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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 2
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Accession:DOID:9002010 term browser browse the term
Definition:An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. Caused by homozygous mutation in the SLC51B gene on chromosome 15q22. (OMIM)
Synonyms:exact_synonym: PBAM2
 primary_id: OMIM:619481


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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 PMID:25741868 PMID:28898457 NCBI chr 8:65,917,840...65,931,885
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 OMIM
ClinVar		 PMID:25741868 PMID:28898457 NCBI chr 8:65,931,891...65,939,953
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 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        diarrhea 109
          Primary Bile Acid Malabsorption 3
            Primary Bile Acid Malabsorption 2 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        intestinal disease 3073
          Malabsorption Syndromes 214
            Steatorrhea 3
              Primary Bile Acid Malabsorption 3
                Primary Bile Acid Malabsorption 2 2
paths to the root