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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 19100
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        cell type benign neoplasm 1967
          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 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                muscle tissue disease 1347
                  Muscle Tissue Neoplasms 187
                    musculoskeletal system benign neoplasm 130
                      connective tissue benign neoplasm 78
                        lipoma 10
                          central nervous system lipoma 1
                            cerebral hemisphere lipoma + 1
                            nervous system hibernoma 0
                            spinal cord lipoma + 0
paths to the root