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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type E1
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Accession:DOID:0110972 term browser browse the term
Definition:A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: BDE1
 primary_id: OMIM:113300
 alt_id: RDO:0007896
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type E1 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
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          brachydactyly type E1 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              dysostosis 303
                brachydactyly 29
                  Brachydactyly, Type E 3
                    brachydactyly type E1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.