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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:polymyalgia rheumatica
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Accession:DOID:853 term browser browse the term
Definition:A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. (DO)
Synonyms:exact_synonym: Forestier Certonciny Syndrome;   Peri-Extra-Articular Rheumatism;   Rhizomelic Pseudopolyarthritides;   Rhizomelic Pseudopolyarthritis
 primary_id: MESH:D011111
 xref: ICD10CM:M35.3;   ICD9CM:725;   NCI:C85018
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
polymyalgia rheumatica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:2859021 RGD:9495925 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:plasma, endothelial microparticle (human) RGD PMID:22211720 RGD:6771319 NCBI chr10:94,850,971...94,913,202 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        autoimmune disease of musculoskeletal system 907
          rheumatic disease 740
            polymyalgia rheumatica 6
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    polymyalgia rheumatica 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.