OBO ID: DOID:0111066
Term Name: congenital bile acid synthesis defect 5 Search Ontology:
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 congenital bile acid synthesis defect 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCD3 ?Bile acid synthesis defect, congenital, 5 616278
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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