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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type D
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Accession:DOID:0110971 term browser browse the term
Definition:A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. (DO)
Synonyms:exact_synonym: BDD;   Stub Thumb
 primary_id: MESH:C562420
 alt_id: OMIM:113200;   RDO:0012155
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        dysostosis 303
          brachydactyly 29
            brachydactyly type D 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                brachydactyly 29
                  brachydactyly type D 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.