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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:relapsing polychondritis
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Accession:DOID:2556 term browser browse the term
Definition:A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. (DO)
Synonyms:exact_synonym: chondromalacia, systemic;   chronic atrophic polychondritides;   chronic atrophic polychondritis;   relapsing polychondritides
 primary_id: MESH:D011081
 xref: EFO:1001148;   GARD:7417;   ICD10CM:M94.1;   NCI:C157268
For additional species annotation, visit the Alliance of Genome Resources.


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relapsing polychondritis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:ear RGD PMID:17606507 RGD:6483833 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      musculoskeletal system disease 8477
        autoimmune disease of musculoskeletal system 1000
          relapsing polychondritis 2
            Meyenburg-Altherr-Uehlinger Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      Skin and Connective Tissue Diseases 7700
        connective tissue disease 5951
          bone disease 4402
            bone inflammation disease 1551
              arthropathy 1530
                articular cartilage disease 2
                  chondromalacia 2
                    relapsing polychondritis 2
                      Meyenburg-Altherr-Uehlinger Syndrome 0
paths to the root