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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:central nervous system lipoma
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Accession:DOID:6293 term browser browse the term
Definition:A central nervous system benign neoplasm that derives_from fat cells. (DO)
Synonyms:exact_synonym: lipoma of the CNS
 primary_id: RDO:9004396
 xref: NCI:C5451
For additional species annotation, visit the Alliance of Genome Resources.


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corpus callosum lipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Corpus callosum lipoma ClinVar PMID:25741868 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      Neoplasms by Histologic Type 5288
        cell type benign neoplasm 1969
          lipoma 10
            central nervous system lipoma 1
              cerebral hemisphere lipoma + 1
              nervous system hibernoma 0
              spinal cord lipoma + 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      benign neoplasm 2230
        organ system benign neoplasm 1302
          nervous system benign neoplasm 723
            central nervous system benign neoplasm 667
              central nervous system lipoma 1
                cerebral hemisphere lipoma + 1
                nervous system hibernoma 0
                spinal cord lipoma + 0
paths to the root