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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:Paragangliomas 2
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Accession:DOID:9005655 term browser browse the term
Synonyms:exact_synonym: Glomus Tumors, Familial, 2;   PGL2
 primary_id: MESH:C566646;   RDO:0014951
 alt_id: OMIM:601650
For additional species annotation, visit the Alliance of Genome Resources.


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Paragangliomas 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Paragangliomas 2 OMIM
ClinVar
PMID:6264239 PMID:6286462 PMID:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:22241717 PMID:24414418 PMID:25741868 PMID:28099933 PMID:28492532 NCBI chr 1:226,543,671...226,572,414
Ensembl chr 1:226,547,531...226,572,349
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of cellular proliferation 6943
      Hereditary Neoplastic Syndromes 912
        Paragangliomas 2 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                paraganglioma 40
                  Paragangliomas 2 1
paths to the root