Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Malabsorpt... |
OMIM:602347 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Nephronophthisis 13 |
|
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... |
OMIM:614377 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... |
OMIM:607361 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Tubulointerstitial fibrosis, Ren... |
OMIM:263200 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro... |
OMIM:602114 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Senior-Loken Syndrome 8 |
|
Nephronophthisis, Hepatic cysts, Pancreatic cysts |
OMIM:616307 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
Meckel Syndrome, Type 6 |
|
Cleft palate, Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease |
OMIM:612284 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Bile duct proliferation, Multiple glomerular cysts, Stage 5 chronic kidney dise... |
OMIM:267010 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor... |
OMIM:604387 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnorma... |
ORPHA:3032 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney ... |
OMIM:618061 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci... |
OMIM:619662 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Hyperbiliverdinemia |
|
Decreased liver function, Green urine, Cholelithiasis, Cholestasis |
OMIM:614156 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Short stature, Membranous nephropathy, Hepatic cysts, Colo... |
OMIM:618999 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Nephronophthisis 16 |
|
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... |
OMIM:615382 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
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 |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts, Decreased glomerular filt... |
ORPHA:730 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Renal cyst, Polycystic liver disease |
OMIM:174050 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kid... |
OMIM:613095 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst, Stillbirth |
OMIM:263630 |
Porphyria Cutanea Tarda, Type I |
|
Porphyrinuria, Hepatic fibrosis |
OMIM:176090 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice |
OMIM:237500 |
Meckel Syndrome, Type 2 |
|
Meningocele, Bile duct proliferation, Cleft palate, Renal cyst |
OMIM:603194 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... |
OMIM:613159 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Hepatic fibrosis, Pancreatic cysts, Respiratory insufficiency, Short stature, B... |
OMIM:208500 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Mirizzi Syndrome |
|
Gallbladder perforation, Cholelithiasis, Pancreatitis, Dark urine, Cholesterol gallstones, Abnorm... |
ORPHA:521219 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... |
ORPHA:400 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile... |
OMIM:618955 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p... |
ORPHA:1318 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
Fibrosclerosis, Multifocal |
|
Abnormality of the liver, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis |
OMIM:228800 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Abnormal localization of kidney |
ORPHA:446 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract obstruction, ... |
ORPHA:69663 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Abnormal intestine morphology, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Fadd-Related Immunodeficiency |
|
Decreased liver function, Hepatic fibrosis |
ORPHA:306550 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
Meckel Syndrome, Type 5 |
|
Abnormality of the urinary system, Bile duct proliferation, Cleft palate |
OMIM:611561 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Howell-Jo... |
OMIM:613759 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li... |
ORPHA:53035 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Hepatic cysts, Stage 5 chronic kidney disease |
OMIM:613819 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Stillbirth, Cholestasis, Enlarg... |
OMIM:615415 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... |
OMIM:616629 |
Meckel Syndrome, Type 4 |
|
Meningocele, Bile duct proliferation, Cleft palate, Renal cyst |
OMIM:611134 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Ascites, Enlarged kidn... |
OMIM:200995 |
Alveolar Echinococcosis |
|
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Renal cyst, Co... |
ORPHA:284 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly, Renal cyst |
OMIM:614870 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... |
ORPHA:65682 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... |
OMIM:231100 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Coach Syndrome 2 |
|
Portal fibrosis, Hepatic fibrosis, Elevated hepatic transaminase, Congenital hepatic fibrosis, Hy... |
OMIM:619111 |
Immunodeficiency 56 |
|
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Recurrent pneumonia, Hepatic fail... |
OMIM:615207 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Butyrylcholinesterase Deficiency |
|
Abnormality of the liver, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian ... |
ORPHA:3156 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, High palate, Hepatic fibrosis, Macroglossia, Nephronophthisis, Renal dysplasia, Ren... |
OMIM:266920 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal renal inst... |
ORPHA:84081 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hypertension |
OMIM:232500 |
Axial Osteomalacia |
|
Renal cyst, Polycystic liver disease |
OMIM:109130 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Abnormality of the liver, Multi... |
