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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type B1
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Accession:DOID:0110969 term browser browse the term
Definition:A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: BDB;   BDB1;   brachydactyly, type B
 primary_id: MESH:C566196
 alt_id: OMIM:113000
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:7240710
RGD:8554872
RGD:11535949
RGD:11535951
RGD:11535952
RGD:11535953
RGD:11537345
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          brachydactyly type B1 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      musculoskeletal system disease 5527
        connective tissue disease 3992
          bone disease 3456
            bone development disease 1253
              dysostosis 316
                brachydactyly 30
                  brachydactyly type B1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.