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Metadata
ID DOID:0111066
Name congenital bile acid synthesis defect 5
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
Xrefs

OMIM:616278

Synonyms

CBAS5 [EXACT]

Parent Relationships

is_a genetic disease

is_a congenital bile acid synthesis defect

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