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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 7
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Accession:DOID:9008213 term browser browse the term
Synonyms:exact_synonym: PGL7;   PPGL7;   pheochromocytoma/paraganglioma syndrome 7
 primary_id: OMIM:618475


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Paragangliomas 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlst dihydrolipoamide S-succinyltransferase ISO ClinVar Annotator: match by term: Paragangliomas 7 OMIM
ClinVar		 PMID:25741868 PMID:30929736 NCBI chr 6:104,758,511...104,783,296
Ensembl chr 6:104,758,631...104,783,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7691
      Neoplasms by Site 7143
        organ system benign neoplasm 1302
          endocrine organ benign neoplasm 159
            pheochromocytoma 69
              paraganglioma 47
                Paragangliomas 7 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 7 1
paths to the root