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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:Ballard syndrome
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Accession:DOID:0110963 term browser browse the term
Definition:A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. (DO)
Synonyms:exact_synonym: Brachydactyly Ballard type;   Brachydactyly Types B and E Combined;   Pitt Williams brachydactyly
 primary_id: MESH:C537094
 alt_id: OMIM:112440;   RDO:0002868
 xref: ORDO:93395

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      bone development disease 2182
        dysostosis 543
          brachydactyly 33
            Ballard syndrome 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Skin and Connective Tissue Diseases 6452
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              dysostosis 543
                brachydactyly 33
                  Ballard syndrome 0
paths to the root