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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:Diarrhea 13
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Accession:DOID:9005374 term browser browse the term
Definition:A disease characterized by neonatal onset of recurrent vomiting and chronic watery diarrhea, resulting in severe failure to thrive. Caused by homozygous mutation in the ACSL5 gene on chromosome 10q25.
Synonyms:exact_synonym: DIAR13
 primary_id: OMIM:620357


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Diarrhea 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl5 acyl-CoA synthetase long-chain family member 5 ISO ClinVar Annotator: match by term: Diarrhea 13 OMIM
ClinVar		 PMID:33191500 NCBI chr 1:254,289,513...254,336,608
Ensembl chr 1:254,292,521...254,336,607 		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
          Infantile Diarrhea 11
            Diarrhea 13 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Digestive Signs and Symptoms 195
          diarrhea 109
            Infantile Diarrhea 11
              Diarrhea 13 1
paths to the root