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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 1
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Accession:DOID:9002199 term browser browse the term
Synonyms:exact_synonym: PGL1;   PPGL1;   Paragangliomas, Familial Nonchromaffin, 1;   familial paragangliomas, 1;   pheochromocytoma/paraganglioma syndrome 1
 primary_id: MIM:168000


show annotations for term's descendants           Sort by:
Paragangliomas 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Paragangliomas 1 ClinVar PMID:25720320 PMID:25741868 PMID:26198225 PMID:26269449 PMID:27390349 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399 		JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Paragangliomas 1 | ClinVar Annotator: match by term: Paragangliomas familial 1 OMIM
ClinVar		 PMID:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 More... NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112 		JBrowse link
Paragangliomas with Sensorineural Hearing Loss 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: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 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 16234
    disease of cellular proliferation 7740
      Neoplasms by Site 7198
        organ system benign neoplasm 1277
          endocrine organ benign neoplasm 152
            pheochromocytoma 66
              paraganglioma 44
                Paragangliomas 1 2
                  Paragangliomas with Sensorineural Hearing Loss 1
Path 2
Term Annotations click to browse term
  disease 16234
    Developmental Disease 14023
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13040
        genetic disease 12729
          monogenic disease 10864
            autosomal genetic disease 10377
              autosomal dominant disease 6715
                paraganglioma 44
                  Paragangliomas 1 2
                    Paragangliomas with Sensorineural Hearing Loss 1
paths to the root