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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 OMIM:613870 OMIM
ClinVar
PMID:8530372 PMID:9915973 NCBI chr 4:137,862,237...137,965,229
Ensembl chr 4:137,862,237...137,965,229
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13465
    physical disorder 2477
      congenital heart disease 1061
        Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 13465
    disease of anatomical entity 12944
      gastrointestinal system disease 4350
        Gastrointestinal Diseases 2519
          intestinal disease 1485
            colonic disease 1004
              megacolon 176
                Hirschsprung's disease 175
                  Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
paths to the root