
|
Hypokalemia, Acute kidney injury |
ORPHA:330021 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis |
OMIM:133540 |
Pyomyositis |
|
Renal insufficiency, Testicular teratoma |
ORPHA:764 |
Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
Vitamin D-Dependent Rickets, Type 2A |
|
Protuberant abdomen |
OMIM:277440 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis |
OMIM:216400 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Ventricular septal defect |
OMIM:617061 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c... |
ORPHA:98908 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Urinary incontinence |
ORPHA:476126 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
Lethal Congenital Contracture Syndrome 9 |
|
Decreased fetal movement, Short umbilical cord, Polyhydramnios, Absence of stomach bubble on feta... |
OMIM:616503 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97280 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology |
ORPHA:1292 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux |
ORPHA:140952 |
Congenital Fiber-Type Disproportion Myopathy |
|
Decreased fetal movement, Cor pulmonale, Polyhydramnios, Abnormal heart morphology |
ORPHA:2020 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Breech presentation, Hypoplasia of the thymus, Multiple blad... |
OMIM:613177 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:158048 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Umbilical hernia, Supravalvular aortic stenosis, Oligohydramnios |
OMIM:219100 |
Hurler Syndrome |
|
Heparan sulfate excretion in urine, Protuberant abdomen, Urinary glycosaminoglycan excretion, Der... |
OMIM:607014 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Abnormal intrahepatic... |
ORPHA:363618 |
Enlarged Parietal Foramina |
|
Venous malformation, Abnormal cerebral vein morphology, Cleft palate |
ORPHA:60015 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Mitral valve prolapse, B... |
OMIM:617402 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... |
ORPHA:324 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Polycythemia Vera |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:729 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Recurrent urinary tract infections, Ventricular septal d... |
ORPHA:261330 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, V... |
OMIM:619951 |
Steinert Myotonic Dystrophy |
|
Decreased fetal movement, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic d... |
ORPHA:273 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Patent ductus arteriosus |
OMIM:619480 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage |
ORPHA:624 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Heart murmur, Intracr... |
ORPHA:163979 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis, Short umbilical cord, Polyhydramnios |
OMIM:600383 |
Idiopathic Hypereosinophilic Syndrome |
|
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... |
ORPHA:3260 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial ... |
OMIM:147791 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypertensi... |
OMIM:100300 |
Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect |
OMIM:615673 |
Gaucher Disease, Type Ii |
|
Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia |
OMIM:230900 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Cryptorchidism |
ORPHA:276432 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Hematuria, Inc... |
ORPHA:60025 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Submucous cleft hard palate, Double outlet right ventric... |
OMIM:300166 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Protuberant abdomen |
ORPHA:289157 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Hepatic steatosis, Decreased tes... |
OMIM:619321 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Ne... |
ORPHA:544482 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Reduced C-peptide level, Pancreatic aplasia, Hypoamylasemia, Absent gallbladder |
ORPHA:556955 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cryptorchid... |
OMIM:610443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ... |
OMIM:253800 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Splenomegaly, Hepatomegaly |
OMIM:301078 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:614114 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem... |
ORPHA:904 |
Fanconi Anemia, Complementation Group B |
|
Single umbilical artery, Renal agenesis, Ventricular septal defect, Micropenis |
OMIM:300514 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Premature birth, Abnormality of pr... |
OMIM:619229 |
Al Kaissi Syndrome |
|
Atrial septal defect |
OMIM:617694 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux, Ventricular septal defect |
ORPHA:3078 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria |
ORPHA:761 |
Liposarcoma |
|
Varicose veins, Abnormality of the kidney |
ORPHA:69078 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Increased nuchal translucency, Ventricular septal defect |
ORPHA:79345 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... |
ORPHA:2785 |
Charge Syndrome |
|
Polyhydramnios, Cryptorchidism, Horseshoe kidney, Abnormal cardiac septum morphology, Abnormal ao... |
ORPHA:138 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Hypos... |
ORPHA:955 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... |
ORPHA:2438 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Lymphedema, Enlarged polycystic ovaries, Splenomegaly, N... |
ORPHA:744 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:231005 |
Renal Nutcracker Syndrome |
|
Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ... |
ORPHA:71273 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Atrial septal defect, Tetra... |
ORPHA:96167 |
Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect |
OMIM:614526 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hypospadias |
OMIM:617602 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... |
OMIM:619656 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Junctional ectopic tachycardia, Chordee... |
OMIM:309801 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve |
OMIM:619720 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Complete atrioventricular canal defect, Neonatal death, Micropenis, Tetralogy... |
OMIM:617925 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Polyhydramnios, Mitral valve prolapse, Tricuspid valve prolapse, Atrial sep... |
OMIM:618371 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicoureteral reflux, ... |
ORPHA:2745 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Polyhydramnios, Abnormal heart morphology, Spinal dysraphism, Hydronep... |
OMIM:114290 |
Atelosteogenesis Type Ii |
|
Polyhydramnios |
ORPHA:56304 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
Zygomycosis |
|
Renal insufficiency, Peritonitis, Hepatitis, Splenic abscess, Nephritis, Pancreatitis |
ORPHA:73263 |
Filippi Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
ORPHA:3255 |
Zaki Syndrome |
|
Renal agenesis, Patent foramen ovale, Hydronephrosis |
OMIM:619648 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Cardiomegaly, Partial anomalous pulmonary venous retu... |
ORPHA:95430 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posteri... |
OMIM:300000 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular... |
ORPHA:1900 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Pulmonic stenosis,... |
OMIM:610759 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Abnormal heart morpholog... |
ORPHA:97360 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Horseshoe kidney |
OMIM:300867 |
Agel Amyloidosis |
|
Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Tetralogy of Fallot, Ectopic a... |
ORPHA:1507 |
Short Stature-Micrognathia Syndrome |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Penoscrotal hypospadias |
OMIM:617164 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency |
OMIM:203300 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Annular pancreas, Patent ductus arteriosus |
OMIM:618162 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Micropenis, Vesicoureteral reflux |
OMIM:609625 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Macroorchidism, Ventricular septal defect |
OMIM:309520 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Epispadias, Cryptorchidism, Atrial septal defect, Common atrium |
OMIM:225500 |
Proximal Spinal Muscular Atrophy |
|
Atrial septal defect, Decreased fetal movement, Bradycardia |
ORPHA:70 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
OMIM:300963 |
Peters-Plus Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Polyhydramnios, Bilobate gallbladde... |
OMIM:261540 |
X-Linked Acrogigantism |
|
Abdominal distention |
ORPHA:300373 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Constipation |
OMIM:218700 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Hypospadias |
ORPHA:77298 |
Doors Syndrome |
|
Thickened nuchal skin fold, Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasi... |
ORPHA:79500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cryptorchidism, Micropenis, Ventricular septal defect |
OMIM:620073 |
Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple |
ORPHA:46627 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Abnormal circulating cholesterol concentration |
OMIM:213700 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Urinary urgency, Varicose veins, Spastic/hyperactive bladder |
ORPHA:100991 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased... |
ORPHA:352665 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic ao... |
OMIM:605822 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Decreased fetal movement |
OMIM:614207 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Cranioectodermal Dysplasia 4 |
|
Stage 5 chronic kidney disease |
OMIM:614378 |
Tetraamelia Syndrome 2 |
|
Micropenis, Absent nipple, Ventricular septal defect |
OMIM:618021 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Atrial septal defec... |
OMIM:257920 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin... |
ORPHA:466677 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple, Hypospadias |
ORPHA:217346 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Chops Syndrome |
|
Ventricular septal defect, Cryptorchidism, Splenomegaly, Anomalous pulmonary venous return, Horse... |
OMIM:616368 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Fetal distress |
OMIM:619312 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Di... |
ORPHA:95455 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypos... |
ORPHA:508498 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Hypertension, Br... |
OMIM:614653 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula |
OMIM:619699 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Atrial... |
ORPHA:769 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Ventricular septal defect |
OMIM:610832 |
Renal Agenesis, Bilateral |
|
Fetal polyuria, Sirenomelia, Renal agenesis, Oligohydramnios |
ORPHA:1848 |
Phaver Syndrome |
|
Myelomeningocele, Ventricular septal defect |
ORPHA:2876 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Umbilical hernia, Ventricular septal defect, Proteinuria |
OMIM:222448 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Decreased fetal movement, Cryptorchidism, Xerostomia, Small pituitary gland, Atrial septal defect... |
ORPHA:398069 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension |
ORPHA:261279 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
Kasabach-Merritt Syndrome |
|
