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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 chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14092
    disease of cellular proliferation 6721
      Neoplasms by Histologic Type 4704
        cell type cancer 3379
          high grade glioma 651
            malignant astrocytoma 416
              infant-type hemispheric glioma 1
Path 2
Term Annotations click to browse term
  disease 14092
    disease of anatomical entity 13771
      nervous system disease 12061
        Nervous System Neoplasms 1473
          Central Nervous System Neoplasms 1309
            central nervous system cancer 714
              brain cancer 702
                supratentorial cancer 448
                  cerebrum cancer 420
                    malignant astrocytoma 416
                      infant-type hemispheric glioma 1
paths to the root