OMIM:193300 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Aminoacidu... |
OMIM:210550 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, M... |
OMIM:203700 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... |
OMIM:603471 |
Pearson Marrow-Pancreas Syndrome |
|
Pancreatic fibrosis, Refractory sideroblastic anemia, Malabsorption |
OMIM:557000 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter, Renal cyst |
OMIM:138790 |
Hemochromatosis Type 4 |
|
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis |
ORPHA:139491 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Giant cell hepatitis, Cholelithiasis, Jaundice |
OMIM:214980 |
Immune Deficiency Disease |
|
Cholangitis, Fulminant hepatitis |
OMIM:242850 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Respiratory failure, Elevated hepatic transaminase, Renal insufficiency, Jaundice |
ORPHA:890 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Cryptorchidism, Renal insufficiency |
OMIM:613861 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... |
ORPHA:562639 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice |
OMIM:605479 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Decreased liver function, Cholelithiasis |
ORPHA:79278 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa... |
ORPHA:2137 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria, Abnormal biliary tract morphology |
ORPHA:293807 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Abnormality of the kidney |
OMIM:613730 |
Caroli Disease, Isolated |
|
Hepatomegaly, Cholangitis, Portal hypertension, Liver abscess |
OMIM:600643 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... |
OMIM:613550 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome |
OMIM:614196 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis |
ORPHA:466794 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Igg4-Related Thyroid Disease |
|
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... |
ORPHA:64744 |
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex |
|
Keratoconjunctivitis sicca, Hepatomegaly, Pancreatitis, Angular cheilitis, Sclerosing cholangitis... |
OMIM:260480 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Respiratory insufficiency, Neonatal death, Renal cyst, Respiratory failure |
OMIM:228940 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Respiratory distress, Renal ... |
OMIM:615993 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:256100 |
Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... |
ORPHA:85445 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Infectious encephalitis, Colitis, Chronic mucocutaneous candidiasis, Recurrent urina... |
OMIM:209920 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Ascites, Biliary tract obstruction, Hepatic cysts, Neoplasm of the liver, Intrahepa... |
ORPHA:100085 |
Rhyns Syndrome |
|
Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis, Hypopituitarism |
ORPHA:140976 |
Coach Syndrome 1 |
|
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Nephronophthisis, Multiple small medullary rena... |
OMIM:216360 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Immunodeficiency 92 |
|
Cholangitis, Hepatomegaly, Pneumonia, Esophagitis, Osteomyelitis, Sclerosing cholangitis |
OMIM:619652 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis |
ORPHA:280356 |
Alpha-Thalassemia |
|
Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly |
ORPHA:846 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... |
OMIM:278000 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Steatorrhea, Pancreatic fibrosis |
OMIM:616263 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Pr... |
OMIM:602579 |
Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:301068 |
Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria, Cholelithiasis, Jaundice |
OMIM:232800 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... |
ORPHA:79301 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Lacticaciduria, Pancreatitis, Hepatic steatosis, Elevated circulating alanine a... |
OMIM:619386 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:232400 |
Martinez-Frias Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct atresia, Hypoplas... |
OMIM:601346 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Hepatocellular Carcinoma |
|
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma |
OMIM:114550 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... |
ORPHA:464329 |
Orofaciodigital Syndrome I |
|
Cleft palate, High palate, Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Tongue nodules, ... |
OMIM:311200 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Hydronephrosis, Eczema, Pancreatic hypoplasia, Superficial dermal perivascular infl... |
ORPHA:83617 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Respiratory insufficiency, Nephronophthisis, Stage 5 chroni... |
OMIM:602088 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension |
OMIM:617068 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Portal hypertension, Hepatic fibrosis, Esophageal varix |
OMIM:616589 |
Arima Syndrome |
|
Renal tubular atrophy, Occipital meningocele, Hepatomegaly, Hepatic fibrosis, Nephronophthisis, T... |
OMIM:243910 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Meckel Syndrome |
|
Cleft palate, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Aplasia/Hypoplasia of the ... |
ORPHA:564 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver |
ORPHA:79168 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Hepatomegaly, Death in infancy, Renal cyst |
OMIM:614862 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Hepatomegaly, Ethylmalonic aciduria, Generalized aminoaciduria, Proximal tu... |
OMIM:231680 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... |
OMIM:615630 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... |
