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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly-syndactyly syndrome
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Accession:DOID:0050689 term browser browse the term
Definition:An autosomal genetic disease that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BDSD
 narrow_synonym: BDSDO;   BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME
 primary_id: MESH:C565193
 alt_id: OMIM:610713;   RDO:0013906
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly-syndactyly syndrome 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

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Path 1
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  disease 14759
    syndrome 4210
      brachydactyly-syndactyly syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    brachydactyly-syndactyly syndrome 1
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