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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:astroblastoma, MN1-altered
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Accession:DOID:0080904 term browser browse the term
Definition:An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. (DO)
Synonyms:exact_synonym: CNS high-grade neuroepithelial tumors with MN1 alteration



show annotations for term's descendants           Sort by:
astroblastoma, MN1-altered term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      Neoplasms by Histologic Type 4983
        Glandular and Epithelial Neoplasms 3524
          astroblastoma 252
            astroblastoma, MN1-altered 3
Path 2
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      cancer 5186
        organ system cancer 4955
          nervous system cancer 891
            central nervous system cancer 723
              brain cancer 708
                supratentorial cancer 443
                  cerebrum cancer 415
                    malignant astrocytoma 412
                      astroblastoma 252
                        astroblastoma, MN1-altered 3
paths to the root