Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: ORDO:79303
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by OMIM:235555
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 2
OMIM
ClinVar
CTD
PMID:8707100 PMID:12970144 PMID:15030995 PMID:16199547 PMID:19175828 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 17251
    physical disorder 3093
      congenital bile acid synthesis defect 7
        congenital bile acid synthesis defect 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            lipid metabolism disorder 1001
              steroid inherited metabolic disorder 52
                congenital bile acid synthesis defect 7
                  congenital bile acid synthesis defect 2 1
paths to the root