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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 chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422 		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 DNA 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 chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    disease of cellular proliferation 7314
      Neoplasms by Histologic Type 5016
        cell type cancer 3559
          high grade glioma 614
            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 15415
    disease of cellular proliferation 7314
      cancer 5363
        organ system cancer 5126
          nervous system cancer 841
            central nervous system cancer 681
              brain cancer 667
                high grade glioma 614
                  brain glioma 26
                    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