Abdominal distention, Abdominal pain |
ORPHA:2330 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Vesicoureteral reflux |
OMIM:614749 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale, Thyroid hypoplasia, Ectopic thyroid |
OMIM:225250 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Renal agenesis, Cryptorchidism, Perimembranous ventricula... |
OMIM:301040 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:3186 |
Schneckenbecken Dysplasia |
|
Cryptorchidism, Polyhydramnios, Lymphedema |
ORPHA:3144 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia |
OMIM:181270 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Rectoperineal fistula, Short stature, Hypospadias, Renal insufficiency, Ecto... |
ORPHA:857 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Orchitis, Splenomegaly, Pancreatitis |
ORPHA:117 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Micropenis, Ventricular septal defect, Supernumerary nipple, Hypospadias |
OMIM:106260 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Cryptorchidism |
OMIM:613834 |
Mucopolysaccharidosis Type 3 |
|
Heparan sulfate excretion in urine, Mucopolysacchariduria, Urinary glycosaminoglycan excretion, C... |
ORPHA:581 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Galactosuria, Enuresis nocturna |
ORPHA:251061 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:363958 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Breast aplasia,... |
ORPHA:3138 |
Fetal Alcohol Syndrome |
|
Atrial septal defect |
ORPHA:1915 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:261236 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Atrial septal defect, Umbilical hernia... |
ORPHA:1519 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Viss Syndrome |
|
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Polyhydramnios, Mitra... |
OMIM:619472 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Micropenis, Pancreatitis |
OMIM:619471 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Hypospadias |
ORPHA:436003 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Ventricular septal defect, Hypospadias, Renal agenesis,... |
OMIM:192350 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
C Syndrome |
|
Multicystic kidney dysplasia, Polyhydramnios, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe... |
ORPHA:1308 |
Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Decreased response to growth hormone stimulation t... |
ORPHA:488632 |
White-Sutton Syndrome |
|
Atrial septal defect, Duplicated collecting system, Patent foramen ovale |
OMIM:616364 |
Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Cryptorchidism |
OMIM:605130 |
Cardiospondylocarpofacial Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Dysplast... |
OMIM:157800 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Cyst of the ductus choledochus, Patent ductus arteriosus, Hypoplastic nipples, H... |
ORPHA:480880 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:619121 |
Poland Syndrome |
|
Atrial septal defect, Dextrocardia |
ORPHA:2911 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Splenomegaly... |
ORPHA:2729 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Meningocele... |
OMIM:130720 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Unilateral breast hypoplasia, Renal dysplasia, Hydronephrosis |
OMIM:300968 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst, Disproportionate short-trunk short stature, Cleft palate |
OMIM:272460 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Micropenis, Thickened nuchal skin fold |
OMIM:620076 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Hypoplastic left... |
ORPHA:2209 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Hiatus hernia, Venous insufficiency, High, narrow palate, Jau... |
ORPHA:198 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Atrial septal defect |
ORPHA:251066 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Portal hypertension, Abno... |
OMIM:194050 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect, Cryptorchidism |
ORPHA:2789 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Hepatomegaly, Liver abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Hepatomegaly, Liver abscess |
OMIM:233710 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Hypertension, Atrial septal defect, Ureteropelvic junction obstruction, Ol... |
OMIM:300896 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Abnormal renal morphology |
OMIM:207410 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves... |
OMIM:616580 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect |
OMIM:620194 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Hepatosplenomega... |
ORPHA:3385 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Premature birth, Congestive heart failure, Renal h... |
OMIM:105650 |
Leigh Syndrome |
|
Ventricular septal defect, Congestive heart failure, Lacticaciduria, Methylmalonic aciduria, Gene... |
ORPHA:506 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Breast hypoplasia |
ORPHA:1439 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Hepatomegaly, Liver abscess |
OMIM:233690 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Decreased pl... |
ORPHA:79408 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Atri... |
ORPHA:96121 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Mitral regurgitation |
OMIM:615582 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect |
OMIM:619143 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Absent nipple, Cryptorchidi... |
OMIM:612289 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease |
ORPHA:25 |
Glomuvenous Malformation |
|
Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio... |
ORPHA:83454 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney disease, Abnormality of the... |
