Rare Disease Library

Fulminant viral hepatitis

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

GBE deficiency, childhood combined hepatic and myopathic form · GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease type IV, non progressive hepatic form · Glycogenosis type IV, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

GBE deficiency, progressive hepatic form · GSD due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to hepatic glycogen synthase deficiency

GSD due to hepatic glycogen synthase deficiency · GSD type 0a

Growth delay-intellectual disability-hepatopathy syndrome

Growth retardation-mild developmental delay-chronic hepatitis syndrome

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Dykes-Marks-Harper syndrome

Idiopathic peliosis hepatis

Idiopathic peliosis hepatitis

Intrahepatic cholestasis of pregnancy

Gravidic intrahepatic cholestasis · Pregnancy-related cholestasis

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

mtDNA depletion syndrome, hepatocerebrorenal form

Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

MYO5B-related progressive familial intrahepatic cholestasis

MYO5B deficiency

Navajo neurohepatopathy

Navajo neuropathy

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

Neonatal intrahepatic cholestasis due to citrin deficiency

NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency

OBSOLETE: Chronic hepatic porphyria

OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis

OBSOLETE: Cholestatic hepatic amyloidosis

OBSOLETE: HIV-related hepatocellular carcinoma

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

PBC/PSC and AIH overlap syndrome · Overlap syndromes of autoimmune liver diseases

Primary hepatic neuroendocrine carcinoma

Primary intrahepatic lithiasis

Primary hepatolithiasis · PIHL

Progressive familial intrahepatic cholestasis

PFIC

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

Progressive familial intrahepatic cholestasis type 3

PFIC3

Progressive familial intrahepatic cholestasis type 4

TJP2 deficit · PFIC4

Progressive familial intrahepatic cholestasis type 5

NR1H4 deficiency · PFIC5

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Rare genetic hepatic disease

Rare hepatic and biliary tract tumor

Rare hepatic disease

Rare malignant epithelial tumor of liver and intrahepatic biliary tract

Rare malignant epithelial tumor of liver and IBT

Rare tumor of gallbladder and extrahepatic biliary tract

Rare tumor of gallbladder and EBT

Rare tumor of liver and intrahepatic biliary tract

Rare tumor of liver and IBT

Recurrent hepatitis C virus induced liver disease in liver transplant recipients

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

Retinohepatoendocrinologic syndrome

Seronegative autoimmune hepatitis

Seronegative AIH · Autoantibody-negative autoimmune hepatitis

Spontaneous heparin-induced thrombocytopenia

Spontaneous HIT

Squamous cell carcinoma of gallbladder and extrahepatic biliary tract

Squamous cell carcinoma of gallblader and EBT

Squamous cell carcinoma of liver and intrahepatic biliary tract

Squamous cell carcinoma of liver and IBT