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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:subependymal giant cell astrocytoma
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Accession:DOID:5077 term browser browse the term
Synonyms:exact_synonym: SEGA
 xref: GARD:10632;   ICDO:9384/1;   NCI:C3696
For additional species annotation, visit the Alliance of Genome Resources.


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subependymal giant cell astrocytoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14092
    disease of cellular proliferation 6721
      benign neoplasm 1978
        cell type benign neoplasm 1735
          low grade glioma 574
            benign ependymoma 1
              subependymal glioma 1
                subependymal giant cell astrocytoma 1
Path 2
Term Annotations click to browse term
  disease 14092
    disease of cellular proliferation 6721
      Neoplasms by Site 6235
        organ system cancer 4688
          nervous system cancer 872
            central nervous system cancer 714
              brain cancer 702
                high grade glioma 651
                  Ependymomas 12
                    benign ependymoma 1
                      subependymal glioma 1
                        subependymal giant cell astrocytoma 1
paths to the root