congenital bile acid synthesis defect 5

Term ID

DOID:0111066

Synonyms

• CBAS5

Definition

A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. https://www.ncbi.nlm.nih.gov/pubmed/25168382

References

• OMIM:616278

Ontology

Human Disease   ( DOID:0111066 )