Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:acrocapitofemoral dysplasia
go back to main search page
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.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      bone development disease 1263
        osteochondrodysplasia 430
          acrocapitofemoral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Skin and Connective Tissue Diseases 5371
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              dysostosis 319
                brachydactyly 30
                  acrocapitofemoral dysplasia 1
paths to the root


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