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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-preaxial hallux varus syndrome
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Accession:DOID:0110962 term browser browse the term
Definition:A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. (DO)
Synonyms:exact_synonym: Christian brachydactyly;   dominant preaxial brachydactyly with hallux varus and thumb abduction;   preaxial brachydactyly with hallux varus and thumb abduction
 primary_id: MESH:C537087
 alt_id: OMIM:112450;   RDO:0002861
 xref: ORDO:1278


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      bone development disease 2303
        dysostosis 576
          brachydactyly 33
            brachydactyly-preaxial hallux varus syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                brachydactyly 33
                  brachydactyly-preaxial hallux varus syndrome 0
paths to the root