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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:Neuroblastoma 2
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Accession:DOID:9001305 term browser browse the term
Synonyms:exact_synonym: NBLST2
 narrow_synonym: neuroblastoma with Hirschsprung disease
 related_synonym: neuroblastoma, susceptibility to, 2
 primary_id: MIM:613013

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Neuroblastoma 2 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: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 ClinVar
OMIM		 PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of cellular proliferation 7341
      Neoplasms by Site 6819
        Nervous System Neoplasms 1559
          peripheral nervous system neoplasm 171
            autonomic nervous system neoplasm 90
              neuroblastoma 90
                Neuroblastoma 2 1
Path 2
Term Annotations click to browse term
  disease 15388
    disease of cellular proliferation 7341
      cancer 5416
        organ system cancer 5192
          nervous system cancer 918
            central nervous system cancer 755
              brain cancer 739
                supratentorial cancer 477
                  cerebrum cancer 448
                    malignant astrocytoma 444
                      astroblastoma 286
                        Primitive Neuroectodermal Tumors 194
                          Primitive Peripheral Neuroectodermal Tumors 91
                            Neuroblastic Tumor 90
                              neuroblastoma 90
                                Neuroblastoma 2 1
paths to the root