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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 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          brachydactyly type A1C 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 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.