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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: OMIM:202550;   RDO:0003993
For additional species annotation, visit the Alliance of Genome Resources.


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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 IAGP
ISO
ClinVar Annotator: match by term: Total intestinal aganglionosis
ClinVar Annotator: match by term: Near-total intestinal aganglionosis
ClinVar PMID:16944573 PMID:18162831 PMID:25741868, PMID:21915282 RGD:6480217 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      gastrointestinal system disease 4651
        Digestive System Abnormalities 428
          Hirschsprung's disease 181
            Total Intestinal Aganglionosis 6
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      gastrointestinal system disease 4651
        Gastrointestinal Diseases 2583
          intestinal disease 1536
            colonic disease 1025
              megacolon 182
                Hirschsprung's disease 181
                  Total Intestinal Aganglionosis 6
paths to the root