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 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... |
OMIM:614377 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... |
OMIM:602347 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat... |
OMIM:607361 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts |
OMIM:211890 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph... |
OMIM:602114 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... |
OMIM:208540 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:616307 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... |
ORPHA:3032 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Meckel Syndrome, Type 7 |
|
Hepatosplenomegaly, Multicystic kidney dysplasia, Cholestasis, Multiple glomerular cysts, Portal ... |
OMIM:267010 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,... |
OMIM:604387 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Cleft palate, Hepatic cysts, Absent gallbladder, Renal cyst, Hepatic fibr... |
OMIM:612284 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Renal insufficiency, Decreased glomerular filtration rate, Hepati... |
OMIM:618061 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... |
OMIM:619662 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Spontaneous pneumothorax, Jaund... |
ORPHA:731 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Green urine, Cholestasis |
OMIM:614156 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Hepatomegaly, Multiple renal cysts, Abnormality of the pancreas |
ORPHA:2924 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, A... |
OMIM:618999 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst, Ascites |
OMIM:174050 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst, Cleft palate |
OMIM:611561 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Stillbirth, Hepatic cysts |
OMIM:263630 |
Porphyria Cutanea Tarda, Type I |
|
Porphyrinuria, Hepatic fibrosis |
OMIM:176090 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba... |
OMIM:613159 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Short stature, Polycystic liver disease, Pancreatic fibrosis, ... |
OMIM:208500 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Abnormality of the ki... |
ORPHA:480520 |
Meckel Syndrome, Type 2 |
|
Cleft palate, Intestinal malrotation, Renal cyst, Meningocele, Bile duct proliferation |
OMIM:603194 |
Mirizzi Syndrome |
|
Cholelithiasis, Dark urine, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga... |
ORPHA:521219 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic... |
OMIM:613095 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase |
OMIM:300752 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Esophageal varix, ... |
OMIM:618955 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Peritoneal... |
ORPHA:400 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Campomelia, Cumming Type |
|
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Multiple renal cysts, Abnormality of th... |
ORPHA:1318 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycys... |
OMIM:610199 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas |
ORPHA:438274 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Hepatocel... |
ORPHA:369 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Fibrosclerosis, Multifocal |
|
Thyroiditis, Retroperitoneal fibrosis, Sclerosing cholangitis, Abnormality of the liver |
OMIM:228800 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fibrosis |
ORPHA:446 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Dark yellow urine, Splenomegaly, Cir... |
ORPHA:30391 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... |
ORPHA:53035 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Stillbirth,... |
OMIM:615415 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619874 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst, Cleft palate, Meningocele |
OMIM:611134 |
Alveolar Echinococcosis |
|
Abnormality of bladder morphology, Decreased liver function, Abnormal spleen morphology, Hepatic ... |
ORPHA:284 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic ki... |
OMIM:616629 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... |
OMIM:200995 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... |
OMIM:231100 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Jaundice, Splenomegaly |
OMIM:224100 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Renal cyst, Hepatomegaly |
OMIM:614870 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibro... |
OMIM:619111 |
Immunodeficiency 56 |
|
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... |
OMIM:615207 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Abnormality of the liver, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Tubulointerstitial fibrosis, Portal hypertension |
OMIM:232500 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr... |
ORPHA:3156 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Cirrhosis,... |
ORPHA:84081 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Argininosuccinic aciduria, Elevated circulating alanine a... |
OMIM:603471 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst, Multinodular goiter |
OMIM:138790 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Immune Deficiency Disease |
|
Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Renal insufficiency, Respiratory failure |
ORPHA:890 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glo... |
OMIM:619858 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Elevated hepatic trans... |
ORPHA:562639 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, Cryptorchidism |
OMIM:613861 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism |
OMIM:613730 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure |
ORPHA:466794 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Caroli Disease, Isolated |
|
Cholangitis, Hepatomegaly, Liver abscess, Portal hypertension |
OMIM:600643 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa... |
OMIM:613550 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Neonatal death, Renal cyst, Renal hypoplasia, Respiratory failure |
OMIM:228940 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... |
ORPHA:64744 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren... |
OMIM:615993 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Esophag... |
OMIM:301068 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma... |
