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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:infant-type hemispheric glioma
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Accession:DOID:0081278 term browser browse the term
Definition:A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. (DO)
Synonyms:xref: NCI:C185471


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infant-type hemispheric glioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Infant-type hemispheric glioma ClinVar PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of cellular proliferation 7892
      Neoplasms by Histologic Type 5349
        cell type cancer 3784
          high grade glioma 636
            malignant astrocytoma 450
              infant-type hemispheric glioma 1
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        Nervous System Neoplasms 1585
          Central Nervous System Neoplasms 1382
            central nervous system cancer 732
              brain cancer 715
                supratentorial cancer 507
                  cerebrum cancer 454
                    malignant astrocytoma 450
                      infant-type hemispheric glioma 1
paths to the root