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ONTOLOGY REPORT - ANNOTATIONS


Term:spondyloepimetaphyseal dysplasia, Sponastrime type
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Accession:DOID:5684 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: Sponastrime dysplasia;   Spondylar and nasal Alterations-Striated Metaphyses syndrome;   Spondylar and nasal alterations with striated metaphyses;   TONSL-RELATED CONDITION
 primary_id: MESH:C535786
 alt_id: OMIM:271510;   RDO:0001093
 xref: NCI:C92206
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spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          spondyloepimetaphyseal dysplasia 71
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                spondyloepimetaphyseal dysplasia 71
                  spondyloepimetaphyseal dysplasia, Sponastrime 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.