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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:Digital Arthropathy-Brachydactyly, Familial
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Accession:DOID:9006934 term browser browse the term
Synonyms:exact_synonym: FDAB
 primary_id: MESH:C564656
 alt_id: OMIM:606835
 xref: NCI:C175208

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Digital Arthropathy-Brachydactyly, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly OMIM
ClinVar		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chrNW_004955455:8,744,865...8,781,644
Ensembl chrNW_004955455:8,744,176...8,783,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Diseases of the Aged 1159
      osteoarthritis 231
        Digital Arthropathy-Brachydactyly, Familial 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
                    Digital Arthropathy-Brachydactyly, Familial 1
paths to the root