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ONTOLOGY REPORT - ANNOTATIONS


Term:acrocapitofemoral dysplasia
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Accession:DOID:0050604 term browser browse the term
Definition:An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. (DO)
Synonyms:exact_synonym: ACFD
 primary_id: MESH:C564334
 alt_id: OMIM:607778;   RDO:0013338
 xref: GARD:10605
For additional species annotation, visit the Alliance of Genome Resources.


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acrocapitofemoral dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:1600033
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      bone development disease 981
        osteochondrodysplasia 406
          acrocapitofemoral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      Skin and Connective Tissue Diseases 4200
        connective tissue disease 2763
          bone disease 2212
            bone development disease 981
              dysostosis 303
                brachydactyly 29
                  acrocapitofemoral dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.