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ONTOLOGY REPORT - ANNOTATIONS


Term:sclerosteosis 2
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Accession:DOID:0060757 term browser browse the term
Definition:A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: SOST2
 primary_id: OMIM:614305
 alt_id: RDO:9001066
 xref: ORDO:3152
For additional species annotation, visit the Alliance of Genome Resources.


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sclerosteosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp4 LDL receptor related protein 4 JBrowse link 3 80,362,643 80,416,684 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                sclerosteosis 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                synostosis 202
                  syndactyly 42
                    sclerosteosis 2
                      sclerosteosis 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.