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

ONTOLOGY REPORT - ANNOTATIONS


Term:sclerosteosis 1
go back to main search page
Accession:DOID:0060756 term browser browse the term
Definition:A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: SOST1
 primary_id: OMIM:269500
 alt_id: RDO:9003156
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
sclerosteosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          sclerosteosis 1 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      musculoskeletal system disease 3975
        connective tissue disease 2572
          bone disease 2114
            bone development disease 892
              dysostosis 233
                synostosis 148
                  syndactyly 41
                    sclerosteosis 2
                      sclerosteosis 1 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.