OMIM:615862 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... |
OMIM:237800 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease, Apnea, Hepatic fibrosis, Episodic tachypnea |
OMIM:612285 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... |
OMIM:618329 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, High palate |
OMIM:614882 |
Lambert Syndrome |
|
Jaundice, Hypospadias, Intrahepatic biliary atresia |
OMIM:245550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... |
OMIM:618495 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Hepatomegaly, High palate, Bile duct proliferation, Renal cyst, Splenomegaly, Hepa... |
OMIM:261515 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Erythrocytosis, Familial, 8 |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:222800 |
Rft1-Cdg |
|
Hepatomegaly |
ORPHA:244310 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Hemochromatosis Type 2 |
|
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Elevated hepatic trans... |
ORPHA:79230 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyp... |
ORPHA:64743 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Displacement of the urethral meatus, Cryptorchidism, Hypoplasia of p... |
ORPHA:2377 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Acholic stools, Jaundice |
ORPHA:70567 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hemoglobinuria, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice |
OMIM:194380 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:85450 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Intrauterine growth retardation |
OMIM:301021 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Cholangitis, Jaundice |
OMIM:607626 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Hepatitis, Cirrhosis, Hepatosplenomegaly, Hypersplenism, Acute hepatic failure, Thyr... |
ORPHA:228426 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect... |
ORPHA:183675 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Death in infancy, Respiratory insufficiency, Splenomegaly |
ORPHA:139406 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Depletion of mitochondrial DNA ... |
OMIM:251880 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis,... |
OMIM:618641 |
Psoriasis 14, Pustular |
|
Cholangitis, Pustule, Psoriasiform dermatitis, Oligoarthritis |
OMIM:614204 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:266200 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis |
OMIM:231530 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:235700 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Intrauterine growth retardation, Hepatic fibrosis, Nephronophthisis, Hepatic cysts, ... |
ORPHA:1505 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis |
OMIM:601539 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Decreased liver func... |
OMIM:124000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:615158 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly |
OMIM:607906 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Intrauterine growth retardation, Duplicated collecting system, Decreased liver fu... |
OMIM:617093 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephrolithiasis, Renal ... |
OMIM:145001 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Methylmalonic aciduri... |
OMIM:245400 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... |
OMIM:214900 |
Pearson Syndrome |
|
Neutropenia, Splenomegaly, Steatorrhea, Pancytopenia, Renal cyst, Bone marrow hypocellularity, He... |
ORPHA:699 |
Immunodeficiency 54 |
|
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Short stature, Splenome... |
OMIM:609981 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... |
ORPHA:449395 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Hepatomegaly, Hypoxemia, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ... |
ORPHA:79128 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Cholestatic liver disease, Chole... |
OMIM:610205 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Respiratory insufficie... |
OMIM:608836 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Abnormal urinary colo... |
ORPHA:234 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Glossoptosis, Jaundice |
OMIM:614876 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Microglossia, Intestinal malrotation, Polycy... |
OMIM:263520 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Hepatomegaly, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic ste... |
OMIM:301045 |
Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Intrauterine growth retardation, Respiratory insufficiency, Nephrogenic r... |
OMIM:608022 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension, Protein-losing ent... |
ORPHA:79319 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:306000 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Sickle Cell Anemia |
|
Hepatomegaly, Hematuria, Cholelithiasis, Splenomegaly, Renal insufficiency, Jaundice |
OMIM:603903 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Hepatomegaly, Death in infancy, Infectious encephalitis, Intrauterine growth retarda... |
ORPHA:1194 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Tachypnea, Cardiomeg... |
OMIM:201475 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Nephrotic syndrome, Hypoplasia of the ovary, Multicystic kidney dysplasia, Cryp... |
ORPHA:110 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly |
ORPHA:848 |
Microsporidiosis |
|
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abnormality of the urinary system physiology, Inf... |
ORPHA:2552 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Stomatitis, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing chola... |
