ONTOLOGY REPORT - ANNOTATIONS


Term:fibular hypoplasia and complex brachydactyly
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Accession:DOID:0050790 term browser browse the term
Definition:An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. (DO)
Synonyms:exact_synonym: Du Pan syndrome
 primary_id: MESH:C537931
 alt_id: OMIM:228900;   RDO:0003848
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fibular hypoplasia and complex brachydactyly 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:12437084

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      bone development disease 891
        dysostosis 233
          brachydactyly 29
            fibular hypoplasia and complex brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                brachydactyly 29
                  fibular hypoplasia and complex brachydactyly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.