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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital bile acid synthesis defect 5
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Accession:DOID:0111066 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CBAS5
 primary_id: OMIM:616278
For additional species annotation, visit the Alliance of Genome Resources.



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congenital bile acid synthesis defect 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 ClinVar
OMIM
PMID:25168382 PMID:25741868 NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    physical disorder 3094
      congenital bile acid synthesis defect 7
        congenital bile acid synthesis defect 5 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          inherited metabolic disorder 2636
            lipid metabolism disorder 1004
              steroid inherited metabolic disorder 52
                congenital bile acid synthesis defect 7
                  congenital bile acid synthesis defect 5 1
paths to the root