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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 SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:11156372 More... NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      Neoplasms by Site 6635
        organ system benign neoplasm 1240
          endocrine organ benign neoplasm 147
            pheochromocytoma 64
              paraganglioma 42
                Glomus Jugulare Tumor 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6055
                paraganglioma 42
                  Glomus Jugulare Tumor 1
paths to the root