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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:Hand Osteoarthritis
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Accession:DOID:9005040 term browser browse the term
Synonyms:exact_synonym: Degenerative joint disease of hand;   Osteoarthritis - hand joint;   Osteoarthrosis of hand
 primary_id: RDO:9001106
For additional species annotation, visit the Alliance of Genome Resources.


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Hand Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 no_association ISO DNA:SNPs:exons: (rs2077647, rs1801132) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 no_association ISO DNA:SNPs:introns: (rs1256034, rs1256059, rs944460) (human) RGD PMID:19884274 RGD:10045830 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Il4 interleukin 4 no_association ISO DNA:SNPs:promoter, 5' utr, intron:multiple RGD PMID:20219689 RGD:10402786 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:SNPs:promoter, exons:multiple RGD PMID:20219689 RGD:10402786 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: HAND OSTEOARTHRITIS ClinVar PMID:12736871 PMID:14729835 PMID:28492532 NCBI chr 6:31,748,383...31,768,101
Ensembl chr 6:31,748,474...31,768,101
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Diseases of the Aged 1289
      osteoarthritis 238
        Hand Osteoarthritis 5
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Immune & Inflammatory Diseases 4007
        immune system disease 3368
          primary immunodeficiency disease 2705
            autoimmune disease 1845
              autoimmune disease of musculoskeletal system 953
                rheumatic disease 743
                  osteoarthritis 238
                    Hand Osteoarthritis 5
paths to the root