OMIM:308230 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Hepatomegaly, Cleft palate, High palate, Portal fibrosis, Bile duct proliferation, R... |
OMIM:613610 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts, Eosinophilia, Lymphopenia, Anal atresia |
OMIM:617425 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Glycogen Storage Disease Xii |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:611881 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Esophag... |
ORPHA:370 |
North American Indian Childhood Cirrhosis |
|
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension |
OMIM:604901 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... |
OMIM:615710 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Respiratory insufficiency, Short stature, Congenital hepatic fibrosis, Renal cyst, M... |
ORPHA:2031 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Hepatomegaly |
ORPHA:2432 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hydronephrosis, Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Esophagitis, Dup... |
ORPHA:541423 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... |
OMIM:606003 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hypoxemia, Hepatic fibrosis, Respiratory insufficiency, Cough, Cirrhosis, Hepatic s... |
OMIM:615486 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, 3-Methylglutaconic aciduria |
ORPHA:67046 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hypoparathyroidism, Elevated hepatic iron concentration, Hepatocellular carcinoma, ... |
ORPHA:231222 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:618913 |
Meckel Syndrome, Type 1 |
|
Cleft palate, Malformation of the hepatic ductal plate, Abnormality of the ureter, Asplenia, Rena... |
OMIM:249000 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Rhinitis, Chronic mucocutaneous candidiasis, Skin rash, Chronic hepatitis due to crypt... |
ORPHA:572 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hydronephrosis, Death in infancy, Hydroureter |
OMIM:618240 |
Cirrhosis, Familial |
|
Cirrhosis, Chronic active hepatitis, Hepatitis |
OMIM:118900 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the urinary system, Cough, Respiratory failure, Dyspnea, Respiratory failure requi... |
ORPHA:90117 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Short stature, Decrea... |
OMIM:232200 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... |
ORPHA:90003 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Tuberous Sclerosis Complex |
|
Pheochromocytoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease... |
ORPHA:805 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Donohue Syndrome |
|
Intrauterine growth retardation, Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia,... |
OMIM:246200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... |
OMIM:613812 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Abnormal pancreas morphology, Retro... |
ORPHA:449432 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, High, narrow palate, High palate, Malformation of the hepatic ductal plate, Hepatic... |
OMIM:218330 |
Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Pancreatic cysts, Renal cell carcinoma, ... |
ORPHA:892 |
Indomethacin Embryofetopathy |
|
Respiratory insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephro... |
ORPHA:1909 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase... |
OMIM:619525 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Cleft palate, High palate, Hepatic fibrosis, Ascites, Renal cyst, ... |
OMIM:614091 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... |
ORPHA:209902 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cholestasis |
ORPHA:570422 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hepatic fibrosis, Ascites, Glomerular sclerosis, Stage 5 chronic kidney disease, Le... |
OMIM:619487 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Short stature, Decrea... |
OMIM:232220 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Intestinal malrotation, Abnormality of t... |
ORPHA:436252 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis |
OMIM:613390 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Renal tubular a... |
ORPHA:264580 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Hepatomegaly, Death in infancy, Intrauterine growth retardation |
OMIM:610678 |
Orofaciodigital Syndrome Type 1 |
|
Hydronephrosis, Cleft palate, High palate, Pancreatic cysts, Hamartoma of tongue, Tongue nodules,... |
ORPHA:2750 |
Alg9-Cdg |
|
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Villous atrophy, Abnormal renal artery morphol... |
ORPHA:79328 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Glutaric aciduria, Decreased liver function,... |
ORPHA:26791 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... |
OMIM:616828 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Ade... |
ORPHA:171 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the spleen, Abnormality of the ureter, Respiratory insufficiency |
ORPHA:2487 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Decreased liver function, Renal cyst, Multiple renal cysts, Elevated hepatic transaminase |
OMIM:614883 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis |
OMIM:160900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Death in infancy, Pancreatic cysts, Short stature, Seborrheic dermatitis, Axial... |
OMIM:274000 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease |
ORPHA:79095 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal ... |
OMIM:614922 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... |
ORPHA:90301 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Cholestasis, Hepatic failure, Abnormal mitochondrial morphology, Elevated hepatic t... |
OMIM:618528 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... |