OMIM:232220 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice, Exercise-induced myoglobinuria |
OMIM:232800 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Bare Lymphocyte Syndrome, Type Ii |
|
Colitis, Viral hepatitis, Recurrent urinary tract infections, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Immunodeficiency 92 |
|
Osteomyelitis, Hepatomegaly, Sclerosing cholangitis, Cholangitis, Pneumonia, Esophagitis |
OMIM:619652 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Cirrhosis, Renal cyst, Villous atrophy, Hepatic fibro... |
OMIM:602579 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Hepatic cys... |
ORPHA:100085 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephr... |
OMIM:216360 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Multiple renal cysts, Renal cell ... |
OMIM:193300 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Alpha-Thalassemia |
|
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly |
ORPHA:846 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis |
OMIM:616263 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Plin1-Related Familial Partial Lipodystrophy |
|
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... |
ORPHA:79301 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... |
OMIM:601346 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:619386 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Renal hypoplasia, Hepatic fibrosis, Esophageal varix, Portal hypertension |
OMIM:616589 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly |
OMIM:232400 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Acute hepatic failure |
ORPHA:882 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... |
OMIM:557000 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension |
OMIM:617068 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Respiratory distress, Hepatomegaly, Cryptorchidism, Micropenis, Eczema, Pancreati... |
ORPHA:83617 |
Arima Syndrome |
|
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... |
OMIM:243910 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abnormality of the ly... |
ORPHA:464329 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice |
OMIM:613470 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Hepatomegaly, Respiratory failure, Death in infancy |
OMIM:614862 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... |
OMIM:615630 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoacidur... |
OMIM:231680 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spleen, Multicysti... |
ORPHA:564 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Hepatomegaly |
OMIM:614882 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... |
OMIM:615862 |
Joubert Syndrome 9 |
|
Episodic tachypnea, Apnea, Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth... |
OMIM:618329 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Lambert Syndrome |
|
Hypospadias, Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice |
ORPHA:79234 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:222800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
D-Bifunctional Protein Deficiency |
|
High palate, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal cyst, ... |
OMIM:261515 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Rft1-Cdg |
|
Hepatomegaly |
ORPHA:244310 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Hepatitis, Jaundice |
OMIM:194380 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Respiratory failure, Neonatal death |
OMIM:301021 |
Cholangiocarcinoma |
|
Acholic stools, Biliary tract neoplasm, Jaundice |
ORPHA:70567 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Congenital hepatic fibrosis, Renal insufficiency, Displacement of the urethr... |
ORPHA:2377 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Jaundice, Cholangitis |
OMIM:607626 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
Hemochromatosis Type 2 |
|
Elevated hepatic transaminase, Abnormality of endocrine pancreas physiology, Congenital hepatic f... |
ORPHA:79230 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Hepatomegaly, Death in infancy, Splenomegaly |
ORPHA:139406 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom... |
ORPHA:85450 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Asthma, Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthrit... |
ORPHA:183675 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Short stature, Death in childhood, Cholestasis... |
OMIM:618641 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... |
OMIM:619991 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Chronic lung disease, Hepatiti... |
ORPHA:228426 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Oligoarthritis, Pustule, Cholangitis |
OMIM:614204 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:235700 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, High palate, Cleft palate, Ovarian cyst, Bifid tongue, Lobulated tongue, Hepati... |
OMIM:311200 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Intrauterine growth retardation, Disproportionate short-limb short stat... |
ORPHA:1505 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis |
OMIM:231530 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Immunodeficiency 54 |
|
Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, ... |
OMIM:609981 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hyperoxaluria |
OMIM:601539 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Duplica... |
OMIM:617093 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Microvesicular hepatic steatosis, Aminoaciduria, Cholestasis, Elevated ... |
OMIM:124000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:615158 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Long-chain dicarboxylic aciduria, Hepatic... |
OMIM:608836 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... |
OMIM:145001 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Intrauterine growth retardation, Methylmalonic aciduria, Respiratory insufficiency, Elevated circ... |
OMIM:245400 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Median cleft lip a... |
ORPHA:699 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Intestinal malrotation, Pancreatic fibrosis, Hamartoma of tongue, Polycystic kidney... |
OMIM:263520 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice |
ORPHA:60 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Hepatomegaly, Nephronophthisis, Reduced renal corticomedullary differentiation, Macr... |
