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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:brain stem glioma
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Accession:DOID:4202 term browser browse the term
Definition:A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)
Synonyms:exact_synonym: brainstem neuroglial tumor
 narrow_synonym: Brain Stem Glioblastoma
 xref: EFO:1000141;   EFO:1000142;   NCI:C8501
For additional species annotation, visit the Alliance of Genome Resources.


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brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
diffuse intrinsic pontine glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Histologic Type 5287
        cell type cancer 3761
          high grade glioma 703
            brain stem glioma 4
              adult brain stem glioma + 0
              brain stem astrocytic neoplasm 0
              brain stem ependymoma 0
              diffuse intrinsic pontine glioma + 2
              diffuse midline glioma, H3 K27M-mutant 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      cancer 5508
        organ system cancer 5262
          nervous system cancer 993
            central nervous system cancer 799
              brain cancer 783
                high grade glioma 703
                  brain glioma 32
                    brain stem glioma 4
                      adult brain stem glioma + 0
                      brain stem astrocytic neoplasm 0
                      brain stem ependymoma 0
                      diffuse intrinsic pontine glioma + 2
                      diffuse midline glioma, H3 K27M-mutant 0
paths to the root