ORPHA:90340 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Duplicated collecting system, Annular pancreas |
ORPHA:488642 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease |
OMIM:208060 |
Thakker-Donnai Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
ORPHA:1780 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal heart morphology, Melena, Hematochezia, Intestinal bleeding... |
ORPHA:79076 |
Dyggve-Melchior-Clausen Disease |
|
Protuberant abdomen |
ORPHA:239 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Recurrent urinary tract infections, Ventricular septal defect, Abnormal pul... |
ORPHA:268261 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Hepatoblastoma, Cryptorchidism, Horseshoe kidney, Abnorma... |
ORPHA:1465 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Renal hypoplasia, Polyhydramnios, Pseudohypoparathyroidism |
OMIM:617157 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
OMIM:612530 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Stage 5 chronic kidney disease |
OMIM:608612 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr... |
OMIM:613457 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Polyhydramnios |
ORPHA:435628 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Vesi... |
OMIM:616894 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal a... |
OMIM:617140 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... |
OMIM:272950 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Decreased fetal movement, Hepatomegaly, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo... |
OMIM:610505 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Ade... |
ORPHA:733 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Anteriorly placed anus, Cryptorchidism, Hypospadias, Renal cyst |
ORPHA:495875 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Cryptorc... |
OMIM:227645 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Retinal hemorrha... |
OMIM:609049 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Lymphedema, Cryptorchidism, Chylothorax, Pulmonic stenosi... |
OMIM:163950 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Feeding difficulties, Gastroesophageal reflux, Protuberant ab... |
OMIM:616268 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormality of the kidney, Decreased response to growth hormone stimulation test, Anterior pituit... |
ORPHA:177907 |
Keppen-Lubinsky Syndrome |
|
Polyhydramnios |
OMIM:614098 |
Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
Diamond-Blackfan Anemia 10 |
|
Renal duplication, Ventricular septal defect, Ectopic kidney |
OMIM:613309 |
Orofaciodigital Syndrome V |
|
Unilateral cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney |
OMIM:174300 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Abnormal T-wave, Ureteropelvic ... |
ORPHA:444072 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... |
OMIM:249420 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect |
ORPHA:93947 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Multicystic kidney dysplasia, Hypospadias, Renal insufficie... |
OMIM:107480 |
Wolf-Hirschhorn Syndrome |
|
Decreased fetal movement, Abnormal heart valve morphology, Hypospadias, Abnormality of the kidney... |
ORPHA:280 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Xerostomia |
ORPHA:1051 |
De Barsy Syndrome |
|
Decreased fetal movement, Ventricular septal defect, Cryptorchidism, Premature rupture of membran... |
ORPHA:2962 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion |
ORPHA:2526 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Aplasia of the sweat glands, Hepatomegaly, Splenomegaly |
OMIM:612132 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... |
ORPHA:466791 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Intestinal malrotation, Hypospa... |
ORPHA:199 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contra... |
OMIM:602535 |
Neurofibroma |
|
Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect |
ORPHA:457351 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Unilatera... |
ORPHA:261337 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bu... |
OMIM:617403 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... |
ORPHA:363700 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Hypoplastic nipples |
ORPHA:261323 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con... |
OMIM:615287 |
Tarp Syndrome |
|
Cryptorchidism, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis |
ORPHA:2886 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Agenesis of pineal gland, Abnormal heart valve morphology, Lymphedema, Cryptorchidism, Pulmonic s... |
ORPHA:536471 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atrioventricular canal... |
ORPHA:672 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:2162 |
Cohen Syndrome |
|
Cryptorchidism, Decreased fetal movement, Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
Microphthalmia With Limb Anomalies |
|
Short stature, Venous insufficiency, Cryptorchidism, Horseshoe kidney, Cleft palate, High palate |
ORPHA:1106 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Renal tubular acidosis, Ventricular septal defect, Caesarian section |
OMIM:619575 |
Livedoid Vasculopathy |
|
Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke |
ORPHA:542643 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Hepatoblastoma, Splenopancreatic fusion, Hypoplastic... |
OMIM:269150 |
Erythrocytosis, Familial, 2 |
|
Varicose veins, Stroke, Cerebral hemorrhage |
OMIM:263400 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect |
OMIM:602482 |
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 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect |
ORPHA:52055 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Mitral valve prolapse, Nephrotic s... |
