Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

100 matching diseasesClear search ×

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

Hepatic cutaneous porphyria

ORPHA:659698

Hepatic cystic hamartoma

Biliary hamartoma · MHL

ORPHA:386

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

ORPHA:2031

Hepatic porphyria

ORPHA:659694

Hepatic veno-occlusive disease

Sinusoidal obstruction syndrome

ORPHA:890

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

ORPHA:79124

Hepatitis B reinfection following liver transplantation

ORPHA:90073

Hepatitis delta

HDV · Hepatitis D virus

ORPHA:402823

Hepatoblastoma

ORPHA:449

Hepatocellular adenoma

ORPHA:54272

Hepatocellular carcinoma

HCC · Hepatocellular carcinoma

ORPHA:88673

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to COXPD1

ORPHA:137681

Hepatoerythropoietic porphyria

HEP

ORPHA:95159

Hepatoportal sclerosis

Obliterative portal venopathy

ORPHA:64743

Hepatosplenic T-cell lymphoma

ORPHA:86882

Adult hepatocellular carcinoma

Adult HCC · HCC

ORPHA:210159

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

ORPHA:156

Classic heparin-induced thrombocytopenia

Classic heparin-associated thrombocytopenia · Classic HAT

ORPHA:3325

Combined hepatocellular carcinoma and cholangiocarcinoma

cHCC-CC · Combined HCC-CC

ORPHA:529852

Fibrolamellar hepatocellular carcinoma

FHCC · Fibrolamellar hepatocarcinoma

ORPHA:401920

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

ORPHA:364

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

ORPHA:369

Liver adenomatosis

Hepatic adenomatosis

ORPHA:566841

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402

Progeroid features-hepatocellular carcinoma predisposition syndrome

HCC · Hepatocellular carcinoma

ORPHA:435953

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

ORPHA:79269

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

ORPHA:79271

Solitary necrotic nodule of the liver

Hepatic solitary necrotic nodule

ORPHA:100035

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

ORPHA:882

Wilson disease

Hepatolenticular degeneration

ORPHA:905

Acute hepatic porphyria

ORPHA:95157

Adenocarcinoma of the gallbladder and extrahepatic biliary tract

Adenocarcinoma of the gallbladder and EBT

ORPHA:424991

Adenocarcinoma of the liver and intrahepatic biliary tract

Adenocarcinoma of the liver and IBT

ORPHA:424943

Autoimmune heparin-induced thrombocytopenia

Autoimmune HIT · aHIT

ORPHA:698945

Autoimmune hepatitis

AIH

ORPHA:2137

Autoimmune hepatitis type 1

AIH type 1

ORPHA:563576

Autoimmune hepatitis type 2

AIH type 2

ORPHA:563581

Benign recurrent intrahepatic cholestasis

BRIC · Summerskill-Walshe-Tygstrup syndrome

ORPHA:65682

Benign recurrent intrahepatic cholestasis type 1

BRIC type 1 · BRIC1

ORPHA:99960

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

ORPHA:99961

Carcinoma of gallbladder and extrahepatic biliary tract

Carcinoma of gallbladder and EBT

ORPHA:56044

Carcinoma of liver and intrahepatic biliary tract

Carcinoma of liver and IBT

ORPHA:424936

Congenital anomaly of hepatic vein

ORPHA:95507

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

ORPHA:521432

Congenital disorder of glycosylation with hepatic involvement

CDG with hepatic involvement

ORPHA:371157

Congenital enterocyte heparan sulfate deficiency

ORPHA:103910

Familial intrahepatic cholestasis

ORPHA:284385