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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:Glomus Jugulare Tumor
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Accession:DOID:9002449 term browser browse the term
Definition:A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)
Synonyms:exact_synonym: familial glomus tumors, 1;   glomus jugulare tumors
 primary_id: MESH:D005925
 xref: EFO:1000353;   EFO:1001796


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Glomus Jugulare Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861339 BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 IAGP ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 More... NCBI chr11:112,086,311...112,087,510 JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:11156372 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    disease of cellular proliferation 9860
      Neoplasms by Site 9033
        organ system benign neoplasm 1431
          endocrine organ benign neoplasm 175
            pheochromocytoma 82
              paraganglioma 53
                Glomus Jugulare Tumor 2
Path 2
Term Annotations click to browse term
  disease 35756
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24648
        genetic disease 23840
          monogenic disease 18586
            autosomal genetic disease 16857
              autosomal dominant disease 10968
                paraganglioma 53
                  Glomus Jugulare Tumor 2
paths to the root