OMIM:617303 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Bifid uvula |
OMIM:619480 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Cryptorchidism, Respiratory insufficiency due to muscle weakness, Neonatal d... |
OMIM:611890 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr... |
OMIM:300972 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Growth delay, Apnea, Respiratory failure, 3-Methylglutaconic aciduria |
OMIM:617248 |
Microgastria-Limb Reduction Defects Association |
|
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Pelvic kidney, Splenogonadal fusion, Absent g... |
OMIM:156810 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Portal fibrosis, Pancrea... |
ORPHA:3260 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Severe short statur... |
OMIM:619057 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Nephrocalcinosis, Cholelithiasis, Prematu... |
OMIM:240300 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly |
OMIM:300884 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency |
ORPHA:586 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Pancreatic hypoplasia, Multiple glomerular cysts, Renal cyst, Neph... |
OMIM:137920 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Hydronephrosis, Hypoplastic nipples, Short stature, Renal dysplas... |
ORPHA:480880 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Esophageal varix, Ascites, Bile duct proliferation, Intestinal malrotation, Cirrhosi... |
OMIM:613658 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Glomerular scle... |
OMIM:276700 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, S... |
ORPHA:1454 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... |
OMIM:619463 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Primary Biliary Cholangitis |
|
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, C... |
ORPHA:186 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Gout, Renal c... |
OMIM:617056 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... |
OMIM:613070 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Renal tubular acidosis, ... |
ORPHA:79240 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Growth delay, Short stature, Stillbirth, Splenomegaly, Absence of renal corticomedu... |
OMIM:259720 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis |
ORPHA:3166 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Restrictive ventilatory defect, Crackles, Cardiomegaly, Cough, Hepatosplenomegaly, ... |
ORPHA:99931 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Hepatic ste... |
OMIM:212065 |
Lambert Syndrome |
|
Jaundice, Hypospadias, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:618224 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis |
OMIM:243300 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Neoplasm of the rectum, Esophage... |
ORPHA:2869 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Porphyria Cutanea Tarda |
|
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... |
ORPHA:101330 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Ureteral agenesis |
OMIM:236500 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Sp... |
ORPHA:231226 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in infancy, Neonatal death, Death in childhood, Respiratory failure |
OMIM:619334 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Enuresis, Pancreatitis, Hepatic steatos... |
ORPHA:247585 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea, Intrauterine growth retardation |
ORPHA:1832 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice |
OMIM:618549 |
Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Cholestasis, Jaundice |
OMIM:614887 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cleft palate, Renal cyst |
OMIM:231060 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Short stature, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicou... |
ORPHA:1166 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Esophageal varix, Splenomegaly, Anterior pituitary hypoplasia, Medullary nephrocalcinosis, Prolon... |
OMIM:619534 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... |
OMIM:607765 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Acute hepatic failure,... |
ORPHA:71212 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension |
OMIM:615878 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Short stature, Increased hepatic glycogen content, Tubuloint... |
ORPHA:79259 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:615895 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Gapo Syndrome |
|
Tubulointerstitial fibrosis, Hepatomegaly, Breast hypoplasia, Hypoplastic nipples |
OMIM:230740 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Nephrocalcinosis, Pneumothorax, Renal cyst, Hepatic steatosis, Respiratory failure,... |
ORPHA:445038 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma... |
ORPHA:231214 |
Avian Influenza |
|
Productive cough, Hypoxemia, Infectious encephalitis, Pneumonia, Tachypnea, Pneumothorax, Hepatit... |
ORPHA:454836 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Short stature |
OMIM:600561 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Periportal fibrosis |
OMIM:263210 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Esophageal varix, Ascites, Peritonitis, Malabsorption, Splenomegaly, Cirrhosis, Int... |
ORPHA:131 |
Distal Trisomy 5Q |
|
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96097 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria |
ORPHA:35 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly |
ORPHA:42642 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Cleft palate, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegaly, Hepatosple... |
OMIM:614866 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency |
