polycystic liver disease 2

Term ID

DOID:0060975

Synonyms

• POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS

Definition

A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/24886261/

References

• MIM:617004

Ontology

Human Disease   ( DOID:0060975 )