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Primary Bile Acid Malabsorption - Ontology Report - Rat Genome Database

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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:Primary Bile Acid Malabsorption
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Accession:DOID:9003880 term browser browse the term
Synonyms:exact_synonym: PBAM
 primary_id: MESH:C567652

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Primary Bile Acid Malabsorption term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a2 solute carrier family 10 member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bile acid malabsorption, primary		 CTD
ClinVar		 PMID:9109432 PMID:16541252 PMID:19823678 PMID:21341987 PMID:21649730 More... NCBI chr16:91,088,089...91,111,025
Ensembl chr16:84,374,862...84,409,475 		JBrowse link
Primary Bile Acid Malabsorption 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 | ClinVar Annotator: match by term: SLC10A2-related condition OMIM
ClinVar		 PMID:9109432 PMID:9536098 PMID:16541252 PMID:17576681 PMID:19653651 More... NCBI chr16:91,088,089...91,111,025
Ensembl chr16:84,374,862...84,409,475 		JBrowse link
Primary Bile Acid Malabsorption 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasl12 RAS-like, family 12 ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 | ClinVar Annotator: match by term: SLC51B-related condition ClinVar PMID:25741868 PMID:28492532 PMID:28898457 NCBI chr 8:74,813,000...74,827,041
Ensembl chr 8:65,917,840...65,932,741 		JBrowse link
G Slc51b SLC51 subunit beta ISO ClinVar Annotator: match by term: Bile acid malabsorption, primary, 2 | ClinVar Annotator: match by term: SLC51B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28898457 NCBI chr 8:74,827,047...74,835,109
Ensembl chr 8:65,931,890...65,940,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      gastrointestinal system disease 7196
        diarrhea 115
          Primary Bile Acid Malabsorption 3
            Primary Bile Acid Malabsorption 1 1
            Primary Bile Acid Malabsorption 2 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      gastrointestinal system disease 7196
        intestinal disease 3105
          Malabsorption Syndromes 214
            Steatorrhea 3
              Primary Bile Acid Malabsorption 3
                Primary Bile Acid Malabsorption 1 1
                Primary Bile Acid Malabsorption 2 2
paths to the root