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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;   Trihydroxycoprostanic acid in bile;   intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
 primary_id: MESH:C535444
 alt_id: OMIM:214950
 xref: GARD:10046;   ORDO:79095

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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: Congenital bile acid synthesis defect 4 OMIM
ClinVar		 PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chrNW_004955426:19,570,179...19,580,920
Ensembl chrNW_004955426:19,570,070...19,580,818 		JBrowse link
G Slc45a2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955426:19,498,942...19,530,628
Ensembl chrNW_004955426:19,498,942...19,530,628 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      congenital bile acid synthesis defect 7
        congenital bile acid synthesis defect 4 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      gastrointestinal system disease 5961
        hepatobiliary disease 2621
          biliary tract disease 469
            bile duct disease 429
              cholestasis 298
                congenital bile acid synthesis defect 7
                  congenital bile acid synthesis defect 4 2
paths to the root