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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.


show annotations for term's descendants           Sort by:
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
RGD		 PMID:12297987 RGD:734570 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2712793 PMID:8528213 PMID:9915952 PMID:11326272 PMID:12297987 More... NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		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 chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        arthropathy 1471
          Crystal Arthropathies 29
            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 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone inflammation disease 1492
              arthropathy 1471
                arthritis 1049
                  chondrocalcinosis 3
                    Chondrocalcinosis 1 0
                    Chondrocalcinosis 2 2
                    Chondrocalcinosis due to Apatite Crystal Deposition 0
                    Rotator Cuff Tear Arthropathy 0
paths to the root