Mondo Description Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.

Uniprot Description A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

Disease Ontology Description A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.