ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
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 14823
    syndrome 4218
      spondyloepimetaphyseal dysplasia, Strudwick type 3
Path 2
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  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                spondyloepimetaphyseal dysplasia 58
                  spondyloepimetaphyseal dysplasia, Strudwick type 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.