OMIM:601776 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:251014 |
Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Left vent... |
OMIM:242840 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias... |
ORPHA:353281 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency |
ORPHA:79430 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Umbilical hernia, Tetralogy of Fallot |
OMIM:192430 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Spina bifida occulta, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Hypospadias, Decreased response to growth hormone stimulation test, Polyhydram... |
OMIM:613406 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatic steatosis, Hepatomegaly, Hypospadias, Abnormal renal collecting system morphology, Methyl... |
ORPHA:17 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Ventricular septal defect |
OMIM:300472 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormality of the hepatic vasculature, Abnormal vena cava morphology, Atrial septa... |
ORPHA:1677 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Hypospadias, Polyhydramnios, Supernumerar... |
OMIM:601803 |
Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Pyknoachondrogenesis |
|
Abdominal distention |
ORPHA:3003 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Decreased testicular size |
ORPHA:251028 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Ventricular septa... |
OMIM:280000 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis |
OMIM:617557 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:244450 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:142900 |
Branchiooculofacial Syndrome |
|
Hypospadias, Renal agenesis, Supernumerary nipple, Postnatal growth retardation, Malrotation of c... |
OMIM:113620 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Umbilical hernia, Micropenis, Pa... |
OMIM:613884 |
Mowat-Wilson Syndrome |
|
Hypospadias, Abnormality of the kidney, Abdominal distention, Constipation, Vomiting |
OMIM:235730 |
Trichothiodystrophy |
|
Ventricular septal defect, Abnormality of prenatal development or birth, Cryptorchidism, Cardiomy... |
ORPHA:33364 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect |
ORPHA:2637 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Chordee, Hypospadias |
OMIM:618891 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Dysplastic tricuspid valve,... |
ORPHA:1724 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas, Telangiectasia |
OMIM:268400 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Tetralogy of Fallot, Patent fo... |
OMIM:618748 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Aortic regurgitation |
OMIM:609460 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
OMIM:277600 |
Larsen Syndrome |
|
Atrial septal defect, Cryptorchidism, Spina bifida occulta, Ventricular septal defect |
OMIM:150250 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis |
OMIM:614609 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Neurogenic bladder, Ventricular septal defect, Arrhythmia |
ORPHA:2710 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Cryptorchidism, Fetal pyelectasis |
OMIM:619512 |
Fraser Syndrome |
|
Anal stenosis, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Re... |
ORPHA:2052 |
Weill-Marchesani Syndrome 2 |
|
Protuberant abdomen |
OMIM:608328 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Atrial septal defect, Patent ... |
OMIM:619268 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Tetralogy of Fallot |
OMIM:600460 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Micropenis, Pelvic kidney, ... |
OMIM:619503 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformat... |
OMIM:610655 |
Cerebellofaciodental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Aortic regurgitation |
OMIM:620072 |
Ctcf-Related Neurodevelopmental Disorder |
|
Phimosis, Cryptorchidism, Mitral regurgitation, Prolonged neonatal jaundice, Atrial septal defect... |
ORPHA:363611 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Congestive heart failure, Functional abnormality of the bladder, Hepatitis, Renovascular hyperten... |
ORPHA:391487 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormality of the anterior pit... |
ORPHA:438213 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Arrhythmia |
OMIM:164200 |
Renpenning Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria... |
OMIM:309500 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Focal segmental g... |
OMIM:619127 |
Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
Omodysplasia 1 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Cryptorchidism |
OMIM:258315 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Co... |
ORPHA:444077 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,... |
OMIM:619522 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios |
OMIM:608670 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect |
ORPHA:251038 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect |
OMIM:619306 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Protuberant abdomen |
OMIM:618019 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g... |
ORPHA:3474 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Vesicoureteral reflux |
OMIM:619869 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Epispadias, Cryptorchidism, Unilateral renal ... |
OMIM:615948 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Total anomalous pulmonary venous return, Atrial se... |
OMIM:609945 |
Phace Association |
|
Ventricular septal defect, Lingual thyroid |
OMIM:606519 |
Apert Syndrome |
|
Cryptorchidism, Overriding aorta, Ventricular septal defect, Hydronephrosis |
OMIM:101200 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect |
OMIM:178110 |
Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation |
