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

ONTOLOGY REPORT - ANNOTATIONS


Term:omodysplasia
go back to main search page
Accession:DOID:0060288 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by severe congenital shortening and distal tapering of the humeri and femori as well as cryptorchidism, congential heart defects, cognitive delay and dysmorphic facies, has_material_basis_in autosomal recessive inheritance of mutation in the GPC6 gene. (DO)
Synonyms:primary_id: RDO:9004929
 xref: OMIM:PS258315;   ORDO:2733
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
omodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:13592920
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:8554872
RGD:13592920
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:7240710
RGD:8554872
RGD:11554173
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          omodysplasia 2
            Omodysplasia 1 1
            Omodysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                omodysplasia 2
                  Omodysplasia 1 1
                  Omodysplasia 2 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.