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Term:spondyloepimetaphyseal dysplasia, Strudwick type
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Accession:DOID:0080028 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (DO)
Synonyms:exact_synonym: SEMDC;   SEMDSTWK;   SMD;   Sed Strudwick;   Semd, Strudwick type;   Smed, Strudwick Type;   Smed, Type I;   Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type;   Strudwick syndrome;   dappled metaphysis syndrome;   spondylometaphyseal dysplasia;   spondylometaphyseal dysplasia (Smd)
 primary_id: MESH:C537501
 alt_id: OMIM:184250;   RDO:0003351
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spondyloepimetaphyseal dysplasia, Strudwick type 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:7240710
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872

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  disease 15619
    syndrome 5154
      spondyloepimetaphyseal dysplasia, Strudwick type 3
Path 2
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  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                spondyloepimetaphyseal dysplasia 71
                  spondyloepimetaphyseal dysplasia, Strudwick type 3
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