OMIM:266920 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cho... |
OMIM:214900 |
Alagille Syndrome 2 |
|
Cholestatic liver disease, Renal tubular acidosis, Hematuria, Cholestasis, Renal cyst, Renal hypo... |
OMIM:610205 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Jaundice, Splenomegaly |
OMIM:182900 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice |
OMIM:614876 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst, Cryptorchidism |
OMIM:615982 |
Fanconi Anemia, Complementation Group O |
|
Miscarriage, Short stature, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Cryptor... |
OMIM:613390 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Hepatic fibrosis, Protein-losing enteropathy, Portal hype... |
ORPHA:79319 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:110 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing ch... |
OMIM:308230 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormali... |
ORPHA:234 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Hepatomegaly, Respiratory failure, Death in infancy |
OMIM:614299 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Necrotizing enter... |
OMIM:201475 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Tracheomalacia, Abnormal liver lobulation, Respiratory in... |
OMIM:608022 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Hypoxemia, Skin rash, Rheumatoid arthritis, Eczema, ... |
ORPHA:79128 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly |
ORPHA:848 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... |
ORPHA:2552 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Anal atresia, Eosinophilia, Lymphopenia, Hepatic cysts |
OMIM:617425 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Intrauterine growth retardation, Hepatomegaly, Hypospadias, Abnormality of the kidney, 3-Methylgl... |
ORPHA:1194 |
Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Spinal Muscular Atrophy, Type I |
|
Death in childhood, Respiratory insufficiency, Respiratory failure |
OMIM:253300 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice |
OMIM:266200 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Death in childhood, Neonatal death, Cholestasis, Hepatic fibrosis, Death in infancy, G... |
OMIM:609313 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Steatorrhea, Cholestasis, Elevat... |
ORPHA:79303 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:619481 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Jaundice |
OMIM:603903 |
3-Methylglutaconic Aciduria Type 1 |
|
3-Methylglutaconic aciduria, Hepatomegaly |
ORPHA:67046 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Short stature, Respiratory insufficiency, Multicystic kidney dysplasia, Congenital hepatic fibros... |
ORPHA:2031 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... |
ORPHA:370 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepat... |
ORPHA:541423 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Median cleft palate |
ORPHA:2432 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Aminoaciduria, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated circ... |
OMIM:615486 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Cranioectodermal Dysplasia 2 |
|
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Left ventricular hypertrophy, Cholestasis,... |
OMIM:613610 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhos... |
ORPHA:231222 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl... |
ORPHA:572 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:618913 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Prostatitis, Abnormality of the kidney, Abnormal sali... |
ORPHA:449432 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic kidney dysplasia, Nephro... |
ORPHA:1909 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Abnormality of the urinary system, Cough, Respiratory failure requiring ass... |
ORPHA:90117 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Short stature,... |
OMIM:232200 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate |
ORPHA:3316 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Respiratory failure, Death in infancy, Hydronephrosis |
OMIM:618240 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevated hepatic transaminas... |
OMIM:613812 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pituitary adenoma, Chronic kidney disease, Parathyroid adenoma, Renal angio... |
ORPHA:805 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Hepatit... |
ORPHA:436252 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... |
OMIM:619487 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix |
OMIM:613490 |
Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Respiratory failure |
OMIM:619887 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamines, Multiple renal cysts, Renal cell carci... |
ORPHA:892 |
Cranioectodermal Dysplasia 1 |
|
High palate, Chronic kidney disease, Hepatomegaly, High, narrow palate, Hepatic failure, Stage 1 ... |
OMIM:218330 |
Donohue Syndrome |
|
Ovarian cyst, Cholestasis, Long penis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Postn... |
OMIM:246200 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Hepatomegaly, Respiratory failure, Death in infancy |
OMIM:610678 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Ileoileal intussusception, Chol... |
OMIM:619377 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cholestasis |
ORPHA:570422 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Hypospadias, Short uvula, Renal cyst, Polycystic kidney dysplasia, Hep... |
OMIM:614091 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Esophageal varix, Jaundice |
ORPHA:75234 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Renal cyst, Decreased liver function, Multiple renal cysts |
OMIM:614883 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Conjunctivitis, Nonproductive cough, Myelitis, Tachypnea, Coug... |
ORPHA:454836 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Abnormalit... |
ORPHA:1414 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, 3-Methylglutaric aciduria, Acute pancreatitis, Elevated h... |
ORPHA:26791 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated circulating aspart... |
OMIM:619525 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Elevated hepatic transaminase |
ORPHA:79095 |
Alg9-Cdg |
|
Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplasia of th... |
