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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondylometaphyseal Dysplasia, Kozlowski Type
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Accession:DOID:9005801 term browser browse the term
Synonyms:exact_synonym: SMD, Kozlowski Type;   SMDK
 primary_id: MESH:C535797;   RDO:0001105
 alt_id: OMIM:184252
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylometaphyseal Dysplasia, Kozlowski Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          Spondylometaphyseal Dysplasia, Kozlowski Type 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                Spondylometaphyseal Dysplasia, Kozlowski 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.