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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 15639
    Developmental Diseases 8774
      bone development disease 1001
        osteochondrodysplasia 410
          acrocapitofemoral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              dysostosis 307
                brachydactyly 31
                  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.