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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type C
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Accession:DOID:0110970 term browser browse the term
Definition:A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: BDC;   Brachydactyly Haws type
 primary_id: MESH:C537093
 alt_id: OMIM:113100;   RDO:0002867
 xref: GARD:986;   ORDO:93384
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
RGD:12437083
RGD:12738200
RGD:12738202

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      bone development disease 981
        dysostosis 303
          brachydactyly 29
            brachydactyly type C 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        connective tissue disease 2763
          bone disease 2212
            bone development disease 981
              dysostosis 303
                brachydactyly 29
                  brachydactyly type C 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.