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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, integral membrane protein ISO ClinVar Annotator: match by term: Glomus tumors familial 1 ClinVar PMID:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:11156372 More... NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    disease of cellular proliferation 7515
      Neoplasms by Site 6970
        organ system benign neoplasm 1283
          endocrine organ benign neoplasm 152
            pheochromocytoma 66
              paraganglioma 44
                Glomus Jugulare Tumor 1
Path 2
Term Annotations click to browse term
  disease 16106
    Developmental Disease 13806
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12831
        genetic disease 12479
          monogenic disease 10414
            autosomal genetic disease 9592
              autosomal dominant disease 6339
                paraganglioma 44
                  Glomus Jugulare Tumor 1
paths to the root