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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 2
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Accession:DOID:0111069 term browser browse the term
Definition:A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. (DO)
Synonyms:exact_synonym: CBAS2;   cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency;   congenital bile acid synthesis defect type 2 (CBAS2)
 primary_id: MESH:C535443
 alt_id: OMIM:235555
 xref: GARD:10045;   ORDO:79303


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congenital bile acid synthesis defect 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2		 OMIM
CTD
ClinVar		 PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:18243262 More... NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital bile acid synthesis defect 7
        congenital bile acid synthesis defect 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            lipid metabolism disorder 1735
              steroid inherited metabolic disorder 58
                congenital bile acid synthesis defect 7
                  congenital bile acid synthesis defect 2 1
paths to the root