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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:chondrocalcinosis
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Accession:DOID:1156 term browser browse the term
Definition:An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. (DO)
Synonyms:exact_synonym: Calcium Pyrophosphate Deposition Disease;   Calcium Pyrophosphate Dihydrate Deposition;   chondrocalcinoses;   pseudogout
 primary_id: MESH:D002805
 xref: ICD9CM:712.1;   NCI:C34955;   ORDO:1416
For additional species annotation, visit the Alliance of Genome Resources.

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chondrocalcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chrNW_004624751:11,716,369...11,847,726
Ensembl chrNW_004624751:11,716,369...11,847,758 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chrNW_004624751:11,676,932...11,703,143
Ensembl chrNW_004624751:11,676,850...11,702,061 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		JBrowse link
Chondrocalcinosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2 OMIM
ClinVar		 PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 More... NCBI chrNW_004624751:11,716,369...11,847,726
Ensembl chrNW_004624751:11,716,369...11,847,758 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2 ClinVar PMID:2712793 PMID:11326272 PMID:19449425 PMID:25741868 PMID:28492532 NCBI chrNW_004624751:11,676,932...11,703,143
Ensembl chrNW_004624751:11,676,850...11,702,061 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14088
    disease of anatomical entity 13753
      musculoskeletal system disease 7235
        arthropathy 1195
          Crystal Arthropathies 24
            chondrocalcinosis 3
              Chondrocalcinosis 1 0
              Chondrocalcinosis 2 2
              Chondrocalcinosis due to Apatite Crystal Deposition 0
              Rotator Cuff Tear Arthropathy 0
Path 2
Term Annotations click to browse term
  disease 14088
    disease of anatomical entity 13753
      musculoskeletal system disease 7235
        connective tissue disease 4910
          bone disease 3621
            bone inflammation disease 1215
              arthropathy 1195
                arthritis 790
                  chondrocalcinosis 3
                    Chondrocalcinosis 1 0
                    Chondrocalcinosis 2 2
                    Chondrocalcinosis due to Apatite Crystal Deposition 0
                    Rotator Cuff Tear Arthropathy 0
paths to the root