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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: PGL2;   PPGL2;   familial glomus tumors 2;   pheochromocytoma/paraganglioma syndrome 2
 primary_id: MESH:C566646
 alt_id: OMIM:601650


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glomus tumors, familial, 2 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2 | ClinVar Annotator: match by term: Paragangliomas 2		 OMIM
CTD
ClinVar		 PMID:6264239 PMID:6286462 PMID:9536098 PMID:17576681 PMID:19628817 More... NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Hereditary Neoplastic Syndromes 1284
        Paragangliomas 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                paraganglioma 47
                  Paragangliomas 2 1
paths to the root