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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 3
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Accession:DOID:0111070 term browser browse the term
Definition:A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: CBAS3;   Congenital Bile Acid Synthesis Defect Type 3 (CBAS3);   oxysterol 7-alpha-hydroxylase deficiency
 primary_id: MESH:C566340
 alt_id: OMIM:613812
 xref: ORDO:79302


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congenital bile acid synthesis defect 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 3 OMIM
ClinVar		 PMID:1943942 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 More... NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    physical disorder 4823
      congenital bile acid synthesis defect 7
        congenital bile acid synthesis defect 3 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          inherited metabolic disorder 5435
            lipid metabolism disorder 1545
              steroid inherited metabolic disorder 55
                congenital bile acid synthesis defect 7
                  congenital bile acid synthesis defect 3 1
paths to the root