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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:606835
ClinVar Annotator: match by term: Digital arthropathy-brachydactyly, familial
OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    Diseases of the Aged 1289
      osteoarthritis 238
        Digital Arthropathy-Brachydactyly, Familial 1
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
                    Digital Arthropathy-Brachydactyly, Familial 1
paths to the root