Rare diseases that primarily involve the hepatic & liver system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 131 conditions · last built 2026-08-30.
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A13
- Acute Fatty Liver Of Pregnancy
- Acute Infantile Liver Failure Due To Synthesis Defect Of MtDNA-Encoded Proteins
- Acute Liver Failure
- Adams-Oliver Syndrome 1
- Adams-Oliver Syndrome 2
- Adams-Oliver Syndrome 3
- Adams-Oliver Syndrome 4
- Adams-Oliver Syndrome 5
- Adams-Oliver Syndrome 6
- Adenocarcinoma Of Gallbladder And Extrahepatic Biliary Tract
- Adult Hepatocellular Carcinoma
- Aflatoxin-Related Hepatocellular Carcinoma
- Autosomal Dominant Polycystic Liver Disease
B1
C11
- Calcifying Nested Epithelial Stromal Tumor Of The Liver
- Carcinoma In Situ Of Extrahepatic Bile Duct
- Carcinoma Of Gallbladder And Extrahepatic Biliary Tract
- Carcinoma Of Liver And Intrahepatic Biliary Tract
- Carnitine Palmitoyl Transferase 1A Deficiency
- Carnitine Palmitoyl Transferase II Deficiency, Severe Infantile Form
- Cirrhosis, Familial
- Cirrhosis, Familial, With Antigenemia
- Combined Hepatocellular Carcinoma And Cholangiocarcinoma
- Congenital Anomaly Of Hepatic Vein
- Congenital Hepatic Fibrosis
E13
- Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma
- Extrahepatic Bile Duct Adenocarcinoma
- Extrahepatic Bile Duct Adenosquamous Carcinoma
- Extrahepatic Bile Duct Carcinoma
- Extrahepatic Bile Duct Clear Cell Adenocarcinoma
- Extrahepatic Bile Duct Leiomyosarcoma
- Extrahepatic Bile Duct Mucinous Adenocarcinoma
- Extrahepatic Bile Duct Mucoepidermoid Carcinoma
- Extrahepatic Bile Duct Rhabdomyosarcoma
- Extrahepatic Bile Duct Sarcoma
- Extrahepatic Bile Duct Signet Ring Cell Carcinoma
- Extrahepatic Bile Duct Small Cell Adenocarcinoma
- Extrahepatic Bile Duct Squamous Cell Carcinoma
F2
G7
- Glycogen Storage Disease 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 Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
- Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
- Glycogen Storage Disease, Type VI
- Glycogen Storage Disorder Due To Hepatic Glycogen Synthase Deficiency
- Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy
H14
- HELLP Syndrome
- Hepatic Adenomas, Familial
- Hepatic Angiomyolipoma
- Hepatic Coma
- Hepatic Methionine Adenosyltransferase Deficiency
- Hepatic Tuberculosis
- Hepatic Veno-Occlusive Disease
- Hepatoblastoma
- Hepatocellular Adenoma
- Hepatocellular Carcinoma
- Hepatocellular Clear Cell Carcinoma
- Hereditary North American Indian Childhood Cirrhosis
- Hyperbiliverdinemia
- Hyperlipidemia Due To Hepatic Triglyceride Lipase Deficiency
I11
- Idiopathic Copper-Associated Cirrhosis
- Incomplete Septal Cirrhosis
- Infantile Liver Failure
- Infantile Liver Failure Syndrome 1
- Infantile Liver Failure Syndrome 2
- Infantile Liver Failure Syndrome 3
- Inflammatory Pseudotumor Of The Liver
- Intrahepatic Bile Duct Adenosquamous Carcinoma
- Intrahepatic Bile Duct Cancer
- Intrahepatic Cholangiocarcinoma
- Intrahepatic Portal Vein Sclerosis
L16
- Liver Adenomatosis
- Liver Adenosquamous Carcinoma
- Liver Angiosarcoma
- Liver Cancer
- Liver Carcinoma In Situ
- Liver Cavernous Hemangioma
- Liver Extraskeletal Osteosarcoma
- Liver Fibrosarcoma
- Liver Inflammatory Myofibroblastic Tumor
- Liver Leiomyosarcoma
- Liver Mesenchymal Hamartoma
- Liver Neuroendocrine Carcinoma
- Liver Rhabdomyosarcoma
- Liver Sarcoma
- Liver Solitary Fibrous Tumor
- Lymphoplasmacytic Inflammatory Pseudotumor Of The Liver
M7
N1
O2
P11
- Papillary Extrahepatic Bile Duct Adenocarcinoma
- Pediatric Hepatocellular Carcinoma
- Perihilar Intrahepatic Cholangiocarcinoma
- Polycystic Liver Disease 1
- Polycystic Liver Disease 2
- Polycystic Liver Disease 3 With Or Without Kidney Cysts
- Polycystic Liver Disease 4 With Or Without Kidney Cysts
- Primary Biliary Cholangitis
- Primary Intrahepatic Lithiasis
- Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome
- Progressive Sclerosing Poliodystrophy
R4
S9
- Sarcomatous Intrahepatic Cholangiocarcinoma
- Sclerosing Hepatic Carcinoma
- SEC61B-Related Polycystic Liver Disease
- Signet Ring Cell Intrahepatic Cholangiocarcinoma
- Solitary Necrotic Nodule Of The Liver
- Squamous Cell Carcinoma Of Gallbladder And Extrahepatic Biliary Tract
- Squamous Cell Carcinoma Of Liver And Intrahepatic Biliary Tract
- Stage I Childhood Hepatocellular Carcinoma AJCC v6 And v7
- Stage II Childhood Hepatocellular Carcinoma AJCC v6 And v7