Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
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 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... |
OMIM:614377 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... |
OMIM:607361 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts |
OMIM:600666 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P... |
OMIM:602347 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... |
OMIM:267010 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of ... |
OMIM:612284 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas |
ORPHA:2924 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Asthma, Atopic dermatitis, Hepatosplenomegaly, Me... |
OMIM:618999 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Renal cyst |
OMIM:174050 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Decreased glom... |
ORPHA:730 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Renal cyst, Hepatic cysts |
OMIM:263630 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Meckel Syndrome, Type 5 |
|
Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611561 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Porphyrinuria |
OMIM:176090 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th... |
ORPHA:480520 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Polycystic liver disease, Short stature, Pancreatic fibros... |
OMIM:208500 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel... |
ORPHA:521219 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... |
OMIM:618955 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
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 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... |
ORPHA:1318 |
Meckel Syndrome, Type 2 |
|
Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Abnormal localization of kidney, Prolonged neonatal jaundice |
ORPHA:446 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... |
ORPHA:369 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo... |
OMIM:613759 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Dyspnea, Abnormal mesentery mo... |
ORPHA:284 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Meckel Syndrome, Type 4 |
|
Renal cyst, Bile duct proliferation, Cleft palate |
OMIM:611134 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis, Hy... |
OMIM:619111 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure |
ORPHA:132 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Tubulointerstitial fibrosis |
OMIM:232500 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... |
ORPHA:84081 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth... |
ORPHA:3156 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Respiratory failure |
ORPHA:890 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal inflammation, Hepat... |
OMIM:619858 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney ... |
OMIM:615993 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Cadds |
|
Elevated hepatic transaminase, Intrauterine growth retardation, Cholangitis, Cholestasis |
ORPHA:369942 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro... |
OMIM:209920 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... |
OMIM:193300 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... |
OMIM:216360 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Protein-losing... |
OMIM:602579 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... |
OMIM:278000 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries |
ORPHA:280356 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:232400 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract... |
ORPHA:79301 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Adams-Oliver Syndrome 6 |
|
Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis |
OMIM:616589 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Ecze... |
ORPHA:83617 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619386 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepatic steatosis, Exocrine pan... |
OMIM:616263 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
Bile Acid Malabsorption, Primary, 2 |
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Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
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Hepatomegaly, High palate |
OMIM:614882 |
Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasia/Hypoplasia of the to... |
ORPHA:564 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias |
OMIM:245550 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular ... |
OMIM:614922 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... |
OMIM:620010 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... |
OMIM:615158 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... |
OMIM:618329 |
Joubert Syndrome 9 |
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Stage 5 chronic kidney disease, Hepatic fibrosis, Apnea, Episodic tachypnea |
OMIM:612285 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Hepatomegaly, Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysp... |
OMIM:613730 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Joubert Syndrome 35 |
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Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst... |
OMIM:261515 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis |
OMIM:194380 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
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Hepatomegaly, Respiratory failure, Renal cyst, Death in infancy |
OMIM:614862 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displaceme... |
ORPHA:2377 |
Hjv Or Hamp-Related Hemochromatosis |
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Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... |
ORPHA:79230 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am... |
ORPHA:85450 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Medullary cystic kidney disease 2 |
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Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Glycogen Storage Disease Vii |
|
Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria |
OMIM:232800 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Liver abscess, Cholangitis, Pneumoni... |
ORPHA:183675 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, Thyroiditis, H... |
ORPHA:228426 |
Psoriasis 14, Pustular |
|
Pustule, Psoriasiform dermatitis, Oligoarthritis, Cholangitis |
OMIM:614204 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concen... |
OMIM:619991 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, 3-Methylglutaconic aciduria |
ORPHA:67046 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
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Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosis, Bone marrow hypocellularit... |
OMIM:617341 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Cirr... |
OMIM:308230 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Respiratory insufficienc... |
OMIM:609981 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Disproportionate short stature, Hepatic cysts, Erythroderma |
OMIM:617425 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital he... |
OMIM:266920 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, L... |
OMIM:311200 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ... |
OMIM:618641 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers... |
OMIM:615862 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Myoglobinuria, Hepatic steatosis |
OMIM:231530 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ... |
OMIM:245400 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... |
ORPHA:2552 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure |
ORPHA:60 |
Joubert Syndrome 18 |
|
Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... |
OMIM:263520 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Neonatal respiratory distress, Apn... |
OMIM:608836 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne... |
OMIM:214900 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepatic fibrosis, Decreased liver ... |
ORPHA:79319 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, E... |
OMIM:201475 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Crackles, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restrict... |
ORPHA:79128 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... |
