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ONTOLOGY REPORT - ANNOTATIONS


Term:spondyloepimetaphyseal dysplasia, Missouri type
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Accession:DOID:0080030 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (DO)
Synonyms:exact_synonym: SEMD, Missouri Type
 narrow_synonym: MANDP1;   METAPHYSEAL ANADYSPLASIA 1
 primary_id: MESH:C566574
 alt_id: OMIM:602111;   RDO:0014891
For additional species annotation, visit the Alliance of Genome Resources.


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spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          spondyloepimetaphyseal dysplasia 71
            spondyloepimetaphyseal dysplasia, Missouri type 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                spondyloepimetaphyseal dysplasia 71
                  spondyloepimetaphyseal dysplasia, Missouri type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.