|OBO ID: DOID:0111066|
|Term Name:||congenital bile acid synthesis defect 5||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0111066)|
OTHER congenital bile acid synthesis defect 5 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.