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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 3
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Accession:DOID:9003626 term browser browse the term
Synonyms:exact_synonym: Glomus Tumors, Familial, 3;   PGL3;   Paraganglioma, Familial Malignant;   Paragangliomas, Hereditary Extraadrenal;   extraadrenal pheochromocytoma and cervical paraganglioma;   familial extraadrenal pheochromocytoma
 primary_id: MESH:C565335
 alt_id: OMIM:605373
For additional species annotation, visit the Alliance of Genome Resources.


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Paragangliomas 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Glomus tumors, familial, 3 ClinVar PMID:12807974 PMID:17468193 PMID:23342407 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Paraganglioma, familial malignant ClinVar PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17200167 PMID:18362451 PMID:18840642 PMID:19454582 PMID:19802898 PMID:22835832 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:24033266 PMID:24102379 PMID:24659481 PMID:25298897 PMID:25741868 PMID:25972245 PMID:26642834 PMID:26719882 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30352407 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Paragangliomas 3
ClinVar Annotator: match by term: Glomus tumors, familial, 3
OMIM
ClinVar
PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 PMID:16249420 PMID:17468193 PMID:17667967 PMID:17898811 PMID:19351833 PMID:19454582 PMID:21106325 PMID:21979946 PMID:22136840 PMID:22351710 PMID:22517554 PMID:22703879 PMID:22868853 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26492543 PMID:27279923 PMID:27700540 PMID:28412079 PMID:28492532 PMID:28819017 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of cellular proliferation 6943
      Hereditary Neoplastic Syndromes 912
        Paragangliomas 3 3
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                paraganglioma 40
                  Paragangliomas 3 3
paths to the root