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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 Ganglioneuroblastoma
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Accession:DOID:9001466 term browser browse the term
Synonyms:exact_synonym: Neuroblastoma with Hirschsprung disease
 primary_id: MESH:C538119


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Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      gastrointestinal system disease 6496
        Digestive System Abnormalities 509
          Hirschsprung's disease 173
            Hirschsprung Disease Ganglioneuroblastoma 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      cancer 5267
        organ system cancer 5035
          nervous system cancer 902
            central nervous system cancer 725
              brain cancer 710
                supratentorial cancer 448
                  cerebrum cancer 419
                    malignant astrocytoma 415
                      astroblastoma 254
                        Primitive Neuroectodermal Tumors 163
                          Primitive Peripheral Neuroectodermal Tumors 94
                            Neuroblastic Tumor 93
                              neuroblastoma 93
                                ganglioneuroblastoma 1
                                  Hirschsprung Disease Ganglioneuroblastoma 1
paths to the root