Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111066 )
Relationships
is a type of
disjoint_from
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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