ONTOLOGY REPORT - ANNOTATIONS


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
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      bone development disease 891
        osteochondrodysplasia 403
          acrocapitofemoral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                brachydactyly 29
                  acrocapitofemoral dysplasia 1
paths to the root

NHLBI Logo

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