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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
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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:8554872

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Path 1
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          brachydactyly type A1D 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      musculoskeletal system disease 5527
        connective tissue disease 3992
          bone disease 3455
            bone development disease 1252
              dysostosis 316
                brachydactyly 30
                  brachydactyly type A1 4
                    brachydactyly type A1D 1
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