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
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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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Wounds and Injuries 800
      Bone Fractures 74
        Spondyloepimetaphyseal Dysplasia with Joint Laxity 3
          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 14926
    disease of anatomical entity 14092
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              osteochondrodysplasia 406
                Spondyloepimetaphyseal Dysplasia with Joint Laxity 3
                  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.