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Ontology Browser

Term:
congenital bile acid synthesis defect 5 (DOID:0111066)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
congenital bile acid synthesis defect 1  
congenital bile acid synthesis defect 2  
congenital bile acid synthesis defect 3  
congenital bile acid synthesis defect 4  
congenital bile acid synthesis defect 5  
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. (DO)
congenital bile acid synthesis defect 6  

Synonyms
Exact Synonyms: CBAS5
Primary IDs: OMIM:616278
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/25168382 "DO" "DO"

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