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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 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          brachydactyly type E1 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      musculoskeletal system disease 3975
        connective tissue disease 2572
          bone disease 2114
            bone development disease 892
              dysostosis 233
                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.