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

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 16017
    Developmental Diseases 9307
      bone development disease 1259
        osteochondrodysplasia 430
          acrocapitofemoral dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Skin and Connective Tissue Diseases 5365
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              dysostosis 318
                brachydactyly 30
                  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.