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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:Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
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Accession:DOID:9001782 term browser browse the term
Synonyms:exact_synonym: HCAD
 primary_id: MESH:C563939;   RDO:0013061
 alt_id: OMIM:613870
For additional species annotation, visit the Alliance of Genome Resources.


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Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECE1 endothelin converting enzyme 1 ISO OMIM NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12803
    physical disorder 2368
      congenital heart disease 998
        Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 12803
    disease of anatomical entity 12334
      gastrointestinal system disease 4105
        Gastrointestinal Diseases 2422
          intestinal disease 1417
            colonic disease 968
              megacolon 168
                Hirschsprung's disease 167
                  Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
paths to the root