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;   RDO:0014628
 alt_id: OMIM:113000
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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

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          brachydactyly type B1 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              dysostosis 233
                brachydactyly 29
                  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.