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ONTOLOGY REPORT - ANNOTATIONS


Term:spondyloepiphyseal dysplasia tarda
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Accession:DOID:0080362 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: SED tarda;   SED tarda, X-linked;   SEDT;   X-linked SED;   X-linked SEDT;   X-linked spondyloepiphyseal dysplasia tarda
 primary_id: OMIM:313400
 xref: ORDO:93284
For additional species annotation, visit the Alliance of Genome Resources.


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spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      bone development disease 1009
        osteochondrodysplasia 414
          spondyloepimetaphyseal dysplasia 73
            spondyloepiphyseal dysplasia tarda 2
              Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
              Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 0
              Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              osteochondrodysplasia 414
                spondyloepimetaphyseal dysplasia 73
                  spondyloepiphyseal dysplasia tarda 2
                    Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
                    Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 0
                    Spondyloepiphyseal Dysplasia Tarda, Toledo Type 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.