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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type A1D
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Accession:DOID:0110978 term browser browse the term
Definition:A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)
Synonyms:exact_synonym: BDA1D;   brachydactyly type A1, D
 primary_id: OMIM:616849
 alt_id: RDO:9000376
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type A1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          brachydactyly type A1D 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              dysostosis 233
                brachydactyly 29
                  brachydactyly type A1 4
                    brachydactyly type A1D 1
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