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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:Total Intestinal Aganglionosis
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Accession:DOID:9003546 term browser browse the term
Definition:A rare, uniformly fatal condition with absence of ganglia from the duodenum to the rectum.
Synonyms:exact_synonym: Near-total intestinal aganglionosis
 primary_id: MESH:C538058
 alt_id: MIM:202550;   RDO:0003993

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Total Intestinal Aganglionosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Aganglionosis, total intestinal ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      gastrointestinal system disease 6098
        Digestive System Abnormalities 476
          Hirschsprung's disease 160
            Total Intestinal Aganglionosis 1
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      gastrointestinal system disease 6098
        intestinal disease 2740
          colonic disease 2061
            megacolon 349
              Hirschsprung's disease 160
                Total Intestinal Aganglionosis 1
paths to the root