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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


show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Diseases of the Aged 1476
      osteoarthritis 254
        Digital Arthropathy-Brachydactyly, Familial 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Immune & Inflammatory Diseases 5581
        immune system disease 4787
          primary immunodeficiency disease 4159
            autoimmune disease 2328
              autoimmune disease of musculoskeletal system 999
                rheumatic disease 785
                  osteoarthritis 254
                    Digital Arthropathy-Brachydactyly, Familial 1
paths to the root