ORPHA:234 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Ren... |
OMIM:613390 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Disproportionate short-trunk short stature, Nephroblastom... |
OMIM:608022 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Hypospadias, Abnormality of the kidney, Cryptorchidism, Growth de... |
ORPHA:1194 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Mednik Syndrome |
|
Death in infancy, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Death in childhood, Neo... |
OMIM:609313 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta... |
ORPHA:79303 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Splenic infarction, Hematuria, Choleli... |
OMIM:603903 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Gro... |
ORPHA:541423 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Median cleft palate |
ORPHA:2432 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Post... |
OMIM:617093 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Respiratory insufficiency, Nephropathy, Abnorm... |
ORPHA:1909 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Abnormal p... |
ORPHA:449432 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... |
OMIM:606003 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Rhizomelia, Short stature, Chol... |
OMIM:613610 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... |
OMIM:124000 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:615486 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic ... |
ORPHA:805 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Renal cyst, Respiratory... |
ORPHA:2031 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hepatocellular carcinoma... |
OMIM:232200 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis |
OMIM:613490 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... |
ORPHA:26791 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Intestinal malrotation, Hepatitis, Intestinal atresia, Hypoplasia of... |
ORPHA:436252 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, High, narrow pal... |
OMIM:218330 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha... |
ORPHA:2750 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... |
ORPHA:90117 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure, Death in infancy, Hepatomegaly |
OMIM:610678 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Decreased liver function, Cholestasis |
ORPHA:570422 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Bilateral renal agenesis |
OMIM:619887 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
Donohue Syndrome |
|
Postnatal growth retardation, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic... |
OMIM:246200 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Hypoplasia of the bladder, Ureteral hypoplasia, Hydronephrosis, Pe... |
ORPHA:79328 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No... |
ORPHA:454836 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Proteinuria... |
OMIM:619487 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Hepatic fibros... |
OMIM:614091 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Grade ... |
OMIM:619377 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Bifid uvula |
OMIM:619480 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular adeno... |
ORPHA:264580 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Cholan... |
ORPHA:3260 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Accessory spleen, Elevated circul... |
OMIM:300972 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Cholelithiasis, Hepatic failure, Elevated hepatic transaminase |
OMIM:614886 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... |
OMIM:619057 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Malformation... |
OMIM:249000 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... |
OMIM:137920 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Short stature, Cyst of the ductus choledochus, Hydronephrosis, Hypoplastic ... |
ORPHA:480880 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Intestinal malrotation, Portal... |
OMIM:613658 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Nephrotic syn... |
OMIM:617303 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large... |
ORPHA:171 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Cryptorchidism, Respiratory failure, Respiratory insufficiency due to muscle weak... |
OMIM:611890 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neoplasm, Enlarged polycystic ov... |
ORPHA:2869 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Meckel Syndrome, Type 10 |
|
Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Pancreatic cysts, Patent ductus arteriosus, Dilatation o... |
OMIM:274000 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Interstitial pneumonitis, Respiratory... |
OMIM:620296 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Nephropathy, Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosc... |
OMIM:617056 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis |
OMIM:613861 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictiv... |
ORPHA:99931 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due... |
OMIM:220110 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia, Hypospadias, Cholestasis |
ORPHA:1296 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis |
OMIM:618240 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis |
OMIM:240300 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova... |
ORPHA:79240 |
Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepati... |
ORPHA:186 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Joubert Syndrome 20 |
|
Respiratory insufficiency, Renal cyst |
OMIM:614970 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi... |
OMIM:614299 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, St... |
ORPHA:101330 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure |
OMIM:615878 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Respiratory insufficiency, Multiple rena... |
ORPHA:1166 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea |
ORPHA:1832 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:247585 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... |
OMIM:615512 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Polycystic kidney dysplasia |
OMIM:263210 |
Genitopalatocardiac Syndrome |
|
Cleft palate, Hypospadias, Renal cyst |
OMIM:231060 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic necrosis, My... |
ORPHA:71212 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Respiratory failure, Decrease... |
ORPHA:79327 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Hepatic fib... |
ORPHA:79322 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria |
ORPHA:35 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Renal hypoplasia, Respiratory insufficiency |
OMIM:276950 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormality of the kidney, Keratitis, Retroperitoneal fibrosis, Orchitis,... |
ORPHA:449563 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas... |
OMIM:615895 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Growth delay, Nephr... |
ORPHA:445038 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Neonatal respiratory distress, Nephroblastoma, Stage 5 chronic kidne... |
OMIM:194080 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... |
ORPHA:79259 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency |
ORPHA:28 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati... |
ORPHA:774 |
Distal Duplication 5Q |
|
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Ascites, Abnormal large intestine morphology |
ORPHA:2198 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy |
ORPHA:42642 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Intestinal obstruction, Porta... |
ORPHA:131 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, St... |
OMIM:235555 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,... |
OMIM:619534 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:618224 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Acute respiratory distress syndrome, Portal hype... |
OMIM:620005 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Renal agenesis, Hypospadias, Polysplenia, Renal dysplasia |
ORPHA:1335 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, High, narrow palate, Cryptorchidism |
