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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:brachydactyly type A3
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Accession:DOID:0110966 term browser browse the term
Definition:A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. (DO)
Synonyms:exact_synonym: BDA3;   brachydactyly-clinodactyly;   brachymesophalangy 5;   brachymesophalangy V
 primary_id: MESH:C537090
 alt_id: OMIM:112700;   RDO:0002864
 xref: GARD:963



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      bone development disease 2304
        dysostosis 577
          brachydactyly 33
            brachydactyly type A3 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              dysostosis 577
                brachydactyly 33
                  brachydactyly type A3 0
paths to the root