OMIM:271640 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Cryptorchidism, Spina bifida... |
OMIM:135900 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia |
ORPHA:1934 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Atrial septal defect |
ORPHA:522077 |
Bartsocas-Papas Syndrome 1 |
|
Decreased fetal movement, Ectopic kidney, Bilateral cryptorchidism, Micropenis, Patent foramen ovale |
OMIM:263650 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect |
OMIM:613458 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Nuchal cord, Bicuspid aortic valve, Ventricular septal defect, Palpebral ed... |
OMIM:619475 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Vascular dilatation, Aortic dissection |
OMIM:618343 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Micropenis |
OMIM:206900 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Thoracic aortic aneurysm, Eosinophilic infiltration of the esophagus,... |
OMIM:613795 |
Acrofacial Dysostosis 1, Nager Type |
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Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, Premature birth |
OMIM:154400 |
Frontometaphyseal Dysplasia 2 |
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Neurogenic bladder, Bicuspid aortic valve, Cryptorchidism, Pulmonic stenosis, Patent foramen ovale |
OMIM:617137 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... |
OMIM:607872 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Hypospadias, Supernumerary nipple, Cryptorchidism, Chordee, Patent foramen ovale |
ORPHA:477993 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Transient ischemic attack, Bilateral renal dysplasia, Unilateral renal agenes... |
ORPHA:500150 |
Holoprosencephaly 13, X-Linked |
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Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... |
OMIM:301043 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Decreased fetal movement, Ventricular septal defect, Hypospadias, Cryptorchidis... |
OMIM:194190 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:909 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Chronic constipation, Protuberant abdomen |
OMIM:256040 |
Atelosteogenesis Type Iii |
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Polyhydramnios |
ORPHA:56305 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v... |
OMIM:612474 |
Kabuki Syndrome 1 |
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Crossed fused renal ectopia, Ventricular septal defect, Cryptorchidism, Micropenis, Atrial septal... |
OMIM:147920 |
Vascular Ehlers-Danlos Syndrome |
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Peripheral arteriovenous fistula, Short stature, Hypospadias, Arterial dissection, Transient isch... |
ORPHA:286 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Cryptorchidism, Ventricular septal defect, Cerebral hemorrhage, Proteinuria |
OMIM:616682 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Cleft pal... |
OMIM:164210 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect |
OMIM:301044 |
Neurofibromatosis-Noonan Syndrome |
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Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis |
OMIM:601321 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Otopalatodigital Syndrome, Type Ii |
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Hypospadias, Spina bifida, Cryptorchidism, Stillbirth, Atrial septal defect, Umbilical hernia, Hy... |
OMIM:304120 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve, Chalazion |
OMIM:613355 |
Gabriele-De Vries Syndrome |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Ebstein anomaly of the tri... |
ORPHA:506358 |
Loeys-Dietz Syndrome 1 |
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Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse |
OMIM:609192 |
Meige Disease |
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Varicose veins |
ORPHA:90186 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Hypoplasti... |
OMIM:181450 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Ventricular septal defect, Supernumerary nipple |
ORPHA:1071 |
Holoprosencephaly 14 |
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Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial septal defect, Umb... |
OMIM:610168 |
Ehlers-Danlos Syndrome, Vascular Type |
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Short stature, Cryptorchidism, Descending aortic dissection, Cystocele, Varicose veins, Dilatatio... |
OMIM:130050 |
Hypermobile Ehlers-Danlos Syndrome |
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Malabsorption, Venous insufficiency, Cystocele, Ascending tubular aorta aneurysm, Arterial dissec... |
ORPHA:285 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Aplasia of the sweat glands, Chronic kidney disease |
ORPHA:642 |
Proboscis Lateralis |
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Ureteral agenesis, Duplication of renal pelvis, Ventricular septal defect, Unilateral renal agenesis |
ORPHA:141099 |
Faciocardiomelic Syndrome |
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Common atrium |
OMIM:612731 |
Keutel Syndrome |
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Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Umbilical hernia, Ventricular septal defect, Hydronephrosis |
OMIM:620330 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Orofaciodigital Syndrome Type 14 |
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Bilateral cryptorchidism, Epispadias, Ventricular septal defect |
ORPHA:434179 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Ventricular septal defect, Pineal cyst |
ORPHA:513456 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Norrie Disease |
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Venous insufficiency, Cryptorchidism, Delayed puberty |
ORPHA:649 |