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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: OMIM:613013
For additional species annotation, visit the Alliance of Genome Resources.


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Neuroblastoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b susceptibility ISO ClinVar Annotator: match by term: Neuroblastoma 2 ClinVar
OMIM
PMID:15024693, PMID:15121777, PMID:15338462, PMID:16691592, PMID:16763219, PMID:16830328, PMID:17637745, PMID:17765533, PMID:18079495, PMID:19011468, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Nervous System Neoplasms 1662
          peripheral nervous system neoplasm 129
            autonomic nervous system neoplasm 81
              neuroblastoma 81
                Neuroblastoma 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Brain Neoplasms 1292
              Supratentorial Neoplasms 1019
                supratentorial cancer 1019
                  cerebrum cancer 969
                    astrocytoma 967
                      astroblastoma 233
                        Primitive Neuroectodermal Tumors 144
                          Primitive Peripheral Neuroectodermal Tumors 82
                            neuroblastoma 81
                              Neuroblastoma 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.