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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 4
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Accession:DOID:0111068 term browser browse the term
Definition:A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. (DO)
Synonyms:exact_synonym: Cbas4;   Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid;   Trihydroxycoprostanic acid in bile
 primary_id: MESH:C535444;   RDO:0000561
 alt_id: OMIM:214950
 xref: ORDO:79095
For additional species annotation, visit the Alliance of Genome Resources.


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congenital bile acid synthesis defect 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4 OMIM
ClinVar
PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:25741868 PMID:28492532 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital bile acid synthesis defect 6
        congenital bile acid synthesis defect 4 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      gastrointestinal system disease 4655
        hepatobiliary disease 2510
          biliary tract disease 439
            bile duct disease 409
              cholestasis 314
                intrahepatic cholestasis 123
                  congenital bile acid synthesis defect 4 1
paths to the root