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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:Steatorrhea
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Accession:DOID:9003711 term browser browse the term
Definition:A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS.
Synonyms:exact_synonym: Fatty stool
 primary_id: MESH:D045602
 alt_id: DOID:10602
 xref: NCI:C86917



show annotations for term's descendants           Sort by:
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 CTD NCBI chr16:84,386,528...84,409,475
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 chr16:84,386,528...84,409,475
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 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
    syndrome 10833
      Malabsorption Syndromes 214
        Steatorrhea 3
          Primary Bile Acid Malabsorption + 3
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
paths to the root