ORPHA:2849 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Abnormality of the urinary system |
ORPHA:2204 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder, Optic neuritis, Myelitis |
ORPHA:71211 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Respiratory failure, Respiratory insufficiency, Micropenis |
ORPHA:370968 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Respiratory failure, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Hypospadias, Splenomegaly, Abnormality of the pancreas, Jaundice, ... |
OMIM:222470 |
Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron... |
OMIM:611560 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Cholestasis |
ORPHA:232 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Death in infancy, Neonatal respiratory distress, Splenomegaly, Jaundice, Respirator... |
OMIM:607625 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tracheoesophageal... |
ORPHA:1834 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... |
OMIM:619048 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:610717 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Leukopenia, Hepatic fibrosis, Bone marrow hy... |
OMIM:613989 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Recurrent... |
ORPHA:2970 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope... |
ORPHA:96092 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Organic aciduria |
OMIM:614741 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... |
ORPHA:48818 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Ascites, Renal hypoplasia/aplasia |
ORPHA:2123 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Death in infancy, Proteinuria, Renal c... |
OMIM:212065 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, Hepatomegaly, Abnormality of the liver, High palate |
ORPHA:254864 |
Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... |
OMIM:618892 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Aminoaciduria, Hy... |
OMIM:214110 |
Hereditary Spherocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi... |
ORPHA:261265 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Ascites, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Hepatomegaly, Cholestasis |
OMIM:609060 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... |
OMIM:614727 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly |
OMIM:615924 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat... |
OMIM:207900 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Res... |
OMIM:609015 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Hepatomegaly, Cirrhosis |
OMIM:602390 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... |
OMIM:613404 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... |
OMIM:300635 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit... |
OMIM:224230 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size |
OMIM:300534 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Gapo Syndrome |
|
Hepatomegaly, Hypoplastic nipples, Breast hypoplasia, Tubulointerstitial fibrosis |
OMIM:230740 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Renal hypoplasia, Abnormality of the live... |
ORPHA:84064 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Short stature, Proteinuria, Cryptorchidism, Chronic kidney disease... |
ORPHA:97362 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Portal vein hypoplasia, Ascites |
OMIM:619433 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:178320 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly |
OMIM:608540 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of the kidney, Jaundice, Hepatosplenomegaly |
ORPHA:79333 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis |
OMIM:618775 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... |
OMIM:619375 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Severe short stature, Respiratory insufficiency |
OMIM:313420 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... |
OMIM:130650 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal h... |
ORPHA:3015 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis |
ORPHA:70578 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Short stature, Intrahepatic cholestasis with... |
ORPHA:333 |
Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Pneumothorax, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Alpha-aminoadipic aciduria, ... |
OMIM:605711 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Pyloric stenosis |
ORPHA:664 |
Klatskin Tumor |
|
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Ascites, Steatorrhea, Hepat... |
ORPHA:75233 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati... |
ORPHA:552 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine |
OMIM:263700 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Renal cyst, Hepatic fibrosis, Nephropathy, Neonatal breathing ... |
OMIM:213300 |
H Syndrome |
|
Psoriasiform dermatitis, Short stature, Abnormality of the kidney, Bronchiectasis, Hepatosplenome... |
ORPHA:168569 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchial breath sound, ... |
ORPHA:449280 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Hepatomegaly, Renal insufficiency, Pancreatitis |
ORPHA:289916 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... |
OMIM:613101 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, Abnormality of the kidney, High, narrow palate, Biliary tract abnormality,... |
OMIM:209900 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Hyperthreoninuria |
OMIM:204000 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Proximal renal tubular acidosis |
OMIM:266150 |
Steinfeld Syndrome |
|
Absent gallbladder, Unilateral renal dysplasia |
OMIM:184705 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97261 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre... |
OMIM:215600 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory failure, Beta-aminoisobutyric aciduria, Respiratory ... |
OMIM:615330 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat... |
OMIM:261680 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... |
ORPHA:397596 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure |
OMIM:613489 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, 3-Methylglutaric ... |
OMIM:617248 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome, High palate, Ascites |
OMIM:269920 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... |
OMIM:618805 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, ... |
ORPHA:542323 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst,... |
OMIM:618188 |
Mitochondrial Myopathy, Infantile, Transient |
|
Macroglossia, Hepatomegaly |
OMIM:500009 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Renal hypoplasia, Respiratory insufficiency, Periportal fibrosis, Hyp... |
OMIM:269860 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Respirato... |
ORPHA:83313 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Sialidosis Type 2 |
|
Splenomegaly, Hepatomegaly, Nephropathy, Ascites |
ORPHA:87876 |
Meacham Syndrome |
|
Accessory spleen, Death in infancy, Horseshoe kidney, Stillbirth, Death in childhood, Neonatal de... |
OMIM:608978 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Chronic otitis media, Hepatomegaly, Respiratory failure, Splenomegaly |
ORPHA:3226 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Short stature, Hypospadias, Cryptor... |
ORPHA:912 |
Babesiosis |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Hepatic failure |
ORPHA:108 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the tonsils |
ORPHA:93476 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Renal salt wasting, Hypersplenism,... |
ORPHA:275761 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites |
ORPHA:858 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly, High palate |
OMIM:615637 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function |
OMIM:246900 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, High palate, Renal hypoplasia |
OMIM:619053 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Macroscopic hematuria, Dela... |
ORPHA:251004 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Renal insufficiency, Pancreatitis |
ORPHA:79312 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Classic Mycosis Fungoides |
|
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Splenomegaly, He... |
