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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 chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      gastrointestinal system disease 6788
        Digestive System Abnormalities 516
          Hirschsprung's disease 178
            Hirschsprung Disease Ganglioneuroblastoma 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      cancer 5523
        organ system cancer 5290
          nervous system cancer 965
            central nervous system cancer 781
              brain cancer 765
                supratentorial cancer 492
                  cerebrum cancer 461
                    malignant astrocytoma 457
                      astroblastoma 294
                        Primitive Neuroectodermal Tumors 199
                          Primitive Peripheral Neuroectodermal Tumors 95
                            Neuroblastic Tumor 94
                              neuroblastoma 94
                                ganglioneuroblastoma 1
                                  Hirschsprung Disease Ganglioneuroblastoma 1
paths to the root