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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondyloepimetaphyseal Dysplasia, Shohat Type
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Accession:DOID:9006563 term browser browse the term
Synonyms:exact_synonym: SEMD, Shohat Type;   SEMDSH
 primary_id: MESH:C566523
 alt_id: OMIM:602557;   RDO:0014855
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddrgk1 DDRGK domain containing 1 JBrowse link 3 123,195,580 123,206,828 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      bone development disease 1089
        osteochondrodysplasia 415
          spondyloepimetaphyseal dysplasia 73
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      musculoskeletal system disease 5124
        connective tissue disease 3778
          bone disease 3286
            bone development disease 1089
              osteochondrodysplasia 415
                spondyloepimetaphyseal dysplasia 73
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 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.