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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
 xref: ORDO:2639
For additional species annotation, visit the Alliance of Genome Resources.


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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 15619
    Developmental Diseases 8737
      bone development disease 983
        dysostosis 303
          brachydactyly 29
            fibular hypoplasia and complex brachydactyly 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                brachydactyly 29
                  fibular hypoplasia and complex brachydactyly 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.