ORPHA:79328 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter, Abnormality of the spleen, Respiratory insufficiency |
ORPHA:2487 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Orofaciodigital Syndrome Type 1 |
|
High palate, Exocrine pancreatic insufficiency, Cleft palate, Multicystic kidney dysplasia, Abnor... |
ORPHA:2750 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... |
OMIM:300972 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, Cholestasis, Hepato... |
ORPHA:264580 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... |
OMIM:618528 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Ascites, L... |
ORPHA:100025 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy |
ORPHA:3033 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Bifid uvula, Cyst of the ductus choledochus |
OMIM:619480 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Severe short stature, Aspiration pneumonia, Neonatal respiratory... |
OMIM:619057 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Renal cyst, Malformation of the hepatic ductal plate, Micropenis |
OMIM:614175 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Asthma, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Spleno... |
ORPHA:3260 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Microgastria-Limb Reduction Defects Association |
|
Unilateral renal agenesis, Splenogonadal fusion, Cystic renal dysplasia, Biliary tract abnormalit... |
OMIM:156810 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, 3-Methylglutaconic aciduria, Death in infancy, Growth delay, Respiratory failure |
OMIM:617248 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Elevated hepatic transaminase, Renal tubular dysfunction, Hepatic failure |
OMIM:614886 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Polycystic ovaries, Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenom... |
OMIM:617303 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cryptorchidism, Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weak... |
OMIM:611890 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Cystic Fibrosis |
|
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis |
ORPHA:586 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Meckel Syndrome, Type 1 |
|
Anal atresia, Cleft palate, Splenomegaly, Intestinal malrotation, Renal agenesis, Abnormality of ... |
OMIM:249000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Decreased liver function, Respiratory distress, Hepatomegaly, Aminoaci... |
OMIM:220110 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Exocrine pancreatic insufficiency, Unilateral renal agenesis, Abnormality of the... |
OMIM:137920 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cyst of the ductus choledochus, Short stature, Renal dysplasia, Hypoplastic... |
ORPHA:480880 |
Sialuria |
|
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly |
ORPHA:3166 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Cholecystitis, Elevated circulating a... |
OMIM:611881 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Short stature, Nephropathy, Gout, Focal segmental glomerulosclerosis, Ren... |
OMIM:617056 |
Primary Biliary Cholangitis |
|
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis, Portal hyperte... |
ORPHA:186 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Hepatosplenomegaly, Ureteral duplication, Patent ductus arteriosus, Horseshoe kidne... |
OMIM:274000 |
Joubert Syndrome With Hepatic Defect |
|
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Multi... |
ORPHA:1454 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Decreased liver function, Intestinal malrotation, Cirrhosis, Recurrent urinary tract... |
OMIM:613658 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Crackles, Cough, Restrictive ventilatory defect, Glomerulonephr... |
ORPHA:99931 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Enlarged poly... |
ORPHA:2869 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice |
OMIM:243300 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma... |
OMIM:601847 |
Lambert Syndrome |
|
Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Nephrocalcinosis, Asplenia |
OMIM:240300 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... |
ORPHA:79240 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Porphyria Cutanea Tarda |
|
Porphyrinuria, Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma,... |
ORPHA:101330 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Jaundice, Cholestasis |
OMIM:614887 |
Citrullinemia Type Ii |
|
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic fibr... |
ORPHA:247585 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:618224 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Short stature, Respiratory insufficiency, Multiple renal cysts, Cryptor... |
ORPHA:1166 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Splenomegaly, Respiratory insufficiency, Death in adolescen... |
OMIM:615512 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in childhood, Neonatal death, Death in infancy, Respiratory failure |
OMIM:619334 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... |
ORPHA:231226 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation |
ORPHA:1832 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevat... |
OMIM:607765 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice |
OMIM:618549 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Myoglobinuria, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepat... |
ORPHA:71212 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension |
OMIM:615878 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Neph... |
ORPHA:445038 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Esophag... |
OMIM:619534 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst, Cleft palate |
OMIM:231060 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged... |
ORPHA:79259 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth |
OMIM:236500 |
Gapo Syndrome |
|
Breast hypoplasia, Hypoplastic nipples, Hepatomegaly, Tubulointerstitial fibrosis |
OMIM:230740 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Periportal fibrosis |
OMIM:263210 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Severe postnatal growth r... |
OMIM:620005 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:276700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Inflammation of the large i... |