ORPHA:91138 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Seborrheic dermati... |
ORPHA:488618 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Strido... |
ORPHA:505248 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Listeriosis |
|
Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Infectious encephalitis, Pyel... |
ORPHA:533 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the ... |
ORPHA:264450 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites |
ORPHA:834 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Respiratory insufficiency, Cholestasis, Respiratory failure, Left ventricular... |
ORPHA:746 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Tachypnea, Hypoxe... |
ORPHA:555874 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria |
OMIM:604273 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Oral leukoplakia, Hepatic necrosis |
OMIM:127550 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspirator... |
OMIM:604320 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Hydronephrosis, Cryptorchidism |
OMIM:300712 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis |
OMIM:213700 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Nephrolithiasis |
ORPHA:352447 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Severe postnatal gro... |
OMIM:252500 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia |
OMIM:620210 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Jaundice, S... |
ORPHA:905 |
Verheij Syndrome |
|
Cleft palate, Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... |
OMIM:614376 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder,... |
ORPHA:2255 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Pulmonary Alveolar Microlithiasis |
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Hepatomegaly, Calcium nephrolithiasis, Increased pulmonary vascular resistance, Nonproductive cou... |
ORPHA:60025 |
Immunodeficiency 64 With Lymphoproliferation |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
Matthew-Wood Syndrome |
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Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Horsesho... |
ORPHA:2470 |
Adams-Oliver Syndrome |
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Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, Leukopenia, Cirrhosis, Ascite... |
ORPHA:974 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Urinary incontinence, Disp... |
OMIM:616482 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Growth delay, Abnormality of the liver, Respiratory failure, Hepat... |
ORPHA:88618 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy, Short stature, Mesomelic short stature, Polycystic kidney... |
OMIM:184260 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Renal tubular acidosis |
ORPHA:156 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Short stature, Polycystic kidney dysplasia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Cryptorchidism, Respiratory failure, Death in childhood, Micropenis |
OMIM:619847 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Pancreatitis |
ORPHA:27 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He... |
ORPHA:90062 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Bronchiectasis, Respiratory ... |
ORPHA:244 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Intrauterine growth retardation, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Cryptorchidism, Abnormal respiratory system physiology, Severe postnatal growth retard... |
ORPHA:98905 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Cleft palate, Abnormal localization of kidn... |
ORPHA:1988 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Short stature, Urinary incontinence, Stridor, Urinary urgency, Respiratory failure, Intercostal m... |
OMIM:606071 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation |
OMIM:618541 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Hors... |
OMIM:306955 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Snakebite Envenomation |
|
Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Acute kidney injury |
ORPHA:449285 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... |
OMIM:235200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ... |
OMIM:607330 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples... |
OMIM:618268 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Pleural Mesothelioma |
|
Hepatomegaly |
ORPHA:50251 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Hypospadias, Elevated circulatin... |
OMIM:614866 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Nephroblastoma, Urinary retention, Annular pancreas |
ORPHA:97297 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Ogden Syndrome |
|
Global glomerulosclerosis, Short stature, Eczema, Apnea, Cardiomegaly, Postnatal growth retardati... |
OMIM:300855 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo... |
ORPHA:79404 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Abnormality of the pancre... |
ORPHA:3376 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... |
OMIM:613845 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:99880 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, L-2-hydroxyglutaric aciduria, In... |
OMIM:615182 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Am... |
OMIM:616026 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Increased urine alpha-ketoglutarate... |
ORPHA:2394 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:3186 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:2414 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomega... |
ORPHA:158057 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure |
OMIM:617809 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:163979 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, High palate |
OMIM:614872 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Hepatomegaly, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in... |
OMIM:610505 |
Trisomy 10P |
|
Absent gallbladder, Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:143 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni... |
OMIM:614034 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis |
OMIM:607944 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ileu... |
ORPHA:83469 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... |
ORPHA:398124 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria |
OMIM:207800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas... |
ORPHA:116 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepat... |
ORPHA:14 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Hydronephrosis, High palate, Micropenis, Decreased testicular size |
OMIM:619185 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea... |
OMIM:113650 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Respiratory failure, Hydronephrosis, Cryptorchidism |
OMIM:620327 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia |
ORPHA:85212 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Growth delay, Respiratory failure,... |
OMIM:259720 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Esophageal ... |
OMIM:614576 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Cardiomegaly |
OMIM:252920 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... |
OMIM:618935 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc... |
ORPHA:508 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
Trisomy 13 |
|
Cryptorchidism, High, narrow palate, Patent ductus arteriosus, Abnormality of the ureter, Cleft p... |
ORPHA:3378 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia... |
ORPHA:2538 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Atelosteogenesis Type I |
|
Malrotation of colon, Multiple renal cysts, Abnormal pancreatic duct morphology, Cleft palate |
ORPHA:1190 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly |
OMIM:615704 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Thyroid dysgenesis, Respiratory distress, Neonatal respiratory distress, Shor... |
ORPHA:209905 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Braddock-Carey Syndrome 1 |
|
Anteriorly placed anus, Multicystic kidney dysplasia, Cleft palate |
OMIM:619980 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis |
ORPHA:73246 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Cleft palate, M... |
