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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
 broad_synonym: ECE1-RELATED CONDITION
 primary_id: MESH:C563939
 alt_id: MIM:613870


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ECE1-related condition | ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction		 CTD
ClinVar
OMIM		 PMID:8530372 PMID:9915973 PMID:25741868 PMID:28492532 PMID:34298581 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      congenital heart disease 1406
        Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      gastrointestinal system disease 7189
        intestinal disease 3103
          colonic disease 2320
            megacolon 409
              Hirschsprung's disease 194
                Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
paths to the root