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RGD uses the Human Disease Ontology (DO, 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 A1B
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Accession:DOID:0110974 term browser browse the term
Definition:A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. (DO)
Synonyms:exact_synonym: BDA1B
 primary_id: MESH:C564635;   RDO:0013528
 alt_id: OMIM:607004
For additional species annotation, visit the Alliance of Genome Resources.

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14311
    Developmental Disease 11547
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10278
        genetic disease 9913
          brachydactyly type A1B 0
Path 2
Term Annotations click to browse term
  disease 14311
    disease of anatomical entity 14037
      musculoskeletal system disease 6473
        connective tissue disease 4331
          bone disease 3068
            bone development disease 1698
              dysostosis 427
                brachydactyly 32
                  brachydactyly type A1 4
                    brachydactyly type A1B 0
paths to the root