ORPHA:261290 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati... |
OMIM:618500 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Hydronephrosis |
OMIM:607598 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Microcephaly, Amish Type |
|
Hepatomegaly |
OMIM:607196 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Decreased liver function |
OMIM:602199 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Heparan sulfate excretion in urine, 3-Methylglutacon... |
OMIM:615273 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, High palate |
ORPHA:50812 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Patent ductus arteriosus, Clef... |
OMIM:220500 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly |
OMIM:601979 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly |
OMIM:619881 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenom... |
ORPHA:367 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Absent gallbladder, Biliary atresia, Glycosuria, Pancreatic hypoplasia |
OMIM:600001 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal varix, Hepato... |
ORPHA:2072 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... |
ORPHA:228305 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response t... |
OMIM:146510 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... |
ORPHA:158061 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficienc... |
OMIM:618278 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Apnea, Hypospadias, Splenomegaly,... |
OMIM:252010 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:99228 |
Monosomy X |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:99226 |
Turner Syndrome |
|
Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro... |
ORPHA:881 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate |
OMIM:618829 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Renal cortical cysts, Cleft palate, Renal cyst, Micropenis, Penile hypospadias |
ORPHA:1692 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis |
OMIM:613280 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Jaundice... |
ORPHA:1667 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Dilatation of the renal pelvis, Horseshoe ki... |
ORPHA:314588 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Hypoplasia of the thymus |
OMIM:300400 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Growth delay, Hematuria, ... |
ORPHA:77259 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Splenomegaly, Renal cyst, Respiratory failure, Hyperechogenic kidneys, Chronic si... |
OMIM:615636 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Congenital ... |
ORPHA:261344 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Supernumerary nipple, Trach... |
ORPHA:261494 |
Metatropic Dysplasia |
|
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... |
OMIM:156530 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Abdominal mass, Cystic renal dysplasia |
OMIM:615989 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Steatorrhea, High palate, Neutropenia, Hyperechogenic pancreas, ... |
OMIM:617941 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti... |
OMIM:251000 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury |
ORPHA:330021 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Nephropathy |
ORPHA:575 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid... |
OMIM:246450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Patent du... |
ORPHA:99776 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple s... |
OMIM:118450 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias |
ORPHA:2115 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Abnormal renal physiology, Micropenis, Urogenital sin... |
ORPHA:96176 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine |
OMIM:252900 |
Galactokinase Deficiency |
|
Hepatomegaly, Increased level of galactitol in urine, Hepatosplenomegaly |
ORPHA:79237 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... |
ORPHA:379 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... |
ORPHA:77293 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the ureter |
ORPHA:1133 |
Sézary Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Leigh Syndrome |
|
Eczema, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Growth delay, Renal tu... |
ORPHA:506 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly |
ORPHA:422 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, Pancreatic isle... |
ORPHA:263455 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Immunodeficiency 96 |
|
Growth delay, Multicystic kidney dysplasia, Recurrent otitis media, Eczema |
OMIM:619774 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Myocarditis, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ... |
ORPHA:563 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short stature, Cryptorchidism, Horseshoe kidney, Renal cyst, Intrauterine growth retardation |
ORPHA:166035 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Respiratory insufficiency due to muscle weaknes... |
ORPHA:18 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusion, Enlarged kid... |
OMIM:618280 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Renal hypoplasia, Multiple renal c... |
ORPHA:567 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Seborr... |
OMIM:300868 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol |
OMIM:229700 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral ren... |
ORPHA:2237 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Micropenis, Hepatomegaly, Hypospadias, Elevated circula... |
OMIM:243800 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu... |
OMIM:617666 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Renal insufficiency, Miscarriage, Decreased response to growth hor... |
ORPHA:96179 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary at... |
OMIM:115470 |
Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth... |
OMIM:219700 |
Digeorge Syndrome |
|
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Splenomegaly, Parathyroid h... |
OMIM:188400 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Micropenis |
OMIM:617925 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, High pa... |
OMIM:251290 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pne... |
ORPHA:340 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... |
ORPHA:3310 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... |
OMIM:170100 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Mucopolysacchariduria |
ORPHA:93474 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Abnormal renal morpholog... |
ORPHA:1655 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Cirrhosis, Ascites |
ORPHA:779 |
Malignant Atrophic Papulosis |
|
Peritonitis, Respiratory failure, Arteritis, Pleural effusion, Abnormality of the lower urinary t... |
ORPHA:679 |
Joubert Syndrome 14 |
|
Cleft palate, Renal cyst |
OMIM:614424 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ascites, Abnormal renal corticomedullary differentia... |
OMIM:617397 |
Sialuria |
|
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Increased level of N-... |
OMIM:269921 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Cleft palate, Ascites, H... |
OMIM:235255 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly |
ORPHA:33577 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular... |
ORPHA:444013 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Respiratory insufficiency, ... |
OMIM:617260 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Respiratory insufficiency, Stillbirth |
OMIM:616300 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopol... |
OMIM:618440 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... |
OMIM:257220 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy |
OMIM:612387 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Short stature, Hypospadias, Nephroblastoma, Postnatal growth retard... |
OMIM:257300 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... |
OMIM:615381 |
Alagille Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Cholestasis, N... |
ORPHA:52 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Intestinal m... |
OMIM:229850 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Pituitary adenoma, Esophageal atr... |
ORPHA:96149 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Lymphadeno... |
