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ONTOLOGY REPORT - ANNOTATIONS


Term:brachydactyly type A1C
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Accession:DOID:0110977 term browser browse the term
Definition:A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: BDA1C;   BRACHYDACTYLY, TYPE A1, C
 primary_id: OMIM:615072
 alt_id: RDO:9000200
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brachydactyly type A1C 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

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          brachydactyly type A1C 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      musculoskeletal system disease 3975
        connective tissue disease 2572
          bone disease 2114
            bone development disease 892
              dysostosis 233
                brachydactyly 29
                  brachydactyly type A1 4
                    brachydactyly type A1C 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.