OMIM:615895 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Respiratory insufficiency, Renal hypoplasia, Respiratory failure |
OMIM:276950 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecy... |
ORPHA:131 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Distal Trisomy 5Q |
|
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism |
ORPHA:96097 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... |
ORPHA:231214 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Cryptorchidism, Respiratory failure, Micropenis |
ORPHA:370968 |
Joubert Syndrome 20 |
|
Respiratory insufficiency, Renal cyst |
OMIM:614970 |
Dpm1-Cdg |
|
Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fib... |
ORPHA:79322 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Sialadenitis, Pancreatitis, Orchitis, Prostatitis, Abnormality of the kidne... |
ORPHA:449563 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Renal insufficiency, Res... |
ORPHA:79327 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating... |
OMIM:619048 |
Propionic Acidemia |
|
Organic aciduria, Hepatomegaly |
ORPHA:35 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Central sleep apnea, Respiratory failure, Hepatic steatosis, Obstructiv... |
ORPHA:70472 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Hydronephrosis, Asplenia |
ORPHA:210122 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Pfapa Syndrome |
|
Malabsorption, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Nephrolithiasis, Hepatic failure, Cirrhosis, Hematuria, Cholecystitis, Portal hyp... |
ORPHA:774 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Abnormality of endocrine pancreas p... |
ORPHA:93111 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Ascites, Hepatomegaly, Abnormal large intestine morphology |
ORPHA:2198 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Elevated hepatic transaminase, Intrahep... |
OMIM:235555 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly, Respiratory failure |
ORPHA:363400 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder, Myelitis, Optic neuritis, Respiratory failure |
ORPHA:71211 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... |
OMIM:602522 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Perlman Syndrome |
|
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate |
ORPHA:2849 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Pentalogy Of Cantrell |
|
Renal agenesis, Hypospadias, Renal dysplasia, Absent gallbladder, Polysplenia |
ORPHA:1335 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency |
ORPHA:28 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Jaundice, Cleft palate, Splenomegaly, Hepatosplenomegaly, Renal cyst, Renal cortica... |
OMIM:614866 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Urinary incontinence |
ORPHA:512 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S... |
OMIM:612714 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatic failure, Steatorrhea, P... |
ORPHA:470 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Colon cancer |
OMIM:135150 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypospadias, Bifid uvula, Abnormality of ... |
OMIM:222470 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Joubert Syndrome 7 |
|
Episodic tachypnea, Nephronophthisis, Central apnea, Tachypnea, Renal cyst, Neonatal breathing dy... |
OMIM:611560 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Jaundice, Splenomegaly, Respiratory insufficiency, Death in childhood, Death in inf... |
OMIM:607625 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Cholestasis |
ORPHA:232 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Abnormality of the ureter, Abn... |
ORPHA:1834 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Ascites, Hepatomegaly, Renal insufficiency |
ORPHA:2123 |
8P Inverted Duplication/Deletion Syndrome |
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Micropenis, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Hydronephro... |
ORPHA:96092 |
Prune Belly Syndrome |
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Urogenital sinus anomaly, Anal atresia, Intestinal atresia, Intestinal malrotation, Abnormality o... |
ORPHA:2970 |
Genitopalatocardiac Syndrome |
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Hypospadias, Multicystic kidney dysplasia, Abnormality of the gallbladder, Abnormality of mesente... |
ORPHA:2075 |
Harderoporphyria |
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Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Incre... |
OMIM:618892 |
Spherocytosis, Type 5 |
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Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Aicardi-Goutieres Syndrome 4 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Death in childhood, El... |
OMIM:610333 |
Gaucher Disease Type 2 |
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Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Hereditary Elliptocytosis |
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Cholelithiasis, Jaundice, Splenomegaly, Prolonged neonatal jaundice |
ORPHA:288 |
Say Syndrome |
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Proximal renal tubular acidosis, Cystic renal dysplasia, Cleft palate |
OMIM:181180 |
Ppoma |
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Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97278 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Apnea, Intrauterine growth retardation, Hepatomegaly, Jaundice, Aminoaciduria, Hypoplasia of the ... |
OMIM:214110 |
Mitochondrial Pyruvate Carrier Deficiency |
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Organic aciduria, Hepatomegaly |
OMIM:614741 |
Fish-Eye Disease |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Jeune Syndrome |
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Nephronophthisis, Short stature, Respiratory insufficiency, Nephropathy, Renal insufficiency, Abn... |
ORPHA:474 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
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Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Cholelithiasis, Cryptorchidism, Decreased testicular size, Micropenis |
OMIM:300534 |
Hereditary Spherocytosis |
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Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:822 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Right vent... |
OMIM:613404 |
Congenital Disorder Of Glycosylation, Type Ia |
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