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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondyloepimetaphyseal Dysplasia with Joint Laxity
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Accession:DOID:9006229 term browser browse the term
Synonyms:exact_synonym: SEMDJL
 primary_id: MESH:C562968
 alt_id: RDO:0012454
 xref: OMIM:PS271640
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Spondyloepimetaphyseal Dysplasia with Joint Laxity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exoc6b exocyst complex component 6B JBrowse link 4 116,314,695 116,786,466 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    Wounds and Injuries 810
      Bone Fractures 77
        Spondyloepimetaphyseal Dysplasia with Joint Laxity 5
          Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 1
          Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 1
          Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      musculoskeletal system disease 4321
        connective tissue disease 2793
          bone disease 2244
            bone development disease 1006
              osteochondrodysplasia 414
                spondyloepimetaphyseal dysplasia 73
                  Spondyloepimetaphyseal Dysplasia with Joint Laxity 5
                    Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 1
                    Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 1
                    Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.