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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:Osteoarthritis with Mild Chondrodysplasia
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Accession:DOID:9001210 term browser browse the term
Synonyms:exact_synonym: NAMAQUALAND HIP DYSPLASIA;   NHD;   OSCDP
 primary_id: MESH:C565740;   RDO:0014298
 alt_id: OMIM:604864
For additional species annotation, visit the Alliance of Genome Resources.


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Osteoarthritis with Mild Chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: NAMAQUALAND HIP DYSPLASIA
ClinVar Annotator: match by term: Osteoarthritis with mild chondrodysplasia
OMIM
ClinVar
PMID:1975693, PMID:1985108, PMID:7752132, PMID:7757086, PMID:8325895, PMID:8507190, PMID:9101290, PMID:9711874, PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Diseases of the Aged 1250
      osteoarthritis 235
        Osteoarthritis with Mild Chondrodysplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Immune & Inflammatory Diseases 3511
        immune system disease 2931
          primary immunodeficiency disease 2348
            autoimmune disease 1670
              autoimmune disease of musculoskeletal system 907
                rheumatic disease 740
                  osteoarthritis 235
                    Osteoarthritis with Mild Chondrodysplasia 1
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.