ORPHA:540 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice |
OMIM:613839 |
Zttk Syndrome |
|
Absent gallbladder, Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Megacystis, Mi... |
ORPHA:2241 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Autoimmune hemolytic anemia, Chronic lymphatic leukemia |
ORPHA:90033 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory insufficiency due to mus... |
ORPHA:365 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Hyperechogenic kidneys, Bilateral renal hypoplasia, Exocrine pancreatic insufficiency |
OMIM:619695 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, High palate, Hydronephrosis |
ORPHA:1297 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney |
OMIM:261740 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Eczema, Supernumerary nipple, Tracheomalacia, Nephro... |
ORPHA:1001 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy |
ORPHA:3386 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate |
OMIM:605309 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hepatomegaly, Micropenis |
OMIM:618810 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Klippel-Trénaunay Syndrome |
|
Hematuria, Hepatomegaly, Ascites |
ORPHA:90308 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Orthopnea, Postnatal growth retardation, Dyspnea, Pulmonary venous hypertension |
ORPHA:75249 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cirrhosis, Hep... |
ORPHA:465508 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Multicystic kidney dysplasia, Short stature, Tra... |
ORPHA:1393 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia |
OMIM:617866 |
Majeed Syndrome |
|
Hepatomegaly, Glomerulopathy, Proteinuria, Malabsorption, Splenomegaly, Microscopic hematuria |
ORPHA:77297 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure |
OMIM:618804 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Left ventricular h... |
OMIM:617713 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:435660 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... |
ORPHA:2059 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Hypospadias, Micropenis |
ORPHA:171430 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure, Hydronephrosis |
ORPHA:254528 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Pancreatoblastoma |
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Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Joubert Syndrome 2 |
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Renal insufficiency, High palate, Renal cyst, Nephronophthisis |
OMIM:608091 |
Mucopolysaccharidosis, Type Iiic |
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Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine |
OMIM:252930 |
Riddle Syndrome |
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Short stature, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Enuresis nocturna, Arthritis, R... |
ORPHA:420741 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Congenital hepat... |
ORPHA:93271 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hepatic steatosis |
OMIM:212138 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... |
OMIM:615873 |
Hyperparathyroidism, Neonatal Severe |
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Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Mcleod Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hematuria, Focal segmental ... |
OMIM:232240 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Adams-Oliver Syndrome 5 |
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Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
Subaortic Stenosis-Short Stature Syndrome |
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Biliary tract abnormality |
ORPHA:3191 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:909 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Renal cyst |
OMIM:615560 |
Wilson Disease |
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Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Elevat... |
OMIM:277900 |
Cornelia De Lange Syndrome 1 |
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Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, narrow pala... |
OMIM:122470 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
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Respiratory distress, Respiratory failure |
OMIM:620166 |
Joubert Syndrome 8 |
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Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Oculocerebrofacial Syndrome, Kaufman Type |
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Growth delay, Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2707 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Cle... |
OMIM:618454 |
Trisomy 20P |
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Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Respiratory failure requiring assisted ventilation, Neurogenic bladder, Urinary incontinence, Rec... |
ORPHA:496641 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypoparathyroidism, High, narrow palate, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ne... |
ORPHA:369837 |
Amish Lethal Microcephaly |
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Hepatomegaly, Organic aciduria, Cleft soft palate |
ORPHA:99742 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
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Respiratory failure, Short stature |
ORPHA:1861 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Neonatal respiratory distress, Hypospadias, Supernumerary nipple, Splenomegaly, Cry... |
OMIM:312870 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Splenomegaly, Leukocytosis |
OMIM:618042 |
Proximal Spinal Muscular Atrophy |
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Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
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Renal cyst, Horseshoe kidney |
OMIM:250410 |
Williams Syndrome |
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Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Crypto... |
ORPHA:904 |
Common Variable Immunodeficiency |
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Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st... |
ORPHA:1572 |
Citrullinemia, Classic |
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Hepatomegaly, Oroticaciduria, Cirrhosis |
OMIM:215700 |
Bloom Syndrome |
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Recurrent urinary tract infections, Skin rash, Pneumonia, Chronic pulmonary obstruction, Cheiliti... |
ORPHA:125 |
Marden-Walker Syndrome |
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Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Pyloric st... |
ORPHA:464306 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Congenital Disorder Of Glycosylation, Type If |
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Death in infancy, Renal cortical cysts, Erythroderma |
OMIM:609180 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... |
ORPHA:97283 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Decreased prop... |
OMIM:618394 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Short stature, Apnea, Cryptorchidism, Hydronephrosis |
ORPHA:85201 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular hypertrophy, Hepatomegaly, Ketonuria, Lacticaciduria |
OMIM:619167 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pos... |
ORPHA:464311 |
Al Amyloidosis |
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Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... |
ORPHA:85443 |
Muscular Dystrophy, Duchenne Type |
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Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine |
OMIM:607015 |
Proximal 16P11.2 Microdeletion Syndrome |
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Pyloric stenosis, Multicystic kidney dysplasia, Cleft palate |
ORPHA:261197 |
Tetraamelia-Multiple Malformations Syndrome |
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Cryptorchidism, Multicystic kidney dysplasia, Anal atresia |
ORPHA:3301 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Furrowed tongue, High palate, ... |
OMIM:616975 |
Smith-Lemli-Opitz Syndrome |
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Renal cyst, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatomegaly, Death in infanc... |
