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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 ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction OMIM
ClinVar
PMID:8530372 PMID:9915973 PMID:25741868 PMID:34298581 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital heart disease 1191
        Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      gastrointestinal system disease 6558
        Gastrointestinal Diseases 4709
          intestinal disease 2920
            colonic disease 2191
              megacolon 396
                Hirschsprung's disease 182
                  Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
paths to the root