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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 5:158,492,087...158,534,662
Ensembl chr 5:158,492,066...158,534,662 		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 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121 		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: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal 		OMIM
ClinVar		 PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:158,547,689...158,569,667 		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 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Site 7344
        organ system benign neoplasm 1304
          endocrine organ benign neoplasm 161
            pheochromocytoma 70
              paraganglioma 50
                Paragangliomas 4 4
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                paraganglioma 50
                  Paragangliomas 4 4
paths to the root