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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 4
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Accession:DOID:9008037 term browser browse the term
Synonyms:exact_synonym: PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;   PGL4;   PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;   PPGL4;   carotid body tumors and multiple extraadrenal pheochromocytomas;   familial extraadrenal pheochromocytoma;   pheochromocytoma/paraganglioma syndrome 4
 primary_id: MIM:115310


show annotations for term's descendants           Sort by:
Paragangliomas 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Padi2 peptidyl arginine deiminase 2 ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:18057081 NCBI chr 5:153,209,053...153,251,632
Ensembl chr 5:153,209,053...153,251,632 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal OMIM
ClinVar		 PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas 4 ClinVar PMID:9683583 PMID:10657297 PMID:11391798 PMID:12000816 PMID:12114404 More... NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of cellular proliferation 7791
      Neoplasms by Site 7247
        organ system benign neoplasm 1294
          endocrine organ benign neoplasm 158
            pheochromocytoma 69
              paraganglioma 47
                Paragangliomas 4 4
Path 2
Term Annotations click to browse term
  disease 19051
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal dominant disease 6529
                paraganglioma 47
                  Paragangliomas 4 4
paths to the root