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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.


show annotations for term's descendants           Sort by:
 
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 16096
    disease of cellular proliferation 5913
      Hereditary Neoplastic Syndromes 815
        Paragangliomas 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                paraganglioma 38
                  Paragangliomas 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.