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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
 xref: NCI:C202115

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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:1905723 PMID:1975693 PMID:1985108 PMID:7695699 PMID:7757086 More... NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Diseases of the Aged 1159
      osteoarthritis 231
        Osteoarthritis with Mild Chondrodysplasia 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Immune & Inflammatory Diseases 4636
        immune system disease 4034
          primary immunodeficiency disease 3474
            autoimmune disease 1853
              autoimmune disease of musculoskeletal system 830
                rheumatic disease 640
                  osteoarthritis 231
                    Osteoarthritis with Mild Chondrodysplasia 1
paths to the root