OMIM:270400 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Penile Agenesis |
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Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... |
ORPHA:49 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Shwachman-Diamond Syndrome 1 |
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Elevated hepatic transaminase, Hepatomegaly, Nephrocalcinosis, Steatorrhea, Exocrine pancreatic i... |
OMIM:260400 |
C Syndrome |
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Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Renal cortical cysts, High palate |
OMIM:211750 |
Peroxisome Biogenesis Disorder 4B |
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Hepatomegaly, Decreased liver function, Ureterocele |
OMIM:614863 |
Autoinflammation With Arthritis And Dyskeratosis |
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Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Glutaric Acidemia I |
|
Hepatomegaly, Glutaric aciduria, Ketonuria |
OMIM:231670 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Renal cyst, Cleft palate, Polycystic ovaries |
ORPHA:137675 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hepatomegaly, Intestinal obstruction, Malabsorption, Abnormal intestine morphology, Intestinal ly... |
OMIM:226300 |
Khan-Khan-Katsanis Syndrome |
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Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Hepatic failure |
ORPHA:159 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Severe short stature, Hypospadias, Cryptorchidism, Dys... |
ORPHA:2554 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Lym... |
OMIM:617591 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Growth delay, Respiratory failure, Atopic dermatitis |
ORPHA:3240 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice, Splenomega... |
OMIM:603553 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Reynolds Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Renal steatosis |
ORPHA:412 |
Phelan-Mcdermid Syndrome |
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Abnormality of the kidney, Patent ductus arteriosus, High palate, Polycystic kidney dysplasia, Ve... |
OMIM:606232 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Reduced renal corticomedullary differentiation, Multiple renal ... |
OMIM:618733 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Ventriculomegaly With Cystic Kidney Disease |
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Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
Mpdu1-Cdg |
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Decreased response to growth hormone stimulation test, Renal cortical cysts |
ORPHA:79323 |
Familial Adenomatous Polyposis |
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Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla... |
ORPHA:733 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Adenoma sebaceum, Renal cyst |
OMIM:191100 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Ren... |
OMIM:117650 |
Hereditary Fructose Intolerance |
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Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Chronic hepatic failure |
ORPHA:469 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Hepatosplenomegaly, U... |
ORPHA:79124 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, High palate, Decreased testic... |
ORPHA:261349 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Polycystic kidney dyspl... |
OMIM:236700 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia... |
ORPHA:373 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, High palate, Reduced pancreatic beta cells |
OMIM:226980 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice... |
OMIM:229600 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Pn... |
ORPHA:3404 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Malabs... |
ORPHA:97282 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Renal cyst |
OMIM:617478 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly |
OMIM:231005 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Ovarian car... |
ORPHA:273 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arte... |
ORPHA:2092 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypertrophy, Ascites |
ORPHA:57777 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Pagod Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Abnormal... |
ORPHA:991 |
16P12.1P12.3 Triplication Syndrome |
|
Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Decreased response to growt... |
ORPHA:485405 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba... |
OMIM:613254 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Joubert Syndrome 39 |
|
Hypopnea, Polycystic kidney dysplasia |
OMIM:619562 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem... |
ORPHA:31826 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... |
ORPHA:64 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Cryptorchidism, Disproportionate short stature, Renal hypoplasia, Renal cyst, R... |
OMIM:210710 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Renal insufficiency, Short stature, Apnea, Supernumerary nipple, H... |
ORPHA:397715 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Renal cyst, High p... |
OMIM:102500 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Pyloric stenosis, Ab... |
ORPHA:1606 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Dyspnea, Renal angiomyolipoma, Pneumothorax, Hematuria, R... |
ORPHA:538 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia |
ORPHA:729 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Short stature |
ORPHA:280210 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P... |
OMIM:608594 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Aganglionic megacolon, Nephroblastoma, Abnormality of the ureter, Neph... |
ORPHA:798 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... |
ORPHA:97280 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Respiratory insufficiency, Pulmonary arterial hypertension, Respirator... |
ORPHA:258 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Methylmalonic aciduria |
OMIM:275350 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Organic aciduria |
OMIM:253260 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Splenomegaly, Jaundice, Respiratory insufficiency, Hepatosplenomegaly, Abnormality ... |
ORPHA:646 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Neutrophilia |
OMIM:612852 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El... |
OMIM:251100 |
Familial Mediterranean Fever |
|
Hepatomegaly, Orchitis, Splenomegaly, Peritonitis, Stage 5 chronic kidney disease, Nephrotic synd... |
OMIM:249100 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnorm... |
ORPHA:158048 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bilateral renal dysplasia, Absent gallbladder, Unilateral renal agenesis, Horseshoe kidney |
ORPHA:500150 |
Jacobsen Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Short stature, Eczema, Cryptorchidism, Growth del... |
ORPHA:2308 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea... |
OMIM:602782 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Respiratory failure, Cardiomegaly |
ORPHA:158687 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis |
ORPHA:98907 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnormalit... |
OMIM:261540 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Short stature, Miscarriage, Postnatal growth retardation, Cryptorchidism, Hepatospl... |
ORPHA:96334 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Infectious encephalitis,... |
ORPHA:2912 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematur... |
ORPHA:781 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic ... |
ORPHA:534 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P... |
OMIM:269700 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Malabsorption, High palate, Prolonged neonatal jaundice |
OMIM:233600 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, ... |
OMIM:200980 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocarditis, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Esopha... |
ORPHA:3342 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Hyperechogen... |
OMIM:605039 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Renal hypo... |
ORPHA:818 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ... |
