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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
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Accession:DOID:0050674 term browser browse the term
Definition:A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)
Synonyms:exact_synonym: CBA;   cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
 xref: ICD10CM:K76.8;   OMIM:PS607765
For additional species annotation, visit the Alliance of Genome Resources.


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congenital bile acid synthesis defect 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 term: Congenital Bile Acid Synthesis Defect ClinVar NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital Bile Acid Synthesis Defect ClinVar PMID:28492532 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
congenital bile acid synthesis defect 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by OMIM:607765
ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1		 OMIM
ClinVar		 PMID:3470305 PMID:11067870 PMID:12679481 PMID:25741868 NCBI chr 1:182,411,836...182,415,447
Ensembl chr 1:182,412,151...182,415,442 		JBrowse link
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 term: Congenital bile acid synthesis defect 2
ClinVar Annotator: match by OMIM:235555
CTD Direct Evidence: marker/mechanism		 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
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: Bile acid synthesis defect, congenital, 3 OMIM
ClinVar		 PMID:9802883 PMID:18252231 PMID:18367963 PMID:19363635 PMID:19439420 More... NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
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
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 4		 OMIM
ClinVar		 PMID:9584266 PMID:10655068 PMID:12512044 PMID:15249642 PMID:18032455 More... NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255 		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 chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
congenital bile acid synthesis defect 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd3 ATP binding cassette subfamily D member 3 ISO ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 ClinVar
OMIM		 PMID:25168382 PMID:25741868 NCBI chr 2:209,852,087...209,905,763
Ensembl chr 2:209,852,087...209,906,020 		JBrowse link
congenital bile acid synthesis defect 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox2 acyl-CoA oxidase 2 ISO ClinVar Annotator: match by term: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 6		 ClinVar
OMIM		 PMID:25741868 PMID:27647924 PMID:27884763 NCBI chr15:16,660,584...16,692,160
Ensembl chr15:16,660,272...16,692,160 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    physical disorder 3106
      congenital bile acid synthesis defect 7
        congenital bile acid synthesis defect 1 1
        congenital bile acid synthesis defect 2 1
        congenital bile acid synthesis defect 3 1
        congenital bile acid synthesis defect 4 2
        congenital bile acid synthesis defect 5 1
        congenital bile acid synthesis defect 6 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          inherited metabolic disorder 2650
            lipid metabolism disorder 1017
              steroid inherited metabolic disorder 53
                congenital bile acid synthesis defect 7
                  congenital bile acid synthesis defect 1 1
                  congenital bile acid synthesis defect 2 1
                  congenital bile acid synthesis defect 3 1
                  congenital bile acid synthesis defect 4 2
                  congenital bile acid synthesis defect 5 1
                  congenital bile acid synthesis defect 6 1
paths to the root