OMIM:610127 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Retroperitoneal fibro... |
ORPHA:449563 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Cryptorchidism, Micropenis, Respiratory insufficiency |
ORPHA:370968 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Obstructive sleep apnea, Central sleep apnea, Decreased liver function, Hepatic steatosis, Respir... |
ORPHA:70472 |
Joubert Syndrome 20 |
|
Renal cyst, Respiratory insufficiency |
OMIM:614970 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Hydronephrosis, Asplenia, Annular pancreas |
ORPHA:210122 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine amino... |
OMIM:619048 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:615512 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder, Myelitis, Optic neuritis |
ORPHA:71211 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Renal hypoplasia, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... |
OMIM:602522 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Abnormal large intestine morphology, Ascites |
ORPHA:2198 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Cholelithiasis, Nephrolithiasis, Cirrhosis, Hepatic failure, Cholecystitis, Portal hyp... |
ORPHA:774 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Hypospadias, Horseshoe kidney, Re... |
ORPHA:93111 |
Dpm1-Cdg |
|
Hepatomegaly, High, narrow palate, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Eleva... |
ORPHA:79322 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Steatorrhea, Hepatic failure, Intrahep... |
OMIM:235555 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Hepatomegaly, Villous atrophy, Hepatic fibrosis, Bifid uvula, Abnormality of the pan... |
OMIM:222470 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency |
ORPHA:28 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hepatic steatosis, Respiratory failure, Hepatomegaly |
ORPHA:363400 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, High, narrow palate |
ORPHA:2849 |
Alg1-Cdg |
|
Nephrotic syndrome, Decreased liver function, Respiratory failure, Renal insufficiency, Abnormali... |
ORPHA:79327 |
Pentalogy Of Cantrell |
|
Hypospadias, Renal agenesis, Renal dysplasia, Absent gallbladder, Polysplenia |
ORPHA:1335 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Urinary incontinence, Neoplasm of the gallbladder, Hemobilia |
ORPHA:512 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Renal neoplasm, Colon cancer |
OMIM:135150 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Micropenis, Cleft palate, Renal cyst |
OMIM:614175 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Anemia of inadequate production, Exocrine pancre... |
OMIM:612714 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Intrauterine growth retardation, Aminoaciduria, Hypoplasia of the thymus, Apnea, In... |
OMIM:214110 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... |
ORPHA:470 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Abnormality of the gallbladder, Abnormality of mesentery morphology, Multicystic kid... |
ORPHA:2075 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Nephronophthisis, Renal cyst, Episodic tachypnea, Neonatal breathing dy... |
OMIM:611560 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal hypoplasia/aplasia, Renal insufficiency, Ascites |
ORPHA:2123 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Prolonged neonatal jaundice, Incre... |
OMIM:618892 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Hepatospl... |
OMIM:610333 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Hyperthreoninuria |
OMIM:204000 |
Hereditary Elliptocytosis |
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Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:288 |
Sickle Cell Anemia |
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Abnormality of the spleen, Pigment gallstones, Cholestasis |
ORPHA:232 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, High, narrow palate, High palate, Aganglionic megacolon, Hepatic fibros... |
OMIM:209900 |
Axial Mesodermal Dysplasia Spectrum |
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Abnormality of the spleen, Abnormal intestine morphology, Abnormality of the ureter, Hydronephros... |
ORPHA:1834 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
8P Inverted Duplication/Deletion Syndrome |
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Hydronephrosis, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope... |
ORPHA:96092 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis |
OMIM:619273 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Say Syndrome |
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Cystic renal dysplasia, Cleft palate, Proximal renal tubular acidosis |
OMIM:181180 |
Jeune Syndrome |
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Respiratory insufficiency, Short stature, Nephronophthisis, Abnormality of the liver, Nephropathy... |
ORPHA:474 |
Mitochondrial Pyruvate Carrier Deficiency |
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Hepatomegaly, Organic aciduria |
OMIM:614741 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Cryptorchidism, Micropenis, Decreased testicular size, Cholelithiasis |
OMIM:300534 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
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Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Ppoma |
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Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotropin level,... |
ORPHA:97278 |
Hereditary Spherocytosis |
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Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly |
ORPHA:822 |
Dehydrated Hereditary Stomatocytosis 2 |
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