OMIM:164280 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cleft palate, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia |
OMIM:616546 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Multicystic kidney dysplasia, Intestinal malrotation, Patent ductus arteriosus, Cl... |
OMIM:300373 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Severe short stature, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2636 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Cleft ... |
ORPHA:955 |
Floating-Harbor Syndrome |
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Hypospadias, Renal agenesis, Celiac disease, Cryptorchidism, Dilatation of the renal pelvis, Stag... |
ORPHA:2044 |
Cutis Marmorata Telangiectatica Congenita |
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Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Mosaic Variegated Aneuploidy Syndrome |
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Intestinal polyposis, Multicystic kidney dysplasia, Cleft palate, Colon cancer, Stomach cancer, N... |
ORPHA:1052 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Aminoaciduria, Hyperlysinuria, Orotic... |
OMIM:222700 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Annular pancreas, High palate |
OMIM:618162 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries |
OMIM:151660 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Splenomegaly, Hepatomegaly, Aplasia of the sweat glands |
OMIM:612132 |
Spondylocarpotarsal Synostosis Syndrome |
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Cleft palate, Renal cyst |
OMIM:272460 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Splenomegaly, Hepatomegaly, Renal artery atherosclerosis, Pancreatitis |
ORPHA:565612 |
Cystinosis, Nephropathic |
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Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Stage ... |
OMIM:219800 |
Distal Deletion 15Q |
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Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorch... |
ORPHA:1596 |
Otopalatodigital Syndrome, Type Ii |
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Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Respiratory insufficien... |
OMIM:304120 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Increased urinary glycerol, Jaundice, Cho... |
ORPHA:247598 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Death in infancy, Multicystic kidney dysplasia, Short stature, Eczema, Recurrent skin infections,... |
OMIM:308205 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Abnormal penis morphology, Severe short stature, Hypospadias, Dyspnea, Epis... |
ORPHA:2556 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Cryptorchidism, Esophageal atresia, Reticulocytopenia, Tracheoesophageal fistula, A... |
OMIM:227646 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Anteriorly placed anus, Cryptorchidism, Hypospadias, Renal cyst |
ORPHA:495875 |
Autosomal Recessive Robinow Syndrome |
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Death in infancy, Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Disproportio... |
ORPHA:1507 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Ab... |
ORPHA:79318 |
Neutral Lipid Storage Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Pineal cyst, Cholecystitis, He... |
ORPHA:98908 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morphology |
ORPHA:363618 |
Nijmegen Breakage Syndrome |
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Pollakisuria, Respiratory failure, Recurrent pneumonia, Short stature |
ORPHA:647 |
Congenital Fiber-Type Disproportion Myopathy |
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Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... |
ORPHA:2020 |
Familial Mediterranean Fever |
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Acute hepatic failure, Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis... |
ORPHA:342 |
Myhre Syndrome |
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Short stature, Cryptorchidism, Respiratory insufficiency, Birth length less than 3rd percentile, ... |
OMIM:139210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Respiratory failure |
OMIM:616538 |
Bickerstaff Brainstem Encephalitis |
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Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Neuroendocrine Neoplasm Of Appendix |
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Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Midgut malrotation, Ovarian neopla... |
ORPHA:100079 |
Roberts Syndrome |
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Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplasia |
ORPHA:3103 |
C Syndrome |
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Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Cleft p... |
ORPHA:1308 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Rectoperineal fistula, Ect... |
ORPHA:857 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob... |
ORPHA:91500 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Hypospadias, Postnatal growth retardation, Cryptorchidism, Long penis, Biliary ... |
OMIM:268300 |
Robinow Syndrome |
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Multicystic kidney dysplasia, Cryptorchidism, Webbed penis, Micropenis, Bifid tongue, Ankylogloss... |
ORPHA:97360 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Intestinal perforation, Xerost... |
ORPHA:95455 |
Costello Syndrome |
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Renal insufficiency, Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure,... |
OMIM:218040 |
Jacobsen Syndrome |
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Cryptorchidism, Annular pancreas, Pyloric stenosis, Thrombocytopenia |
OMIM:147791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Femoral-Facial Syndrome |
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Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Cleft palate, Polycy... |
OMIM:134780 |
Townes-Brocks Syndrome 1 |
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Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Anal stenosis, Re... |
OMIM:107480 |
Fraser Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Cryptorchidism, Re... |
ORPHA:2052 |
Rothmund-Thomson Syndrome, Type 2 |
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Anteriorly placed anus, Cryptorchidism, Annular pancreas, High palate |
OMIM:268400 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl... |
ORPHA:709 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... |
OMIM:265380 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Splenomegaly, Hepatomegaly, Aplasia of the epiglottis, Horseshoe kidney |
OMIM:617088 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the gallbladder, Abnormali... |
ORPHA:280 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature, Cardiomegaly |
ORPHA:1677 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle, Horseshoe kidney, Ectopic kidney |
OMIM:600901 |
Cornelia De Lange Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Intestinal m... |
ORPHA:199 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, R... |
ORPHA:744 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle, Horseshoe kidney, Ectopic kidney |
OMIM:227650 |
Genitopatellar Syndrome |
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Multicystic kidney dysplasia, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anterior... |
OMIM:606170 |
Branchiooculofacial Syndrome |
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Hypospadias, Renal agenesis, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ... |
OMIM:113620 |
Fanconi Anemia, Complementation Group C |
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Prolonged G2 phase of cell cycle, Horseshoe kidney, Ectopic kidney |
OMIM:227645 |
Mowat-Wilson Syndrome |
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Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Aganglionic megacolon, Asplenia,... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni... |
ORPHA:261552 |
Pallister-Killian Syndrome |
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Renal dysplasia, Anal stenosis, Hypospadias, Intestinal malrotation, Supernumerary nipple, Crypto... |
OMIM:601803 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Cleft pal... |
OMIM:164210 |